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
MED15	51586	broad.mit.edu	37	22	20922826	20922826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:20922826G>T	ENST00000263205.7	+	8	1129	c.1060G>T	c.(1060-1062)Gtg>Ttg	p.V354L	MED15_ENST00000542773.1_Missense_Mutation_p.159_159insL|MED15_ENST00000292733.7_Missense_Mutation_p.V354L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.V328L|MED15_ENST00000425759.2_Missense_Mutation_p.V243L|MED15_ENST00000541476.1_Missense_Mutation_p.V328L|MED15_ENST00000382974.2_Missense_Mutation_p.V283L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	354	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.V354L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCCGATGGTGGTGCAGCAGCC	0.597000													4	27					1.23904e-05	1.71612e-05	0.000602	1	0
FAM19A1	407738	broad.mit.edu	37	3	68055839	68055839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:68055839C>A	ENST00000478136.1	+	2	560	c.70C>A	c.(70-72)Cat>Aat	p.H24N	FAM19A1_ENST00000496687.1_Missense_Mutation_p.H24N	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	24						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCTACTCTGCCATGGATCCCT	0.502000													16	141					2.23348e-06	3.19983e-06	0.004007	1	0
FOLH1	2346	broad.mit.edu	37	11	49175441	49175441	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:49175441C>A	ENST00000340334.7	-	18	2250	c.1882G>T	c.(1882-1884)Gct>Tct	p.A628S	FOLH1_ENST00000356696.3_Missense_Mutation_p.A643S|FOLH1_ENST00000343844.4_Missense_Mutation_p.A335S|FOLH1_ENST00000256999.2_Missense_Mutation_p.A643S|FOLH1_ENST00000533034.1_Missense_Mutation_p.A628S	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	643					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.A643S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AACTTGGAAGCAATTTCTGTA	0.313000													10	66					7.48243e-07	1.11015e-06	0.006214	1	0
ZNF385D	79750	broad.mit.edu	37	3	21606170	21606170	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:21606170G>T	ENST00000281523.2	-	3	690	c.172C>A	c.(172-174)Ccg>Acg	p.P58T	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTCTGAATCGGGTCCATCTGT	0.358000													13	57					4.3838e-07	6.62206e-07	0.001855	1	0
ARSI	340075	broad.mit.edu	37	5	149676935	149676935	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:149676935C>A	ENST00000328668.7	-	2	2131	c.1552G>T	c.(1552-1554)Ggt>Tgt	p.G518C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	518						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.G518C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAAGCACCCCCATTAAAG	0.607000													17	120					3.32936e-07	5.10638e-07	0.006122	1	0
PABPC5	140886	broad.mit.edu	37	X	90690795	90690795	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:90690795G>C	ENST00000312600.3	+	2	433	c.219G>C	c.(217-219)gaG>gaC	p.E73D	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	73	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.E73D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGGATGCAGAGTGGGCCTTGA	0.532000													7	37					0	0	0.001984	0	0
SF3B1	23451	broad.mit.edu	37	2	198265462	198265462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:198265462C>A	ENST00000335508.5	-	18	2786	c.2695G>T	c.(2695-2697)Gct>Tct	p.A899S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	899					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A899S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGAAAGCATAAAGAATA	0.313000			Mis		myelodysplastic syndrome								11	78					4.36969e-10	7.6127e-10	0.001855	1	0
HELLS	3070	broad.mit.edu	37	10	96333850	96333850	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:96333850A>G	ENST00000348459.5	+	8	716	c.611A>G	c.(610-612)aAg>aGg	p.K204R	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.K204R|HELLS_ENST00000394045.1_Missense_Mutation_p.K204R|HELLS_ENST00000371332.4_Missense_Mutation_p.K204R	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	204					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	p.K204R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CCAGTCCGGAAGTGTAATGGT	0.393000													32	170					0	0	0.002836	0	0
ATP5G3	518	broad.mit.edu	37	2	176043042	176043042	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:176043042C>G	ENST00000284727.4	-	5	3427	c.403G>C	c.(403-405)Gct>Cct	p.A135P	ATP5G3_ENST00000409194.1_Missense_Mutation_p.A135P|ATP5G3_ENST00000392541.3_Missense_Mutation_p.A135P	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	135					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	p.A135P(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ATCAAGAAAGCAACCATCAAA	0.398000													15	110					0	0	0.003163	0	0
GLP1R	2740	broad.mit.edu	37	6	39047364	39047364	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:39047364C>A	ENST00000373256.4	+	11	1111	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	356					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.L356L(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CGCTGACACTCATCCCCCTGC	0.577000													9	71					0.000978159	0.00123194	0.000978	1	0
INHBA	3624	broad.mit.edu	37	7	41730102	41730102	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:41730102C>T	ENST00000242208.4	-	3	673	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E143K|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	143					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCACTGCCTTCCTTGGAAATC	0.502000										TSP Lung(11;0.080)			15	47					0	0	0.003163	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938182	29938182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:29938182G>T	ENST00000378993.1	+	8	1701	c.1028G>T	c.(1027-1029)cGa>cTa	p.R343L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R343Q(2)|p.R343L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATGGACGTCGACACGCCAGC	0.438000													32	95					1.08312e-15	2.20146e-15	0.001786	1	0
FBXW12	285231	broad.mit.edu	37	3	48416855	48416855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:48416855G>T	ENST00000296438.5	+	5	484	c.298G>T	c.(298-300)Gag>Tag	p.E100*	FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E81*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E100*|FBXW12_ENST00000436231.1_5'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	100								p.E100*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTGAGACGGAGTTGGCTTA	0.393000													9	69					9.70103e-10	1.66113e-09	0.000673	1	0
LPHN2	23266	broad.mit.edu	37	1	82432281	82432281	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:82432281G>T	ENST00000370728.1	+	15	2970	c.2325G>T	c.(2323-2325)ctG>ctT	p.L775L	LPHN2_ENST00000370727.1_Silent_p.L775L|LPHN2_ENST00000335786.5_Silent_p.L775L|LPHN2_ENST00000370725.1_Silent_p.L775L|LPHN2_ENST00000319517.6_Silent_p.L762L|LPHN2_ENST00000271029.4_Silent_p.L775L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.L762L|LPHN2_ENST00000394879.1_Silent_p.L762L|LPHN2_ENST00000370721.1_Silent_p.L700L|LPHN2_ENST00000370713.1_Silent_p.L762L|LPHN2_ENST00000370730.1_Silent_p.L775L|LPHN2_ENST00000370717.2_Silent_p.L775L|LPHN2_ENST00000370715.1_Silent_p.L762L|LPHN2_ENST00000359929.3_Silent_p.L762L			O95490	LPHN2_HUMAN	latrophilin 2	775					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L762L(1)|p.L775L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTTTACCCTGCCACACATTG	0.418000													24	141					2.32416e-17	4.98746e-17	0.002299	1	0
SGCG	6445	broad.mit.edu	37	13	23853548	23853548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:23853548G>T	ENST00000218867.3	+	5	560	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	SGCG_ENST00000545013.1_Missense_Mutation_p.D146Y|SGCG_ENST00000537476.1_Missense_Mutation_p.D146Y	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	146					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.D146Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CAACTCCAACGACGGCAAGCC	0.383000													10	39					0.000978159	0.00123194	0.000978	1	0
CPS1	1373	broad.mit.edu	37	2	211513216	211513216	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:211513216C>T	ENST00000233072.5	+	27	3552	c.3356C>T	c.(3355-3357)gCa>gTa	p.A1119V	CPS1_ENST00000430249.2_Missense_Mutation_p.A1125V|CPS1_ENST00000451903.2_Missense_Mutation_p.A668V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1119	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A1119V(1)|p.A1125V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTGGAATTTGCAAAGTCTGTG	0.323000													24	140					0	0	0.004656	0	0
SERPINA6	866	broad.mit.edu	37	14	94770786	94770786	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:94770786A>G	ENST00000341584.3	-	5	1333	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	396					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L396P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGCCAGGAAAAGGCTGCTCCA	0.527000													3	107					0	0	0.000248	0	0
NLRP10	338322	broad.mit.edu	37	11	7981773	7981773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:7981773G>T	ENST00000328600.2	-	2	1547	c.1386C>A	c.(1384-1386)taC>taA	p.Y462*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	462	NACHT.						ATP binding	p.Y462*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCGGAAGCTGTAGAACTTCT	0.507000													24	146					3.7963e-18	8.28887e-18	0.003330	1	0
ZNF260	339324	broad.mit.edu	37	19	37005408	37005408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:37005408C>A	ENST00000523638.1	-	3	1854	c.733G>T	c.(733-735)Gag>Tag	p.E245*	ZNF260_ENST00000592282.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000593142.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000588993.1_Nonsense_Mutation_p.E245*	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	245					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E245*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TAAGGTTTCTCTCCTGTGTGA	0.418000													30	129					5.90632e-09	9.6825e-09	0.002445	1	0
INHBA	3624	broad.mit.edu	37	7	41730103	41730103	+	Missense_Mutation	SNP	C	C	A	rs151132792		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:41730103C>A	ENST00000242208.4	-	3	672	c.426G>T	c.(424-426)aaG>aaT	p.K142N	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	142					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTGCCTTCCTTGGAAATCT	0.502000										TSP Lung(11;0.080)			13	47					9.31168e-06	1.30782e-05	0.001855	1	0
C3orf27	23434	broad.mit.edu	37	3	128292497	128292497	+	Missense_Mutation	SNP	C	C	T	rs141693917		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:128292497C>T	ENST00000356020.2	-	3	1042	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	26								p.V26I(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCGGGAGACGCTGAGTCTA	0.592000													10	28					0	0	0.000978	0	0
ASXL3	80816	broad.mit.edu	37	18	31323602	31323602	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:31323602C>G	ENST00000269197.5	+	12	3790	c.3790C>G	c.(3790-3792)Cta>Gta	p.L1264V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1264	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L1264V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCCTCTGTCCTAATGTCTGT	0.378000													19	76					0	0	0.007413	0	0
SMPD3	55512	broad.mit.edu	37	16	68405827	68405827	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:68405827G>T	ENST00000219334.5	-	3	861	c.258C>A	c.(256-258)tcC>tcA	p.S86S	SMPD3_ENST00000568373.1_Silent_p.S86S|SMPD3_ENST00000563226.1_Silent_p.S86S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	86					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.S86S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACTGCAGTGGGGACCAGAAGA	0.657000													5	63					0.000602214	0.000768131	0.000602	1	0
NALCN	259232	broad.mit.edu	37	13	102047695	102047695	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:102047695T>A	ENST00000251127.6	-	3	211	c.130A>T	c.(130-132)Atc>Ttc	p.I44F	NALCN_ENST00000376200.5_Missense_Mutation_p.I44F|NALCN_ENST00000376196.3_Missense_Mutation_p.I44F|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	44						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I44F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATGGCACAGATGCGCAGCAAA	0.433000													9	54					0	0	0.004482	0	0
TM4SF1	4071	broad.mit.edu	37	3	149093324	149093324	+	Missense_Mutation	SNP	A	A	T	rs140811683		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:149093324A>T	ENST00000472441.1	-	1	175	c.52T>A	c.(52-54)Tgt>Agt	p.C18S	TM4SF1_ENST00000305366.3_Missense_Mutation_p.C107S			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	107						integral to plasma membrane		p.C107S(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACAATGACACAGTAGCCAGAT	0.512000													8	56					0	0	0.003080	0	0
LMTK2	22853	broad.mit.edu	37	7	97822738	97822738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:97822738C>G	ENST00000297293.5	+	11	3254	c.2961C>G	c.(2959-2961)ttC>ttG	p.F987L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	987					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F987L(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCACCCTTCCCAGCCTCTG	0.567000													12	177					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38905924	38905924	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:38905924C>T	ENST00000359357.3	+	76	11341	c.11087C>T	c.(11086-11088)aCa>aTa	p.T3696I	DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660I					dynein, axonemal, heavy chain 8									p.T3696I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTCATCACAGAGATGAGC	0.522000													37	69					0	0	0.004878	0	0
SIMC1	375484	broad.mit.edu	37	5	175716950	175716950	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:175716950A>G	ENST00000443967.1	+	4	773	c.366A>G	c.(364-366)gtA>gtG	p.V122V	SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Silent_p.V141V					SUMO-interacting motifs containing 1									p.V122V(1)									ACACCTTTGTAGGTCCCCCAC	0.493000													3	106					0	0	0.004672	0	0
DIDO1	11083	broad.mit.edu	37	20	61528277	61528277	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:61528277C>A	ENST00000266070.4	-	7	1985	c.1660G>T	c.(1660-1662)Ggc>Tgc	p.G554C	DIDO1_ENST00000395343.1_Missense_Mutation_p.G554C|DIDO1_ENST00000395335.2_Missense_Mutation_p.G554C|DIDO1_ENST00000395340.1_Missense_Mutation_p.G554C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	554					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G554C(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCGGAGCCTGGAGGGGCT	0.552000													8	57					2.17888e-05	2.98476e-05	0.006214	1	0
AGAP1	116987	broad.mit.edu	37	2	236706518	236706518	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:236706518G>T	ENST00000409538.1	+	7	2080	c.1584G>T	c.(1582-1584)gtG>gtT	p.V528V	AGAP1_ENST00000409457.1_Silent_p.V263V|AGAP1_ENST00000428334.2_Silent_p.V102V|AGAP1_ENST00000304032.7_Silent_p.V263V|AGAP1_ENST00000336665.5_Silent_p.V263V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	263	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.V263V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCTGCCGTGCACATCAGCC	0.493000													42	205					1.62957e-23	3.7897e-23	0.001951	1	0
OR2M7	391196	broad.mit.edu	37	1	248486947	248486947	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:248486947G>T	ENST00000317965.2	-	1	952	c.924C>A	c.(922-924)ggC>ggA	p.G308G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G308G(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTCCAGACTTGCCCTTTCCTA	0.378000													14	53					4.7546e-09	7.87186e-09	0.004007	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871780	51871780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:51871780G>T	ENST00000371497.5	+	2	2670	c.1783G>T	c.(1783-1785)Gcc>Tcc	p.A595S	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A592S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A592S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	595					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACACACCTGGCCCCTTACAC	0.512000													28	153					4.22769e-11	7.68672e-11	0.006320	1	0
SIAH3	283514	broad.mit.edu	37	13	46425646	46425646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:46425646G>T	ENST00000400405.2	-	1	225	c.119C>A	c.(118-120)cCc>cAc	p.P40H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	40					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.P40H(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GTTGTGTGTGGGGTTGACGAC	0.537000													11	76					0.00010058	0.000133042	0.001368	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125232346	125232346	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:125232346A>T	ENST00000431078.1	+	7	1313	c.949A>T	c.(949-951)Aaa>Taa	p.K317*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	317	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.K317*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTACCAGGAAAACCTGGGAC	0.368000													7	22					0	0	0.001984	0	0
WSB1	26118	broad.mit.edu	37	17	25631888	25631888	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:25631888G>T	ENST00000262394.2	+	4	877	c.561G>T	c.(559-561)gtG>gtT	p.V187V	WSB1_ENST00000348811.2_Silent_p.V41V|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Silent_p.V187V|WSB1_ENST00000427287.2_Silent_p.V156V|WSB1_ENST00000579733.1_Silent_p.V41V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	187					intracellular signal transduction	intracellular	protein binding	p.V187V(1)		lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGATCCTGGTGTCAGCTTCAA	0.378000													28	117					6.38683e-12	1.18714e-11	0.001512	1	0
PTPRT	11122	broad.mit.edu	37	20	41306576	41306576	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:41306576G>C	ENST00000373198.3	-	7	1318	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	PTPRT_ENST00000373193.3_Silent_p.L361L|PTPRT_ENST00000373187.1_Silent_p.L361L|PTPRT_ENST00000373190.1_Silent_p.L361L|PTPRT_ENST00000373201.1_Silent_p.L361L|PTPRT_ENST00000356100.2_Silent_p.L361L|PTPRT_ENST00000373184.1_Silent_p.L361L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	361	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L361L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCGTGTGAGGAGCACTCGGA	0.572000													8	138					0	0	0.004482	0	0
OSBP2	23762	broad.mit.edu	37	22	31285535	31285535	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:31285535G>A	ENST00000332585.6	+	7	1639	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	OSBP2_ENST00000403222.3_Missense_Mutation_p.R346H|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.R145H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R511H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R254H|OSBP2_ENST00000407373.1_Missense_Mutation_p.R339H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R56H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	512					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGGCGAGTCCGCATTCCCAAC	0.597000													5	199					0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169510755	169510755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:169510755G>T	ENST00000367796.3	-	13	3789	c.3588C>A	c.(3586-3588)agC>agA	p.S1196R	F5_ENST00000367797.3_Missense_Mutation_p.S1191R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1191	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S1191R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGTCACCTGGCTGAGGTCTG	0.512000													102	313					8.27256e-43	1.9982e-42	0.003610	1	0
TNN	63923	broad.mit.edu	37	1	175096160	175096160	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:175096160C>A	ENST00000239462.4	+	13	3097	c.2984C>A	c.(2983-2985)cCc>cAc	p.P995H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P995H(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTGGACGCCCCCCTCTGCT	0.502000													13	124					7.03913e-09	1.15018e-08	0.001368	1	0
MYH8	4626	broad.mit.edu	37	17	10296216	10296216	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:10296216G>A	ENST00000403437.2	-	37	5489	c.5395C>T	c.(5395-5397)Cgt>Tgt	p.R1799C	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1799C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATCTAGACGATGCTGCAGG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	175					0	0	0.003610	0	0
USP16	10600	broad.mit.edu	37	21	30403014	30403014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:30403014G>T	ENST00000334352.4	+	4	391	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.D54Y|USP16_ENST00000399976.2_Missense_Mutation_p.D54Y	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	54					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.D54Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTGTAAGACTGACAATAAAGT	0.373000													11	66					0.00136819	0.00171024	0.001368	1	0
FGB	2244	broad.mit.edu	37	4	155490895	155490895	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:155490895C>A	ENST00000302068.4	+	7	1251	c.1188C>A	c.(1186-1188)acC>acA	p.T396T	FGB_ENST00000509493.1_Silent_p.T177T|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	396	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T396T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAACAGGACCATGACCATTC	0.458000													25	91					4.7796e-09	7.88713e-09	0.004656	1	0
PTPRB	5787	broad.mit.edu	37	12	70948941	70948941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:70948941A>T	ENST00000451516.2	-	17	4217	c.4218T>A	c.(4216-4218)gaT>gaA	p.D1406E	PTPRB_ENST00000550358.1_Splice_Site_p.D1626_splice|PTPRB_ENST00000538708.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000550857.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000261266.5_Splice_Site_p.D1496_splice|PTPRB_ENST00000334414.6_Splice_Site_p.D1714_splice	NM_001206971.1	NP_001193900.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1496	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1496E(2)|p.D1714E(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAACTTACCATCAGCCTCTC	0.423000													4	77					0	0	0.000248	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	100					0	0	0.000248	0	0
CACNA1C	775	broad.mit.edu	37	12	2714893	2714893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:2714893G>T	ENST00000399655.1	+	24	3362	c.3097G>T	c.(3097-3099)Gtg>Ttg	p.V1033L	CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1053L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1033L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1053L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1058L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1033L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1053					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.V1033L(2)|p.V1083L(1)|p.V1053L(1)|p.V568L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGGAACATCGTGATTGTCAC	0.587000													9	52					6.40141e-05	8.58098e-05	0.000978	1	0
RTEL1	51750	broad.mit.edu	37	20	62292695	62292695	+	Silent	SNP	G	G	C	rs114124243	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:62292695G>C	ENST00000318100.4	+	3	974	c.147G>C	c.(145-147)acG>acC	p.T49T	RTEL1_ENST00000370018.3_Silent_p.T49T|RTEL1_ENST00000360203.5_Silent_p.T49T|RTEL1_ENST00000508582.2_Silent_p.T49T|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T49T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	49	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.T49T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGGGAAGACGCTGTGCCTGC	0.627000													13	52					0	0	0.003163	0	0
SPATA6L	55064	broad.mit.edu	37	9	4625390	4625390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:4625390C>A	ENST00000454239.2	-	7	851	c.606G>T	c.(604-606)caG>caT	p.Q202H	SPATA6L_ENST00000381895.5_Missense_Mutation_p.Q79H|SPATA6L_ENST00000381890.5_Missense_Mutation_p.Q216H|SPATA6L_ENST00000475086.1_Missense_Mutation_p.Q144H			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	144								p.Q202H(1)									CAAGGTTCAACTGAGCTGGCT	0.428000													20	68					1.96292e-10	3.46806e-10	0.001523	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374287	95374287	+	RNA	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:95374287G>T	ENST00000494840.1	-	0	1574					NR_077228.1																						TTCTTCCCTAGGGTTGGAATG	0.453000													16	50					1.99824e-07	3.12224e-07	0.004990	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145473875	145473875	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:145473875T>A	ENST00000323397.4	+	4	1840	c.547T>A	c.(547-549)Tcg>Acg	p.S183T		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	183								p.S183T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTCTGCACGTCGCCTTCGGA	0.612000													21	99					0	0	0.001882	0	0
CD300LB	124599	broad.mit.edu	37	17	72527477	72527477	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:72527477G>T	ENST00000392621.1	-	1	128	c.124C>A	c.(124-126)Cct>Act	p.P42T	CD300LB_ENST00000314401.3_Missense_Mutation_p.P42T	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	5	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.P42T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGCAGAGCAGGGGGCAGCCAC	0.627000													13	47					9.04627e-18	1.95807e-17	0.001855	1	0
FUZ	80199	broad.mit.edu	37	19	50314895	50314895	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:50314895T>G	ENST00000313777.4	-	4	543	c.380A>C	c.(379-381)gAc>gCc	p.D127A	FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.D77A|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.D91A|FUZ_ENST00000445575.2_Missense_Mutation_p.D127A	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	127					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		p.D127A(1)		endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCCTCAAGTCCTTCTTCAG	0.547000													13	495					0	0	0.004007	0	0
COL3A1	1281	broad.mit.edu	37	2	189873907	189873907	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:189873907C>G	ENST00000304636.3	+	48	3953	c.3783C>G	c.(3781-3783)aaC>aaG	p.N1261K	COL3A1_ENST00000317840.5_Missense_Mutation_p.N958K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1261	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.N1261K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCGCTAGAAACTGCAGAGACC	0.403000													4	136					0	0	0.000248	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920027	5920027	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:5920027G>C	ENST00000399933.3	-	8	5968	c.5969C>G	c.(5968-5970)gCt>gGt	p.A1990G	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A1960G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1990								p.A1165G(1)|p.A1990G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGAACCTTAGCAGTTGTGTT	0.398000													35	193					0	0	0.004878	0	0
ATG16L1	55054	broad.mit.edu	37	2	234200895	234200895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:234200895C>T	ENST00000392017.4	+	15	1809	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	ATG16L1_ENST00000373525.5_Nonsense_Mutation_p.R339*|ATG16L1_ENST00000392020.4_Nonsense_Mutation_p.R499*|ATG16L1_ENST00000392018.1_Nonsense_Mutation_p.R535*|ATG16L1_ENST00000347464.5_Nonsense_Mutation_p.R355*	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	518					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R518*(1)|p.R177*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TATTGATCTCCGAACAAATGC	0.502000													16	56					0	0	0.003163	0	0
BCOR	54880	broad.mit.edu	37	X	39933626	39933626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:39933626G>T	ENST00000342274.4	-	4	1335	c.973C>A	c.(973-975)Ctg>Atg	p.L325M	BCOR_ENST00000397354.3_Missense_Mutation_p.L325M|BCOR_ENST00000378444.4_Missense_Mutation_p.L325M|BCOR_ENST00000378455.4_Missense_Mutation_p.L325M	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	325					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L325M(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCCCCGGCAGGCCACTGGTG	0.647000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	37					0.00116845	0.0014679	0.001168	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18602624	18602624	+	RNA	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:18602624G>A	ENST00000546162.2	+	0	1198					NR_003569.1																						TCCCCAAGCTGCTCAGGTGAG	0.587000													13	85					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13864666	13864666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:13864666C>A	ENST00000265104.4	-	28	4540	c.4436G>T	c.(4435-4437)tGt>tTt	p.C1479F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1479	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C1479F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCGGGCAACACTCGCTGAA	0.527000									Kartagener syndrome				28	60					1.77063e-15	3.56982e-15	0.005443	1	0
PLCB4	5332	broad.mit.edu	37	20	9438112	9438112	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:9438112G>C	ENST00000378501.2	+	30	3027	c.3012G>C	c.(3010-3012)acG>acC	p.T1004T	PLCB4_ENST00000334005.3_Silent_p.T1004T|PLCB4_ENST00000378473.3_Silent_p.T1016T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.T1004T|PLCB4_ENST00000414679.2_Silent_p.T1016T|PLCB4_ENST00000378493.1_Silent_p.T1004T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1004					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T1004T(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATTCAGACGCTGACATCAG	0.348000													15	73					0	0	0.006122	0	0
USP7	7874	broad.mit.edu	37	16	8995984	8995984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:8995984C>A	ENST00000344836.4	-	18	2200	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	USP7_ENST00000535863.1_Nonsense_Mutation_p.E569*|USP7_ENST00000381886.4_Nonsense_Mutation_p.E652*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	668	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E668*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCAGCCAGCTCGGGATCAACT	0.463000													8	84					0.000442599	0.00057036	0.006214	1	0
ZNF555	148254	broad.mit.edu	37	19	2852695	2852695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:2852695G>T	ENST00000334241.4	+	4	770	c.632G>T	c.(631-633)cGt>cTt	p.R211L	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTCCTCGTACTTCCTCC	0.448000													24	75					2.27525e-19	5.12445e-19	0.003954	1	0
ARMC3	219681	broad.mit.edu	37	10	23287230	23287230	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:23287230C>A	ENST00000298032.5	+	11	1413	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	ARMC3_ENST00000376528.4_Silent_p.A180A|ARMC3_ENST00000409983.3_Silent_p.A443A|ARMC3_ENST00000409049.3_Silent_p.A443A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	443							binding	p.A443A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATGCATGCCATCATCAGCC	0.542000													5	16					0.000602214	0.000768131	0.000602	1	0
LONRF3	79836	broad.mit.edu	37	X	118108865	118108865	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:118108865T>C	ENST00000365713.2	+	1	285	c.122T>C	c.(121-123)gTg>gCg	p.V41A	LONRF3_ENST00000304778.7_Missense_Mutation_p.V41A|LONRF3_ENST00000371628.3_Missense_Mutation_p.V41A			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	41					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.V41A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CACCCAAAGGTGGCTGCAGAG	0.662000													3	10					0	0	0.004672	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239767	135239767	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:135239767T>C	ENST00000265605.2	-	7	1318	c.1250A>G	c.(1249-1251)tAt>tGt	p.Y417C	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Y367C|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.Y363C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	417					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.Y417C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CGCCAGCCCATACTTAACGTT	0.552000													13	70					0	0	0.001368	0	0
SERPINB13	5275	broad.mit.edu	37	18	61259614	61259614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:61259614C>A	ENST00000344731.5	+	4	360	c.258C>A	c.(256-258)ttC>ttA	p.F86L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.F86L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	86					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.F86L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCAACAATTCCAAAAGTTTT	0.353000													12	62					0.000151284	0.000199584	0.001855	1	0
ZFP36	7538	broad.mit.edu	37	19	39898874	39898874	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:39898874G>A	ENST00000597629.1	+	2	608	c.534G>A	c.(532-534)ctG>ctA	p.L178L	ZFP36_ENST00000248673.3_Silent_p.L172L			P26651	TTP_HUMAN	ZFP36 ring finger protein	172					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.L172L(1)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGAAGACCTGGCGGCCCCGG	0.662000													27	122					0	0	0.004656	0	0
IPO7	10527	broad.mit.edu	37	11	9438673	9438673	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:9438673T>C	ENST00000379719.3	+	6	846	c.704T>C	c.(703-705)gTt>gCt	p.V235A		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	235					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.V235A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTAAAGACTGTTGTGAACAGG	0.294000													18	87					0	0	0.001523	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793517	30793517	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:30793517C>A	ENST00000458257.1	+	2	336	c.322C>A	c.(322-324)Cca>Aca	p.P108T	INMT_ENST00000013222.5_Missense_Mutation_p.P109T|INMT_ENST00000409539.1_Missense_Mutation_p.P108T|INMT_ENST00000484180.1_3'UTR														p.P109T(1)									TGACTGGACCCCAGCGGTGAA	0.572000													37	130					1.06647e-15	2.17647e-15	0.003755	1	0
LRRC32	2615	broad.mit.edu	37	11	76372209	76372209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:76372209C>A	ENST00000407242.2	-	3	670	c.428G>T	c.(427-429)cGg>cTg	p.R143L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R143L|LRRC32_ENST00000260061.5_Missense_Mutation_p.R143L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	143						integral to plasma membrane		p.R143L(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCCCAGCAGCCGCTCCAGCAG	0.687000													14	55					0.000219431	0.000287214	0.002450	1	0
IP6K3	117283	broad.mit.edu	37	6	33690860	33690860	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:33690860A>G	ENST00000451316.1	-	7	1405	c.870T>C	c.(868-870)aaT>aaC	p.N290N	IP6K3_ENST00000293756.4_Silent_p.N290N	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	290					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	p.N290N(1)		skin(1)	1						GGTGGCTTCCATTATGTAGGA	0.502000													22	54					0	0	0.002299	0	0
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:170871076G>A	ENST00000392092.2	+	3	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	84	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q84Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602000													5	38					0	0	0.000602	0	0
COL3A1	1281	broad.mit.edu	37	2	189859522	189859522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:189859522G>T	ENST00000304636.3	+	20	1590	c.1420G>T	c.(1420-1422)Ggt>Tgt	p.G474C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G474C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	474	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G474C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGAGAACCTGGTGCAAATGG	0.448000													12	93					7.93312e-07	1.16664e-06	0.002450	1	0
MFF	56947	broad.mit.edu	37	2	228205013	228205013	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:228205013A>T	ENST00000353339.3	+	6	876	c.435A>T	c.(433-435)cgA>cgT	p.R145R	MFF_ENST00000392059.1_Silent_p.R145R|MFF_ENST00000304593.9_Silent_p.R119R|MFF_ENST00000337110.7_Silent_p.R119R|MFF_ENST00000409565.1_Silent_p.R119R|MFF_ENST00000409616.1_Silent_p.R119R|MFF_ENST00000349901.7_Silent_p.R119R|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Silent_p.R119R	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	145						integral to membrane|mitochondrial outer membrane		p.R145R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AACAGATCCGAGCAGTTGGCA	0.428000													14	55					0	0	0.002450	0	0
LRFN5	145581	broad.mit.edu	37	14	42355863	42355863	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:42355863G>A	ENST00000554171.1	+	5	2467	c.35G>A	c.(34-36)gGc>gAc	p.G12D	LRFN5_ENST00000298119.4_Missense_Mutation_p.G12D|LRFN5_ENST00000554120.1_Missense_Mutation_p.G12D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	12						integral to membrane		p.G12D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTCTCATTGGCATAGCAGTG	0.373000										HNSCC(30;0.082)			11	52					0	0	0.000978	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142361	209142361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:209142361G>T	ENST00000264380.4	+	5	700	c.542G>T	c.(541-543)cGa>cTa	p.R181L	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R181L|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	181					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R181L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACCATTGCCGACTATGTGGG	0.403000													34	121					2.42023e-17	5.17144e-17	0.003271	1	0
SAMSN1	64092	broad.mit.edu	37	21	15872992	15872992	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:15872992T>C	ENST00000285670.2	-	7	1004	c.830A>G	c.(829-831)aAt>aGt	p.N277S	SAMSN1_ENST00000400566.1_Missense_Mutation_p.N209S|SAMSN1_ENST00000400564.1_Missense_Mutation_p.N41S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	209	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.N209S(1)|p.N277S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCCCACTTTATTGTTCAACAT	0.383000													23	130					0	0	0.002299	0	0
DVL3	1857	broad.mit.edu	37	3	183885372	183885372	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:183885372A>T	ENST00000313143.3	+	12	1451	c.1203A>T	c.(1201-1203)ctA>ctT	p.L401L	DVL3_ENST00000431765.1_Silent_p.L384L|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	401					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.L401L(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCAGGCCTAGACGACTTCC	0.527000													7	32					0	0	0.003080	0	0
FAM46D	169966	broad.mit.edu	37	X	79699123	79699123	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:79699123C>A	ENST00000538312.1	+	5	1419	c.1085C>A	c.(1084-1086)cCt>cAt	p.P362H	FAM46D_ENST00000308293.5_Missense_Mutation_p.P362H	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	362								p.P362H(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GCAAGGTACCCTATTTATGTA	0.428000													8	49					0.00448238	0.00549311	0.004482	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846140	18846140	+	RNA	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:18846140T>C	ENST00000412938.1	+	0	3498																											TAGGGCACCTTGGACCTCTCT	0.617000													3	26					0	0	0.006214	0	0
IGSF22	283284	broad.mit.edu	37	11	18745745	18745745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:18745745G>T	ENST00000513874.1	-	2	178	c.39C>A	c.(37-39)caC>caA	p.H13Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	13								p.H13Q(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCATGGACACGTGCTCCTGCA	0.597000													27	120					1.17739e-12	2.24693e-12	0.005443	1	0
ATP2B1	490	broad.mit.edu	37	12	90028574	90028574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:90028574C>A	ENST00000428670.3	-	5	1224	c.768G>T	c.(766-768)aaG>aaT	p.K256N	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K256N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	256					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K256N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTAAGGGATCCTTATCTAAAG	0.348000													8	38					7.48243e-07	1.11015e-06	0.006214	1	0
SLC17A4	10050	broad.mit.edu	37	6	25773866	25773866	+	Silent	SNP	G	G	C	rs146741384		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:25773866G>C	ENST00000377905.4	+	8	1070	c.951G>C	c.(949-951)acG>acC	p.T317T	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Silent_p.T87T	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	317					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.T317T(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCAACGTACATCAGCT	0.388000													46	64					0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64516346	64516346	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:64516346G>C	ENST00000358025.3	+	47	7625	c.7395G>C	c.(7393-7395)ttG>ttC	p.L2465F	SYNE2_ENST00000554584.1_Missense_Mutation_p.L2498F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L2465F|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2465					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L2465F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATACCCAGTTGGAAGCAAAGA	0.358000													7	43					0	0	0.001984	0	0
DENND5B	160518	broad.mit.edu	37	12	31633191	31633191	+	Splice_Site	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:31633191T>A	ENST00000389082.5	-	3	502		c.e3-2		DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B							integral to membrane		p.?(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CATGCACAACTGTGAAAGAAA	0.363000													3	5					0	0	0.004672	0	0
SCG2	7857	broad.mit.edu	37	2	224462975	224462975	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:224462975A>T	ENST00000305409.2	-	2	1258	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	342					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P342P(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGAATCAAGAGGTTTCTCAA	0.418000													19	152					0	0	0.007413	0	0
USP26	83844	broad.mit.edu	37	X	132160953	132160953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:132160953G>T	ENST00000511190.1	-	6	1765	c.1296C>A	c.(1294-1296)tgC>tgA	p.C432*	USP26_ENST00000370832.1_Nonsense_Mutation_p.C432*|USP26_ENST00000406273.1_Nonsense_Mutation_p.C432*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	432					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.C432*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAATGACAGGGCAAGAAAACC	0.378000													22	109					1.9806e-07	3.10439e-07	0.002299	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18602625	18602625	+	RNA	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:18602625C>T	ENST00000546162.2	+	0	1199					NR_003569.1																						CCCCAAGCTGCTCAGGTGAGT	0.582000													13	83					0	0	0.006122	0	0
GALNT15	117248	broad.mit.edu	37	3	16268973	16268973	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:16268973G>A	ENST00000339732.5	+	10	2389	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R629H(2)									CAGCAGTGGCGTTTTGACCAG	0.443000													9	77					0	0	0.001368	0	0
SYT4	6860	broad.mit.edu	37	18	40853633	40853633	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:40853633A>T	ENST00000255224.3	-	2	1129	c.761T>A	c.(760-762)aTt>aAt	p.I254N	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.I236N	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	254	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.I254N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AACTTCCCCAATGATATCATC	0.353000													8	53					0	0	0.003080	0	0
BBS2	583	broad.mit.edu	37	16	56519510	56519510	+	Missense_Mutation	SNP	C	C	T	rs138913160	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:56519510C>T	ENST00000245157.5	-	16	2471	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H	BBS2_ENST00000568104.1_Missense_Mutation_p.R638H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	684					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.R684H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACCCCGCAGACGACCTGCTCT	0.388000									Bardet-Biedl syndrome				5	184					0	0	0.000602	0	0
HIPK2	28996	broad.mit.edu	37	7	139416353	139416353	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:139416353C>A	ENST00000406875.3	-	2	575	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	HIPK2_ENST00000428878.2_Missense_Mutation_p.A161S|HIPK2_ENST00000342645.6_Missense_Mutation_p.A161S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	161	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.A161S(2)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCGACAGTGGCCCCGCTTGCA	0.557000													26	113					5.61819e-17	1.19536e-16	0.005443	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704299	56704299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:56704299C>A	ENST00000586855.2	-	2	436	c.123G>T	c.(121-123)gaG>gaT	p.E41D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E41D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E41D(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGCCAAGTCTCAGGGTTCC	0.577000													9	16					3.09899e-07	4.76767e-07	0.004482	1	0
HNRNPUL2	221092	broad.mit.edu	37	11	62490080	62490080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:62490080C>A	ENST00000301785.5	-	6	1280	c.1088G>T	c.(1087-1089)tGc>tTc	p.C363F	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.C363F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	363	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding	p.C363F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TACAGCAAAGCAGCCAATAAC	0.453000													8	64					5.4927e-09	9.03405e-09	0.004482	1	0
SKIL	6498	broad.mit.edu	37	3	170078605	170078605	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:170078605A>C	ENST00000458537.3	+	1	1195	c.486A>C	c.(484-486)gaA>gaC	p.E162D	SKIL_ENST00000259119.4_Missense_Mutation_p.E162D|SKIL_ENST00000426052.2_Missense_Mutation_p.E142D|SKIL_ENST00000413427.2_Missense_Mutation_p.E162D	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	162					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.E162D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGGAGGAGAAAAGAGACTCT	0.408000													3	134					0	0	0.000248	0	0
FGD1	2245	broad.mit.edu	37	X	54497808	54497808	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:54497808C>A	ENST00000375135.3	-	2	1153	c.420G>T	c.(418-420)ccG>ccT	p.P140P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	140	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P140P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGTTTCAGTCGGGGGACCTG	0.607000													32	79					8.88839e-20	2.01095e-19	0.002096	1	0
TRIM69	140691	broad.mit.edu	37	15	45059693	45059693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:45059693C>T	ENST00000558173.1	+	5	5359	c.614C>T	c.(613-615)cCt>cTt	p.P205L	TRIM69_ENST00000559390.1_Missense_Mutation_p.P409L|TRIM69_ENST00000338264.4_Missense_Mutation_p.P250L|TRIM69_ENST00000558329.1_Missense_Mutation_p.P188L|TRIM69_ENST00000561043.1_Missense_Mutation_p.P172L|TRIM69_ENST00000329464.4_Missense_Mutation_p.P409L|TRIM69_ENST00000560442.1_Missense_Mutation_p.P205L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	409					apoptosis	nuclear speck	zinc ion binding	p.P409L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCTCTAACTCCTGAGCAAGGA	0.448000													5	84					0	0	0.000602	0	0
WNT5A	7474	broad.mit.edu	37	3	55504432	55504432	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:55504432C>A	ENST00000474267.1	-	6	1352	c.831G>T	c.(829-831)cgG>cgT	p.R277R	WNT5A_ENST00000264634.4_Silent_p.R277R|WNT5A_ENST00000497027.1_Silent_p.R262R			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R370L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGCTGTTGAGCCGCATGGCCG	0.617000													3	18					0.00024832	0.000321658	0.000248	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157298	26157298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:26157298G>T	ENST00000325250.1	+	2	383	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	66							protein binding	p.G66*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCGCTTCAGGGAGCCCCATC	0.532000													12	46					1.61879e-10	2.8907e-10	0.001368	1	0
PTPRN2	5799	broad.mit.edu	37	7	157959945	157959945	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:157959945C>A	ENST00000389413.3	-	6	691	c.588G>T	c.(586-588)gtG>gtT	p.V196V	PTPRN2_ENST00000404321.2_Silent_p.V219V|PTPRN2_ENST00000409483.1_Silent_p.V158V|PTPRN2_ENST00000389416.4_Silent_p.V179V|PTPRN2_ENST00000389418.4_Silent_p.V196V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	196						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V196V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGTGTGGGCCACATAGGTCA	0.627000													10	78					0.000442599	0.00057036	0.006214	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013289	149013289	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:149013289C>G	ENST00000535454.1	+	4	792	c.243C>G	c.(241-243)agC>agG	p.S81R	MAGEA8_ENST00000286482.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000542674.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	81								p.S81R(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTGGAGCCAATCCGATG	0.597000													20	91					0	0	0.007413	0	0
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473000													15	59					0	0	0.003163	0	0
OR2B2	81697	broad.mit.edu	37	6	27879562	27879562	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:27879562C>G	ENST00000303324.2	-	1	612	c.536G>C	c.(535-537)tGt>tCt	p.C179S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGGGACTTCACAGAAGAAGTG	0.453000													25	128					0	0	0.006320	0	0
TNIK	23043	broad.mit.edu	37	3	170858245	170858245	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:170858245C>A	ENST00000436636.2	-	13	1619	c.1275G>T	c.(1273-1275)cgG>cgT	p.R425R	TNIK_ENST00000357327.5_Silent_p.R425R|TNIK_ENST00000475336.1_Silent_p.R425R|TNIK_ENST00000470834.1_Silent_p.R425R|TNIK_ENST00000538048.1_Silent_p.R425R|TNIK_ENST00000460047.1_Silent_p.R425R|TNIK_ENST00000369326.5_Silent_p.R425R|TNIK_ENST00000284483.8_Silent_p.R425R|TNIK_ENST00000488470.1_Silent_p.R425R|TNIK_ENST00000341852.6_Silent_p.R425R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	425	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R425R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCATAGTGCCGGCGCTGCT	0.652000													40	181					5.44703e-19	1.21045e-18	0.002222	1	0
HTR2A	3356	broad.mit.edu	37	13	47466725	47466725	+	Splice_Site	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:47466725C>A	ENST00000378688.4	-	2	544	c.412_splice	c.e2-1	p.G138_splice	HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice|HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	138					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.G138V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCACCGGTACCCTATGAGGCA	0.567000													16	58					6.94344e-10	1.19715e-09	0.006122	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871779	51871779	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:51871779G>A	ENST00000371497.5	+	2	2669	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	TSHZ2_ENST00000329613.6_Silent_p.L591L|TSHZ2_ENST00000603338.2_Silent_p.L591L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	594					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACACACCTGGCCCCTTACA	0.517000													29	150					0	0	0.001512	0	0
LRRC66	339977	broad.mit.edu	37	4	52860731	52860731	+	Silent	SNP	C	C	A	rs137931708	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:52860731C>A	ENST00000343457.3	-	4	2463	c.2457G>T	c.(2455-2457)ccG>ccT	p.P819P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane		p.P819P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAACATGCCCGGAAACTCAT	0.468000													13	71					1.61879e-10	2.8907e-10	0.001368	1	0
MUC16	94025	broad.mit.edu	37	19	9074617	9074617	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:9074617T>A	ENST00000397910.4	-	3	13032	c.12829A>T	c.(12829-12831)Acc>Tcc	p.T4277S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4279	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4277S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGGGAGGTAACCAATGGA	0.493000													17	66					0	0	0.004990	0	0
PAOX	196743	broad.mit.edu	37	10	135203244	135203244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:135203244G>T	ENST00000278060.5	+	6	1468	c.1385G>T	c.(1384-1386)gGc>gTc	p.G462V	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	600					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACGGCGCCGGCGCCCAGGTA	0.736000													4	30					0.000602214	0.000768131	0.000602	1	0
OR4A47	403253	broad.mit.edu	37	11	48510785	48510785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:48510785G>T	ENST00000446524.1	+	1	517	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TAGTGTCCTGGGTTGGAGGAT	0.443000													21	101					1.01871e-10	1.84549e-10	0.001216	1	0
CCDC40	55036	broad.mit.edu	37	17	78023992	78023992	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:78023992A>T	ENST00000397545.4	+	7	1096	c.1069A>T	c.(1069-1071)Agc>Tgc	p.S357C	CCDC40_ENST00000374877.3_Missense_Mutation_p.S357C|CCDC40_ENST00000374876.4_Missense_Mutation_p.S357C|CCDC40_ENST00000269318.5_Missense_Mutation_p.S357C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	357					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.S357C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AATGGCCTCGAGCGAGCGCAG	0.632000													8	22					0	0	0.003080	0	0
HKDC1	80201	broad.mit.edu	37	10	71010090	71010090	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:71010090C>T	ENST00000354624.5	+	11	1748	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R539W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	539					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.R539W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AACCAACTTCCGGGTCCTCCT	0.542000													22	208					0	0	0.001882	0	0
HSPB7	27129	broad.mit.edu	37	1	16342123	16342123	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:16342123C>A	ENST00000311890.9	-	3	1291	c.465G>T	c.(463-465)ccG>ccT	p.P155P	HSPB7_ENST00000375718.4_Silent_p.P230P|HSPB7_ENST00000487046.1_Silent_p.P160P|HSPB7_ENST00000411503.1_Silent_p.P150P|HSPB7_ENST00000406363.2_Silent_p.P159P	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	155					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	p.P155P(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTGTATGCGGGTGACGCC	0.652000													19	32					8.34094e-07	1.21944e-06	0.001216	1	0
KIF5C	3800	broad.mit.edu	37	2	149840154	149840154	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:149840154G>T	ENST00000435030.1	+	15	1958	c.1590G>T	c.(1588-1590)caG>caT	p.Q530H	KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.Q435H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q298H			O60282	KIF5C_HUMAN	kinesin family member 5C	530					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q530H(1)|p.Q433H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACCACACAGAGAGAGCTGA	0.413000													9	50					7.48243e-07	1.11015e-06	0.006214	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142567310	142567310	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:142567310G>T	ENST00000295992.3	-	3	503	c.197C>A	c.(196-198)cCc>cAc	p.P66H	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P66H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	66	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.P66H(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTTTCCTTCGGGAACCTGCCA	0.413000													21	63					8.04996e-18	1.74999e-17	0.001882	1	0
HCFC1	3054	broad.mit.edu	37	X	153219071	153219071	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:153219071C>A	ENST00000310441.7	-	18	5450	c.4484G>T	c.(4483-4485)gGc>gTc	p.G1495V	HCFC1_ENST00000369984.4_Missense_Mutation_p.G1495V|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1426V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1495					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G1495V(1)|p.G1398V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGAGGGGCCCGGGACCGG	0.652000													13	62					0.00185496	0.00230716	0.001855	1	0
EYA2	2139	broad.mit.edu	37	20	45633640	45633640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:45633640C>A	ENST00000327619.5	+	4	589	c.215C>A	c.(214-216)aCg>aAg	p.T72K	EYA2_ENST00000317304.6_Missense_Mutation_p.T72K|EYA2_ENST00000357410.3_Missense_Mutation_p.T72K	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	72					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.T72K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TACGGCCAGACGCAGTACAGT	0.562000													31	137					3.57733e-08	5.71458e-08	0.001786	1	0
OMG	4974	broad.mit.edu	37	17	29622582	29622582	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:29622582G>T	ENST00000247271.4	-	2	1029	c.768C>A	c.(766-768)acC>acA	p.T256T	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	256					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)|p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATGATATTTGGGTAGAACATG	0.398000													15	112					3.27435e-08	5.26423e-08	0.002450	1	0
MEOX1	4222	broad.mit.edu	37	17	41738726	41738726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:41738726G>T	ENST00000318579.4	-	1	596	c.177C>A	c.(175-177)taC>taA	p.Y59*	MEOX1_ENST00000329168.3_Nonsense_Mutation_p.Y59*|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000549132.1_Missense_Mutation_p.T30N	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	59						nucleus	sequence-specific DNA binding	p.Y59*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		AGAAGTCAGGGTACGCTGCCG	0.647000													11	72					3.86212e-05	5.23322e-05	0.000673	1	0
GPR64	10149	broad.mit.edu	37	X	19027777	19027777	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:19027777A>T	ENST00000379878.3	-	17	1582	c.1341T>A	c.(1339-1341)acT>acA	p.T447T	GPR64_ENST00000360279.4_Silent_p.T441T|GPR64_ENST00000379869.3_Silent_p.T463T|GPR64_ENST00000357991.3_Silent_p.T460T|GPR64_ENST00000379876.1_Silent_p.T439T|GPR64_ENST00000379873.2_Silent_p.T463T|GPR64_ENST00000340581.3_Silent_p.T433T|GPR64_ENST00000357544.3_Silent_p.T433T|GPR64_ENST00000356606.4_Silent_p.T449T|GPR64_ENST00000354791.3_Silent_p.T447T	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	463					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.T460T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCACAAAGGTAGTTGTGTTGA	0.423000													16	104					0	0	0.006122	0	0
NAV3	89795	broad.mit.edu	37	12	78444565	78444565	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:78444565C>A	ENST00000397909.2	+	11	2327	c.2154C>A	c.(2152-2154)gaC>gaA	p.D718E	NAV3_ENST00000536525.2_Missense_Mutation_p.D718E|NAV3_ENST00000266692.7_Missense_Mutation_p.D718E|NAV3_ENST00000228327.6_Missense_Mutation_p.D718E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	718						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D718E(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACATTTGACAGCACTGTGA	0.473000										HNSCC(70;0.22)			16	82					2.4624e-09	4.11772e-09	0.001216	1	0
TMTC1	83857	broad.mit.edu	37	12	29669312	29669312	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:29669312G>T	ENST00000256062.5	-	15	2426	c.1953C>A	c.(1951-1953)gcC>gcA	p.A651A	TMTC1_ENST00000551659.1_Silent_p.A821A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.A759A|TMTC1_ENST00000552618.1_Silent_p.A783A	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	759						integral to membrane	binding	p.A651A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGCTATAGATGGCTGACAAGA	0.448000													27	119					2.44723e-14	4.81738e-14	0.004656	1	0
ZNF728	388523	broad.mit.edu	37	19	23159803	23159803	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:23159803C>A	ENST00000594710.1	-	4	481	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CAATTTTTAACTGTAAATTCT	0.358000													19	46					5.3912e-06	7.65796e-06	0.006122	1	0
SPATA6L	55064	broad.mit.edu	37	9	4625413	4625413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:4625413A>C	ENST00000454239.2	-	7	828	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V	SPATA6L_ENST00000381895.5_Missense_Mutation_p.F72V|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Missense_Mutation_p.F209V|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F137V			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	137								p.F195V(1)									TCCTGGAAGAAATGCCTGGTA	0.433000													19	71					0	0	0.007413	0	0
RXRG	6258	broad.mit.edu	37	1	165370562	165370562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:165370562C>A	ENST00000359842.5	-	10	1632	c.1330G>T	c.(1330-1332)Ggg>Tgg	p.G444W		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	444	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.G444W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GGGGTGTCCCCGATGAGCTTG	0.602000													41	114					4.01765e-15	8.06758e-15	0.002222	1	0
NEFL	4747	broad.mit.edu	37	8	24811218	24811218	+	RNA	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:24811218G>A	ENST00000221169.5	-	0	1855							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.R421*(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TAGGCAGATCGGCCAAAGACC	0.572000													13	78					0	0	0.002450	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591074	56591074	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:56591074C>G	ENST00000338222.5	+	1	1049	c.768C>G	c.(766-768)agC>agG	p.S256R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	256						cytoplasm|nucleus|plasma membrane	binding	p.S256R(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TGGCTCTTAGCAATCTAGAAA	0.483000													14	71					0	0	0.002450	0	0
NXPE3	91775	broad.mit.edu	37	3	101520396	101520396	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:101520396G>T	ENST00000422132.1	+	2	608	c.411G>T	c.(409-411)aaG>aaT	p.K137N	NXPE3_ENST00000273347.5_Missense_Mutation_p.K137N|NXPE3_ENST00000477909.1_Missense_Mutation_p.K137N|NXPE3_ENST00000491511.1_Missense_Mutation_p.K137N					neurexophilin and PC-esterase domain family, member 3									p.K137N(1)									GAAAGCCCAAGAAGTATGGTG	0.512000													11	65					3.86212e-05	5.23322e-05	0.000673	1	0
KIAA2026	158358	broad.mit.edu	37	9	5920648	5920648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:5920648C>A	ENST00000399933.3	-	8	5347	c.5348G>T	c.(5347-5349)cGg>cTg	p.R1783L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R1753L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1783								p.R1783L(1)|p.R958L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GAGTGAAGTCCGAGATTGTCT	0.418000													116	487					3.35115e-56	8.13385e-56	0.003610	1	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	76					0	0	0.006214	0	0
BIRC2	329	broad.mit.edu	37	11	102239138	102239138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:102239138G>T	ENST00000227758.2	+	6	2624	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L	BIRC2_ENST00000530675.1_Missense_Mutation_p.V360L|BIRC2_ENST00000532672.1_Missense_Mutation_p.V388L|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	409					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	p.V409L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAGAGACCTGGTGAAACAAAC	0.363000													17	103					4.14922e-12	7.77007e-12	0.004007	1	0
EVL	51466	broad.mit.edu	37	14	100604129	100604129	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:100604129C>G	ENST00000544450.2	+	11	1379	c.1096C>G	c.(1096-1098)Cct>Gct	p.P366A	EVL_ENST00000392920.3_Missense_Mutation_p.P362A|EVL_ENST00000402714.2_Missense_Mutation_p.P360A			Q9UI08	EVL_HUMAN	Enah/Vasp-like	360	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	p.P362A(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TCAGTCGCAGCCTCACTCTAG	0.607000													16	91					0	0	0.004007	0	0
OR2M7	391196	broad.mit.edu	37	1	248487446	248487446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:248487446C>A	ENST00000317965.2	-	1	453	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G142V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGTCATAAGTCCACAAATTTT	0.478000													74	297					1.8615e-32	4.45335e-32	0.003610	1	0
CCL4	6351	broad.mit.edu	37	17	34432678	34432678	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:34432678G>T	ENST00000250151.4	+	3	568	c.252G>T	c.(250-252)gaG>gaT	p.E84D	CCL4_ENST00000394495.1_Missense_Mutation_p.S46I	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	84					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	p.E84D(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGTCCAGGAGTACGTGTATG	0.502000													17	122					1.56452e-12	2.95193e-12	0.007413	1	0
EWSR1	2130	broad.mit.edu	37	22	29664333	29664333	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:29664333C>T	ENST00000397938.2	+	1	327	c.8C>T	c.(7-9)tCc>tTc	p.S3F	EWSR1_ENST00000332035.6_Missense_Mutation_p.S3F|EWSR1_ENST00000406548.1_Missense_Mutation_p.S3F|EWSR1_ENST00000333395.6_Missense_Mutation_p.S3F|EWSR1_ENST00000414183.2_Missense_Mutation_p.S3F|EWSR1_ENST00000332050.6_Missense_Mutation_p.S3F|EWSR1_ENST00000331029.7_Missense_Mutation_p.S3F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	3	EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.S3F(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAATGGCGTCCACGGGTGAG	0.632000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								5	214					0	0	0.001168	0	0
CCDC173	129881	broad.mit.edu	37	2	170502572	170502572	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:170502572C>T	ENST00000447353.1	-	9	1543	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.E474K(1)									GATTCAAGTTCAATTACCTCT	0.413000													9	397					0	0	0.004482	0	0
OR51E2	81285	broad.mit.edu	37	11	4703764	4703764	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:4703764G>A	ENST00000396950.3	-	2	417	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L60F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAGAAAGAGGTACATCGGA	0.507000													18	73					0	0	0.004990	0	0
AIFM1	9131	broad.mit.edu	37	X	129271088	129271088	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:129271088T>A	ENST00000287295.3	-	10	1270	c.1040A>T	c.(1039-1041)tAc>tTc	p.Y347F	AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.Y343F|AIFM1_ENST00000460436.2_Missense_Mutation_p.Y8F|AIFM1_ENST00000346424.2_Missense_Mutation_p.Y60F|AIFM1_ENST00000440263.1_5'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	347	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Y347F(1)|p.Y343F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GTTGCTGAGGTATTCGGGGAG	0.468000													32	150					0	0	0.004878	0	0
FSCB	84075	broad.mit.edu	37	14	44975985	44975985	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:44975985G>T	ENST00000340446.4	-	1	497	c.206C>A	c.(205-207)aCt>aAt	p.T69N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	69						cilium		p.T69N(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGACTTACTAGTCATTTCCTG	0.423000													27	129					7.92952e-12	1.46843e-11	0.003954	1	0
APOL4	80832	broad.mit.edu	37	22	36587606	36587606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:36587606G>C	ENST00000332987.1	-	7	983	c.561C>G	c.(559-561)atC>atG	p.I187M	APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.I190M|APOL4_ENST00000405511.1_3'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	191					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	p.I190M(1)		lung(1)	1						TGTTCTCCACGATGCTGGAGG	0.547000													10	23					0	0	0.006214	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847232	65847232	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:65847232A>T	ENST00000261875.5	+	3	304	c.138A>T	c.(136-138)ggA>ggT	p.G46G	PTPLAD1_ENST00000442729.2_Silent_p.G46G|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.G21G|PTPLAD1_ENST00000565299.1_Silent_p.G84G|PTPLAD1_ENST00000569894.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	46	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	p.G46G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGCTCAAGGACATGGTGCCA	0.438000													27	198					0	0	0.005443	0	0
WNT5A	7474	broad.mit.edu	37	3	55504433	55504433	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:55504433C>A	ENST00000474267.1	-	6	1351	c.830G>T	c.(829-831)cGg>cTg	p.R277L	WNT5A_ENST00000264634.4_Missense_Mutation_p.R277L|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R370L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GCTGTTGAGCCGCATGGCCGC	0.612000													3	18					0.00024832	0.000321658	0.000248	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821398	5821398	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:5821398C>A	ENST00000381095.3	-	5	1948	c.1321G>T	c.(1321-1323)Gtg>Ttg	p.V441L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	441					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V441L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGAGAGCCACCAGGGTTTTC	0.597000													16	57					6.49762e-13	1.24954e-12	0.006122	1	0
MYO10	4651	broad.mit.edu	37	5	16701144	16701144	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:16701144G>C	ENST00000513610.1	-	25	3814	c.3360C>G	c.(3358-3360)gaC>gaG	p.D1120E	MYO10_ENST00000274203.9_Missense_Mutation_p.D477E|MYO10_ENST00000427430.2_Missense_Mutation_p.D477E|MYO10_ENST00000505695.1_Missense_Mutation_p.D459E|MYO10_ENST00000515803.1_Missense_Mutation_p.D459E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1120					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.D1120E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCAGCGGTAGTCGGGGGACC	0.627000													4	6					0	0	0.000248	0	0
DLK1	8788	broad.mit.edu	37	14	101200835	101200835	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:101200835C>T	ENST00000341267.4	+	5	996	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	252					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.P252S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGCGCTGAGCCCCCAGCAGGT	0.677000													12	58					0	0	0.001855	0	0
KCNH2	3757	broad.mit.edu	37	7	150644045	150644045	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:150644045G>T	ENST00000392968.2	-	12	4082	c.2962C>A	c.(2962-2964)Ccg>Acg	p.P988T	KCNH2_ENST00000262186.5_Missense_Mutation_p.P1084T|KCNH2_ENST00000330883.4_Missense_Mutation_p.P744T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1084					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.P1084T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCAGGCCCCGGGGTGGTCACA	0.662000													18	97					8.34094e-07	1.21944e-06	0.001216	1	0
NUP210	23225	broad.mit.edu	37	3	13417095	13417095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:13417095T>A	ENST00000254508.5	-	11	1422	c.1340A>T	c.(1339-1341)gAg>gTg	p.E447V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	447					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.E447G(1)|p.E447V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AATTTCCACCTCCTGCTGGTT	0.527000													27	121					0	0	0.002096	0	0
BRPF3	27154	broad.mit.edu	37	6	36196766	36196766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:36196766G>T	ENST00000357641.6	+	12	3620	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	BRPF3_ENST00000534400.1_Missense_Mutation_p.R1090I|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.E789*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.E853*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.E853*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.E789*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1123	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.E1123*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAAGCTGGGAGAGCAGAAACA	0.602000													27	63					2.79863e-10	4.90988e-10	0.004656	1	0
CSMD3	114788	broad.mit.edu	37	8	114186001	114186001	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:114186001G>T	ENST00000297405.5	-	4	903	c.659C>A	c.(658-660)gCc>gAc	p.A220D	CSMD3_ENST00000455883.2_Missense_Mutation_p.A220D|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.A220D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A180D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	220	Sushi 1.					integral to membrane|plasma membrane		p.A220D(1)|p.A180D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGAATTGGCTATGCAGGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	99					1.10513e-12	2.11711e-12	0.002299	1	0
POM121L12	285877	broad.mit.edu	37	7	53103500	53103500	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:53103500C>A	ENST00000408890.4	+	1	152	c.136C>A	c.(136-138)Ccc>Acc	p.P46T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	46								p.P46T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACGCCATCTCCCCAGGGTCG	0.677000													10	39					1.08611e-07	1.70772e-07	0.000978	1	0
ACTG2	72	broad.mit.edu	37	2	74146648	74146648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:74146648C>A	ENST00000409624.1	+	10	1720	c.1077C>A	c.(1075-1077)agC>agA	p.S359R	ACTG2_ENST00000409731.3_Missense_Mutation_p.S316R|ACTG2_ENST00000345517.3_Missense_Mutation_p.S359R			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	359					muscle contraction	cytoskeleton|cytosol	ATP binding	p.S359R(1)		large_intestine(3)|lung(14)|skin(1)	18						TGTGGATCAGCAAGCCTGAGT	0.532000													27	80					8.24728e-16	1.69697e-15	0.004656	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092221	151092221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:151092221C>A	ENST00000370335.1	+	3	352	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	MAGEA4_ENST00000370337.4_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393920.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370340.3_Missense_Mutation_p.Q29K			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	29							protein binding	p.Q29K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGTGCACAGGCTCCTAC	0.612000													23	80					2.89027e-11	5.27421e-11	0.002299	1	0
FAM47A	158724	broad.mit.edu	37	X	34148514	34148514	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:34148514G>A	ENST00000346193.3	-	1	1933	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	628								p.L628L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAGTCAAACAGATTCCTGATG	0.443000													21	85					0	0	0.001216	0	0
STX2	2054	broad.mit.edu	37	12	131293251	131293251	+	Splice_Site	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:131293251T>A	ENST00000261653.6	-	5	447		c.e5-2		STX2_ENST00000392373.2_Splice_Site	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GTTCAATAGCTAGGAACAAAT	0.353000													51	226					0	0	0.003610	0	0
UVSSA	57654	broad.mit.edu	37	4	1343559	1343559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:1343559G>T	ENST00000389851.4	+	3	793	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	UVSSA_ENST00000511216.1_Missense_Mutation_p.A116S|UVSSA_ENST00000507531.1_Missense_Mutation_p.A116S	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	116								p.A116S(1)									GACCACCCGGGCCGTGGAAGG	0.632000													9	46					9.70103e-10	1.66113e-09	0.000673	1	0
WSB1	26118	broad.mit.edu	37	17	25630509	25630509	+	Missense_Mutation	SNP	T	T	C	rs142114425		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:25630509T>C	ENST00000262394.2	+	3	642	c.326T>C	c.(325-327)aTa>aCa	p.I109T	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.I109T|WSB1_ENST00000427287.2_Missense_Mutation_p.I78T|WSB1_ENST00000579733.1_Intron	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	109					intracellular signal transduction	intracellular	protein binding	p.I109T(1)		lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGTGGAGATATAGTCTGGAGT	0.383000													32	123					0	0	0.002445	0	0
ASB5	140458	broad.mit.edu	37	4	177142368	177142368	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:177142368G>A	ENST00000296525.3	-	5	721	c.608C>T	c.(607-609)aCt>aTt	p.T203I	ASB5_ENST00000512254.1_Missense_Mutation_p.T150I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	203					intracellular signal transduction			p.T203I(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAGAGAGGAGTTCCCAAATG	0.408000													20	65					0	0	0.001216	0	0
WDR70	55100	broad.mit.edu	37	5	37725121	37725121	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527000													11	971					0	0	0.000673	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387450	119387450	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:119387450C>A	ENST00000326624.2	+	2	408	c.180C>A	c.(178-180)ctC>ctA	p.L60L	ZBTB33_ENST00000557385.1_Silent_p.L60L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	60	BTB.|Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.L60L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCATCAGCTCTTCTCTGTTG	0.393000													53	303					4.88506e-25	1.14673e-24	0.003610	1	0
RAVER1	125950	broad.mit.edu	37	19	10444193	10444193	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:10444193C>T	ENST00000293677.6	-	1	123	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.G14G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TCTTGGGAAACCCGGCGCCTT	0.716000													3	22					0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	74					0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	3076867	3076867	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:3076867C>G	ENST00000520002.1	-	30	5140	c.4585G>C	c.(4585-4587)Gaa>Caa	p.E1529Q	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1529Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1529Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1529Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1529	CUB 9.					integral to membrane		p.E1528Q(1)|p.E1257Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTATTCTTTCTGGGGCCTGA	0.498000													2	3					0	0	0.004672	0	0
TAF1A	9015	broad.mit.edu	37	1	222736579	222736579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:222736579C>A	ENST00000350027.4	-	9	1174	c.1021G>T	c.(1021-1023)Gga>Tga	p.G341*	TAF1A_ENST00000391882.1_Nonsense_Mutation_p.G227*|TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G341*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.G227*	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	341					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.G341*(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTAGTGCATCCGGCAAAATCT	0.333000													12	58					1.08611e-07	1.70772e-07	0.000978	1	0
YTHDC1	91746	broad.mit.edu	37	4	69195782	69195782	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:69195782C>A	ENST00000344157.4	-	9	1622	c.1287G>T	c.(1285-1287)gtG>gtT	p.V429V	YTHDC1_ENST00000355665.3_Silent_p.V411V|YTHDC1_ENST00000579690.1_Silent_p.V429V	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	429	YTH.							p.V429V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGCTGGAAGCACCCAGTGTA	0.353000													19	97					1.56452e-12	2.95193e-12	0.007413	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924235	45924235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:45924235G>T	ENST00000395629.2	+	5	1217	c.887G>T	c.(886-888)cGg>cTg	p.R296L	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R306L			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	306					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R306L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACTGAGAGCCGGATGTCAGTC	0.667000													5	36					1.23904e-05	1.71612e-05	0.000602	1	0
BTBD8	284697	broad.mit.edu	37	1	92554451	92554451	+	Splice_Site	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:92554451C>T	ENST00000370382.3	+	2	613	c.347_splice	c.e2+1	p.Q116_splice	BTBD8_ENST00000540648.1_Splice_Site_p.Q116_splice|BTBD8_ENST00000342818.3_Splice_Site_p.Q116_splice			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	116	BTB 1.					nucleus		p.Q116*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AACGTTTTTACAGTAAGTGCT	0.274000													7	49					0	0	0.001984	0	0
CNGA4	1262	broad.mit.edu	37	11	6260974	6260974	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:6260974G>T	ENST00000379936.2	+	3	340	c.225G>T	c.(223-225)acG>acT	p.T75T	CNGA4_ENST00000533426.1_Silent_p.T35T	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	75					response to stimulus|sensory perception of smell		cAMP binding	p.T75T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACTACACGAGTGACCTGC	0.537000													6	20					2.0095e-06	2.89553e-06	0.001984	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220406195	220406195	+	Silent	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:220406195T>C	ENST00000358951.2	-	2	242	c.126A>G	c.(124-126)acA>acG	p.T42T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	42					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.T42T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTCCCAGTCTGTTGATTTAC	0.338000													13	94					0	0	0.001855	0	0
DNAH9	1770	broad.mit.edu	37	17	11592912	11592912	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:11592912T>A	ENST00000262442.3	+	20	3841	c.3773T>A	c.(3772-3774)cTg>cAg	p.L1258Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1258Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1258	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1258Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCAAATGCTGGATGCCAGG	0.483000													42	83					0	0	0.002522	0	0
TNXB	7148	broad.mit.edu	37	6	32035686	32035686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:32035686C>A	ENST00000375244.3	-	18	6497	c.6296G>T	c.(6295-6297)gGg>gTg	p.G2099V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2099V			P22105	TENX_HUMAN	tenascin XB	2171	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2099V(1)|p.G2186V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTTAGCTCCCCCAGGAGCGG	0.647000													45	87					6.21074e-16	1.28854e-15	0.002852	1	0
HYDIN	54768	broad.mit.edu	37	16	70977730	70977730	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:70977730C>T	ENST00000393567.2	-	42	6804	c.6654G>A	c.(6652-6654)ctG>ctA	p.L2218L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2218								p.L2217L(1)|p.L2169L(1)		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)				TCCGCTCTGCCAGGATCTGCA	0.627000													9	46					0	0	0.000673	0	0
USP29	57663	broad.mit.edu	37	19	57641649	57641649	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:57641649A>G	ENST00000254181.4	+	4	2060	c.1606A>G	c.(1606-1608)Agt>Ggt	p.S536G	USP29_ENST00000598197.1_Missense_Mutation_p.S536G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	536					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAATCTTTAAGTTTATCTTC	0.423000													3	247					0	0	0.004672	0	0
UNC45B	146862	broad.mit.edu	37	17	33513323	33513323	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:33513323C>A	ENST00000268876.5	+	20	2638	c.2541C>A	c.(2539-2541)acC>acA	p.T847T	UNC45B_ENST00000394570.2_Silent_p.T845T|UNC45B_ENST00000433649.1_Silent_p.T845T|UNC45B_ENST00000378449.1_Silent_p.T766T|UNC45B_ENST00000591048.1_Silent_p.T766T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	847					cell differentiation|muscle organ development	cytosol	binding	p.T847T(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCAGACAACCCAGTGGTTGG	0.557000													14	68					7.93312e-07	1.16664e-06	0.002450	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531794	84531794	+	RNA	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:84531794T>A	ENST00000527857.1	+	0	1816					NR_026851.1																						ATCCCAGCCCTACTACCTAGT	0.502000													16	30					0	0	0.003163	0	0
PCNT	5116	broad.mit.edu	37	21	47783460	47783460	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:47783460G>A	ENST00000359568.5	+	14	2327	c.2220G>A	c.(2218-2220)ctG>ctA	p.L740L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	740	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.L740L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGACTGAGCTGATGAAACAGG	0.388000													39	137					0	0	0.004289	0	0
GPHB5	122876	broad.mit.edu	37	14	63784422	63784422	+	RNA	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:63784422G>T	ENST00000539258.1	-	0	198							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.P48T(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGCAGCCTGGCTTCTTGGCC	0.597000													8	40					5.18039e-06	7.37947e-06	0.003080	1	0
ELOVL2	54898	broad.mit.edu	37	6	10995243	10995243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:10995243G>T	ENST00000354666.3	-	5	585	c.502C>A	c.(502-504)Caa>Aaa	p.Q168K		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	168					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.Q168K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AACTTACTTTGTCCACAAGGT	0.383000													25	151					6.32553e-13	1.22588e-12	0.004656	1	0
SYN3	8224	broad.mit.edu	37	22	33260992	33260992	+	Splice_Site	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:33260992C>A	ENST00000358763.2	-	6	864		c.e6-1		SYN3_ENST00000332840.5_Splice_Site	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III						neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTGAGAGAACTAGGATAGAA	0.473000													25	150					6.12954e-19	1.35012e-18	0.004656	1	0
FAT4	79633	broad.mit.edu	37	4	126370833	126370833	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:126370833G>C	ENST00000394329.3	+	9	8675	c.8662G>C	c.(8662-8664)Ggc>Cgc	p.G2888R	FAT4_ENST00000335110.5_Missense_Mutation_p.G1186R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2888	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2888R(2)		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						TACTGAGATTGGCTCCAAAGT	0.353000													17	124					0	0	0.006122	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220782	118220782	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:118220782C>T	ENST00000402510.2	-	11	4410	c.4411G>A	c.(4411-4413)Gat>Aat	p.D1471N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1471								p.D1295N(1)|p.D1471N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTCAACATCATCCTGATTG	0.438000													4	79					0	0	0.000248	0	0
RYR2	6262	broad.mit.edu	37	1	237656342	237656342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:237656342G>T	ENST00000366574.2	+	19	2233	c.1916G>T	c.(1915-1917)gGa>gTa	p.G639V	RYR2_ENST00000542537.1_Missense_Mutation_p.G623V|RYR2_ENST00000360064.6_Missense_Mutation_p.G637V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	639	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G637V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCTACCAGGAAGAGACTTG	0.438000													8	31					0.00307968	0.00380207	0.003080	1	0
IL6R	3570	broad.mit.edu	37	1	154422457	154422457	+	Splice_Site	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:154422457G>A	ENST00000368485.3	+	8	1503		c.e8+1		IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Splice_Site	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor						acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.?(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCCCAGGTAAGGACTGG	0.433000													4	83					0	0	0.000248	0	0
PC	5091	broad.mit.edu	37	11	66631269	66631269	+	Silent	SNP	C	C	A	rs148281644	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:66631269C>A	ENST00000393960.1	-	12	1625	c.1344G>T	c.(1342-1344)gcG>gcT	p.A448A	PC_ENST00000355677.3_Silent_p.A448A|PC_ENST00000524491.1_Silent_p.A408A|PC_ENST00000393955.2_Silent_p.A448A|PC_ENST00000393958.2_Silent_p.A448A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	448	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.A448A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCGGAACTCCGCAAGGGCCC	0.662000													31	177					1.88708e-17	4.06699e-17	0.001512	1	0
ACRC	93953	broad.mit.edu	37	X	70824043	70824043	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:70824043G>T	ENST00000373695.1	+	7	1453	c.916G>T	c.(916-918)Gac>Tac	p.D306Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D306Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	306	Asp/Ser-rich.					nucleus		p.D306Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAAGAG	0.512000													46	264					2.77807e-22	6.40108e-22	0.003214	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8221720	8221720	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:8221720A>T	ENST00000361926.3	+	10	1830	c.1720A>T	c.(1720-1722)Aca>Tca	p.T574S	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T574S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	574	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T574S(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTGCGCCAGACAGAAGAGGG	0.632000													15	141					0	0	0.004990	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812741	31812741	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:31812741C>G	ENST00000334067.3	+	1	145	c.96C>G	c.(94-96)agC>agG	p.S32R		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	32						intermediate filament		p.S32R(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TCTACCCCAGCAATGCCATCT	0.478000													18	96					0	0	0.004990	0	0
BLK	640	broad.mit.edu	37	8	11414294	11414294	+	Silent	SNP	C	C	T	rs139994406	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:11414294C>T	ENST00000259089.4	+	9	1492	c.900C>T	c.(898-900)taC>taT	p.Y300Y	RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Silent_p.Y229Y	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617000													8	35					0	0	0.003080	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779380	135779380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:135779380G>T	ENST00000375845.3	-	2	73	c.43C>A	c.(43-45)Ctt>Att	p.L15I	MAP3K19_ENST00000392917.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392918.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000375844.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L15I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L32I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.L15I(1)									CAAATGTCAAGCAATGACTCA	0.338000													10	63					1.08611e-07	1.70772e-07	0.000978	1	0
NLRP12	91662	broad.mit.edu	37	19	54310879	54310879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:54310879G>C	ENST00000324134.6	-	4	2281	c.2113C>G	c.(2113-2115)Ctg>Gtg	p.L705V	NLRP12_ENST00000391775.3_Missense_Mutation_p.L705V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L705V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L705V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L706V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L706V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L705V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L706V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	705					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.L705V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGCTGCCAGATGTTCACTG	0.562000													11	35					0	0	0.001855	0	0
OR4A47	403253	broad.mit.edu	37	11	48510784	48510784	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:48510784G>T	ENST00000446524.1	+	1	516	c.440G>T	c.(439-441)tGg>tTg	p.W147L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTAGTGTCCTGGGTTGGAGGA	0.438000													22	98					1.96292e-10	3.46806e-10	0.001523	1	0
CPED1	79974	broad.mit.edu	37	7	120782149	120782149	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:120782149C>A	ENST00000310396.5	+	16	2476	c.2009C>A	c.(2008-2010)cCa>cAa	p.P670Q	CPED1_ENST00000450913.2_Missense_Mutation_p.P670Q|CPED1_ENST00000423795.1_Missense_Mutation_p.P450Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.P670Q(1)									GAAGACCGCCCAAGTCTGCCC	0.433000													31	156					4.15321e-07	6.35048e-07	0.001786	1	0
PEAK1	79834	broad.mit.edu	37	15	77471208	77471208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:77471208C>A	ENST00000560626.2	-	4	3536	c.3061G>T	c.(3061-3063)Gag>Tag	p.E1021*	PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E1021*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1021*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1021					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E1021Q(2)|p.E1021*(2)									AATGCATTCTCTGCTCTACCC	0.468000													9	63					0.00448238	0.00549311	0.004482	1	0
GPR18	2841	broad.mit.edu	37	13	99908075	99908075	+	Missense_Mutation	SNP	G	G	T	rs138394107		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:99908075G>T	ENST00000340807.3	-	3	608	c.52C>A	c.(52-54)Cca>Aca	p.P18T	GPR18_ENST00000397470.2_Missense_Mutation_p.P18T|GPR18_ENST00000397473.2_Missense_Mutation_p.P18T|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	18						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P18T(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TATTCATCTGGATGTGAGCTG	0.358000													30	112					8.88839e-20	2.01095e-19	0.002096	1	0
PI4KA	5297	broad.mit.edu	37	22	21178643	21178643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:21178643C>A	ENST00000255882.6	-	4	513	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	PI4KA_ENST00000572273.1_Missense_Mutation_p.A85S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	85					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.A85S(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCCCTATAGGCCACATCAGAC	0.433000													6	59					0.00307968	0.00380207	0.003080	1	0
ARSF	416	broad.mit.edu	37	X	3002590	3002590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:3002590C>A	ENST00000381127.1	+	6	934	c.713C>A	c.(712-714)aCg>aAg	p.T238K	ARSF_ENST00000359361.2_Missense_Mutation_p.T238K|ARSF_ENST00000537104.1_Missense_Mutation_p.T238K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	238						extracellular region	arylsulfatase activity|metal ion binding	p.T238K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGCCACACGTCCCCTTTA	0.547000													14	129					3.41278e-10	5.9664e-10	0.004990	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031860	10031860	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:10031860G>A	ENST00000396573.2	-	4	1272	c.963C>T	c.(961-963)taC>taT	p.Y321Y	GRIN2A_ENST00000396575.2_Silent_p.Y321Y|GRIN2A_ENST00000330684.3_Silent_p.Y321Y|GRIN2A_ENST00000404927.2_Silent_p.Y321Y|GRIN2A_ENST00000535259.1_Silent_p.Y164Y|GRIN2A_ENST00000562109.1_Silent_p.Y321Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	321					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Y321Y(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATCTGCCCGTAGCAGCTGG	0.562000													8	50					0	0	0.003080	0	0
FRMD7	90167	broad.mit.edu	37	X	131212510	131212510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:131212510C>A	ENST00000298542.4	-	12	1710	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	FRMD7_ENST00000370879.1_Missense_Mutation_p.R392I|FRMD7_ENST00000464296.1_Missense_Mutation_p.R497I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	512					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.R512I(1)		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)					TTCCTCTGCTCTAATTGGGGA	0.483000													58	239					2.14255e-21	4.9141e-21	0.003610	1	0
C5orf24	134553	broad.mit.edu	37	5	134190862	134190862	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:134190862G>T	ENST00000394976.3	+	2	500	c.272G>T	c.(271-273)gGc>gTc	p.G91V	C5orf24_ENST00000338051.4_Missense_Mutation_p.G91V|C5orf24_ENST00000435259.2_Missense_Mutation_p.G91V|C5orf24_ENST00000504727.1_Missense_Mutation_p.G91V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	91								p.G91V(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTAAGCGTGGCCGGCCTTCG	0.478000													17	80					8.28177e-16	1.69708e-15	0.007413	1	0
CCDC33	80125	broad.mit.edu	37	15	74573106	74573106	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:74573106C>T	ENST00000321288.5	+	11	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	CCDC33_ENST00000398814.3_Silent_p.G329G			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	532							protein binding	p.G329G(1)|p.G532G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGGGAAAGGCTTGGACGGGC	0.642000													10	56					0	0	0.001855	0	0
FOCAD	54914	broad.mit.edu	37	9	20946798	20946798	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:20946798G>T	ENST00000380249.1	+	32	4018	c.3654G>T	c.(3652-3654)ctG>ctT	p.L1218L	FOCAD_ENST00000605086.1_Silent_p.L654L|FOCAD_ENST00000338382.6_Silent_p.L1218L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1218						integral to membrane	binding	p.L1218L(1)									AGCTTCGACTGTTAGTGGAGA	0.453000													21	90					8.10497e-08	1.2906e-07	0.001523	1	0
ADAM23	8745	broad.mit.edu	37	2	207460798	207460798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:207460798C>A	ENST00000264377.3	+	24	2599	c.2271C>A	c.(2269-2271)tgC>tgA	p.C757*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.C757*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.C757*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	757	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C757*(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAGCCACCTGCATTTGTGATT	0.433000													8	49					3.09899e-07	4.76767e-07	0.004482	1	0
COL9A1	1297	broad.mit.edu	37	6	70970395	70970395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:70970395C>A	ENST00000357250.6	-	20	1572	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	COL9A1_ENST00000320755.7_Missense_Mutation_p.G229C|COL9A1_ENST00000370499.4_Missense_Mutation_p.G229C|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	472	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G472C(1)|p.G229C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCGGTGATGCCTCGCAAACCC	0.353000													5	22					0.000157383	0.00020654	0.003080	1	0
IL17B	27190	broad.mit.edu	37	5	148753957	148753957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:148753957G>T	ENST00000261796.3	-	3	568	c.518C>A	c.(517-519)gCt>gAt	p.A173D	IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	173					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.A173D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCACAGCGATGGTCTC	0.657000													11	36					1.36491e-13	2.6763e-13	0.001855	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419467	105419467	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:105419467T>C	ENST00000333244.5	-	7	2440	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	774						nucleus		p.K774R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGGGGCCCTTGAGGTCCAC	0.632000													46	275					0	0	0.003610	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694526	153694526	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:153694526C>A	ENST00000369682.3	+	15	2887	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	904	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.P904P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTGGTGCCCAGCCCGCCGC	0.682000													14	77					1.37285e-15	2.77906e-15	0.004007	1	0
SHOX	6473	broad.mit.edu	37	X	591669	591669	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:591669G>T	ENST00000381578.1	+	2	728	c.37G>T	c.(37-39)Gac>Tac	p.D13Y	SHOX_ENST00000554971.1_Missense_Mutation_p.D13Y|SHOX_ENST00000334060.3_Missense_Mutation_p.D13Y|SHOX_ENST00000381575.1_Missense_Mutation_p.D13Y	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	13					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D13Y(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAAGTCTTTTGACCAGAAAAG	0.637000													32	262					1.61788e-16	3.39891e-16	0.002445	1	0
RANBP2	5903	broad.mit.edu	37	2	109383771	109383771	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:109383771G>T	ENST00000283195.6	+	20	6902	c.6776G>T	c.(6775-6777)cGt>cTt	p.R2259L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2259					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R2259L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATCTTTTCCGTTTTGGTGAG	0.408000													80	507					4.21487e-37	1.01319e-36	0.003610	1	0
MOSPD2	158747	broad.mit.edu	37	X	14915215	14915215	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:14915215G>T	ENST00000380492.3	+	5	420	c.332G>T	c.(331-333)aGg>aTg	p.R111M	MOSPD2_ENST00000482354.1_Missense_Mutation_p.R111M|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	111	CRAL-TRIO.					integral to membrane	structural molecule activity	p.R111M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GTCTGGATCAGGGTGAAGTAT	0.328000													15	97					1.05317e-09	1.79111e-09	0.002450	1	0
CSRNP2	81566	broad.mit.edu	37	12	51458343	51458343	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:51458343A>C	ENST00000228515.1	-	5	1115	c.818T>G	c.(817-819)aTt>aGt	p.I273S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	273					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I273S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAGCTTCATAATGGTGTGGAG	0.592000													25	88					0	0	0.006320	0	0
MDN1	23195	broad.mit.edu	37	6	90428642	90428642	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:90428642A>T	ENST00000369393.3	-	42	6280	c.6165T>A	c.(6163-6165)tgT>tgA	p.C2055*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.C2055*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2055					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.C2055*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCTGCACACACTTCATGA	0.577000													22	74					0	0	0.001882	0	0
TRIM2	23321	broad.mit.edu	37	4	154191528	154191528	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:154191528G>T	ENST00000338700.5	+	2	137	c.72G>T	c.(70-72)caG>caT	p.Q24H	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_5'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	0						cytoplasm	zinc ion binding	p.Q24H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCCCATGTCAGTGGTCTAGGA	0.488000													17	121					3.51602e-12	6.60905e-12	0.001216	1	0
AP1B1	162	broad.mit.edu	37	22	29737726	29737726	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:29737726C>A	ENST00000357586.2	-	13	1746	c.1560G>T	c.(1558-1560)cgG>cgT	p.R520R	AP1B1_ENST00000356015.2_Silent_p.R520R|AP1B1_ENST00000432560.2_Silent_p.R520R|AP1B1_ENST00000317368.7_Silent_p.R520R|AP1B1_ENST00000402502.1_Silent_p.R520R|AP1B1_ENST00000405198.1_Silent_p.R520R|AP1B1_ENST00000415447.1_Silent_p.R520R	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	520					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	p.R520R(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGCCACGGTCCCGCAGGTCTG	0.597000													8	47					0.000157383	0.00020654	0.003080	1	0
OR1F1	4992	broad.mit.edu	37	16	3255074	3255074	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:3255074G>T	ENST00000304646.2	+	1	828	c.828G>T	c.(826-828)gtG>gtT	p.V276V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V276V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGCTACTGTGTTGTATACAG	0.478000													27	167					1.75199e-13	3.42185e-13	0.007291	1	0
EYA1	2138	broad.mit.edu	37	8	72246386	72246386	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:72246386T>A	ENST00000340726.3	-	4	787	c.148A>T	c.(148-150)Agt>Tgt	p.S50C	EYA1_ENST00000419131.1_Missense_Mutation_p.S50C|EYA1_ENST00000388742.4_Missense_Mutation_p.S50C|EYA1_ENST00000388741.2_Missense_Mutation_p.S17C|EYA1_ENST00000388740.3_Missense_Mutation_p.S17C|EYA1_ENST00000388743.2_Missense_Mutation_p.S50C|EYA1_ENST00000303824.7_Missense_Mutation_p.S50C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	50					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S50C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGTTTCACTGCTGCTCATT	0.328000													32	62					0	0	0.002836	0	0
LIPI	149998	broad.mit.edu	37	21	15561488	15561488	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:15561488A>T	ENST00000344577.2	-	2	387	c.362T>A	c.(361-363)tTg>tAg	p.L121*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.L100*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	100					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L121*(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATTCAGCAAAATCCTTAC	0.373000													8	61					0	0	0.003080	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921572	130921572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:130921572C>A	ENST00000261655.4	-	10	2033	c.1870G>T	c.(1870-1872)Gcc>Tcc	p.A624S	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A532S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A532S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	624	Pro-rich.					cell junction|synapse		p.A624S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCTCCCAGGCCTCATCCATC	0.672000													5	30					0.000602214	0.000768131	0.000602	1	0
TEKT1	83659	broad.mit.edu	37	17	6703489	6703489	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:6703489G>A	ENST00000338694.2	-	8	1243	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	TEKT1_ENST00000535086.1_Silent_p.L226L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	372					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.L372L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTCCTGCAGGGCAAGCTGT	0.483000													13	105					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9061138	9061138	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:9061138T>C	ENST00000397910.4	-	3	26511	c.26308A>G	c.(26308-26310)Atc>Gtc	p.I8770V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8772	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I8770V(2)|p.I4403V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCTAGTGATGGTTTCCGTG	0.493000													26	96					0	0	0.006320	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166417	61166417	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:61166417G>A	ENST00000382771.4	+	6	924	c.632G>A	c.(631-633)aGt>aAt	p.S211N	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	211					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	p.S211N(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACATTGACAGTATCAATTGT	0.423000													9	60					0	0	0.006214	0	0
OR4M1	441670	broad.mit.edu	37	14	20248962	20248962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:20248962G>T	ENST00000315957.4	+	1	562	c.481G>T	c.(481-483)Gct>Tct	p.A161S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A161S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATACAGGTGGCTCTCATTGT	0.512000													31	244					8.16721e-17	1.72304e-16	0.002096	1	0
ZNF800	168850	broad.mit.edu	37	7	127014765	127014765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:127014765C>A	ENST00000393313.1	-	5	1216	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E209*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E209*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E209*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAGGTTGTTCATCAGATGTA	0.418000													32	109					3.57733e-08	5.71458e-08	0.001786	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237292	30237292	+	Missense_Mutation	SNP	C	C	A	rs45513291		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:30237292C>A	ENST00000378988.4	+	2	696	c.595C>A	c.(595-597)Ccc>Acc	p.P199T		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	199	MAGE.						protein binding	p.P199T(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTGGGACTTTCCCAGGAGAAA	0.488000													10	33					2.17888e-05	2.98476e-05	0.006214	1	0
C1orf87	127795	broad.mit.edu	37	1	60505798	60505798	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:60505798G>A	ENST00000371201.3	-	5	645	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	180							calcium ion binding	p.L180L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCTGACCAGGGCAAGAAGA	0.433000													36	123					0	0	0.005524	0	0
ARMC5	79798	broad.mit.edu	37	16	31476036	31476036	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:31476036A>T	ENST00000457010.2	+	4	2393	c.1692A>T	c.(1690-1692)ccA>ccT	p.P564P	ARMC5_ENST00000538189.1_Silent_p.P596P|ARMC5_ENST00000408912.3_Silent_p.P659P|ARMC5_ENST00000412665.2_Silent_p.P208P|ARMC5_ENST00000268314.4_Silent_p.P564P|ARMC5_ENST00000563544.1_Silent_p.P564P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	564							binding	p.P564P(1)|p.P659P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCCAGCCCACGTGCACTGC	0.706000													3	14					0	0	0.004672	0	0
LINS	55180	broad.mit.edu	37	15	101114229	101114229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:101114229C>A	ENST00000314742.8	-	5	1071	c.849G>T	c.(847-849)atG>atT	p.M283I	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.M164I|LINS_ENST00000561308.1_Missense_Mutation_p.M283I	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	283								p.M283I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TAACTTCTAGCATGCAAGATG	0.413000													8	50					1.26484e-09	2.1438e-09	0.003080	1	0
PARP8	79668	broad.mit.edu	37	5	50124151	50124151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:50124151C>T	ENST00000281631.5	+	21	2254	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	PARP8_ENST00000505697.2_Missense_Mutation_p.S699L|PARP8_ENST00000514342.2_Missense_Mutation_p.S410L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S657L|PARP8_ENST00000505554.1_Missense_Mutation_p.S678L|PARP8_ENST00000503750.2_Missense_Mutation_p.S657L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	699	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity	p.S699L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTAGTGGCTCACACATTGAA	0.378000													10	107					0	0	0.006214	0	0
XKRX	402415	broad.mit.edu	37	X	100178004	100178004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:100178004C>A	ENST00000328526.5	-	2	986	c.421G>T	c.(421-423)Gag>Tag	p.E141*	XKRX_ENST00000372956.2_Nonsense_Mutation_p.E128*|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	128						integral to membrane|plasma membrane		p.E141*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCCTCCTGCTCCTCTTTCTTC	0.512000													32	140					2.46105e-21	5.61884e-21	0.002096	1	0
AKAP12	9590	broad.mit.edu	37	6	151673210	151673210	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:151673210G>C	ENST00000402676.2	+	4	3924	c.3684G>C	c.(3682-3684)gtG>gtC	p.V1228V	AKAP12_ENST00000253332.1_Silent_p.V1228V|AKAP12_ENST00000359755.5_Silent_p.V1123V|AKAP12_ENST00000354675.6_Silent_p.V1130V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1228					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.V1228V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCAGTTTTGTGTTCCAGGAAG	0.473000													16	59					0	0	0.004990	0	0
LZTR1	8216	broad.mit.edu	37	22	21343151	21343151	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:21343151G>T	ENST00000215739.8	+	6	942	c.583G>T	c.(583-585)Ggc>Tgc	p.G195C	LZTR1_ENST00000389355.3_Missense_Mutation_p.G176C|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	195					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G195C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637000													29	86					1.39806e-14	2.77392e-14	0.001512	1	0
DTX2	113878	broad.mit.edu	37	7	76112318	76112318	+	Silent	SNP	G	G	T	rs146537218	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:76112318G>T	ENST00000324432.5	+	5	1272	c.762G>T	c.(760-762)ggG>ggT	p.G254G	DTX2_ENST00000430490.2_Silent_p.G254G|DTX2_ENST00000307569.8_Silent_p.G254G|DTX2_ENST00000446820.2_Silent_p.G254G|DTX2_ENST00000446600.1_Silent_p.G163G|DTX2_ENST00000413936.2_Silent_p.G254G	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	254					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.G254G(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CACTCTCCGGGGCCCGGTCTG	0.677000													24	230					4.43304e-23	1.02617e-22	0.006320	1	0
CHI3L2	1117	broad.mit.edu	37	1	111773424	111773424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:111773424G>A	ENST00000445067.2	+	5	902	c.131G>A	c.(130-132)gGa>gAa	p.G44E	CHI3L2_ENST00000369744.2_Missense_Mutation_p.G34E|CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G44E			Q15782	CH3L2_HUMAN	chitinase 3-like 2	44					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.G44E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAGGAACCAGGAAAATTCACC	0.478000													13	52					0	0	0.001855	0	0
ZNF546	339327	broad.mit.edu	37	19	40520110	40520110	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:40520110T>A	ENST00000347077.4	+	7	1149	c.933T>A	c.(931-933)agT>agA	p.S311R	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.S285R	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S311R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGCCTTTAGTCGTGTTAGAG	0.408000													18	109					0	0	0.006122	0	0
NCAPD3	23310	broad.mit.edu	37	11	134051057	134051057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:134051057C>A	ENST00000534548.2	-	20	2538	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	825					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.G825V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAGTACATCCCCACACACCTG	0.522000													16	37					2.32078e-09	3.90704e-09	0.003163	1	0
CCDC112	153733	broad.mit.edu	37	5	114607173	114607173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:114607173C>A	ENST00000379611.5	-	7	1356	c.1069G>T	c.(1069-1071)Gca>Tca	p.A357S	CCDC112_ENST00000506442.1_Missense_Mutation_p.A274S|CCDC112_ENST00000395557.4_Missense_Mutation_p.A274S|CCDC112_ENST00000512261.1_Missense_Mutation_p.A274S	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	274								p.A357S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		GCTTCAACTGCCAAtttctgt	0.333000													15	87					1.49906e-05	2.07052e-05	0.002450	1	0
MBOAT1	154141	broad.mit.edu	37	6	20152873	20152873	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:20152873A>T	ENST00000324607.7	-	2	391	c.227T>A	c.(226-228)gTc>gAc	p.V76D	MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.V76D	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	76					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.V76D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACAAAAGATGACAAAATAGAT	0.438000													5	8					0	0	0.001168	0	0
HAUS3	79441	broad.mit.edu	37	4	2238091	2238091	+	Missense_Mutation	SNP	T	T	C	rs150101454		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:2238091T>C	ENST00000243706.4	-	4	1671	c.1442A>G	c.(1441-1443)aAt>aGt	p.N481S	HAUS3_ENST00000443786.2_Missense_Mutation_p.N481S|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Intron	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	481					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.N481S(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TAAAGAAATATTCTGTTTCAA	0.368000													22	66					0	0	0.003330	0	0
EGFL6	25975	broad.mit.edu	37	X	13624574	13624574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:13624574C>A	ENST00000361306.1	+	6	854	c.597C>A	c.(595-597)taC>taA	p.Y199*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.Y199*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.Y199*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GAAGCTACTACTGCAAATGTC	0.413000													41	134					2.87052e-16	5.98025e-16	0.005524	1	0
CDH18	1016	broad.mit.edu	37	5	19520859	19520859	+	Silent	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:19520859T>A	ENST00000507958.1	-	12	2409	c.1419A>T	c.(1417-1419)acA>acT	p.T473T	CDH18_ENST00000382275.1_Silent_p.T473T|CDH18_ENST00000511273.1_Silent_p.T473T|CDH18_ENST00000274170.4_Silent_p.T473T|CDH18_ENST00000502796.1_Silent_p.T473T|CDH18_ENST00000506372.1_Silent_p.T473T			Q13634	CAD18_HUMAN	cadherin 18, type 2	473	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T473T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAATACCCACTGTGACATGGC	0.388000													48	93					0	0	0.003610	0	0
TENM4	26011	broad.mit.edu	37	11	78387379	78387379	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:78387379G>A	ENST00000278550.7	-	30	5776	c.5314C>T	c.(5314-5316)Ctg>Ttg	p.L1772L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.L1772L(2)									CCGTTGGCCAGCAGCAGCCGC	0.622000													3	61					0	0	0.004672	0	0
UBN1	29855	broad.mit.edu	37	16	4910738	4910738	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:4910738C>T	ENST00000396658.4	+	6	1448	c.745C>T	c.(745-747)Cta>Tta	p.L249L	UBN1_ENST00000545171.1_Silent_p.L249L|UBN1_ENST00000262376.6_Silent_p.L249L|UBN1_ENST00000590769.1_Silent_p.L249L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	249	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.L249L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TAAAGAGATGCTAAAGAAATT	0.478000													38	171					0	0	0.003755	0	0
LCE2C	353140	broad.mit.edu	37	1	152648743	152648743	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:152648743C>A	ENST00000368783.1	+	2	307	c.252C>A	c.(250-252)cgC>cgA	p.R84R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	84	Cys-rich.				keratinization			p.R84R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACCGGCGCCGGCACCAGA	0.682000													28	95					7.41945e-09	1.20838e-08	0.005443	1	0
SCN4A	6329	broad.mit.edu	37	17	62018615	62018615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:62018615C>A	ENST00000435607.1	-	24	5103	c.5027G>T	c.(5026-5028)tGc>tTc	p.C1676F	SCN4A_ENST00000578147.1_Missense_Mutation_p.C1676F	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1676					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.C1676F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GATGTCCAGGCAGTGGATCTT	0.567000													23	89					1.85244e-09	3.12912e-09	0.003330	1	0
DHRS4	10901	broad.mit.edu	37	14	24435560	24435560	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:24435560G>C	ENST00000313250.5	+	6	803	c.600G>C	c.(598-600)ctG>ctC	p.L200L	DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Silent_p.L148L|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000558581.1_Silent_p.L166L	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	200						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.L200L(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCATAGAGCTGGCCCCAAGGA	0.507000													14	180					0	0	0.003163	0	0
SLC28A1	9154	broad.mit.edu	37	15	85487830	85487830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:85487830C>T	ENST00000394573.1	+	17	1899	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	SLC28A1_ENST00000538177.1_Missense_Mutation_p.S400F|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S566F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S566F	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	566					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.S566F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGACTTCTCCCAGATAGTG	0.637000													3	35					0	0	0.004672	0	0
CTAG2	30848	broad.mit.edu	37	X	153880408	153880408	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:153880408G>A	ENST00000369585.3	-	3	590	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome		p.R180C(1)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTTAGCGCCTCTGCCCT	0.597000													12	61					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10443964	10443964	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:10443964C>A	ENST00000245503.5	-	11	1339	c.955G>T	c.(955-957)Ggg>Tgg	p.G319W	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.G319W|MYH2_ENST00000397183.2_Missense_Mutation_p.G319W	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	319	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G319W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGATCTCCCCTTGACTGACA	0.383000													13	54					0.00400662	0.00493427	0.004007	1	0
ARMC3	219681	broad.mit.edu	37	10	23244787	23244787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:23244787C>A	ENST00000298032.5	+	4	302	c.218C>A	c.(217-219)aCt>aAt	p.T73N	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73N|ARMC3_ENST00000409049.3_Missense_Mutation_p.T73N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	73							binding	p.T73N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAACCTTTAACTAAGCTACTC	0.348000													8	49					1.12685e-05	1.56943e-05	0.004482	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337046	13337046	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:13337046G>T	ENST00000380622.2	-	1	1472	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	336					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.A336A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTCGACAGCGGCCTGTACTG	0.393000													63	210					2.23399e-28	5.29383e-28	0.003610	1	0
MMEL1	79258	broad.mit.edu	37	1	2524404	2524404	+	Splice_Site	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:2524404G>T	ENST00000288709.6	-	20	2082	c.1840_splice	c.e20-1	p.G614_splice	MMEL1_ENST00000502556.1_Splice_Site_p.G466_splice|MMEL1_ENST00000378412.3_Splice_Site_p.G623_splice	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	623					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.G614G(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGAAGTTCCGGCCTGGGCAGG	0.632000													9	66					0.00185496	0.00230716	0.001855	1	0
LATS2	26524	broad.mit.edu	37	13	21557438	21557438	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:21557438C>A	ENST00000382592.4	-	5	2812	c.2407G>T	c.(2407-2409)Ggt>Tgt	p.G803C	LATS2_ENST00000542899.1_Missense_Mutation_p.G803C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	803	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G803C(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAATGTGACCATCCAGATCT	0.458000													13	58					1.61879e-10	2.8907e-10	0.001368	1	0
CR1	1378	broad.mit.edu	37	1	207739213	207739213	+	Silent	SNP	T	T	C	rs56229517		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:207739213T>C	ENST00000367049.4	+	24	3897	c.3897T>C	c.(3895-3897)taT>taC	p.Y1299Y	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Silent_p.Y849Y|CR1_ENST00000367053.1_Silent_p.Y849Y|CR1_ENST00000367051.1_Silent_p.Y849Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	849	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.Y854Y(1)|p.Y1299Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCTAGTTATTGTGTCTTGG	0.423000													13	166					0	0	0.001855	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126680	73126680	+	RNA	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:73126680T>C	ENST00000569990.2	+	0	433					NR_027756.1																						CCCTGCTATTTATGGGTTGCT	0.507000													2	5					0	0	0.004672	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604753	108604753	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:108604753G>T	ENST00000264047.2	+	2	418	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48Y|SLC5A7_ENST00000540517.1_Intron	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	48					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527000													11	60					1.58986e-06	2.29749e-06	0.000673	1	0
SYT13	57586	broad.mit.edu	37	11	45275883	45275883	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:45275883T>C	ENST00000020926.3	-	3	593	c.482A>G	c.(481-483)aAa>aGa	p.K161R	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	161						transport vesicle		p.K161R(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTAGTGGAGTTTGGGGGCCTG	0.517000													15	42					0	0	0.003163	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687533	151687533	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:151687533T>C	ENST00000325144.4	-	3	808	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E223G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGAAGATGCTTCCAGATTGGT	0.552000													16	78					0	0	0.004007	0	0
MYOF	26509	broad.mit.edu	37	10	95126285	95126285	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:95126285T>C	ENST00000371501.4	-	26	2739	c.2617A>G	c.(2617-2619)Aaa>Gaa	p.K873E	MYOF_ENST00000359263.4_Missense_Mutation_p.K873E|MYOF_ENST00000371502.4_Missense_Mutation_p.K873E|MYOF_ENST00000358334.5_Missense_Mutation_p.K860E			Q9NZM1	MYOF_HUMAN	myoferlin	873					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.K873E(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTACCCCATTTTCCAAACATG	0.348000													18	61					0	0	0.006122	0	0
GRIA4	2893	broad.mit.edu	37	11	105795225	105795225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:105795225T>C	ENST00000393127.2	+	12	2023	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	GRIA4_ENST00000525187.1_Missense_Mutation_p.I526T|GRIA4_ENST00000530497.1_Missense_Mutation_p.I526T|GRIA4_ENST00000282499.5_Missense_Mutation_p.I526T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	526					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCTATCATGATCAAAAAGCCT	0.438000													4	229					0	0	0.000248	0	0
PDE6B	5158	broad.mit.edu	37	4	647771	647771	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:647771C>A	ENST00000255622.6	+	4	885	c.842C>A	c.(841-843)aCc>aAc	p.T281N	PDE6B_ENST00000429163.2_Missense_Mutation_p.T2N|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.T281N	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	281	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T281N(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGACATGACCAAGGAGAAG	0.652000													8	61					1.06961e-07	1.6978e-07	0.003080	1	0
SERPINB13	5275	broad.mit.edu	37	18	61259708	61259708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:61259708C>T	ENST00000344731.5	+	4	454	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.Q118*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	118					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCTCTTCCTTCAAGTAAGTTT	0.423000													7	38					0	0	0.004482	0	0
LRRC37A	9884	broad.mit.edu	37	17	44408380	44408380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:44408380C>A	ENST00000320254.5	+	9	3740	c.3737C>A	c.(3736-3738)tCt>tAt	p.S1246Y	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.S284Y|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.S1246Y	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1246						integral to membrane		p.S1246Y(1)		endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCAGCAGTCTCTGTGCTGAAA	0.557000													11	18					0.00074312	0.000943046	0.006122	1	0
CHST4	10164	broad.mit.edu	37	16	71570875	71570875	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:71570875C>A	ENST00000338482.5	+	3	638	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	CHST4_ENST00000572450.1_Silent_p.R99R|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.R99R			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	99					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R99R(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGATCTGATACGGGCCGTCTT	0.592000													28	69					4.59853e-10	7.98356e-10	0.005443	1	0
TRPC5	7224	broad.mit.edu	37	X	111195529	111195529	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:111195529C>A	ENST00000262839.2	-	2	1038	c.120G>T	c.(118-120)gtG>gtT	p.V40V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	40					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.V40V(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCCCTTCTCCACAGCATTGA	0.542000													19	77					2.4624e-09	4.11772e-09	0.001216	1	0
BIRC8	112401	broad.mit.edu	37	19	53793473	53793473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:53793473T>A	ENST00000426466.1	-	1	1402	c.155A>T	c.(154-156)aAg>aTg	p.K52M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	52					apoptosis		zinc ion binding	p.K52M(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGGATCTTCCTTGGGCTTCCA	0.428000													19	80					0	0	0.006122	0	0
MYO10	4651	broad.mit.edu	37	5	16672820	16672820	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:16672820C>A	ENST00000513610.1	-	37	5741	c.5287G>T	c.(5287-5289)Gat>Tat	p.D1763Y	MYO10_ENST00000274203.9_Missense_Mutation_p.D1120Y|MYO10_ENST00000427430.2_Missense_Mutation_p.D1120Y|MYO10_ENST00000505695.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000515803.1_Missense_Mutation_p.D1102Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1763	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.D1763Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTAAGACATCAGCTACGACG	0.478000													21	63					1.2644e-06	1.84316e-06	0.001523	1	0
CLEC1A	51267	broad.mit.edu	37	12	10241744	10241744	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:10241744G>C	ENST00000315330.4	-	2	255	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	65					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.L65L(1)|p.L65V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGCTGCCAGCCCTATCAGC	0.552000													5	52					0	0	0.001168	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696930	50696930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:50696930G>C	ENST00000008391.3	+	5	1016	c.788G>C	c.(787-789)cGc>cCc	p.R263P	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGGGGGCCGCTGCCTGAGA	0.418000													22	149					0	0	0.002299	0	0
CHEK1	1111	broad.mit.edu	37	11	125497573	125497573	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:125497573T>C	ENST00000534070.1	+	3	392	c.137T>C	c.(136-138)gTa>gCa	p.V46A	CHEK1_ENST00000278916.3_Missense_Mutation_p.V46A|CHEK1_ENST00000438015.1_Missense_Mutation_p.V46A|CHEK1_ENST00000428830.2_Missense_Mutation_p.V46A|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.V46A|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000544373.1_Missense_Mutation_p.V46A	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	46	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.V46A(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAGCGTGCCGTAGACTGTCCA	0.343000								Other conserved DNA damage response genes					3	89					0	0	0.004672	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801850	185801850	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:185801850A>C	ENST00000302277.6	+	4	2321	c.1727A>C	c.(1726-1728)aAa>aCa	p.K576T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	576						intracellular	zinc ion binding	p.K576T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTAGATGAAAAATACAACAAA	0.303000													3	80					0	0	0.004672	0	0
OR5L1	219437	broad.mit.edu	37	11	55579627	55579627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:55579627G>T	ENST00000333973.2	+	1	774	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G229C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTGAAGATGGGCTCTGCAGA	0.512000													30	117					3.1745e-13	6.17606e-13	0.001512	1	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:127666379C>G	ENST00000508053.1	-	39	5205	c.4231G>C	c.(4231-4233)Gaa>Caa	p.E1411Q	FBN2_ENST00000507835.1_Missense_Mutation_p.E261Q|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378Q			P35556	FBN2_HUMAN	fibrillin 2	1411	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1411Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAGAACATTCGTCCAGATCT	0.428000													7	30					0	0	0.001984	0	0
SCG3	29106	broad.mit.edu	37	15	51991556	51991556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:51991556G>C	ENST00000220478.3	+	9	1429	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	SCG3_ENST00000542355.2_Missense_Mutation_p.K110N	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	342					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.K342N(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCAAAAACAAGCTAGAAAAAA	0.313000													12	128					0	0	0.002450	0	0
OPRK1	4986	broad.mit.edu	37	8	54142028	54142028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:54142028G>T	ENST00000265572.3	-	4	1269	c.972C>A	c.(970-972)agC>agA	p.S324R	OPRK1_ENST00000524278.1_Missense_Mutation_p.S235R|OPRK1_ENST00000520287.1_Missense_Mutation_p.S324R|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	324					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.S324R(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGATTCAGGCTACTGTTGG	0.512000													8	65					0.00307968	0.00380207	0.003080	1	0
CEP44	80817	broad.mit.edu	37	4	175237375	175237375	+	Silent	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:175237375A>C	ENST00000503780.1	+	10	1434	c.1020A>C	c.(1018-1020)acA>acC	p.T340T	CEP44_ENST00000296519.4_Silent_p.T340T|CEP44_ENST00000457424.2_Silent_p.T340T|CEP44_ENST00000426172.1_Silent_p.T340T	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	340						centrosome|midbody|spindle pole		p.T340T(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GCTATAGTACAGCATCATCAG	0.373000													29	150					0	0	0.002096	0	0
PLCB4	5332	broad.mit.edu	37	20	9374320	9374320	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:9374320A>T	ENST00000378501.2	+	15	1424	c.1409A>T	c.(1408-1410)gAa>gTa	p.E470V	PLCB4_ENST00000334005.3_Missense_Mutation_p.E470V|PLCB4_ENST00000378473.3_Missense_Mutation_p.E470V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E470V|PLCB4_ENST00000414679.2_Missense_Mutation_p.E470V|PLCB4_ENST00000378493.1_Missense_Mutation_p.E470V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	470					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E470V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTGAAGTTGAAAAAAGTAAG	0.363000											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63					0	0	0.002780	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448463	45448463	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:45448463G>A	ENST00000419266.2	+	3	325	c.285G>A	c.(283-285)ccG>ccA	p.P95P	APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000592954.1_Silent_p.P95P|APOC4-APOC2_ENST00000436871.1_Silent_p.P95P														p.P95P(1)									ACCTGGGTCCGCTCACCAAGG	0.592000													6	298					0	0	0.001984	0	0
FSTL5	56884	broad.mit.edu	37	4	162380417	162380417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:162380417G>A	ENST00000306100.5	-	14	2099	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q545*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q554*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	555						extracellular region	calcium ion binding	p.Q555*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCAGACCTGATCATGTGAT	0.358000													13	70					0	0	0.002450	0	0
TEX11	56159	broad.mit.edu	37	X	69902602	69902602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:69902602G>T	ENST00000395889.2	-	15	1278	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	TEX11_ENST00000374320.2_Missense_Mutation_p.L50M|TEX11_ENST00000374333.2_Missense_Mutation_p.L360M|TEX11_ENST00000344304.3_Missense_Mutation_p.L375M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	375							protein binding	p.L360M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGGAGTATCAGAACTTTTCCA	0.358000													14	45					9.31168e-06	1.30782e-05	0.001855	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140666	143140666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:143140666G>T	ENST00000332690.1	+	1	121	c.121G>T	c.(121-123)Gct>Tct	p.A41S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	41					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.A41S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CATCACTGCTGCTCTGGGCGT	0.493000													42	124					1.62957e-23	3.7897e-23	0.001951	1	0
SLC35G1	159371	broad.mit.edu	37	10	95661109	95661109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:95661109G>T	ENST00000371408.3	+	3	1018	c.957G>T	c.(955-957)atG>atT	p.M319I	SLC35G1_ENST00000427197.1_Missense_Mutation_p.M320I			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	320	DUF6 2.					integral to membrane		p.M319I(1)									TGAAGACAATGGATGTGGTCT	0.403000													8	76					1.12685e-05	1.56943e-05	0.004482	1	0
TENM1	10178	broad.mit.edu	37	X	123839006	123839006	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:123839006G>A	ENST00000422452.2	-	5	935	c.872C>T	c.(871-873)cCt>cTt	p.P291L	TENM1_ENST00000371130.3_Missense_Mutation_p.P291L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P293L(1)									AGGCCTGGGAGGGGGCGAGTA	0.527000													38	218					0	0	0.007835	0	0
FANCB	2187	broad.mit.edu	37	X	14882911	14882911	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:14882911T>A	ENST00000398334.1	-	3	989	c.722A>T	c.(721-723)cAt>cTt	p.H241L	FANCB_ENST00000324138.3_Missense_Mutation_p.H241L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	241					DNA repair	nucleoplasm		p.H241L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGCACAAATATGTACATAAGT	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	94					0	0	0.007413	0	0
SMG8	55181	broad.mit.edu	37	17	57288024	57288024	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:57288024C>G	ENST00000543872.2	+	2	876	c.612C>G	c.(610-612)ttC>ttG	p.F204L	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.F204L|SMG8_ENST00000578922.1_Missense_Mutation_p.F204L|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	204					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.F204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTACCTATTCTCTGTCTGTC	0.498000													13	64					0	0	0.001855	0	0
NTF3	4908	broad.mit.edu	37	12	5603979	5603979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:5603979C>A	ENST00000423158.3	+	2	850	c.638C>A	c.(637-639)cCg>cAg	p.P213Q	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.P200Q	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	200					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.P200Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GAAGCCAGGCCGGTCAAAAAC	0.483000													14	63					1.5739e-10	2.84097e-10	0.004007	1	0
MPPED1	758	broad.mit.edu	37	22	43821177	43821177	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:43821177C>A	ENST00000417669.1	+	2	630	c.186C>A	c.(184-186)aaC>aaA	p.N62K	MPPED1_ENST00000542779.1_Missense_Mutation_p.N62K|MPPED1_ENST00000443721.1_Missense_Mutation_p.N62K|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.N95K			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	62							hydrolase activity	p.N62K(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTTCTACAACATCAACCAGG	0.662000													7	34					1.76689e-08	2.85905e-08	0.006214	1	0
RCAN3	11123	broad.mit.edu	37	1	24840900	24840900	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:24840900A>T	ENST00000374395.4	+	2	351	c.38A>T	c.(37-39)cAg>cTg	p.Q13L	RCAN3_ENST00000436717.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000374393.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q13L|RCAN3_ENST00000412742.2_Missense_Mutation_p.Q13L	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	13					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	p.Q13L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AATGATAGCCAGTCAGATCTG	0.428000													12	76					0	0	0.002450	0	0
RPL10L	140801	broad.mit.edu	37	14	47120853	47120853	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:47120853G>T	ENST00000298283.3	-	1	175	c.87C>A	c.(85-87)gcC>gcA	p.A29A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	29					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.A29A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGCGGATCTTGGCATCAGGAA	0.527000													18	148					4.75885e-15	9.5177e-15	0.004990	1	0
GPR142	350383	broad.mit.edu	37	17	72368403	72368403	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:72368403G>T	ENST00000335666.4	+	4	1101	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	351						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R351R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGCAGCCCCGGGTGGGCAAGA	0.632000													14	43					2.61681e-11	4.7927e-11	0.002450	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113436	55113436	+	Splice_Site	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:55113436G>A	ENST00000370862.3	+	2	559		c.e2-1			NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2						feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTCAAATTAGTTTGTGTGGC	0.393000													18	95					0	0	0.007413	0	0
TRIML2	205860	broad.mit.edu	37	4	189012705	189012705	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:189012705C>G	ENST00000512729.1	-	7	1360	c.986G>C	c.(985-987)gGg>gCg	p.G329A	TRIML2_ENST00000326754.3_Missense_Mutation_p.G354A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	329	B30.2/SPRY.						ligase activity	p.G329A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGATATCTGCCCGTGTTCGCA	0.507000													38	176					0	0	0.006999	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762073	48762073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:48762073C>A	ENST00000445167.2	-	4	542	c.523G>T	c.(523-525)Gca>Tca	p.A175S	SLC35A2_ENST00000376529.3_Missense_Mutation_p.A175S|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A151S|SLC35A2_ENST00000376521.1_Silent_p.P371P|SLC35A2_ENST00000452555.2_Silent_p.P399P|SLC35A2_ENST00000247138.5_Silent_p.P371P|SLC35A2_ENST00000413561.2_Silent_p.P310P	NM_001032289.1	NP_001027460.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	0					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	p.A175S(1)|p.P371P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AAGACAGCTGCGGTGGTGGTG	0.652000													10	35					3.07112e-06	4.38731e-06	0.000978	1	0
SF3B3	23450	broad.mit.edu	37	16	70599102	70599102	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:70599102C>T	ENST00000302516.5	+	19	2809	c.2598C>T	c.(2596-2598)atC>atT	p.I866I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	866					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.I866I(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCTCTGTGATCCGAGTGATGA	0.542000													26	71					0	0	0.003330	0	0
USP51	158880	broad.mit.edu	37	X	55513306	55513306	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:55513306G>A	ENST00000500968.3	-	2	2149	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	689					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.T689T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGTCCTCAATGGTAGCCTTGG	0.433000													16	81					0	0	0.003163	0	0
JPH2	57158	broad.mit.edu	37	20	42815287	42815287	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:42815287C>A	ENST00000372980.3	-	1	931	c.59G>T	c.(58-60)gGg>gTg	p.G20V	JPH2_ENST00000342272.3_Missense_Mutation_p.G20V	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	20	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G20L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTTTCCCCCCTCCCAGCC	0.632000													13	32					4.3838e-07	6.62206e-07	0.001855	1	0
GUCY2F	2986	broad.mit.edu	37	X	108708604	108708604	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:108708604G>C	ENST00000218006.2	-	3	1090	c.799C>G	c.(799-801)Cat>Gat	p.H267D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	267					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.H267D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCAGATCATGAGCACATTCC	0.443000													32	177					0	0	0.003271	0	0
COL14A1	7373	broad.mit.edu	37	8	121381596	121381596	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:121381596G>T	ENST00000297848.3	+	47	5453	c.5183G>T	c.(5182-5184)aGc>aTc	p.S1728I	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1633I|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1728I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1728	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.S1728I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CGGCCTGGCAGCCCTGGGCCC	0.582000													16	95					2.23348e-06	3.19983e-06	0.004007	1	0
FAM193A	8603	broad.mit.edu	37	4	2661632	2661632	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:2661632A>T	ENST00000324666.5	+	8	1074	c.723A>T	c.(721-723)ccA>ccT	p.P241P	FAM193A_ENST00000502458.1_Silent_p.P265P|FAM193A_ENST00000382839.3_Silent_p.P241P|FAM193A_ENST00000545951.1_Silent_p.P241P|FAM193A_ENST00000505311.1_Silent_p.P241P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	241								p.P241P(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCTCCCACTTCAAGTGG	0.557000													21	87					0	0	0.001216	0	0
TFCP2	7024	broad.mit.edu	37	12	51495784	51495784	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:51495784C>G	ENST00000307660.4	-	10	1652	c.932G>C	c.(931-933)aGa>aCa	p.R311T	TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000257915.5_Missense_Mutation_p.R362T|TFCP2_ENST00000548115.1_Missense_Mutation_p.R311T	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	362	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R362T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CACATCATCTCTAGTTAATTT	0.323000													3	85					0	0	0.004672	0	0
PPL	5493	broad.mit.edu	37	16	4940293	4940293	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr16:4940293G>C	ENST00000345988.2	-	18	2294	c.2205C>G	c.(2203-2205)ttC>ttG	p.F735L	PPL_ENST00000590782.2_Missense_Mutation_p.F733L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	735					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.F735L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGCCGCGGTGGAAGTGCTCGT	0.607000													6	50					0	0	0.001984	0	0
HOOK3	84376	broad.mit.edu	37	8	42823213	42823213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:42823213G>T	ENST00000307602.4	+	11	1178	c.978G>T	c.(976-978)aaG>aaT	p.K326N		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	326					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.K326N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATAAAAAGAAGCTAGAAGACC	0.338000			T	RET	papillary thyroid								28	57					2.65835e-16	5.56139e-16	0.007291	1	0
PCDH18	54510	broad.mit.edu	37	4	138453002	138453002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:138453002C>A	ENST00000344876.4	-	1	627	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E81*|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	81	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E81*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTATCCTCGTTTACTACA	0.428000													25	153					4.26978e-12	7.966e-12	0.003330	1	0
ASB11	140456	broad.mit.edu	37	X	15306059	15306059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:15306059G>T	ENST00000537676.1	-	6	800	c.728C>A	c.(727-729)gCg>gAg	p.A243E	ASB11_ENST00000380470.3_Missense_Mutation_p.A247E|ASB11_ENST00000480796.1_Missense_Mutation_p.A264E|ASB11_ENST00000344384.4_Missense_Mutation_p.A243E			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	264					intracellular signal transduction			p.A264E(2)|p.A243E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CAGATCAAGCGCACTTTTGCC	0.542000													18	68					7.07596e-05	9.45984e-05	0.006122	1	0
DNAH10	196385	broad.mit.edu	37	12	124362333	124362333	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:124362333G>T	ENST00000409039.3	+	47	7921	c.7896G>T	c.(7894-7896)acG>acT	p.T2632T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2632	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1224T(1)|p.T2632T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATTCTGCACGCTAGCACTTT	0.453000													18	111					6.49762e-13	1.24954e-12	0.006122	1	0
CYYR1	116159	broad.mit.edu	37	21	27945291	27945291	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr21:27945291G>A	ENST00000435845.2	-	1	312	c.293C>T	c.(292-294)cCc>cTc	p.P98L	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	139						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TGGAGCGAAGGGAGAGCCCGG	0.642000													9	34					0	0	0.000978	0	0
ASTN1	460	broad.mit.edu	37	1	176915238	176915238	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:176915238C>A	ENST00000367654.2	-	13	2110	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	ASTN1_ENST00000367657.3_Missense_Mutation_p.K691N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K691N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K691N			O14525	ASTN1_HUMAN	astrotactin 1	699	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane		p.K691N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCACACCAAGCTTGTAGTCCT	0.517000													20	97					0.00121646	0.00152439	0.001216	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744069	140744069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:140744069G>T	ENST00000518069.1	+	1	172	c.172G>T	c.(172-174)Gag>Tag	p.E58*	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.E58*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCCCCAGGAGCTGGCGGA	0.647000													9	99					0.000978159	0.00123194	0.000978	1	0
KIF16B	55614	broad.mit.edu	37	20	16352333	16352333	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:16352333T>A	ENST00000354981.2	-	21	3581	c.3424A>T	c.(3424-3426)Agt>Tgt	p.S1142C	KIF16B_ENST00000378003.2_Missense_Mutation_p.S368C|KIF16B_ENST00000355755.3_Missense_Mutation_p.S1142C|KIF16B_ENST00000408042.1_Missense_Mutation_p.S1142C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1142					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.S1142C(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGATGTACTGCAGCCTTCA	0.388000													26	61					0	0	0.006320	0	0
KIF15	56992	broad.mit.edu	37	3	44867888	44867888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:44867888G>T	ENST00000326047.4	+	22	2871	c.2722G>T	c.(2722-2724)Gca>Tca	p.A908S	KIF15_ENST00000425755.1_Missense_Mutation_p.A543S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	908					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.A908S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCTTCTTGAGGCAGAAAAAGA	0.318000													8	46					7.48243e-07	1.11015e-06	0.006214	1	0
NEB	4703	broad.mit.edu	37	2	152487674	152487674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:152487674C>A	ENST00000397345.3	-	66	9803	c.9601G>T	c.(9601-9603)Gct>Tct	p.A3201S	NEB_ENST00000603639.1_Missense_Mutation_p.A3201S|NEB_ENST00000604864.1_Missense_Mutation_p.A3201S|NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.A3201S|NEB_ENST00000409198.1_Missense_Mutation_p.A2958S	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3201					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A3201S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTTGAGAGCATTGTTCTTG	0.418000													51	280					6.3237e-29	1.50564e-28	0.003610	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72056983	72056983	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:72056983C>A	ENST00000378743.3	-	1	766	c.408G>T	c.(406-408)cgG>cgT	p.R136R	ZFC3H1_ENST00000552037.1_Silent_p.R136R|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.R136R|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	136					RNA processing	intracellular	metal ion binding	p.R136R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGTGGCTCCGCTCCCAGA	0.647000													12	86					0.00010058	0.000133042	0.001368	1	0
HS6ST2	90161	broad.mit.edu	37	X	131803196	131803196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:131803196C>A	ENST00000521489.1	-	5	1427	c.1012G>T	c.(1012-1014)Gca>Tca	p.A338S	HS6ST2-AS1_ENST00000455269.1_RNA|HS6ST2_ENST00000370836.2_Intron|HS6ST2_ENST00000406696.3_Intron|HS6ST2_ENST00000370837.1_Intron|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A192S	NM_001077188.1	NP_001070656.1	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	316						integral to membrane	sulfotransferase activity	p.A338S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGGCGCCTGCGTTAGTGTTT	0.428000													9	64					0.00621372	0.00759623	0.006214	1	0
NAV2	89797	broad.mit.edu	37	11	19735466	19735466	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:19735466G>T	ENST00000396085.1	+	1	586	c.225G>T	c.(223-225)ccG>ccT	p.P75P	NAV2_ENST00000349880.4_Silent_p.P75P|NAV2_ENST00000396087.3_Silent_p.P75P|NAV2_ENST00000360655.4_Intron	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	75						nucleus	ATP binding|helicase activity	p.P75P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGGGCTCCCGCTGCGGAAGA	0.602000													10	48					2.74318e-10	4.82954e-10	0.006214	1	0
ORAI2	80228	broad.mit.edu	37	7	102079390	102079390	+	Splice_Site	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:102079390G>T	ENST00000356387.2	+	3	222		c.e3-1		ORAI2_ENST00000403646.3_Splice_Site|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000478730.1_Splice_Site|ORAI2_ENST00000473939.1_Splice_Site	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2							integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCCACCCTTAGCCTGGCTCCC	0.582000													23	106					1.5548e-18	3.40965e-18	0.005443	1	0
POT1	25913	broad.mit.edu	37	7	124475445	124475445	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:124475445T>A	ENST00000357628.3	-	15	1991	c.1393A>T	c.(1393-1395)Aaa>Taa	p.K465*	POT1_ENST00000393329.1_Nonsense_Mutation_p.K334*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	465					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.K465*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTCGAGAGTTTGCAAATTTCA	0.363000													21	74					0	0	0.002299	0	0
GBA3	57733	broad.mit.edu	37	4	22729405	22729405	+	RNA	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr4:22729405C>A	ENST00000508166.1	+	0	160				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGCAGTATCAAAAAGTCCA	0.393000													52	212					1.81118e-26	4.27166e-26	0.003610	1	0
FBXL13	222235	broad.mit.edu	37	7	102517943	102517943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:102517943C>A	ENST00000393772.2	-	16	2032	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.D536Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.D536Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.D536Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.D536Y			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	536								p.D536Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCAGAGAGATCTATTGATACC	0.294000													15	69					1.02788e-11	1.89646e-11	0.004990	1	0
TFAP2D	83741	broad.mit.edu	37	6	50696931	50696931	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:50696931C>A	ENST00000008391.3	+	5	1017	c.789C>A	c.(787-789)cgC>cgA	p.R263R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGGGGGCCGCTGCCTGAGAG	0.413000													24	147					1.1804e-14	2.35139e-14	0.003954	1	0
CBX6	23466	broad.mit.edu	37	22	39262426	39262426	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:39262426C>A	ENST00000407418.3	-	5	1150	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	CBX6_ENST00000216083.6_Missense_Mutation_p.A325S			O95503	CBX6_HUMAN	chromobox homolog 6	343					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		p.A343S(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCTCAGGGGCCGTGGGAGGT	0.716000													7	29					8.12818e-05	0.000108376	0.001984	1	0
CNOT3	4849	broad.mit.edu	37	19	54647235	54647235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:54647235G>A	ENST00000406403.1	+	3	1754	c.151G>A	c.(151-153)Gag>Aag	p.E51K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E51K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	51					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E51K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTAAAGAAGGAGATTAAGAA	0.552000													18	77					0	0	0.007413	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051250	85051250	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:85051250C>T	ENST00000335459.5	-	5	1219	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P	TRABD2A_ENST00000409520.2_Silent_p.P387P|TRABD2A_ENST00000479944.1_5'UTR	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.P387P(1)|p.P338P(1)									CTTCTGGTGCCGGTACTTCCA	0.587000													7	27					0	0	0.004482	0	0
SNAI1	6615	broad.mit.edu	37	20	48600678	48600678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:48600678C>T	ENST00000244050.2	+	2	461	c.400C>T	c.(400-402)Caa>Taa	p.Q134*		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	134	Required for FBXL14-triggered degradation.				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	p.Q134*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGCTTGGGCCAAGTGCCCAA	0.607000													23	74					0	0	0.001882	0	0
WDR70	55100	broad.mit.edu	37	5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413000													8	806					0	0	0.003080	0	0
PDK4	5166	broad.mit.edu	37	7	95216781	95216781	+	Silent	SNP	T	T	C	rs148379762		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr7:95216781T>C	ENST00000005178.5	-	9	1127	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	310	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.T310T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGTGGAGTATGTATAACTAA	0.393000													23	83					0	0	0.003330	0	0
EPHA8	2046	broad.mit.edu	37	1	22920043	22920043	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:22920043C>A	ENST00000166244.3	+	7	1539	c.1467C>A	c.(1465-1467)acC>acA	p.T489T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	489	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T489T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTACTCCACCCTCAAGGCCG	0.697000													7	23					2.7689e-08	4.46596e-08	0.001984	1	0
SMARCA1	6594	broad.mit.edu	37	X	128657272	128657272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:128657272C>A	ENST00000371122.4	-	1	205	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D26Y|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D26Y	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	26					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.D26Y(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGCTGCTCGTCCTCTATGACC	0.697000													14	61					2.31682e-05	3.16506e-05	0.003163	1	0
GREB1	9687	broad.mit.edu	37	2	11732998	11732998	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:11732998C>T	ENST00000381486.2	+	11	1742	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	GREB1_ENST00000234142.5_Missense_Mutation_p.A481V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	481						integral to membrane		p.A481V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACCAGCAGGCGCCGCCGCAG	0.731000													4	14					0	0	0.000602	0	0
ZNF133	7692	broad.mit.edu	37	20	18297153	18297153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:18297153G>T	ENST00000377671.3	+	7	2214	c.1655G>T	c.(1654-1656)aGg>aTg	p.R552M	ZNF133_ENST00000535822.1_Missense_Mutation_p.R458M|ZNF133_ENST00000402618.2_Missense_Mutation_p.R490M|ZNF133_ENST00000538547.1_Missense_Mutation_p.R458M|ZNF133_ENST00000401790.1_Missense_Mutation_p.R553M|ZNF133_ENST00000316358.4_Missense_Mutation_p.R553M|ZNF133_ENST00000396026.3_Missense_Mutation_p.R556M|ZNF133_ENST00000462170.1_3'UTR	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	553						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R552M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TACATGTGCAGGCAGTGTGGA	0.582000													11	73					0.00010058	0.000133042	0.001368	1	0
SAGE1	55511	broad.mit.edu	37	X	134983834	134983834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:134983834G>A	ENST00000535938.1	+	3	371	c.204G>A	c.(202-204)tgG>tgA	p.W68*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.W68*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.W68*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.W68*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	68								p.W68*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCCTCGTGGTTAGACAAAC	0.428000													65	298					0	0	0.003610	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	72					0	0	0.001168	0	0
CACNA1D	776	broad.mit.edu	37	3	53752403	53752403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:53752403G>T	ENST00000288139.3	+	10	1584	c.1466G>T	c.(1465-1467)tGt>tTt	p.C489F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.C489F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.C489F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	489					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C489F(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGGCTGCTGTGGAAGTCTC	0.597000													4	50					0.00024832	0.000321658	0.000248	1	0
LRP1B	53353	broad.mit.edu	37	2	141093256	141093256	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:141093256C>T	ENST00000389484.3	-	78	13015	c.12044G>A	c.(12043-12045)gGc>gAc	p.G4015D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4015					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4015D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTGGGGCCATTCAGCTG	0.418000										TSP Lung(27;0.18)			51	149					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190068080	190068080	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:190068080G>C	ENST00000367462.3	-	8	1600	c.1369C>G	c.(1369-1371)Cgc>Ggc	p.R457G	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R355G	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		457						extracellular region		p.R457G(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGCGGGTGCGGTTGTCTGGT	0.622000													24	113					0	0	0.002299	0	0
BSN	8927	broad.mit.edu	37	3	49694474	49694474	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:49694474G>A	ENST00000296452.4	+	5	7599	c.7485G>A	c.(7483-7485)ttG>ttA	p.L2495L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2495					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.L2495L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGCTGAGTTGGCCCAGAATG	0.637000													8	32					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:7577548C>A	ENST00000420246.2	-	7	865	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	63					2.75727e-19	6.15463e-19	0.004878	1	0
SIRPA	140885	broad.mit.edu	37	20	1895886	1895886	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:1895886C>A	ENST00000358771.4	+	2	373	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	SIRPA_ENST00000400068.3_Missense_Mutation_p.P74Q|SIRPA_ENST00000356025.3_Missense_Mutation_p.P74Q	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	74	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.P74Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGAGCTGGACCAGGCCGGGAA	0.537000													20	100					1.55795e-14	3.07894e-14	0.001882	1	0
SLC1A3	6507	broad.mit.edu	37	5	36608599	36608599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:36608599G>A	ENST00000265113.4	+	2	550	c.74G>A	c.(73-75)cGc>cAc	p.R25H	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R25H	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	25					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R25H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GTCCGTAAACGCACACTTTTG	0.463000													21	1560					0	0	0.001855	0	0
FAM83G	644815	broad.mit.edu	37	17	18907267	18907267	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:18907267C>T	ENST00000388995.6	-	2	311	c.88G>A	c.(88-90)Gag>Aag	p.E30K	SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E30K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E30K|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	30								p.E30K(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCCGCTGCTCCTCGCTGTAG	0.652000													18	46					0	0	0.004990	0	0
LRP6	4040	broad.mit.edu	37	12	12311984	12311984	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr12:12311984C>A	ENST00000261349.4	-	12	2646	c.2570G>T	c.(2569-2571)cGt>cTt	p.R857L	LRP6_ENST00000543091.1_Missense_Mutation_p.R857L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	857	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R857L(1)|p.R857H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTGTTGGCACGCTCAATGCT	0.488000													14	72					1.3612e-06	1.97849e-06	0.003163	1	0
PRAMEF6	440561	broad.mit.edu	37	1	13001343	13001343	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:13001343T>C	ENST00000376189.1	-	3	439	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M114V|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	114								p.M114V(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAAACCATCCAGAAGTTC	0.483000													39	561					0	0	0.003610	0	0
SOCS6	9306	broad.mit.edu	37	18	67992886	67992886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:67992886G>T	ENST00000397942.3	+	2	1298	c.982G>T	c.(982-984)Gga>Tga	p.G328*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G328*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	328					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		p.G328*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAACTTCAGTGGACTCACTGG	0.493000													12	53					6.40141e-05	8.58098e-05	0.000978	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553068	140553068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:140553068G>T	ENST00000231137.3	+	1	826	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		218	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGCTCTCCTCC	0.537000													11	58					2.27111e-07	3.53756e-07	0.001368	1	0
AMER1	139285	broad.mit.edu	37	X	63410828	63410828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:63410828C>A	ENST00000330258.3	-	2	2611	c.2339G>T	c.(2338-2340)gGg>gTg	p.G780V	AMER1_ENST00000403336.1_Missense_Mutation_p.G780V|AMER1_ENST00000374869.3_Missense_Mutation_p.G780V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.G780V(2)									AAAGAGGTTCCCATTGCTGGT	0.512000													11	35					2.80697e-09	4.67829e-09	0.000978	1	0
IRS4	8471	broad.mit.edu	37	X	107977841	107977841	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:107977841A>T	ENST00000372129.2	-	1	1810	c.1734T>A	c.(1732-1734)gaT>gaA	p.D578E		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	578						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.D578E(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCCATGGCCATCTCCAGGTC	0.612000													61	277					0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220422763	220422763	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr2:220422763A>G	ENST00000404537.1	-	11	3628	c.3572T>C	c.(3571-3573)gTg>gCg	p.V1191A	OBSL1_ENST00000373876.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000603926.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000265318.4_Missense_Mutation_p.V1099A|OBSL1_ENST00000265317.5_Missense_Mutation_p.V182A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1191	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.V1191A(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCTCAGCACCACTGGCTCCCC	0.647000													5	36					0	0	0.000602	0	0
JPH2	57158	broad.mit.edu	37	20	42815288	42815288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr20:42815288C>A	ENST00000372980.3	-	1	930	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	JPH2_ENST00000342272.3_Missense_Mutation_p.G20W	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	20	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G20L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTTTCCCCCCTCCCAGCCC	0.627000													13	32					7.93312e-07	1.16664e-06	0.002450	1	0
FAM45A	404636	broad.mit.edu	37	10	120877099	120877099	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:120877099T>A	ENST00000361432.2	+	4	427	c.401T>A	c.(400-402)aTa>aAa	p.I134K	FAM45A_ENST00000535029.1_Missense_Mutation_p.I134K|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	134								p.I134K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACAAAGGGGATATGCCAGAGT	0.433000													26	137					0	0	0.004656	0	0
LECT1	11061	broad.mit.edu	37	13	53286963	53286963	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:53286963A>T	ENST00000448904.2	-	5	620	c.510T>A	c.(508-510)ctT>ctA	p.L170L	LECT1_ENST00000377962.3_Silent_p.L170L	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	170	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.L170L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCACCCAGATAAGAGAATTTT	0.398000													30	94					0	0	0.001512	0	0
PLCB2	5330	broad.mit.edu	37	15	40586546	40586546	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr15:40586546A>G	ENST00000260402.3	-	19	2231	c.1982T>C	c.(1981-1983)aTg>aCg	p.M661T	PLCB2_ENST00000557821.1_Missense_Mutation_p.M657T|PLCB2_ENST00000456256.2_Missense_Mutation_p.M661T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	661	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M657T(1)|p.M661T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGGCCGGCGCATGAACTCATG	0.582000													15	56					0	0	0.002450	0	0
CYBB	1536	broad.mit.edu	37	X	37655268	37655268	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:37655268C>A	ENST00000378588.4	+	6	615	c.548C>A	c.(547-549)aCg>aAg	p.T183K	CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.T151K	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	183	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.T183K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTGTCATCACGCTGTGCCTC	0.453000													13	71					9.31168e-06	1.30782e-05	0.001855	1	0
MYOF	26509	broad.mit.edu	37	10	95066741	95066741	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr10:95066741C>A	ENST00000371501.4	-	54	6287	c.6165G>T	c.(6163-6165)aaG>aaT	p.K2055N	MYOF_ENST00000359263.4_Missense_Mutation_p.K2055N|MYOF_ENST00000371502.4_Missense_Mutation_p.K2045N|MYOF_ENST00000358334.5_Missense_Mutation_p.K2042N			Q9NZM1	MYOF_HUMAN	myoferlin	2055					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.K2055N(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTTACAATCTTCATTGACA	0.348000													25	135					1.42536e-11	2.62014e-11	0.004656	1	0
CXorf56	63932	broad.mit.edu	37	X	118675326	118675326	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:118675326G>C	ENST00000320339.4	-	6	695	c.424C>G	c.(424-426)Cgc>Ggc	p.R142G	CXorf56_ENST00000476164.1_Missense_Mutation_p.R191G|CXorf56_ENST00000536133.1_Missense_Mutation_p.R177G|CXorf56_ENST00000486230.1_Missense_Mutation_p.R191G|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000371594.4_Missense_Mutation_p.R191G	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	191							protein binding	p.R191G(1)		cervix(1)|endometrium(2)|lung(7)	10						ATGCCTTTGCGCTCCAGCTGT	0.493000													57	216					0	0	0.003610	0	0
ZNF397	84307	broad.mit.edu	37	18	32822650	32822650	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr18:32822650G>C	ENST00000330501.7	+	2	369	c.216G>C	c.(214-216)caG>caC	p.Q72H	ZNF397_ENST00000591206.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000355632.4_Missense_Mutation_p.Q72H|ZNF397_ENST00000585800.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000592264.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.Q72H	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	72	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q72H(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GCCGACTCCAGGAACTTTGCT	0.512000													13	71					0	0	0.001855	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130516	117130516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:117130516C>A	ENST00000310357.3	-	2	480	c.459G>T	c.(457-459)atG>atT	p.M153I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.M153I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.M153I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	153					response to amino acid stimulus		G-protein coupled receptor activity	p.M153I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGGAGACAGCCATAGTTATTT	0.413000													18	122					6.44725e-10	1.11544e-09	0.002299	1	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	111					0	0	0.000248	0	0
PODN	127435	broad.mit.edu	37	1	53542969	53542969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:53542969G>T	ENST00000371500.3	+	8	1117	c.776G>T	c.(775-777)cGc>cTc	p.R259L	PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R278L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	230					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R278L(1)|p.R278H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTTCCTGCGCCACGTGCCC	0.637000													27	147					8.24728e-16	1.69697e-15	0.004656	1	0
INADL	10207	broad.mit.edu	37	1	62626589	62626589	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:62626589G>T	ENST00000371158.2	+	43	5502	c.5388G>T	c.(5386-5388)ctG>ctT	p.L1796L		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1796					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1796L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGGAGCAGCTGCAGATGACGG	0.408000													16	66					1.67942e-08	2.72632e-08	0.006122	1	0
KIF2B	84643	broad.mit.edu	37	17	51901012	51901012	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr17:51901012G>T	ENST00000268919.4	+	1	774	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	206					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L206L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAGTCCTGGAGCCCCCGC	0.552000													10	64					1.58986e-06	2.29749e-06	0.000673	1	0
TSR2	90121	broad.mit.edu	37	X	54466893	54466893	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:54466893G>T	ENST00000375151.4	+	1	60	c.39G>T	c.(37-39)cgG>cgT	p.R13R		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	13					rRNA processing		protein binding	p.R13R(1)		breast(1)|endometrium(3)|lung(2)	6						CTCTTTTCCGGGCTGGGGTCT	0.697000													4	16					0.00024832	0.000321658	0.000248	1	0
PI16	221476	broad.mit.edu	37	6	36930861	36930861	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr6:36930861T>A	ENST00000373674.3	+	5	1071	c.743T>A	c.(742-744)gTc>gAc	p.V248D	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	248						extracellular region|integral to membrane	peptidase inhibitor activity	p.V248D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTAACAGAGGTCTCAGGCTCC	0.577000													22	131					0	0	0.002299	0	0
ADAM9	8754	broad.mit.edu	37	8	38948862	38948862	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr8:38948862A>G	ENST00000487273.2	+	20	2373	c.2295A>G	c.(2293-2295)gaA>gaG	p.E765E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	765				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.E765E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTCCCAGAGAAGTTGTAAGTA	0.348000													19	153					0	0	0.006122	0	0
FAM194A	131831	broad.mit.edu	37	3	150421307	150421307	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr3:150421307G>C	ENST00000295910.6	-	1	431	c.379C>G	c.(379-381)Ccc>Gcc	p.P127A	FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	127								p.P127A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTGCTGGAGGGTGGGCTTGCG	0.667000													7	55					0	0	0.001984	0	0
ANO3	63982	broad.mit.edu	37	11	26664731	26664731	+	Silent	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:26664731T>C	ENST00000256737.3	+	23	3130	c.2278T>C	c.(2278-2280)Ttg>Ctg	p.L760L	ANO3_ENST00000537978.1_Silent_p.L744L|ANO3_ENST00000531568.1_Silent_p.L614L|ANO3_ENST00000525139.1_Silent_p.L744L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	760						chloride channel complex	chloride channel activity	p.L760L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTTGCAGTTTTGCAATTTGG	0.343000													24	86					0	0	0.003954	0	0
XIST	7503	broad.mit.edu	37	X	73064562	73064562	+	RNA	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chrX:73064562T>C	ENST00000429829.1	-	0	8026					NR_001564.2																						GCCAGGAAAATGGGCCTTGGT	0.463000													18	98					0	0	0.007413	0	0
KCNH5	27133	broad.mit.edu	37	14	63447817	63447817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:63447817T>A	ENST00000322893.7	-	6	983	c.715A>T	c.(715-717)Aaa>Taa	p.K239*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.K239*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.K181*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.K181*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	239					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.K181*(1)|p.K239*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCTTTGTTTTGAAGGAAACA	0.368000													7	48					0	0	0.001984	0	0
MED15	51586	broad.mit.edu	37	22	20922826	20922826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:20922826G>T	ENST00000263205.7	+	8	1129	c.1060G>T	c.(1060-1062)Gtg>Ttg	p.V354L	MED15_ENST00000292733.7_Missense_Mutation_p.V354L|MED15_ENST00000406969.1_Missense_Mutation_p.V328L|MED15_ENST00000425759.2_Missense_Mutation_p.V243L|MED15_ENST00000382974.2_Missense_Mutation_p.V283L|MED15_ENST00000542773.1_Missense_Mutation_p.159_159insL|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.V328L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	354	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.V354L(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TCCGATGGTGGTGCAGCAGCC	0.597000													4	27					1.23904e-05	1.75985e-05	0.000602	1	0
FAM19A1	407738	broad.mit.edu	37	3	68055839	68055839	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:68055839C>A	ENST00000478136.1	+	2	560	c.70C>A	c.(70-72)Cat>Aat	p.H24N	FAM19A1_ENST00000496687.1_Missense_Mutation_p.H24N	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	24						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCTACTCTGCCATGGATCCCT	0.502000													16	141					2.23348e-06	3.28043e-06	0.004007	1	0
FOLH1	2346	broad.mit.edu	37	11	49175441	49175441	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:49175441C>A	ENST00000340334.7	-	18	2250	c.1882G>T	c.(1882-1884)Gct>Tct	p.A628S	FOLH1_ENST00000343844.4_Missense_Mutation_p.A335S|FOLH1_ENST00000256999.2_Missense_Mutation_p.A643S|FOLH1_ENST00000533034.1_Missense_Mutation_p.A628S|FOLH1_ENST00000356696.3_Missense_Mutation_p.A643S	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	643					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.A643S(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AACTTGGAAGCAATTTCTGTA	0.313000													10	66					7.48243e-07	1.13777e-06	0.006214	1	0
ZNF385D	79750	broad.mit.edu	37	3	21606170	21606170	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:21606170G>T	ENST00000281523.2	-	3	690	c.172C>A	c.(172-174)Ccg>Acg	p.P58T	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTCTGAATCGGGTCCATCTGT	0.358000													13	57					4.3838e-07	6.7857e-07	0.001855	1	0
ARSI	340075	broad.mit.edu	37	5	149676935	149676935	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:149676935C>A	ENST00000328668.7	-	2	2131	c.1552G>T	c.(1552-1554)Ggt>Tgt	p.G518C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	518						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	p.G518C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCAAGCACCCCCATTAAAG	0.607000													17	120					3.32936e-07	5.23185e-07	0.006122	1	0
PABPC5	140886	broad.mit.edu	37	X	90690795	90690795	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:90690795G>C	ENST00000312600.3	+	2	433	c.219G>C	c.(217-219)gaG>gaC	p.E73D	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	73	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.E73D(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CGGATGCAGAGTGGGCCTTGA	0.532000													7	37					0	0	0.001984	0	0
SF3B1	23451	broad.mit.edu	37	2	198265462	198265462	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:198265462C>A	ENST00000335508.5	-	18	2786	c.2695G>T	c.(2695-2697)Gct>Tct	p.A899S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	899					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.A899S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGAAAGCATAAAGAATA	0.313000			Mis		myelodysplastic syndrome								11	78					4.36969e-10	7.81706e-10	0.001855	1	0
HELLS	3070	broad.mit.edu	37	10	96333850	96333850	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:96333850A>G	ENST00000348459.5	+	8	716	c.611A>G	c.(610-612)aAg>aGg	p.K204R	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.K204R|HELLS_ENST00000394044.1_Missense_Mutation_p.K204R|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.K204R	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	204					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	p.K204R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CCAGTCCGGAAGTGTAATGGT	0.393000													32	170					0	0	0.002836	0	0
ATP5G3	518	broad.mit.edu	37	2	176043042	176043042	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:176043042C>G	ENST00000284727.4	-	5	3427	c.403G>C	c.(403-405)Gct>Cct	p.A135P	ATP5G3_ENST00000409194.1_Missense_Mutation_p.A135P|ATP5G3_ENST00000392541.3_Missense_Mutation_p.A135P	NM_001002258.4|NM_001689.4	NP_001002258.1|NP_001680.1	P48201	AT5G3_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)	135					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding	p.A135P(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			ATCAAGAAAGCAACCATCAAA	0.398000													15	110					0	0	0.003163	0	0
GLP1R	2740	broad.mit.edu	37	6	39047364	39047364	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:39047364C>A	ENST00000373256.4	+	11	1111	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	356					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.L356L(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CGCTGACACTCATCCCCCTGC	0.577000													9	71					0.000978159	0.00126427	0.000978	1	0
INHBA	3624	broad.mit.edu	37	7	41730102	41730102	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:41730102C>T	ENST00000242208.4	-	3	673	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E143K|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	143					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TCACTGCCTTCCTTGGAAATC	0.502000										TSP Lung(11;0.080)			15	47					0	0	0.003163	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29938182	29938182	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:29938182G>T	ENST00000378993.1	+	8	1701	c.1028G>T	c.(1027-1029)cGa>cTa	p.R343L	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343L	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	343	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.R343Q(2)|p.R343L(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AATGGACGTCGACACGCCAGC	0.438000													32	95					1.08312e-15	2.27631e-15	0.001786	1	0
FBXW12	285231	broad.mit.edu	37	3	48416855	48416855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:48416855G>T	ENST00000296438.5	+	5	484	c.298G>T	c.(298-300)Gag>Tag	p.E100*	FBXW12_ENST00000436231.1_5'UTR|FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E81*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E100*	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	100								p.E100*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTGAGACGGAGTTGGCTTA	0.393000													9	69					9.70103e-10	1.70593e-09	0.000673	1	0
LPHN2	23266	broad.mit.edu	37	1	82432281	82432281	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:82432281G>T	ENST00000370728.1	+	15	2970	c.2325G>T	c.(2323-2325)ctG>ctT	p.L775L	LPHN2_ENST00000370721.1_Silent_p.L700L|LPHN2_ENST00000271029.4_Silent_p.L775L|LPHN2_ENST00000370725.1_Silent_p.L775L|LPHN2_ENST00000335786.5_Silent_p.L775L|LPHN2_ENST00000370713.1_Silent_p.L762L|LPHN2_ENST00000370715.1_Silent_p.L762L|LPHN2_ENST00000359929.3_Silent_p.L762L|LPHN2_ENST00000370717.2_Silent_p.L775L|LPHN2_ENST00000370723.1_Silent_p.L762L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.L762L|LPHN2_ENST00000394879.1_Silent_p.L762L|LPHN2_ENST00000370730.1_Silent_p.L775L|LPHN2_ENST00000370727.1_Silent_p.L775L			O95490	LPHN2_HUMAN	latrophilin 2	775					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L762L(1)|p.L775L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTTTACCCTGCCACACATTG	0.418000													24	141					2.32416e-17	5.135e-17	0.002299	1	0
SGCG	6445	broad.mit.edu	37	13	23853548	23853548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:23853548G>T	ENST00000218867.3	+	5	560	c.436G>T	c.(436-438)Gac>Tac	p.D146Y	SGCG_ENST00000537476.1_Missense_Mutation_p.D146Y|SGCG_ENST00000545013.1_Missense_Mutation_p.D146Y	NM_000231.2	NP_000222.1	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	146					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.D146Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CAACTCCAACGACGGCAAGCC	0.383000													10	39					0.000978159	0.00126427	0.000978	1	0
CPS1	1373	broad.mit.edu	37	2	211513216	211513216	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:211513216C>T	ENST00000233072.5	+	27	3552	c.3356C>T	c.(3355-3357)gCa>gTa	p.A1119V	CPS1_ENST00000451903.2_Missense_Mutation_p.A668V|CPS1_ENST00000430249.2_Missense_Mutation_p.A1125V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1119	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A1119V(1)|p.A1125V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTGGAATTTGCAAAGTCTGTG	0.323000													24	140					0	0	0.004656	0	0
SERPINA6	866	broad.mit.edu	37	14	94770786	94770786	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:94770786A>G	ENST00000341584.3	-	5	1333	c.1187T>C	c.(1186-1188)cTt>cCt	p.L396P		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	396					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.L396P(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGCCAGGAAAAGGCTGCTCCA	0.527000													3	107					0	0	0.000248	0	0
NLRP10	338322	broad.mit.edu	37	11	7981773	7981773	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:7981773G>T	ENST00000328600.2	-	2	1547	c.1386C>A	c.(1384-1386)taC>taA	p.Y462*		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	462	NACHT.						ATP binding	p.Y462*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGCGGAAGCTGTAGAACTTCT	0.507000													24	146					3.7963e-18	8.53343e-18	0.003330	1	0
ZNF260	339324	broad.mit.edu	37	19	37005408	37005408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:37005408C>A	ENST00000523638.1	-	3	1854	c.733G>T	c.(733-735)Gag>Tag	p.E245*	ZNF260_ENST00000592282.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000593142.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000588993.1_Nonsense_Mutation_p.E245*	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	245					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E245*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TAAGGTTTCTCTCCTGTGTGA	0.418000													30	129					5.90632e-09	9.94648e-09	0.002445	1	0
INHBA	3624	broad.mit.edu	37	7	41730103	41730103	+	Missense_Mutation	SNP	C	C	A	rs151132792		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:41730103C>A	ENST00000242208.4	-	3	672	c.426G>T	c.(424-426)aaG>aaT	p.K142N	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	142					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.K142_E143>NK(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CACTGCCTTCCTTGGAAATCT	0.502000										TSP Lung(11;0.080)			13	47					9.31168e-06	1.34099e-05	0.001855	1	0
C3orf27	23434	broad.mit.edu	37	3	128292497	128292497	+	Missense_Mutation	SNP	C	C	T	rs141693917		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:128292497C>T	ENST00000356020.2	-	3	1042	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	26								p.V26I(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCGGGAGACGCTGAGTCTA	0.592000													10	28					0	0	0.000978	0	0
ASXL3	80816	broad.mit.edu	37	18	31323602	31323602	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:31323602C>G	ENST00000269197.5	+	12	3790	c.3790C>G	c.(3790-3792)Cta>Gta	p.L1264V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1264	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	p.L1264V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATCCTCTGTCCTAATGTCTGT	0.378000													19	76					0	0	0.007413	0	0
SMPD3	55512	broad.mit.edu	37	16	68405827	68405827	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:68405827G>T	ENST00000219334.5	-	3	861	c.258C>A	c.(256-258)tcC>tcA	p.S86S	SMPD3_ENST00000568373.1_Silent_p.S86S|SMPD3_ENST00000563226.1_Silent_p.S86S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	86					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.S86S(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACTGCAGTGGGGACCAGAAGA	0.657000													5	63					0.000602214	0.000788215	0.000602	1	0
NALCN	259232	broad.mit.edu	37	13	102047695	102047695	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:102047695T>A	ENST00000251127.6	-	3	211	c.130A>T	c.(130-132)Atc>Ttc	p.I44F	NALCN_ENST00000376196.3_Missense_Mutation_p.I44F|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.I44F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	44						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I44F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATGGCACAGATGCGCAGCAAA	0.433000													9	54					0	0	0.004482	0	0
TM4SF1	4071	broad.mit.edu	37	3	149093324	149093324	+	Missense_Mutation	SNP	A	A	T	rs140811683		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:149093324A>T	ENST00000472441.1	-	1	175	c.52T>A	c.(52-54)Tgt>Agt	p.C18S	TM4SF1_ENST00000305366.3_Missense_Mutation_p.C107S			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	107						integral to plasma membrane		p.C107S(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACAATGACACAGTAGCCAGAT	0.512000													8	56					0	0	0.003080	0	0
LMTK2	22853	broad.mit.edu	37	7	97822738	97822738	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:97822738C>G	ENST00000297293.5	+	11	3254	c.2961C>G	c.(2959-2961)ttC>ttG	p.F987L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	987					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F987L(2)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCACCCTTCCCAGCCTCTG	0.567000													12	177					0	0	0.001855	0	0
DNAH8	1769	broad.mit.edu	37	6	38905924	38905924	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:38905924C>T	ENST00000359357.3	+	76	11341	c.11087C>T	c.(11086-11088)aCa>aTa	p.T3696I	DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660I					dynein, axonemal, heavy chain 8									p.T3696I(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTCATCACAGAGATGAGC	0.522000													37	69					0	0	0.004878	0	0
CNGA4	1262	broad.mit.edu	37	11	6260974	6260974	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:6260974G>T	ENST00000379936.2	+	3	340	c.225G>T	c.(223-225)acG>acT	p.T75T	CNGA4_ENST00000533426.1_Silent_p.T35T	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	75					response to stimulus|sensory perception of smell		cAMP binding	p.T75T(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGACTACACGAGTGACCTGC	0.537000													6	20					2.0095e-06	2.96832e-06	0.001984	1	0
SIMC1	375484	broad.mit.edu	37	5	175716950	175716950	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:175716950A>G	ENST00000443967.1	+	4	773	c.366A>G	c.(364-366)gtA>gtG	p.V122V	SIMC1_ENST00000429602.2_Silent_p.V141V|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron					SUMO-interacting motifs containing 1									p.V122V(1)									ACACCTTTGTAGGTCCCCCAC	0.493000													3	106					0	0	0.004672	0	0
DIDO1	11083	broad.mit.edu	37	20	61528277	61528277	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:61528277C>A	ENST00000266070.4	-	7	1985	c.1660G>T	c.(1660-1662)Ggc>Tgc	p.G554C	DIDO1_ENST00000395335.2_Missense_Mutation_p.G554C|DIDO1_ENST00000395343.1_Missense_Mutation_p.G554C|DIDO1_ENST00000395340.1_Missense_Mutation_p.G554C	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	554					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G554C(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACCGCGGAGCCTGGAGGGGCT	0.552000													8	57					2.17888e-05	3.06109e-05	0.006214	1	0
AGAP1	116987	broad.mit.edu	37	2	236706518	236706518	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:236706518G>T	ENST00000409538.1	+	7	2080	c.1584G>T	c.(1582-1584)gtG>gtT	p.V528V	AGAP1_ENST00000304032.7_Silent_p.V263V|AGAP1_ENST00000336665.5_Silent_p.V263V|AGAP1_ENST00000409457.1_Silent_p.V263V|AGAP1_ENST00000428334.2_Silent_p.V102V			Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	263	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	p.V263V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCTGCCGTGCACATCAGCC	0.493000													42	205					1.62957e-23	3.91855e-23	0.001951	1	0
OR2M7	391196	broad.mit.edu	37	1	248486947	248486947	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:248486947G>T	ENST00000317965.2	-	1	952	c.924C>A	c.(922-924)ggC>ggA	p.G308G		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G308G(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			CTCCAGACTTGCCCTTTCCTA	0.378000													14	53					4.7546e-09	8.08595e-09	0.004007	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871780	51871780	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:51871780G>T	ENST00000371497.5	+	2	2670	c.1783G>T	c.(1783-1785)Gcc>Tcc	p.A595S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A592S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A592S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	595					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACACACCTGGCCCCTTACAC	0.512000													28	153					4.22769e-11	7.89068e-11	0.006320	1	0
SIAH3	283514	broad.mit.edu	37	13	46425646	46425646	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:46425646G>T	ENST00000400405.2	-	1	225	c.119C>A	c.(118-120)cCc>cAc	p.P40H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	40					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	p.P40H(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						GTTGTGTGTGGGGTTGACGAC	0.537000													11	76					0.00010058	0.000136482	0.001368	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125232346	125232346	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:125232346A>T	ENST00000431078.1	+	7	1313	c.949A>T	c.(949-951)Aaa>Taa	p.K317*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	317	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.K317*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTACCAGGAAAACCTGGGAC	0.368000													7	22					0	0	0.001984	0	0
WSB1	26118	broad.mit.edu	37	17	25631888	25631888	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:25631888G>T	ENST00000262394.2	+	4	877	c.561G>T	c.(559-561)gtG>gtT	p.V187V	WSB1_ENST00000348811.2_Silent_p.V41V|WSB1_ENST00000427287.2_Silent_p.V156V|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Silent_p.V41V|WSB1_ENST00000581185.1_Silent_p.V187V	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	187					intracellular signal transduction	intracellular	protein binding	p.V187V(1)		lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGATCCTGGTGTCAGCTTCAA	0.378000													28	117					6.38683e-12	1.22296e-11	0.001512	1	0
PTPRT	11122	broad.mit.edu	37	20	41306576	41306576	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:41306576G>C	ENST00000373198.3	-	7	1318	c.1083C>G	c.(1081-1083)ctC>ctG	p.L361L	PTPRT_ENST00000373187.1_Silent_p.L361L|PTPRT_ENST00000373193.3_Silent_p.L361L|PTPRT_ENST00000373201.1_Silent_p.L361L|PTPRT_ENST00000356100.2_Silent_p.L361L|PTPRT_ENST00000373184.1_Silent_p.L361L|PTPRT_ENST00000373190.1_Silent_p.L361L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	361	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.L361L(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTCGTGTGAGGAGCACTCGGA	0.572000													8	138					0	0	0.004482	0	0
OSBP2	23762	broad.mit.edu	37	22	31285535	31285535	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:31285535G>A	ENST00000332585.6	+	7	1639	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	OSBP2_ENST00000407373.1_Missense_Mutation_p.R339H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R56H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R254H|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.R511H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R145H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R346H	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	512					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGGCGAGTCCGCATTCCCAAC	0.597000													5	199					0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169510755	169510755	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:169510755G>T	ENST00000367796.3	-	13	3789	c.3588C>A	c.(3586-3588)agC>agA	p.S1196R	F5_ENST00000367797.3_Missense_Mutation_p.S1191R			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1191	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.S1191R(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGGTCACCTGGCTGAGGTCTG	0.512000													102	313					8.27256e-43	2.07617e-42	0.003610	1	0
TNN	63923	broad.mit.edu	37	1	175096160	175096160	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:175096160C>A	ENST00000239462.4	+	13	3097	c.2984C>A	c.(2983-2985)cCc>cAc	p.P995H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	995	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P995H(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACCTGGACGCCCCCCTCTGCT	0.502000													13	124					7.03913e-09	1.18157e-08	0.001368	1	0
MYH8	4626	broad.mit.edu	37	17	10296216	10296216	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:10296216G>A	ENST00000403437.2	-	37	5489	c.5395C>T	c.(5395-5397)Cgt>Tgt	p.R1799C	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1799C(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATCTAGACGATGCTGCAGG	0.572000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				54	175					0	0	0.003610	0	0
USP16	10600	broad.mit.edu	37	21	30403014	30403014	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:30403014G>T	ENST00000334352.4	+	4	391	c.160G>T	c.(160-162)Gac>Tac	p.D54Y	USP16_ENST00000399976.2_Missense_Mutation_p.D54Y|USP16_ENST00000399975.3_Missense_Mutation_p.D54Y|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	54					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.D54Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTGTAAGACTGACAATAAAGT	0.373000													11	66					0.00136819	0.00175088	0.001368	1	0
FGB	2244	broad.mit.edu	37	4	155490895	155490895	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:155490895C>A	ENST00000302068.4	+	7	1251	c.1188C>A	c.(1186-1188)acC>acA	p.T396T	FGB_ENST00000509493.1_Silent_p.T177T|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	396	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T396T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAACAGGACCATGACCATTC	0.458000													25	91					4.7796e-09	8.10182e-09	0.004656	1	0
PTPRB	5787	broad.mit.edu	37	12	70948941	70948941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:70948941A>T	ENST00000451516.2	-	17	4217	c.4218T>A	c.(4216-4218)gaT>gaA	p.D1406E	PTPRB_ENST00000550857.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000550358.1_Splice_Site_p.D1626_splice|PTPRB_ENST00000538708.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000334414.6_Splice_Site_p.D1714_splice|PTPRB_ENST00000261266.5_Splice_Site_p.D1496_splice	NM_001206971.1	NP_001193900.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1496	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1496E(2)|p.D1714E(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAACTTACCATCAGCCTCTC	0.423000													4	77					0	0	0.000248	0	0
CACNA1C	775	broad.mit.edu	37	12	2714893	2714893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:2714893G>T	ENST00000399655.1	+	24	3362	c.3097G>T	c.(3097-3099)Gtg>Ttg	p.V1033L	CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1053L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1058L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1053L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1033L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1053					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.V1033L(2)|p.V1083L(1)|p.V1053L(1)|p.V568L(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGGGAACATCGTGATTGTCAC	0.587000													9	52					6.40141e-05	8.80194e-05	0.000978	1	0
RTEL1	51750	broad.mit.edu	37	20	62292695	62292695	+	Silent	SNP	G	G	C	rs114124243	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:62292695G>C	ENST00000318100.4	+	3	974	c.147G>C	c.(145-147)acG>acC	p.T49T	RTEL1_ENST00000370018.3_Silent_p.T49T|RTEL1_ENST00000508582.2_Silent_p.T49T|RTEL1_ENST00000360203.5_Silent_p.T49T|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T49T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	49	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.T49T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAGGGAAGACGCTGTGCCTGC	0.627000													13	52					0	0	0.003163	0	0
SPATA6L	55064	broad.mit.edu	37	9	4625390	4625390	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:4625390C>A	ENST00000454239.2	-	7	851	c.606G>T	c.(604-606)caG>caT	p.Q202H	SPATA6L_ENST00000381895.5_Missense_Mutation_p.Q79H|SPATA6L_ENST00000475086.1_Missense_Mutation_p.Q144H|SPATA6L_ENST00000381890.5_Missense_Mutation_p.Q216H			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	144								p.Q202H(1)									CAAGGTTCAACTGAGCTGGCT	0.428000													20	68					1.96292e-10	3.56081e-10	0.001523	1	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374287	95374287	+	RNA	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:95374287G>T	ENST00000494840.1	-	0	1574					NR_077228.1																						TTCTTCCCTAGGGTTGGAATG	0.453000													16	50					1.99824e-07	3.19841e-07	0.004990	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145473875	145473875	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:145473875T>A	ENST00000323397.4	+	4	1840	c.547T>A	c.(547-549)Tcg>Acg	p.S183T		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	183								p.S183T(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTCTGCACGTCGCCTTCGGA	0.612000													21	99					0	0	0.001882	0	0
CD300LB	124599	broad.mit.edu	37	17	72527477	72527477	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:72527477G>T	ENST00000392621.1	-	1	128	c.124C>A	c.(124-126)Cct>Act	p.P42T	CD300LB_ENST00000314401.3_Missense_Mutation_p.P42T	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	5	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.P42T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGCAGAGCAGGGGGCAGCCAC	0.627000													13	47					9.04627e-18	2.01592e-17	0.001855	1	0
FUZ	80199	broad.mit.edu	37	19	50314895	50314895	+	Missense_Mutation	SNP	T	T	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:50314895T>G	ENST00000313777.4	-	4	543	c.380A>C	c.(379-381)gAc>gCc	p.D127A	FUZ_ENST00000445575.2_Missense_Mutation_p.D127A|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.D77A|FUZ_ENST00000528094.1_Missense_Mutation_p.D91A|FUZ_ENST00000526575.1_3'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	127					cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		p.D127A(1)		endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		CACCCTCAAGTCCTTCTTCAG	0.547000													13	495					0	0	0.004007	0	0
COL3A1	1281	broad.mit.edu	37	2	189873907	189873907	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:189873907C>G	ENST00000304636.3	+	48	3953	c.3783C>G	c.(3781-3783)aaC>aaG	p.N1261K	COL3A1_ENST00000317840.5_Missense_Mutation_p.N958K	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1261	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.N1261K(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCGCTAGAAACTGCAGAGACC	0.403000													4	136					0	0	0.000248	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920027	5920027	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:5920027G>C	ENST00000399933.3	-	8	5968	c.5969C>G	c.(5968-5970)gCt>gGt	p.A1990G	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A1960G	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1990								p.A1165G(1)|p.A1990G(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGAACCTTAGCAGTTGTGTT	0.398000													35	193					0	0	0.004878	0	0
ATG16L1	55054	broad.mit.edu	37	2	234200895	234200895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:234200895C>T	ENST00000392017.4	+	15	1809	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	ATG16L1_ENST00000373525.5_Nonsense_Mutation_p.R339*|ATG16L1_ENST00000347464.5_Nonsense_Mutation_p.R355*|ATG16L1_ENST00000392018.1_Nonsense_Mutation_p.R535*|ATG16L1_ENST00000392020.4_Nonsense_Mutation_p.R499*	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	518					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R518*(1)|p.R177*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TATTGATCTCCGAACAAATGC	0.502000													16	56					0	0	0.003163	0	0
BCOR	54880	broad.mit.edu	37	X	39933626	39933626	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:39933626G>T	ENST00000342274.4	-	4	1335	c.973C>A	c.(973-975)Ctg>Atg	p.L325M	BCOR_ENST00000378455.4_Missense_Mutation_p.L325M|BCOR_ENST00000397354.3_Missense_Mutation_p.L325M|BCOR_ENST00000378444.4_Missense_Mutation_p.L325M	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	325					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L325M(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCCCCGGCAGGCCACTGGTG	0.647000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	37					0.00116845	0.0015027	0.001168	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18602624	18602624	+	RNA	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:18602624G>A	ENST00000546162.2	+	0	1198					NR_003569.1																						TCCCCAAGCTGCTCAGGTGAG	0.587000													13	85					0	0	0.007413	0	0
DNAH5	1767	broad.mit.edu	37	5	13864666	13864666	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:13864666C>A	ENST00000265104.4	-	28	4540	c.4436G>T	c.(4435-4437)tGt>tTt	p.C1479F	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1479	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C1479F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGCGGGCAACACTCGCTGAA	0.527000									Kartagener syndrome				28	60					1.77063e-15	3.6912e-15	0.005443	1	0
PLCB4	5332	broad.mit.edu	37	20	9438112	9438112	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:9438112G>C	ENST00000378501.2	+	30	3027	c.3012G>C	c.(3010-3012)acG>acC	p.T1004T	PLCB4_ENST00000378493.1_Silent_p.T1004T|PLCB4_ENST00000278655.4_Silent_p.T1004T|PLCB4_ENST00000378473.3_Silent_p.T1016T|PLCB4_ENST00000334005.3_Silent_p.T1004T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.T1016T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1004					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T1004T(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AAATTCAGACGCTGACATCAG	0.348000													15	73					0	0	0.006122	0	0
USP7	7874	broad.mit.edu	37	16	8995984	8995984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:8995984C>A	ENST00000344836.4	-	18	2200	c.2002G>T	c.(2002-2004)Gag>Tag	p.E668*	USP7_ENST00000535863.1_Nonsense_Mutation_p.E569*|USP7_ENST00000381886.4_Nonsense_Mutation_p.E652*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	668	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E668*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GCAGCCAGCTCGGGATCAACT	0.463000													8	84					0.000442599	0.000585227	0.006214	1	0
ZNF555	148254	broad.mit.edu	37	19	2852695	2852695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:2852695G>T	ENST00000334241.4	+	4	770	c.632G>T	c.(631-633)cGt>cTt	p.R211L	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210L|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTCCTCGTACTTCCTCC	0.448000													24	75					2.27525e-19	5.27492e-19	0.003954	1	0
ARMC3	219681	broad.mit.edu	37	10	23287230	23287230	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:23287230C>A	ENST00000298032.5	+	11	1413	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	ARMC3_ENST00000409049.3_Silent_p.A443A|ARMC3_ENST00000376528.4_Silent_p.A180A|ARMC3_ENST00000409983.3_Silent_p.A443A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	443							binding	p.A443A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATGCATGCCATCATCAGCC	0.542000													5	16					0.000602214	0.000788215	0.000602	1	0
LONRF3	79836	broad.mit.edu	37	X	118108865	118108865	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:118108865T>C	ENST00000365713.2	+	1	285	c.122T>C	c.(121-123)gTg>gCg	p.V41A	LONRF3_ENST00000371628.3_Missense_Mutation_p.V41A|LONRF3_ENST00000304778.7_Missense_Mutation_p.V41A			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	41					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.V41A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CACCCAAAGGTGGCTGCAGAG	0.662000													3	10					0	0	0.004672	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135239767	135239767	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:135239767T>C	ENST00000265605.2	-	7	1318	c.1250A>G	c.(1249-1251)tAt>tGt	p.Y417C	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.Y363C|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Y367C	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	417					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.Y417C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CGCCAGCCCATACTTAACGTT	0.552000													13	70					0	0	0.001368	0	0
SERPINB13	5275	broad.mit.edu	37	18	61259614	61259614	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:61259614C>A	ENST00000344731.5	+	4	360	c.258C>A	c.(256-258)ttC>ttA	p.F86L	SERPINB13_ENST00000269489.5_Missense_Mutation_p.F86L	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	86					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.F86L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ATCAACAATTCCAAAAGTTTT	0.353000													12	62					0.000151284	0.000204749	0.001855	1	0
ZFP36	7538	broad.mit.edu	37	19	39898874	39898874	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:39898874G>A	ENST00000597629.1	+	2	608	c.534G>A	c.(532-534)ctG>ctA	p.L178L	ZFP36_ENST00000248673.3_Silent_p.L172L			P26651	TTP_HUMAN	ZFP36 ring finger protein	172					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	p.L172L(1)		large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCGAAGACCTGGCGGCCCCGG	0.662000													27	122					0	0	0.004656	0	0
IPO7	10527	broad.mit.edu	37	11	9438673	9438673	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:9438673T>C	ENST00000379719.3	+	6	846	c.704T>C	c.(703-705)gTt>gCt	p.V235A		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	235					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.V235A(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTAAAGACTGTTGTGAACAGG	0.294000													18	87					0	0	0.001523	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793517	30793517	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:30793517C>A	ENST00000458257.1	+	2	336	c.322C>A	c.(322-324)Cca>Aca	p.P108T	INMT_ENST00000409539.1_Missense_Mutation_p.P108T|INMT_ENST00000013222.5_Missense_Mutation_p.P109T|INMT_ENST00000484180.1_3'UTR														p.P109T(1)									TGACTGGACCCCAGCGGTGAA	0.572000													37	130					1.06647e-15	2.25048e-15	0.003755	1	0
LRRC32	2615	broad.mit.edu	37	11	76372209	76372209	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:76372209C>A	ENST00000407242.2	-	3	670	c.428G>T	c.(427-429)cGg>cTg	p.R143L	LRRC32_ENST00000260061.5_Missense_Mutation_p.R143L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R143L	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	143						integral to plasma membrane		p.R143L(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCCCAGCAGCCGCTCCAGCAG	0.687000													14	55					0.000219431	0.000294665	0.002450	1	0
IP6K3	117283	broad.mit.edu	37	6	33690860	33690860	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:33690860A>G	ENST00000451316.1	-	7	1405	c.870T>C	c.(868-870)aaT>aaC	p.N290N	IP6K3_ENST00000293756.4_Silent_p.N290N	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	290					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	p.N290N(1)		skin(1)	1						GGTGGCTTCCATTATGTAGGA	0.502000													22	54					0	0	0.002299	0	0
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:170871076G>A	ENST00000392092.2	+	3	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_ENST00000230354.6_Silent_p.Q84Q|TBP_ENST00000540980.1_Silent_p.Q64Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	84	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q84Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602000													5	38					0	0	0.000602	0	0
COL3A1	1281	broad.mit.edu	37	2	189859522	189859522	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:189859522G>T	ENST00000304636.3	+	20	1590	c.1420G>T	c.(1420-1422)Ggt>Tgt	p.G474C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G474C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	474	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G474C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGAGAACCTGGTGCAAATGG	0.448000													12	93					7.93312e-07	1.19575e-06	0.002450	1	0
FLG	2312	broad.mit.edu	37	1	152283761	152283761	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:152283761G>T	ENST00000368799.1	-	3	3636	c.3601C>A	c.(3601-3603)Cag>Aag	p.Q1201K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1201	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q1201K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTCCCTGGGATGTGGTG	0.567000									Ichthyosis				146	550					1.25085e-53	3.15459e-53	0.003610	1	0
MFF	56947	broad.mit.edu	37	2	228205013	228205013	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:228205013A>T	ENST00000353339.3	+	6	876	c.435A>T	c.(433-435)cgA>cgT	p.R145R	MFF_ENST00000524634.1_5'UTR|MFF_ENST00000304593.9_Silent_p.R119R|MFF_ENST00000409565.1_Silent_p.R119R|MFF_ENST00000337110.7_Silent_p.R119R|MFF_ENST00000349901.7_Silent_p.R119R|MFF_ENST00000409616.1_Silent_p.R119R|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Silent_p.R145R|MFF_ENST00000354503.6_Silent_p.R119R	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	145						integral to membrane|mitochondrial outer membrane		p.R145R(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AACAGATCCGAGCAGTTGGCA	0.428000													14	55					0	0	0.002450	0	0
LRFN5	145581	broad.mit.edu	37	14	42355863	42355863	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:42355863G>A	ENST00000554171.1	+	5	2467	c.35G>A	c.(34-36)gGc>gAc	p.G12D	LRFN5_ENST00000298119.4_Missense_Mutation_p.G12D|LRFN5_ENST00000554120.1_Missense_Mutation_p.G12D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	12						integral to membrane		p.G12D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTCTCATTGGCATAGCAGTG	0.373000										HNSCC(30;0.082)			11	52					0	0	0.000978	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209142361	209142361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:209142361G>T	ENST00000264380.4	+	5	700	c.542G>T	c.(541-543)cGa>cTa	p.R181L	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R181L	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	181					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R181L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACCATTGCCGACTATGTGGG	0.403000													34	121					2.42023e-17	5.30195e-17	0.003271	1	0
SAMSN1	64092	broad.mit.edu	37	21	15872992	15872992	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:15872992T>C	ENST00000285670.2	-	7	1004	c.830A>G	c.(829-831)aAt>aGt	p.N277S	SAMSN1_ENST00000400564.1_Missense_Mutation_p.N41S|SAMSN1_ENST00000400566.1_Missense_Mutation_p.N209S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	209	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.N209S(1)|p.N277S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCCCACTTTATTGTTCAACAT	0.383000													23	130					0	0	0.002299	0	0
DVL3	1857	broad.mit.edu	37	3	183885372	183885372	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:183885372A>T	ENST00000313143.3	+	12	1451	c.1203A>T	c.(1201-1203)ctA>ctT	p.L401L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L384L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	401					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	p.L401L(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCCCAGGCCTAGACGACTTCC	0.527000													7	32					0	0	0.003080	0	0
FAM46D	169966	broad.mit.edu	37	X	79699123	79699123	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:79699123C>A	ENST00000538312.1	+	5	1419	c.1085C>A	c.(1084-1086)cCt>cAt	p.P362H	FAM46D_ENST00000308293.5_Missense_Mutation_p.P362H	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	362								p.P362H(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						GCAAGGTACCCTATTTATGTA	0.428000													8	49					0.00448238	0.00562474	0.004482	1	0
IGSF22	283284	broad.mit.edu	37	11	18745745	18745745	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:18745745G>T	ENST00000513874.1	-	2	178	c.39C>A	c.(37-39)caC>caA	p.H13Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	13								p.H13Q(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCATGGACACGTGCTCCTGCA	0.597000													27	120					1.17739e-12	2.3145e-12	0.005443	1	0
ATP2B1	490	broad.mit.edu	37	12	90028574	90028574	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:90028574C>A	ENST00000428670.3	-	5	1224	c.768G>T	c.(766-768)aaG>aaT	p.K256N	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K256N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	256					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K256N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTAAGGGATCCTTATCTAAAG	0.348000													8	38					7.48243e-07	1.13777e-06	0.006214	1	0
SLC17A4	10050	broad.mit.edu	37	6	25773866	25773866	+	Silent	SNP	G	G	C	rs146741384		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:25773866G>C	ENST00000377905.4	+	8	1070	c.951G>C	c.(949-951)acG>acC	p.T317T	SLC17A4_ENST00000397076.2_Silent_p.T87T|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	317					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.T317T(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCAACGTACATCAGCT	0.388000													46	64					0	0	0.003610	0	0
SYNE2	23224	broad.mit.edu	37	14	64516346	64516346	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:64516346G>C	ENST00000358025.3	+	47	7625	c.7395G>C	c.(7393-7395)ttG>ttC	p.L2465F	SYNE2_ENST00000344113.4_Missense_Mutation_p.L2465F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2498F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2465					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.L2465F(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATACCCAGTTGGAAGCAAAGA	0.358000													7	43					0	0	0.001984	0	0
DENND5B	160518	broad.mit.edu	37	12	31633191	31633191	+	Splice_Site	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:31633191T>A	ENST00000389082.5	-	3	502		c.e3-2		DENND5B_ENST00000354285.4_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B							integral to membrane		p.?(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CATGCACAACTGTGAAAGAAA	0.363000													3	5					0	0	0.004672	0	0
SCG2	7857	broad.mit.edu	37	2	224462975	224462975	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:224462975A>T	ENST00000305409.2	-	2	1258	c.1026T>A	c.(1024-1026)ccT>ccA	p.P342P		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	342					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P342P(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGAATCAAGAGGTTTCTCAA	0.418000													19	152					0	0	0.007413	0	0
USP26	83844	broad.mit.edu	37	X	132160953	132160953	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:132160953G>T	ENST00000511190.1	-	6	1765	c.1296C>A	c.(1294-1296)tgC>tgA	p.C432*	USP26_ENST00000406273.1_Nonsense_Mutation_p.C432*|USP26_ENST00000370832.1_Nonsense_Mutation_p.C432*	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	432					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.C432*(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TAATGACAGGGCAAGAAAACC	0.378000													22	109					1.9806e-07	3.18003e-07	0.002299	1	0
ABCC6P1	653190	broad.mit.edu	37	16	18602625	18602625	+	RNA	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:18602625C>T	ENST00000546162.2	+	0	1199					NR_003569.1																						CCCCAAGCTGCTCAGGTGAGT	0.582000													13	83					0	0	0.006122	0	0
GALNT15	117248	broad.mit.edu	37	3	16268973	16268973	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:16268973G>A	ENST00000339732.5	+	10	2389	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H	GALNT15_ENST00000437509.1_Intron	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15									p.R629H(2)									CAGCAGTGGCGTTTTGACCAG	0.443000													9	77					0	0	0.001368	0	0
SYT4	6860	broad.mit.edu	37	18	40853633	40853633	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:40853633A>T	ENST00000255224.3	-	2	1129	c.761T>A	c.(760-762)aTt>aAt	p.I254N	SYT4_ENST00000590752.1_Missense_Mutation_p.I236N|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	254	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.I254N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AACTTCCCCAATGATATCATC	0.353000													8	53					0	0	0.003080	0	0
BBS2	583	broad.mit.edu	37	16	56519510	56519510	+	Missense_Mutation	SNP	C	C	T	rs138913160	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:56519510C>T	ENST00000245157.5	-	16	2471	c.2051G>A	c.(2050-2052)cGt>cAt	p.R684H	BBS2_ENST00000568104.1_Missense_Mutation_p.R638H	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	684					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	p.R684H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						ACCCCGCAGACGACCTGCTCT	0.388000									Bardet-Biedl syndrome				5	184					0	0	0.000602	0	0
FBXL13	222235	broad.mit.edu	37	7	102517943	102517943	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:102517943C>A	ENST00000393772.2	-	16	2032	c.1606G>T	c.(1606-1608)Gat>Tat	p.D536Y	FBXL13_ENST00000379308.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.D536Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.D536Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.D536Y|FBXL13_ENST00000456695.1_Intron			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	536								p.D536Y(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CCAGAGAGATCTATTGATACC	0.294000													15	69					1.02788e-11	1.94658e-11	0.004990	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704299	56704299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:56704299C>A	ENST00000586855.2	-	2	436	c.123G>T	c.(121-123)gaG>gaT	p.E41D	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E41D			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E41D(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGTGCCAAGTCTCAGGGTTCC	0.577000													9	16					3.09899e-07	4.88468e-07	0.004482	1	0
HNRNPUL2	221092	broad.mit.edu	37	11	62490080	62490080	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:62490080C>A	ENST00000301785.5	-	6	1280	c.1088G>T	c.(1087-1089)tGc>tTc	p.C363F	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.C363F	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	363	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding	p.C363F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TACAGCAAAGCAGCCAATAAC	0.453000													8	64					5.4927e-09	9.28016e-09	0.004482	1	0
SKIL	6498	broad.mit.edu	37	3	170078605	170078605	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:170078605A>C	ENST00000458537.3	+	1	1195	c.486A>C	c.(484-486)gaA>gaC	p.E162D	SKIL_ENST00000259119.4_Missense_Mutation_p.E162D|SKIL_ENST00000426052.2_Missense_Mutation_p.E142D|SKIL_ENST00000413427.2_Missense_Mutation_p.E162D	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	162					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity	p.E162D(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTGGAGGAGAAAAGAGACTCT	0.408000													3	134					0	0	0.000248	0	0
FGD1	2245	broad.mit.edu	37	X	54497808	54497808	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:54497808C>A	ENST00000375135.3	-	2	1153	c.420G>T	c.(418-420)ccG>ccT	p.P140P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	140	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.P140P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGTTTCAGTCGGGGGACCTG	0.607000													32	79					8.88839e-20	2.06995e-19	0.002096	1	0
TRIM69	140691	broad.mit.edu	37	15	45059693	45059693	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:45059693C>T	ENST00000558173.1	+	5	5359	c.614C>T	c.(613-615)cCt>cTt	p.P205L	TRIM69_ENST00000560442.1_Missense_Mutation_p.P205L|TRIM69_ENST00000329464.4_Missense_Mutation_p.P409L|TRIM69_ENST00000338264.4_Missense_Mutation_p.P250L|TRIM69_ENST00000558329.1_Missense_Mutation_p.P188L|TRIM69_ENST00000559390.1_Missense_Mutation_p.P409L|TRIM69_ENST00000561043.1_Missense_Mutation_p.P172L			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	409					apoptosis	nuclear speck	zinc ion binding	p.P409L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCTCTAACTCCTGAGCAAGGA	0.448000													5	84					0	0	0.000602	0	0
WNT5A	7474	broad.mit.edu	37	3	55504432	55504432	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:55504432C>A	ENST00000474267.1	-	6	1352	c.831G>T	c.(829-831)cgG>cgT	p.R277R	WNT5A_ENST00000264634.4_Silent_p.R277R|WNT5A_ENST00000497027.1_Silent_p.R262R			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R370L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GGCTGTTGAGCCGCATGGCCG	0.617000													3	18					0.00024832	0.000330029	0.000248	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157298	26157298	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:26157298G>T	ENST00000325250.1	+	2	383	c.196G>T	c.(196-198)Gga>Tga	p.G66*		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	66							protein binding	p.G66*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCGCTTCAGGGAGCCCCATC	0.532000													12	46					1.61879e-10	2.96778e-10	0.001368	1	0
PTPRN2	5799	broad.mit.edu	37	7	157959945	157959945	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:157959945C>A	ENST00000389413.3	-	6	691	c.588G>T	c.(586-588)gtG>gtT	p.V196V	PTPRN2_ENST00000409483.1_Silent_p.V158V|PTPRN2_ENST00000389416.4_Silent_p.V179V|PTPRN2_ENST00000389418.4_Silent_p.V196V|PTPRN2_ENST00000404321.2_Silent_p.V219V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	196						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V196V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACGTGTGGGCCACATAGGTCA	0.627000													10	78					0.000442599	0.000585227	0.006214	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013289	149013289	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:149013289C>G	ENST00000535454.1	+	4	792	c.243C>G	c.(241-243)agC>agG	p.S81R	MAGEA8_ENST00000542674.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.S81R	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	81								p.S81R(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGTGGAGCCAATCCGATG	0.597000													20	91					0	0	0.007413	0	0
GPR18	2841	broad.mit.edu	37	13	99908075	99908075	+	Missense_Mutation	SNP	G	G	T	rs138394107		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:99908075G>T	ENST00000340807.3	-	3	608	c.52C>A	c.(52-54)Cca>Aca	p.P18T	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P18T|GPR18_ENST00000397470.2_Missense_Mutation_p.P18T|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	18						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P18T(1)		endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TATTCATCTGGATGTGAGCTG	0.358000													30	112					8.88839e-20	2.06995e-19	0.002096	1	0
MCM8	84515	broad.mit.edu	37	20	5958578	5958578	+	Silent	SNP	C	C	T	rs113442872	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:5958578C>T	ENST00000378896.3	+	13	1829	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000378883.1_Silent_p.T437T	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	484	MCM.|Thr-rich.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.T484T(1)|p.T468T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						CCACGACCACCTCTGGTCTGA	0.473000													15	59					0	0	0.003163	0	0
OR2B2	81697	broad.mit.edu	37	6	27879562	27879562	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:27879562C>G	ENST00000303324.2	-	1	612	c.536G>C	c.(535-537)tGt>tCt	p.C179S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AGGGACTTCACAGAAGAAGTG	0.453000													25	128					0	0	0.006320	0	0
TNIK	23043	broad.mit.edu	37	3	170858245	170858245	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:170858245C>A	ENST00000436636.2	-	13	1619	c.1275G>T	c.(1273-1275)cgG>cgT	p.R425R	TNIK_ENST00000475336.1_Silent_p.R425R|TNIK_ENST00000488470.1_Silent_p.R425R|TNIK_ENST00000538048.1_Silent_p.R425R|TNIK_ENST00000460047.1_Silent_p.R425R|TNIK_ENST00000470834.1_Silent_p.R425R|TNIK_ENST00000369326.5_Silent_p.R425R|TNIK_ENST00000357327.5_Silent_p.R425R|TNIK_ENST00000341852.6_Silent_p.R425R|TNIK_ENST00000284483.8_Silent_p.R425R	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	425	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R425R(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTCATAGTGCCGGCGCTGCT	0.652000													40	181					5.44703e-19	1.24607e-18	0.002222	1	0
HTR2A	3356	broad.mit.edu	37	13	47466725	47466725	+	Splice_Site	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:47466725C>A	ENST00000378688.4	-	2	544	c.412_splice	c.e2-1	p.G138_splice	HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice|HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	138					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.G138V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCACCGGTACCCTATGAGGCA	0.567000													16	58					6.94344e-10	1.22937e-09	0.006122	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871779	51871779	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:51871779G>A	ENST00000371497.5	+	2	2669	c.1782G>A	c.(1780-1782)ctG>ctA	p.L594L	TSHZ2_ENST00000603338.2_Silent_p.L591L|TSHZ2_ENST00000329613.6_Silent_p.L591L	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	594					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A595S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACACACCTGGCCCCTTACA	0.517000													29	150					0	0	0.001512	0	0
LRRC66	339977	broad.mit.edu	37	4	52860731	52860731	+	Silent	SNP	C	C	A	rs137931708	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:52860731C>A	ENST00000343457.3	-	4	2463	c.2457G>T	c.(2455-2457)ccG>ccT	p.P819P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane		p.P819P(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TGAACATGCCCGGAAACTCAT	0.468000													13	71					1.61879e-10	2.96778e-10	0.001368	1	0
MUC16	94025	broad.mit.edu	37	19	9074617	9074617	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:9074617T>A	ENST00000397910.4	-	3	13032	c.12829A>T	c.(12829-12831)Acc>Tcc	p.T4277S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4279	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4277S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGGGAGGTAACCAATGGA	0.493000													17	66					0	0	0.004990	0	0
PAOX	196743	broad.mit.edu	37	10	135203244	135203244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:135203244G>T	ENST00000278060.5	+	6	1468	c.1385G>T	c.(1384-1386)gGc>gTc	p.G462V	PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	600					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GACGGCGCCGGCGCCCAGGTA	0.736000													4	30					0.000602214	0.000788215	0.000602	1	0
OR4A47	403253	broad.mit.edu	37	11	48510785	48510785	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:48510785G>T	ENST00000446524.1	+	1	517	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TAGTGTCCTGGGTTGGAGGAT	0.443000													21	101					1.01871e-10	1.89451e-10	0.001216	1	0
CCDC40	55036	broad.mit.edu	37	17	78023992	78023992	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:78023992A>T	ENST00000397545.4	+	7	1096	c.1069A>T	c.(1069-1071)Agc>Tgc	p.S357C	CCDC40_ENST00000269318.5_Missense_Mutation_p.S357C|CCDC40_ENST00000374877.3_Missense_Mutation_p.S357C|CCDC40_ENST00000374876.4_Missense_Mutation_p.S357C	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	357					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		p.S357C(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AATGGCCTCGAGCGAGCGCAG	0.632000													8	22					0	0	0.003080	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916116	42916116	+	Missense_Mutation	SNP	G	G	T	rs141302264		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:42916116G>T	ENST00000316161.4	-	1	1517	c.1193C>A	c.(1192-1194)cCt>cAt	p.P398H	CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398H|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	398					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.P398H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GGTGGGCTCAGGGTGGATGTC	0.547000													34	142					1.67305e-13	3.39202e-13	0.006230	1	0
HKDC1	80201	broad.mit.edu	37	10	71010090	71010090	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:71010090C>T	ENST00000354624.5	+	11	1748	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R539W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	539					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.R539W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AACCAACTTCCGGGTCCTCCT	0.542000													22	208					0	0	0.001882	0	0
HSPB7	27129	broad.mit.edu	37	1	16342123	16342123	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:16342123C>A	ENST00000311890.9	-	3	1291	c.465G>T	c.(463-465)ccG>ccT	p.P155P	HSPB7_ENST00000487046.1_Silent_p.P160P|HSPB7_ENST00000411503.1_Silent_p.P150P|HSPB7_ENST00000406363.2_Silent_p.P159P|HSPB7_ENST00000375718.4_Silent_p.P230P	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	155					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding	p.P155P(1)		breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTGTATGCGGGTGACGCC	0.652000													19	32					8.34094e-07	1.24993e-06	0.001216	1	0
KIF5C	3800	broad.mit.edu	37	2	149840154	149840154	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:149840154G>T	ENST00000435030.1	+	15	1958	c.1590G>T	c.(1588-1590)caG>caT	p.Q530H	KIF5C_ENST00000414838.2_Missense_Mutation_p.Q435H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q298H|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	530					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q530H(1)|p.Q433H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAACCACACAGAGAGAGCTGA	0.413000													9	50					7.48243e-07	1.13777e-06	0.006214	1	0
PCOLCE2	26577	broad.mit.edu	37	3	142567310	142567310	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:142567310G>T	ENST00000295992.3	-	3	503	c.197C>A	c.(196-198)cCc>cAc	p.P66H	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P66H	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	66	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity	p.P66H(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TTTTCCTTCGGGAACCTGCCA	0.413000													21	63					8.04996e-18	1.80166e-17	0.001882	1	0
HCFC1	3054	broad.mit.edu	37	X	153219071	153219071	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:153219071C>A	ENST00000310441.7	-	18	5450	c.4484G>T	c.(4483-4485)gGc>gTc	p.G1495V	HCFC1_ENST00000369984.4_Missense_Mutation_p.G1495V|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1426V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1495					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.G1495V(1)|p.G1398V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGAGGGGCCCGGGACCGG	0.652000													13	62					0.00185496	0.0023621	0.001855	1	0
EYA2	2139	broad.mit.edu	37	20	45633640	45633640	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:45633640C>A	ENST00000327619.5	+	4	589	c.215C>A	c.(214-216)aCg>aAg	p.T72K	EYA2_ENST00000317304.6_Missense_Mutation_p.T72K|EYA2_ENST00000357410.3_Missense_Mutation_p.T72K	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	72					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.T72K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TACGGCCAGACGCAGTACAGT	0.562000													31	137					3.57733e-08	5.87136e-08	0.001786	1	0
OMG	4974	broad.mit.edu	37	17	29622582	29622582	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:29622582G>T	ENST00000247271.4	-	2	1029	c.768C>A	c.(766-768)acC>acA	p.T256T	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	256					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)|p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		ATGATATTTGGGTAGAACATG	0.398000													15	112					3.27435e-08	5.40844e-08	0.002450	1	0
MEOX1	4222	broad.mit.edu	37	17	41738726	41738726	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:41738726G>T	ENST00000318579.4	-	1	596	c.177C>A	c.(175-177)taC>taA	p.Y59*	MEOX1_ENST00000549132.1_Missense_Mutation_p.T30N|MEOX1_ENST00000329168.3_Nonsense_Mutation_p.Y59*|MEOX1_ENST00000393661.2_5'UTR	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	59						nucleus	sequence-specific DNA binding	p.Y59*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		AGAAGTCAGGGTACGCTGCCG	0.647000													11	72					3.86212e-05	5.36752e-05	0.000673	1	0
GPR64	10149	broad.mit.edu	37	X	19027777	19027777	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:19027777A>T	ENST00000354791.3	-	17	1582	c.1341T>A	c.(1339-1341)acT>acA	p.T447T	GPR64_ENST00000379873.2_Silent_p.T463T|GPR64_ENST00000356606.4_Silent_p.T449T|GPR64_ENST00000379869.3_Silent_p.T463T|GPR64_ENST00000340581.3_Silent_p.T433T|GPR64_ENST00000379876.1_Silent_p.T439T|GPR64_ENST00000357544.3_Silent_p.T433T|GPR64_ENST00000379878.3_Silent_p.T447T|GPR64_ENST00000357991.3_Silent_p.T460T|GPR64_ENST00000360279.4_Silent_p.T441T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	463					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.T460T(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCACAAAGGTAGTTGTGTTGA	0.423000													16	104					0	0	0.006122	0	0
NAV3	89795	broad.mit.edu	37	12	78444565	78444565	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:78444565C>A	ENST00000397909.2	+	11	2327	c.2154C>A	c.(2152-2154)gaC>gaA	p.D718E	NAV3_ENST00000536525.2_Missense_Mutation_p.D718E|NAV3_ENST00000266692.7_Missense_Mutation_p.D718E|NAV3_ENST00000228327.6_Missense_Mutation_p.D718E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	718						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.D718E(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACATTTGACAGCACTGTGA	0.473000										HNSCC(70;0.22)			16	82					2.4624e-09	4.22943e-09	0.001216	1	0
TMTC1	83857	broad.mit.edu	37	12	29669312	29669312	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:29669312G>T	ENST00000256062.5	-	15	2426	c.1953C>A	c.(1951-1953)gcC>gcA	p.A651A	TMTC1_ENST00000551659.1_Silent_p.A821A|TMTC1_ENST00000552618.1_Silent_p.A783A|TMTC1_ENST00000539277.1_Silent_p.A759A|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	759						integral to membrane	binding	p.A651A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGCTATAGATGGCTGACAAGA	0.448000													27	119					2.44723e-14	5.00086e-14	0.004656	1	0
ZNF728	388523	broad.mit.edu	37	19	23159803	23159803	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:23159803C>A	ENST00000594710.1	-	4	481	c.336G>T	c.(334-336)caG>caT	p.Q112H		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		CAATTTTTAACTGTAAATTCT	0.358000													19	46					5.3912e-06	7.85142e-06	0.006122	1	0
SPATA6L	55064	broad.mit.edu	37	9	4625413	4625413	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:4625413A>C	ENST00000454239.2	-	7	828	c.583T>G	c.(583-585)Ttc>Gtc	p.F195V	SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F72V|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F137V|SPATA6L_ENST00000381890.5_Missense_Mutation_p.F209V			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	137								p.F195V(1)									TCCTGGAAGAAATGCCTGGTA	0.433000													19	71					0	0	0.007413	0	0
NEFL	4747	broad.mit.edu	37	8	24811218	24811218	+	RNA	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:24811218G>A	ENST00000221169.5	-	0	1855							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	p.R421*(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TAGGCAGATCGGCCAAAGACC	0.572000													13	78					0	0	0.002450	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591074	56591074	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:56591074C>G	ENST00000338222.5	+	1	1049	c.768C>G	c.(766-768)agC>agG	p.S256R		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	256						cytoplasm|nucleus|plasma membrane	binding	p.S256R(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						TGGCTCTTAGCAATCTAGAAA	0.483000													14	71					0	0	0.002450	0	0
NXPE3	91775	broad.mit.edu	37	3	101520396	101520396	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:101520396G>T	ENST00000422132.1	+	2	608	c.411G>T	c.(409-411)aaG>aaT	p.K137N	NXPE3_ENST00000491511.1_Missense_Mutation_p.K137N|NXPE3_ENST00000273347.5_Missense_Mutation_p.K137N|NXPE3_ENST00000477909.1_Missense_Mutation_p.K137N					neurexophilin and PC-esterase domain family, member 3									p.K137N(1)									GAAAGCCCAAGAAGTATGGTG	0.512000													11	65					3.86212e-05	5.36752e-05	0.000673	1	0
KIAA2026	158358	broad.mit.edu	37	9	5920648	5920648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:5920648C>A	ENST00000399933.3	-	8	5347	c.5348G>T	c.(5347-5349)cGg>cTg	p.R1783L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R1753L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1783								p.R1783L(1)|p.R958L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GAGTGAAGTCCGAGATTGTCT	0.418000													116	487					3.35115e-56	8.49286e-56	0.003610	1	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	76					0	0	0.006214	0	0
BIRC2	329	broad.mit.edu	37	11	102239138	102239138	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:102239138G>T	ENST00000227758.2	+	6	2624	c.1225G>T	c.(1225-1227)Gtg>Ttg	p.V409L	BIRC2_ENST00000530675.1_Missense_Mutation_p.V360L|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.V388L	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	409					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	p.V409L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAGAGACCTGGTGAAACAAAC	0.363000													17	103					4.14922e-12	8.00427e-12	0.004007	1	0
EVL	51466	broad.mit.edu	37	14	100604129	100604129	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:100604129C>G	ENST00000544450.2	+	11	1379	c.1096C>G	c.(1096-1098)Cct>Gct	p.P366A	EVL_ENST00000402714.2_Missense_Mutation_p.P360A|EVL_ENST00000392920.3_Missense_Mutation_p.P362A			Q9UI08	EVL_HUMAN	Enah/Vasp-like	360	EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	p.P362A(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TCAGTCGCAGCCTCACTCTAG	0.607000													16	91					0	0	0.004007	0	0
OR2M7	391196	broad.mit.edu	37	1	248487446	248487446	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:248487446C>A	ENST00000317965.2	-	1	453	c.425G>T	c.(424-426)gGa>gTa	p.G142V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G142V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGTCATAAGTCCACAAATTTT	0.478000													74	297					1.8615e-32	4.60476e-32	0.003610	1	0
CCL4	6351	broad.mit.edu	37	17	34432678	34432678	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:34432678G>T	ENST00000250151.4	+	3	568	c.252G>T	c.(250-252)gaG>gaT	p.E84D	CCL4_ENST00000394495.1_Missense_Mutation_p.S46I	NM_002984.2	NP_002975.1	P13236	CCL4_HUMAN	chemokine (C-C motif) ligand 4	84					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity	p.E84D(1)		endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGTCCAGGAGTACGTGTATG	0.502000													17	122					1.56452e-12	3.04082e-12	0.007413	1	0
EWSR1	2130	broad.mit.edu	37	22	29664333	29664333	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:29664333C>T	ENST00000397938.2	+	1	327	c.8C>T	c.(7-9)tCc>tTc	p.S3F	EWSR1_ENST00000333395.6_Missense_Mutation_p.S3F|EWSR1_ENST00000332035.6_Missense_Mutation_p.S3F|EWSR1_ENST00000331029.7_Missense_Mutation_p.S3F|EWSR1_ENST00000414183.2_Missense_Mutation_p.S3F|EWSR1_ENST00000332050.6_Missense_Mutation_p.S3F|EWSR1_ENST00000406548.1_Missense_Mutation_p.S3F	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	3	EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	p.S3F(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAAATGGCGTCCACGGGTGAG	0.632000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								5	214					0	0	0.001168	0	0
CCDC173	129881	broad.mit.edu	37	2	170502572	170502572	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:170502572C>T	ENST00000447353.1	-	9	1543	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173									p.E474K(1)									GATTCAAGTTCAATTACCTCT	0.413000													9	397					0	0	0.004482	0	0
OR51E2	81285	broad.mit.edu	37	11	4703764	4703764	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:4703764G>A	ENST00000396950.3	-	2	417	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L60F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAGAAAGAGGTACATCGGA	0.507000													18	73					0	0	0.004990	0	0
AIFM1	9131	broad.mit.edu	37	X	129271088	129271088	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:129271088T>A	ENST00000287295.3	-	10	1270	c.1040A>T	c.(1039-1041)tAc>tTc	p.Y347F	AIFM1_ENST00000346424.2_Missense_Mutation_p.Y60F|AIFM1_ENST00000440263.1_5'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.Y8F|AIFM1_ENST00000319908.3_Missense_Mutation_p.Y343F|AIFM1_ENST00000535724.1_3'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	347	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	p.Y347F(1)|p.Y343F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GTTGCTGAGGTATTCGGGGAG	0.468000													32	150					0	0	0.004878	0	0
HAUS7	55559	broad.mit.edu	37	X	152720441	152720441	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:152720441G>T	ENST00000370212.3	-	9	1030	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H	TREX2_ENST00000370232.1_Intron|HAUS7_ENST00000370211.4_Intron|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370219.3_Intron|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_Intron|TREX2_ENST00000334497.2_Intron			Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	312					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.P344H(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						TTGAGCCAAGGGCAGAGTTGC	0.517000													21	101					1.28384e-07	2.06774e-07	0.001882	1	0
FSCB	84075	broad.mit.edu	37	14	44975985	44975985	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:44975985G>T	ENST00000340446.4	-	1	497	c.206C>A	c.(205-207)aCt>aAt	p.T69N		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	69						cilium		p.T69N(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGACTTACTAGTCATTTCCTG	0.423000													27	129					7.92952e-12	1.51275e-11	0.003954	1	0
APOL4	80832	broad.mit.edu	37	22	36587606	36587606	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:36587606G>C	ENST00000332987.1	-	7	983	c.561C>G	c.(559-561)atC>atG	p.I187M	APOL4_ENST00000352371.1_Missense_Mutation_p.I190M|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	191					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding	p.I190M(1)		lung(1)	1						TGTTCTCCACGATGCTGGAGG	0.547000													10	23					0	0	0.006214	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65847232	65847232	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:65847232A>T	ENST00000261875.5	+	3	304	c.138A>T	c.(136-138)ggA>ggT	p.G46G	PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000442729.2_Silent_p.G46G|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.G21G|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.G84G	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	46	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding	p.G46G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TAGCTCAAGGACATGGTGCCA	0.438000													27	198					0	0	0.005443	0	0
WNT5A	7474	broad.mit.edu	37	3	55504433	55504433	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:55504433C>A	ENST00000474267.1	-	6	1351	c.830G>T	c.(829-831)cGg>cTg	p.R277L	WNT5A_ENST00000264634.4_Missense_Mutation_p.R277L|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262L			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	277					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R370L(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		GCTGTTGAGCCGCATGGCCGC	0.612000													3	18					0.00024832	0.000330029	0.000248	1	0
NLGN4X	57502	broad.mit.edu	37	X	5821398	5821398	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:5821398C>A	ENST00000381095.3	-	5	1948	c.1321G>T	c.(1321-1323)Gtg>Ttg	p.V441L	NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	441					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.V441L(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGAGAGCCACCAGGGTTTTC	0.597000													16	57					6.49762e-13	1.28708e-12	0.006122	1	0
DLK1	8788	broad.mit.edu	37	14	101200835	101200835	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:101200835C>T	ENST00000341267.4	+	5	996	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	252					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.P252S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGCGCTGAGCCCCCAGCAGGT	0.677000													12	58					0	0	0.001855	0	0
KCNH2	3757	broad.mit.edu	37	7	150644045	150644045	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:150644045G>T	ENST00000392968.2	-	12	4082	c.2962C>A	c.(2962-2964)Ccg>Acg	p.P988T	KCNH2_ENST00000330883.4_Missense_Mutation_p.P744T|KCNH2_ENST00000262186.5_Missense_Mutation_p.P1084T			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1084					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.P1084T(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CCAGGCCCCGGGGTGGTCACA	0.662000													18	97					8.34094e-07	1.24993e-06	0.001216	1	0
NUP210	23225	broad.mit.edu	37	3	13417095	13417095	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:13417095T>A	ENST00000254508.5	-	11	1422	c.1340A>T	c.(1339-1341)gAg>gTg	p.E447V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	447					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.E447G(1)|p.E447V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AATTTCCACCTCCTGCTGGTT	0.527000													27	121					0	0	0.002096	0	0
BRPF3	27154	broad.mit.edu	37	6	36196766	36196766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:36196766G>T	ENST00000357641.6	+	12	3620	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	BRPF3_ENST00000534400.1_Missense_Mutation_p.R1090I|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.E789*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.E853*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.E789*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.E853*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1123	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	p.E1123*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GAAGCTGGGAGAGCAGAAACA	0.602000													27	63					2.79863e-10	5.04144e-10	0.004656	1	0
CSMD3	114788	broad.mit.edu	37	8	114186001	114186001	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:114186001G>T	ENST00000297405.5	-	4	903	c.659C>A	c.(658-660)gCc>gAc	p.A220D	CSMD3_ENST00000343508.3_Missense_Mutation_p.A180D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A220D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A220D|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	220	Sushi 1.					integral to membrane|plasma membrane		p.A220D(1)|p.A180D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGAATTGGCTATGCAGGT	0.428000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	99					1.10513e-12	2.18074e-12	0.002299	1	0
POM121L12	285877	broad.mit.edu	37	7	53103500	53103500	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:53103500C>A	ENST00000408890.4	+	1	152	c.136C>A	c.(136-138)Ccc>Acc	p.P46T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	46								p.P46T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACGCCATCTCCCCAGGGTCG	0.677000													10	39					1.08611e-07	1.75474e-07	0.000978	1	0
ACTG2	72	broad.mit.edu	37	2	74146648	74146648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:74146648C>A	ENST00000409624.1	+	10	1720	c.1077C>A	c.(1075-1077)agC>agA	p.S359R	ACTG2_ENST00000345517.3_Missense_Mutation_p.S359R|ACTG2_ENST00000409731.3_Missense_Mutation_p.S316R			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	359					muscle contraction	cytoskeleton|cytosol	ATP binding	p.S359R(1)		large_intestine(3)|lung(14)|skin(1)	18						TGTGGATCAGCAAGCCTGAGT	0.532000													27	80					8.24728e-16	1.75467e-15	0.004656	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092221	151092221	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:151092221C>A	ENST00000370340.3	+	3	352	c.85C>A	c.(85-87)Cag>Aag	p.Q29K	MAGEA4_ENST00000393920.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Q29K			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	29							protein binding	p.Q29K(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGGTGCACAGGCTCCTAC	0.612000													23	80					2.89027e-11	5.41402e-11	0.002299	1	0
FAM47A	158724	broad.mit.edu	37	X	34148514	34148514	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:34148514G>A	ENST00000346193.3	-	1	1933	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	628								p.L628L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAGTCAAACAGATTCCTGATG	0.443000													21	85					0	0	0.001216	0	0
STX2	2054	broad.mit.edu	37	12	131293251	131293251	+	Splice_Site	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:131293251T>A	ENST00000261653.6	-	5	447		c.e5-2		STX2_ENST00000392373.2_Splice_Site	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GTTCAATAGCTAGGAACAAAT	0.353000													51	226					0	0	0.003610	0	0
UVSSA	57654	broad.mit.edu	37	4	1343559	1343559	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:1343559G>T	ENST00000389851.4	+	3	793	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	UVSSA_ENST00000507531.1_Missense_Mutation_p.A116S|UVSSA_ENST00000511216.1_Missense_Mutation_p.A116S	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	116								p.A116S(1)									GACCACCCGGGCCGTGGAAGG	0.632000													9	46					9.70103e-10	1.70593e-09	0.000673	1	0
WSB1	26118	broad.mit.edu	37	17	25630509	25630509	+	Missense_Mutation	SNP	T	T	C	rs142114425		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:25630509T>C	ENST00000262394.2	+	3	642	c.326T>C	c.(325-327)aTa>aCa	p.I109T	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.I78T|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.I109T	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	109					intracellular signal transduction	intracellular	protein binding	p.I109T(1)		lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGTGGAGATATAGTCTGGAGT	0.383000													32	123					0	0	0.002445	0	0
ASB5	140458	broad.mit.edu	37	4	177142368	177142368	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:177142368G>A	ENST00000296525.3	-	5	721	c.608C>T	c.(607-609)aCt>aTt	p.T203I	ASB5_ENST00000512254.1_Missense_Mutation_p.T150I	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	203					intracellular signal transduction			p.T203I(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATAGAGAGGAGTTCCCAAATG	0.408000													20	65					0	0	0.001216	0	0
ZBTB33	10009	broad.mit.edu	37	X	119387450	119387450	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:119387450C>A	ENST00000326624.2	+	2	408	c.180C>A	c.(178-180)ctC>ctA	p.L60L	ZBTB33_ENST00000557385.1_Silent_p.L60L	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	60	BTB.|Interaction with NCOR1.|Self-association (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.L60L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCATCAGCTCTTCTCTGTTG	0.393000													53	303					4.88506e-25	1.18572e-24	0.003610	1	0
RAVER1	125950	broad.mit.edu	37	19	10444193	10444193	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:10444193C>T	ENST00000293677.6	-	1	123	c.42G>A	c.(40-42)ggG>ggA	p.G14G		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	0						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.G14G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TCTTGGGAAACCCGGCGCCTT	0.716000													3	22					0	0	0.004672	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	74					0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	3076867	3076867	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:3076867C>G	ENST00000520002.1	-	30	5140	c.4585G>C	c.(4585-4587)Gaa>Caa	p.E1529Q	CSMD1_ENST00000539096.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1529Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1529Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1529Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1529	CUB 9.					integral to membrane		p.E1528Q(1)|p.E1257Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCTATTCTTTCTGGGGCCTGA	0.498000													2	3					0	0	0.004672	0	0
TAF1A	9015	broad.mit.edu	37	1	222736579	222736579	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:222736579C>A	ENST00000350027.4	-	9	1174	c.1021G>T	c.(1021-1023)Gga>Tga	p.G341*	TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G341*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.G227*|TAF1A_ENST00000391882.1_Nonsense_Mutation_p.G227*	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	341					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	p.G341*(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TTAGTGCATCCGGCAAAATCT	0.333000													12	58					1.08611e-07	1.75474e-07	0.000978	1	0
YTHDC1	91746	broad.mit.edu	37	4	69195782	69195782	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:69195782C>A	ENST00000344157.4	-	9	1622	c.1287G>T	c.(1285-1287)gtG>gtT	p.V429V	YTHDC1_ENST00000579690.1_Silent_p.V429V|YTHDC1_ENST00000355665.3_Silent_p.V411V	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	429	YTH.							p.V429V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGCTGGAAGCACCCAGTGTA	0.353000													19	97					1.56452e-12	3.04082e-12	0.007413	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924235	45924235	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:45924235G>T	ENST00000395629.2	+	5	1217	c.887G>T	c.(886-888)cGg>cTg	p.R296L	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R306L			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	306					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R306L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACTGAGAGCCGGATGTCAGTC	0.667000													5	36					1.23904e-05	1.75985e-05	0.000602	1	0
BTBD8	284697	broad.mit.edu	37	1	92554451	92554451	+	Splice_Site	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:92554451C>T	ENST00000370382.3	+	2	613	c.347_splice	c.e2+1	p.Q116_splice	BTBD8_ENST00000540648.1_Splice_Site_p.Q116_splice|BTBD8_ENST00000342818.3_Splice_Site_p.Q116_splice			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	116	BTB 1.					nucleus		p.Q116*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		AACGTTTTTACAGTAAGTGCT	0.274000													7	49					0	0	0.001984	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220406195	220406195	+	Silent	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:220406195T>C	ENST00000358951.2	-	2	242	c.126A>G	c.(124-126)acA>acG	p.T42T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	42					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.T42T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTCCCAGTCTGTTGATTTAC	0.338000													13	94					0	0	0.001855	0	0
DNAH9	1770	broad.mit.edu	37	17	11592912	11592912	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:11592912T>A	ENST00000262442.3	+	20	3841	c.3773T>A	c.(3772-3774)cTg>cAg	p.L1258Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1258Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1258	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L1258Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCAAATGCTGGATGCCAGG	0.483000													42	83					0	0	0.002522	0	0
TNXB	7148	broad.mit.edu	37	6	32035686	32035686	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:32035686C>A	ENST00000375244.3	-	18	6497	c.6296G>T	c.(6295-6297)gGg>gTg	p.G2099V	TNXB_ENST00000375247.2_Missense_Mutation_p.G2099V			P22105	TENX_HUMAN	tenascin XB	2171	Fibronectin type-III 13.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2099V(1)|p.G2186V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGTTAGCTCCCCCAGGAGCGG	0.647000													45	87					6.21074e-16	1.33235e-15	0.002852	1	0
HYDIN	54768	broad.mit.edu	37	16	70977730	70977730	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:70977730C>T	ENST00000393567.2	-	42	6804	c.6654G>A	c.(6652-6654)ctG>ctA	p.L2218L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2218								p.L2217L(1)|p.L2169L(1)		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)				TCCGCTCTGCCAGGATCTGCA	0.627000													9	46					0	0	0.000673	0	0
USP29	57663	broad.mit.edu	37	19	57641649	57641649	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:57641649A>G	ENST00000254181.4	+	4	2060	c.1606A>G	c.(1606-1608)Agt>Ggt	p.S536G	USP29_ENST00000598197.1_Missense_Mutation_p.S536G	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	536					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAATCTTTAAGTTTATCTTC	0.423000													3	247					0	0	0.004672	0	0
UNC45B	146862	broad.mit.edu	37	17	33513323	33513323	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:33513323C>A	ENST00000268876.5	+	20	2638	c.2541C>A	c.(2539-2541)acC>acA	p.T847T	UNC45B_ENST00000591048.1_Silent_p.T766T|UNC45B_ENST00000433649.1_Silent_p.T845T|UNC45B_ENST00000378449.1_Silent_p.T766T|UNC45B_ENST00000394570.2_Silent_p.T845T	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	847					cell differentiation|muscle organ development	cytosol	binding	p.T847T(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCCAGACAACCCAGTGGTTGG	0.557000													14	68					7.93312e-07	1.19575e-06	0.002450	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531794	84531794	+	RNA	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:84531794T>A	ENST00000527857.1	+	0	1816					NR_026851.1																						ATCCCAGCCCTACTACCTAGT	0.502000													16	30					0	0	0.003163	0	0
PCNT	5116	broad.mit.edu	37	21	47783460	47783460	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:47783460G>A	ENST00000359568.5	+	14	2327	c.2220G>A	c.(2218-2220)ctG>ctA	p.L740L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	740	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.L740L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGACTGAGCTGATGAAACAGG	0.388000													39	137					0	0	0.004289	0	0
GPHB5	122876	broad.mit.edu	37	14	63784422	63784422	+	RNA	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:63784422G>T	ENST00000539258.1	-	0	198							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity	p.P48T(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGCAGCCTGGCTTCTTGGCC	0.597000													8	40					5.18039e-06	7.56571e-06	0.003080	1	0
ELOVL2	54898	broad.mit.edu	37	6	10995243	10995243	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:10995243G>T	ENST00000354666.3	-	5	585	c.502C>A	c.(502-504)Caa>Aaa	p.Q168K		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	168					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.Q168K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AACTTACTTTGTCCACAAGGT	0.383000													25	151					6.32553e-13	1.26266e-12	0.004656	1	0
SYN3	8224	broad.mit.edu	37	22	33260992	33260992	+	Splice_Site	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:33260992C>A	ENST00000358763.2	-	6	864		c.e6-1		SYN3_ENST00000332840.5_Splice_Site	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III						neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTGAGAGAACTAGGATAGAA	0.473000													25	150					6.12954e-19	1.3899e-18	0.004656	1	0
FAT4	79633	broad.mit.edu	37	4	126370833	126370833	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:126370833G>C	ENST00000394329.3	+	9	8675	c.8662G>C	c.(8662-8664)Ggc>Cgc	p.G2888R	FAT4_ENST00000335110.5_Missense_Mutation_p.G1186R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2888	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2888R(2)		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						TACTGAGATTGGCTCCAAAGT	0.353000													17	124					0	0	0.006122	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220782	118220782	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:118220782C>T	ENST00000402510.2	-	11	4410	c.4411G>A	c.(4411-4413)Gat>Aat	p.D1471N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1471								p.D1295N(1)|p.D1471N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTTCAACATCATCCTGATTG	0.438000													4	79					0	0	0.000248	0	0
RYR2	6262	broad.mit.edu	37	1	237656342	237656342	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:237656342G>T	ENST00000366574.2	+	19	2233	c.1916G>T	c.(1915-1917)gGa>gTa	p.G639V	RYR2_ENST00000542537.1_Missense_Mutation_p.G623V|RYR2_ENST00000360064.6_Missense_Mutation_p.G637V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	639	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G637V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCTACCAGGAAGAGACTTG	0.438000													8	31					0.00307968	0.0038929	0.003080	1	0
IL6R	3570	broad.mit.edu	37	1	154422457	154422457	+	Splice_Site	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:154422457G>A	ENST00000368485.3	+	8	1503		c.e8+1		IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Splice_Site	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor						acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	p.?(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCCTCCCAGGTAAGGACTGG	0.433000													4	83					0	0	0.000248	0	0
PC	5091	broad.mit.edu	37	11	66631269	66631269	+	Silent	SNP	C	C	A	rs148281644	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:66631269C>A	ENST00000393960.1	-	12	1625	c.1344G>T	c.(1342-1344)gcG>gcT	p.A448A	PC_ENST00000524491.1_Silent_p.A408A|PC_ENST00000393958.2_Silent_p.A448A|PC_ENST00000393955.2_Silent_p.A448A|PC_ENST00000355677.3_Silent_p.A448A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	448	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	p.A448A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCGGAACTCCGCAAGGGCCC	0.662000													31	177					1.88708e-17	4.18722e-17	0.001512	1	0
ACRC	93953	broad.mit.edu	37	X	70824043	70824043	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:70824043G>T	ENST00000373695.1	+	7	1453	c.916G>T	c.(916-918)Gac>Tac	p.D306Y	ACRC_ENST00000373696.3_Missense_Mutation_p.D306Y			Q96QF7	ACRC_HUMAN	acidic repeat containing	306	Asp/Ser-rich.					nucleus		p.D306Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAAGAG	0.512000													46	264					2.77807e-22	6.61872e-22	0.003214	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8221720	8221720	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:8221720A>T	ENST00000361926.3	+	10	1830	c.1720A>T	c.(1720-1722)Aca>Tca	p.T574S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T574S|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	574	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T574S(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTGCGCCAGACAGAAGAGGG	0.632000													15	141					0	0	0.004990	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812741	31812741	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:31812741C>G	ENST00000334067.3	+	1	145	c.96C>G	c.(94-96)agC>agG	p.S32R		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	32						intermediate filament		p.S32R(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TCTACCCCAGCAATGCCATCT	0.478000													18	96					0	0	0.004990	0	0
BLK	640	broad.mit.edu	37	8	11414294	11414294	+	Silent	SNP	C	C	T	rs139994406	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:11414294C>T	ENST00000259089.4	+	9	1492	c.900C>T	c.(898-900)taC>taT	p.Y300Y	BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617000													8	35					0	0	0.003080	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779380	135779380	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:135779380G>T	ENST00000375845.3	-	2	73	c.43C>A	c.(43-45)Ctt>Att	p.L15I	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L32I|MAP3K19_ENST00000375844.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392917.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392918.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L15I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.L15I(1)									CAAATGTCAAGCAATGACTCA	0.338000													10	63					1.08611e-07	1.75474e-07	0.000978	1	0
NLRP12	91662	broad.mit.edu	37	19	54310879	54310879	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:54310879G>C	ENST00000324134.6	-	4	2281	c.2113C>G	c.(2113-2115)Ctg>Gtg	p.L705V	NLRP12_ENST00000345770.5_Missense_Mutation_p.L706V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L705V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L705V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L706V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L705V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L706V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L705V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	705					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.L705V(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCCGCTGCCAGATGTTCACTG	0.562000													11	35					0	0	0.001855	0	0
OR4A47	403253	broad.mit.edu	37	11	48510784	48510784	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:48510784G>T	ENST00000446524.1	+	1	516	c.440G>T	c.(439-441)tGg>tTg	p.W147L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W147F(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTAGTGTCCTGGGTTGGAGGA	0.438000													22	98					1.96292e-10	3.56081e-10	0.001523	1	0
CPED1	79974	broad.mit.edu	37	7	120782149	120782149	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:120782149C>A	ENST00000310396.5	+	16	2476	c.2009C>A	c.(2008-2010)cCa>cAa	p.P670Q	CPED1_ENST00000423795.1_Missense_Mutation_p.P450Q|CPED1_ENST00000450913.2_Missense_Mutation_p.P670Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.P670Q(1)									GAAGACCGCCCAAGTCTGCCC	0.433000													31	156					4.15321e-07	6.5067e-07	0.001786	1	0
PEAK1	79834	broad.mit.edu	37	15	77471208	77471208	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:77471208C>A	ENST00000560626.2	-	4	3536	c.3061G>T	c.(3061-3063)Gag>Tag	p.E1021*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1021*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E1021*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1021					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E1021Q(2)|p.E1021*(2)									AATGCATTCTCTGCTCTACCC	0.468000													9	63					0.00448238	0.00562474	0.004482	1	0
TEX11	56159	broad.mit.edu	37	X	69902602	69902602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:69902602G>T	ENST00000395889.2	-	15	1278	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	TEX11_ENST00000374333.2_Missense_Mutation_p.L360M|TEX11_ENST00000374320.2_Missense_Mutation_p.L50M|TEX11_ENST00000344304.3_Missense_Mutation_p.L375M	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	375							protein binding	p.L360M(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TGGAGTATCAGAACTTTTCCA	0.358000													14	45					9.31168e-06	1.34099e-05	0.001855	1	0
PI4KA	5297	broad.mit.edu	37	22	21178643	21178643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:21178643C>A	ENST00000255882.6	-	4	513	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	PI4KA_ENST00000572273.1_Missense_Mutation_p.A85S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	85					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.A85S(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCCCTATAGGCCACATCAGAC	0.433000													6	59					0.00307968	0.0038929	0.003080	1	0
ARSF	416	broad.mit.edu	37	X	3002590	3002590	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:3002590C>A	ENST00000381127.1	+	6	934	c.713C>A	c.(712-714)aCg>aAg	p.T238K	ARSF_ENST00000359361.2_Missense_Mutation_p.T238K|ARSF_ENST00000537104.1_Missense_Mutation_p.T238K	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	238						extracellular region	arylsulfatase activity|metal ion binding	p.T238K(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCAGCCACACGTCCCCTTTA	0.547000													14	129					3.41278e-10	6.12642e-10	0.004990	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031860	10031860	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:10031860G>A	ENST00000396573.2	-	4	1272	c.963C>T	c.(961-963)taC>taT	p.Y321Y	GRIN2A_ENST00000535259.1_Silent_p.Y164Y|GRIN2A_ENST00000396575.2_Silent_p.Y321Y|GRIN2A_ENST00000562109.1_Silent_p.Y321Y|GRIN2A_ENST00000330684.3_Silent_p.Y321Y|GRIN2A_ENST00000404927.2_Silent_p.Y321Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	321					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Y321Y(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATCTGCCCGTAGCAGCTGG	0.562000													8	50					0	0	0.003080	0	0
FRMD7	90167	broad.mit.edu	37	X	131212510	131212510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:131212510C>A	ENST00000298542.4	-	12	1710	c.1535G>T	c.(1534-1536)aGa>aTa	p.R512I	FRMD7_ENST00000370879.1_Missense_Mutation_p.R392I|FRMD7_ENST00000464296.1_Missense_Mutation_p.R497I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	512					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.R512I(1)		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)					TTCCTCTGCTCTAATTGGGGA	0.483000													58	239					2.14255e-21	5.05798e-21	0.003610	1	0
C5orf24	134553	broad.mit.edu	37	5	134190862	134190862	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:134190862G>T	ENST00000394976.3	+	2	500	c.272G>T	c.(271-273)gGc>gTc	p.G91V	C5orf24_ENST00000504727.1_Missense_Mutation_p.G91V|C5orf24_ENST00000338051.4_Missense_Mutation_p.G91V|C5orf24_ENST00000435259.2_Missense_Mutation_p.G91V	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	91								p.G91V(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGTAAGCGTGGCCGGCCTTCG	0.478000													17	80					8.28177e-16	1.75479e-15	0.007413	1	0
CCDC33	80125	broad.mit.edu	37	15	74573106	74573106	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:74573106C>T	ENST00000321288.5	+	11	1596	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	CCDC33_ENST00000398814.3_Silent_p.G329G			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	532							protein binding	p.G329G(1)|p.G532G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CAGGGAAAGGCTTGGACGGGC	0.642000													10	56					0	0	0.001855	0	0
FOCAD	54914	broad.mit.edu	37	9	20946798	20946798	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:20946798G>T	ENST00000380249.1	+	32	4018	c.3654G>T	c.(3652-3654)ctG>ctT	p.L1218L	FOCAD_ENST00000605086.1_Silent_p.L654L|FOCAD_ENST00000338382.6_Silent_p.L1218L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1218						integral to membrane	binding	p.L1218L(1)									AGCTTCGACTGTTAGTGGAGA	0.453000													21	90					8.10497e-08	1.32604e-07	0.001523	1	0
ADAM23	8745	broad.mit.edu	37	2	207460798	207460798	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:207460798C>A	ENST00000264377.3	+	24	2599	c.2271C>A	c.(2269-2271)tgC>tgA	p.C757*	ADAM23_ENST00000374416.1_Nonsense_Mutation_p.C757*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.C757*	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	757	EGF-like.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C757*(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AAGCCACCTGCATTTGTGATT	0.433000													8	49					3.09899e-07	4.88468e-07	0.004482	1	0
COL9A1	1297	broad.mit.edu	37	6	70970395	70970395	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:70970395C>A	ENST00000357250.6	-	20	1572	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	COL9A1_ENST00000370499.4_Missense_Mutation_p.G229C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G229C|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	472	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G472C(1)|p.G229C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCGGTGATGCCTCGCAAACCC	0.353000													5	22					0.000157383	0.000211894	0.003080	1	0
IL17B	27190	broad.mit.edu	37	5	148753957	148753957	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:148753957G>T	ENST00000261796.3	-	3	568	c.518C>A	c.(517-519)gCt>gAt	p.A173D	RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	173					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity	p.A173D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCCCACAGCGATGGTCTC	0.657000													11	36					1.36491e-13	2.77818e-13	0.001855	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419467	105419467	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:105419467T>C	ENST00000333244.5	-	7	2440	c.2321A>G	c.(2320-2322)aAg>aGg	p.K774R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	774						nucleus		p.K774R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGGGGCCCTTGAGGTCCAC	0.632000													46	275					0	0	0.003610	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694526	153694526	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:153694526C>A	ENST00000369682.3	+	15	2887	c.2712C>A	c.(2710-2712)ccC>ccA	p.P904P		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	904	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.P904P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTGGTGCCCAGCCCGCCGC	0.682000													14	77					1.37285e-15	2.87354e-15	0.004007	1	0
RANBP2	5903	broad.mit.edu	37	2	109383771	109383771	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:109383771G>T	ENST00000283195.6	+	20	6902	c.6776G>T	c.(6775-6777)cGt>cTt	p.R2259L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2259					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	p.R2259L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AATCTTTTCCGTTTTGGTGAG	0.408000													80	507					4.21487e-37	1.0527e-36	0.003610	1	0
MOSPD2	158747	broad.mit.edu	37	X	14915215	14915215	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:14915215G>T	ENST00000380492.3	+	5	420	c.332G>T	c.(331-333)aGg>aTg	p.R111M	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.R111M	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	111	CRAL-TRIO.					integral to membrane	structural molecule activity	p.R111M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					GTCTGGATCAGGGTGAAGTAT	0.328000													15	97					1.05317e-09	1.83949e-09	0.002450	1	0
CSRNP2	81566	broad.mit.edu	37	12	51458343	51458343	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:51458343A>C	ENST00000228515.1	-	5	1115	c.818T>G	c.(817-819)aTt>aGt	p.I273S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	273					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.I273S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						CAGCTTCATAATGGTGTGGAG	0.592000													25	88					0	0	0.006320	0	0
MDN1	23195	broad.mit.edu	37	6	90428642	90428642	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:90428642A>T	ENST00000369393.3	-	42	6280	c.6165T>A	c.(6163-6165)tgT>tgA	p.C2055*	MDN1_ENST00000428876.1_Nonsense_Mutation_p.C2055*			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2055					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.C2055*(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCTGCACACACTTCATGA	0.577000													22	74					0	0	0.001882	0	0
TRIM2	23321	broad.mit.edu	37	4	154191528	154191528	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:154191528G>T	ENST00000338700.5	+	2	137	c.72G>T	c.(70-72)caG>caT	p.Q24H	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_5'UTR	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	0						cytoplasm	zinc ion binding	p.Q24H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CCCCATGTCAGTGGTCTAGGA	0.488000													17	121					3.51602e-12	6.80817e-12	0.001216	1	0
AP1B1	162	broad.mit.edu	37	22	29737726	29737726	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:29737726C>A	ENST00000357586.2	-	13	1746	c.1560G>T	c.(1558-1560)cgG>cgT	p.R520R	AP1B1_ENST00000317368.7_Silent_p.R520R|AP1B1_ENST00000402502.1_Silent_p.R520R|AP1B1_ENST00000415447.1_Silent_p.R520R|AP1B1_ENST00000405198.1_Silent_p.R520R|AP1B1_ENST00000432560.2_Silent_p.R520R|AP1B1_ENST00000356015.2_Silent_p.R520R	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	520					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	p.R520R(1)		endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGCCACGGTCCCGCAGGTCTG	0.597000													8	47					0.000157383	0.000211894	0.003080	1	0
OR1F1	4992	broad.mit.edu	37	16	3255074	3255074	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:3255074G>T	ENST00000304646.2	+	1	828	c.828G>T	c.(826-828)gtG>gtT	p.V276V	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V276V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TGGCTACTGTGTTGTATACAG	0.478000													27	167					1.75199e-13	3.53819e-13	0.007291	1	0
EYA1	2138	broad.mit.edu	37	8	72246386	72246386	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:72246386T>A	ENST00000340726.3	-	4	787	c.148A>T	c.(148-150)Agt>Tgt	p.S50C	EYA1_ENST00000419131.1_Missense_Mutation_p.S50C|EYA1_ENST00000303824.7_Missense_Mutation_p.S50C|EYA1_ENST00000388740.3_Missense_Mutation_p.S17C|EYA1_ENST00000388742.4_Missense_Mutation_p.S50C|EYA1_ENST00000388743.2_Missense_Mutation_p.S50C|EYA1_ENST00000388741.2_Missense_Mutation_p.S17C	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	50					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S50C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCTGTTTCACTGCTGCTCATT	0.328000													32	62					0	0	0.002836	0	0
LIPI	149998	broad.mit.edu	37	21	15561488	15561488	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:15561488A>T	ENST00000344577.2	-	2	387	c.362T>A	c.(361-363)tTg>tAg	p.L121*	LIPI_ENST00000536861.1_Nonsense_Mutation_p.L100*	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	100					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.L121*(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTCATTCAGCAAAATCCTTAC	0.373000													8	61					0	0	0.003080	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921572	130921572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:130921572C>A	ENST00000261655.4	-	10	2033	c.1870G>T	c.(1870-1872)Gcc>Tcc	p.A624S	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A532S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A532S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	624	Pro-rich.					cell junction|synapse		p.A624S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCTCCCAGGCCTCATCCATC	0.672000													5	30					0.000602214	0.000788215	0.000602	1	0
TEKT1	83659	broad.mit.edu	37	17	6703489	6703489	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:6703489G>A	ENST00000338694.2	-	8	1243	c.1114C>T	c.(1114-1116)Ctg>Ttg	p.L372L	TEKT1_ENST00000535086.1_Silent_p.L226L	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	372					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.L372L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCCTCCTGCAGGGCAAGCTGT	0.483000													13	105					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9061138	9061138	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:9061138T>C	ENST00000397910.4	-	3	26511	c.26308A>G	c.(26308-26310)Atc>Gtc	p.I8770V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8772	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I8770V(2)|p.I4403V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCTAGTGATGGTTTCCGTG	0.493000													26	96					0	0	0.006320	0	0
SERPINB5	5268	broad.mit.edu	37	18	61166417	61166417	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:61166417G>A	ENST00000382771.4	+	6	924	c.632G>A	c.(631-633)aGt>aAt	p.S211N	SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	211					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	p.S211N(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACATTGACAGTATCAATTGT	0.423000													9	60					0	0	0.006214	0	0
OR4M1	441670	broad.mit.edu	37	14	20248962	20248962	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:20248962G>T	ENST00000315957.4	+	1	562	c.481G>T	c.(481-483)Gct>Tct	p.A161S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A161S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATACAGGTGGCTCTCATTGT	0.512000													31	244					8.16721e-17	1.77414e-16	0.002096	1	0
ZNF800	168850	broad.mit.edu	37	7	127014765	127014765	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:127014765C>A	ENST00000393313.1	-	5	1216	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E209*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E209*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E209*(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGAGGTTGTTCATCAGATGTA	0.418000													32	109					3.57733e-08	5.87136e-08	0.001786	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237292	30237292	+	Missense_Mutation	SNP	C	C	A	rs45513291		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:30237292C>A	ENST00000378988.4	+	2	696	c.595C>A	c.(595-597)Ccc>Acc	p.P199T		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	199	MAGE.						protein binding	p.P199T(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						CTGGGACTTTCCCAGGAGAAA	0.488000													10	33					2.17888e-05	3.06109e-05	0.006214	1	0
C1orf87	127795	broad.mit.edu	37	1	60505798	60505798	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:60505798G>A	ENST00000371201.3	-	5	645	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	180							calcium ion binding	p.L180L(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CTTCTGACCAGGGCAAGAAGA	0.433000													36	123					0	0	0.005524	0	0
ARMC5	79798	broad.mit.edu	37	16	31476036	31476036	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:31476036A>T	ENST00000457010.2	+	4	2393	c.1692A>T	c.(1690-1692)ccA>ccT	p.P564P	ARMC5_ENST00000268314.4_Silent_p.P564P|ARMC5_ENST00000412665.2_Silent_p.P208P|ARMC5_ENST00000408912.3_Silent_p.P659P|ARMC5_ENST00000563544.1_Silent_p.P564P|ARMC5_ENST00000538189.1_Silent_p.P596P	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	564							binding	p.P564P(1)|p.P659P(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGCCCAGCCCACGTGCACTGC	0.706000													3	14					0	0	0.004672	0	0
LINS	55180	broad.mit.edu	37	15	101114229	101114229	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:101114229C>A	ENST00000314742.8	-	5	1071	c.849G>T	c.(847-849)atG>atT	p.M283I	LINS_ENST00000560133.1_Missense_Mutation_p.M164I|LINS_ENST00000561308.1_Missense_Mutation_p.M283I|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	283								p.M283I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TAACTTCTAGCATGCAAGATG	0.413000													8	50					1.26484e-09	2.20177e-09	0.003080	1	0
PARP8	79668	broad.mit.edu	37	5	50124151	50124151	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:50124151C>T	ENST00000281631.5	+	21	2254	c.2096C>T	c.(2095-2097)tCa>tTa	p.S699L	PARP8_ENST00000503750.2_Missense_Mutation_p.S657L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S657L|PARP8_ENST00000514342.2_Missense_Mutation_p.S410L|PARP8_ENST00000505697.2_Missense_Mutation_p.S699L|PARP8_ENST00000505554.1_Missense_Mutation_p.S678L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	699	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity	p.S699L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTTAGTGGCTCACACATTGAA	0.378000													10	107					0	0	0.006214	0	0
XKRX	402415	broad.mit.edu	37	X	100178004	100178004	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:100178004C>A	ENST00000328526.5	-	2	986	c.421G>T	c.(421-423)Gag>Tag	p.E141*	XKRX_ENST00000372956.2_Nonsense_Mutation_p.E128*|XKRX_ENST00000468904.1_Intron	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	128						integral to membrane|plasma membrane		p.E141*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCCTCCTGCTCCTCTTTCTTC	0.512000													32	140					2.46105e-21	5.78347e-21	0.002096	1	0
AKAP12	9590	broad.mit.edu	37	6	151673210	151673210	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:151673210G>C	ENST00000402676.2	+	4	3924	c.3684G>C	c.(3682-3684)gtG>gtC	p.V1228V	AKAP12_ENST00000354675.6_Silent_p.V1130V|AKAP12_ENST00000253332.1_Silent_p.V1228V|AKAP12_ENST00000359755.5_Silent_p.V1123V	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1228					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.V1228V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CCAGTTTTGTGTTCCAGGAAG	0.473000													16	59					0	0	0.004990	0	0
LZTR1	8216	broad.mit.edu	37	22	21343151	21343151	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:21343151G>T	ENST00000215739.8	+	6	942	c.583G>T	c.(583-585)Ggc>Tgc	p.G195C	LZTR1_ENST00000389355.3_Missense_Mutation_p.G176C|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	195					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G195C(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637000													29	86					1.39806e-14	2.87966e-14	0.001512	1	0
DTX2	113878	broad.mit.edu	37	7	76112318	76112318	+	Silent	SNP	G	G	T	rs146537218	byFrequency	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:76112318G>T	ENST00000324432.5	+	5	1272	c.762G>T	c.(760-762)ggG>ggT	p.G254G	DTX2_ENST00000446820.2_Silent_p.G254G|DTX2_ENST00000413936.2_Silent_p.G254G|DTX2_ENST00000430490.2_Silent_p.G254G|DTX2_ENST00000446600.1_Silent_p.G163G|DTX2_ENST00000307569.8_Silent_p.G254G	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	254					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.G254G(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CACTCTCCGGGGCCCGGTCTG	0.677000													24	230					4.43304e-23	1.06106e-22	0.006320	1	0
CHI3L2	1117	broad.mit.edu	37	1	111773424	111773424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:111773424G>A	ENST00000445067.2	+	5	902	c.131G>A	c.(130-132)gGa>gAa	p.G44E	CHI3L2_ENST00000369744.2_Missense_Mutation_p.G34E|CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G44E			Q15782	CH3L2_HUMAN	chitinase 3-like 2	44					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.G44E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAGGAACCAGGAAAATTCACC	0.478000													13	52					0	0	0.001855	0	0
ZNF546	339327	broad.mit.edu	37	19	40520110	40520110	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:40520110T>A	ENST00000347077.4	+	7	1149	c.933T>A	c.(931-933)agT>agA	p.S311R	ZNF546_ENST00000600094.1_Missense_Mutation_p.S285R|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S311R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGCCTTTAGTCGTGTTAGAG	0.408000													18	109					0	0	0.006122	0	0
NCAPD3	23310	broad.mit.edu	37	11	134051057	134051057	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:134051057C>A	ENST00000534548.2	-	20	2538	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	825					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.G825V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GAGTACATCCCCACACACCTG	0.522000													16	37					2.32078e-09	4.01286e-09	0.003163	1	0
CCDC112	153733	broad.mit.edu	37	5	114607173	114607173	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:114607173C>A	ENST00000379611.5	-	7	1356	c.1069G>T	c.(1069-1071)Gca>Tca	p.A357S	CCDC112_ENST00000395557.4_Missense_Mutation_p.A274S|CCDC112_ENST00000506442.1_Missense_Mutation_p.A274S|CCDC112_ENST00000512261.1_Missense_Mutation_p.A274S	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	274								p.A357S(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		GCTTCAACTGCCAAtttctgt	0.333000													15	87					1.49906e-05	2.12332e-05	0.002450	1	0
MBOAT1	154141	broad.mit.edu	37	6	20152873	20152873	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:20152873A>T	ENST00000324607.7	-	2	391	c.227T>A	c.(226-228)gTc>gAc	p.V76D	MBOAT1_ENST00000536798.1_Missense_Mutation_p.V76D|MBOAT1_ENST00000541730.1_5'UTR	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	76					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.V76D(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ACAAAAGATGACAAAATAGAT	0.438000													5	8					0	0	0.001168	0	0
HAUS3	79441	broad.mit.edu	37	4	2238091	2238091	+	Missense_Mutation	SNP	T	T	C	rs150101454		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:2238091T>C	ENST00000243706.4	-	4	1671	c.1442A>G	c.(1441-1443)aAt>aGt	p.N481S	HAUS3_ENST00000506763.1_Intron|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.N481S	NM_024511.5	NP_078787.2	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	481					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.N481S(1)		breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TAAAGAAATATTCTGTTTCAA	0.368000													22	66					0	0	0.003330	0	0
EGFL6	25975	broad.mit.edu	37	X	13624574	13624574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:13624574C>A	ENST00000361306.1	+	6	854	c.597C>A	c.(595-597)taC>taA	p.Y199*	EGFL6_ENST00000380602.3_Nonsense_Mutation_p.Y199*	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	199	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.Y199*(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GAAGCTACTACTGCAAATGTC	0.413000													41	134					2.87052e-16	6.18358e-16	0.005524	1	0
CDH18	1016	broad.mit.edu	37	5	19520859	19520859	+	Silent	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:19520859T>A	ENST00000507958.1	-	12	2409	c.1419A>T	c.(1417-1419)acA>acT	p.T473T	CDH18_ENST00000502796.1_Silent_p.T473T|CDH18_ENST00000382275.1_Silent_p.T473T|CDH18_ENST00000506372.1_Silent_p.T473T|CDH18_ENST00000511273.1_Silent_p.T473T|CDH18_ENST00000274170.4_Silent_p.T473T			Q13634	CAD18_HUMAN	cadherin 18, type 2	473	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T473T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAATACCCACTGTGACATGGC	0.388000													48	93					0	0	0.003610	0	0
TENM4	26011	broad.mit.edu	37	11	78387379	78387379	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:78387379G>A	ENST00000278550.7	-	30	5776	c.5314C>T	c.(5314-5316)Ctg>Ttg	p.L1772L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.L1772L(2)									CCGTTGGCCAGCAGCAGCCGC	0.622000													3	61					0	0	0.004672	0	0
UBN1	29855	broad.mit.edu	37	16	4910738	4910738	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:4910738C>T	ENST00000396658.4	+	6	1448	c.745C>T	c.(745-747)Cta>Tta	p.L249L	UBN1_ENST00000262376.6_Silent_p.L249L|UBN1_ENST00000590769.1_Silent_p.L249L|UBN1_ENST00000545171.1_Silent_p.L249L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	249	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.L249L(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TAAAGAGATGCTAAAGAAATT	0.478000													38	171					0	0	0.003755	0	0
LCE2C	353140	broad.mit.edu	37	1	152648743	152648743	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:152648743C>A	ENST00000368783.1	+	2	307	c.252C>A	c.(250-252)cgC>cgA	p.R84R	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	84	Cys-rich.				keratinization			p.R84R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCACCGGCGCCGGCACCAGA	0.682000													28	95					7.41945e-09	1.24138e-08	0.005443	1	0
SCN4A	6329	broad.mit.edu	37	17	62018615	62018615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:62018615C>A	ENST00000578147.1	-	24	5103	c.5027G>T	c.(5026-5028)tGc>tTc	p.C1676F	SCN4A_ENST00000435607.1_Missense_Mutation_p.C1676F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1676					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.C1676F(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GATGTCCAGGCAGTGGATCTT	0.567000													23	89					1.85244e-09	3.2138e-09	0.003330	1	0
DHRS4	10901	broad.mit.edu	37	14	24435560	24435560	+	Silent	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:24435560G>C	ENST00000313250.5	+	6	803	c.600G>C	c.(598-600)ctG>ctC	p.L200L	DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Silent_p.L148L|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000558581.1_Silent_p.L166L|DHRS4_ENST00000559632.1_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	200						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.L200L(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CCATAGAGCTGGCCCCAAGGA	0.507000													14	180					0	0	0.003163	0	0
SLC28A1	9154	broad.mit.edu	37	15	85487830	85487830	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:85487830C>T	ENST00000394573.1	+	17	1899	c.1697C>T	c.(1696-1698)tCc>tTc	p.S566F	SLC28A1_ENST00000286749.3_Missense_Mutation_p.S566F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S566F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S400F|SLC28A1_ENST00000537216.1_Intron	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	566					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.S566F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGACTTCTCCCAGATAGTG	0.637000													3	35					0	0	0.004672	0	0
CTAG2	30848	broad.mit.edu	37	X	153880408	153880408	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:153880408G>A	ENST00000369585.3	-	3	590	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	CTAG2_ENST00000247306.4_3'UTR	NM_172377.3	NP_758965.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	0						centrosome		p.R180C(1)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTTAGCGCCTCTGCCCT	0.597000													12	61					0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10443964	10443964	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:10443964C>A	ENST00000245503.5	-	11	1339	c.955G>T	c.(955-957)Ggg>Tgg	p.G319W	MYH2_ENST00000397183.2_Missense_Mutation_p.G319W|MYH2_ENST00000532183.1_Missense_Mutation_p.G319W|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	319	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G319W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGATCTCCCCTTGACTGACA	0.383000													13	54					0.00400662	0.00505226	0.004007	1	0
ARMC3	219681	broad.mit.edu	37	10	23244787	23244787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:23244787C>A	ENST00000298032.5	+	4	302	c.218C>A	c.(217-219)aCt>aAt	p.T73N	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.T73N|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	73							binding	p.T73N(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAACCTTTAACTAAGCTACTC	0.348000													8	49					1.12685e-05	1.60934e-05	0.004482	1	0
ATXN3L	92552	broad.mit.edu	37	X	13337046	13337046	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:13337046G>T	ENST00000380622.2	-	1	1472	c.1008C>A	c.(1006-1008)gcC>gcA	p.A336A	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	336					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.A336A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGTCGACAGCGGCCTGTACTG	0.393000													63	210					2.23399e-28	5.47382e-28	0.003610	1	0
MMEL1	79258	broad.mit.edu	37	1	2524404	2524404	+	Splice_Site	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:2524404G>T	ENST00000288709.6	-	20	2082	c.1840_splice	c.e20-1	p.G614_splice	MMEL1_ENST00000502556.1_Splice_Site_p.G466_splice|MMEL1_ENST00000378412.3_Splice_Site_p.G623_splice	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	623					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	p.G614G(1)		cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGAAGTTCCGGCCTGGGCAGG	0.632000													9	66					0.00185496	0.0023621	0.001855	1	0
LATS2	26524	broad.mit.edu	37	13	21557438	21557438	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:21557438C>A	ENST00000382592.4	-	5	2812	c.2407G>T	c.(2407-2409)Ggt>Tgt	p.G803C	LATS2_ENST00000542899.1_Missense_Mutation_p.G803C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	803	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G803C(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTAATGTGACCATCCAGATCT	0.458000													13	58					1.61879e-10	2.96778e-10	0.001368	1	0
CR1	1378	broad.mit.edu	37	1	207739213	207739213	+	Silent	SNP	T	T	C	rs56229517		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:207739213T>C	ENST00000367049.4	+	24	3897	c.3897T>C	c.(3895-3897)taT>taC	p.Y1299Y	CR1_ENST00000367053.1_Silent_p.Y849Y|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.Y849Y|CR1_ENST00000400960.2_Silent_p.Y849Y	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	849	Sushi 20.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.Y854Y(1)|p.Y1299Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCTAGTTATTGTGTCTTGG	0.423000													13	166					0	0	0.001855	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126680	73126680	+	RNA	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:73126680T>C	ENST00000569990.2	+	0	433					NR_027756.1																						CCCTGCTATTTATGGGTTGCT	0.507000													2	5					0	0	0.004672	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604753	108604753	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:108604753G>T	ENST00000264047.2	+	2	418	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48Y	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	48					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527000													11	60					1.58986e-06	2.35519e-06	0.000673	1	0
SYT13	57586	broad.mit.edu	37	11	45275883	45275883	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:45275883T>C	ENST00000020926.3	-	3	593	c.482A>G	c.(481-483)aAa>aGa	p.K161R	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	161						transport vesicle		p.K161R(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTAGTGGAGTTTGGGGGCCTG	0.517000													15	42					0	0	0.003163	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687533	151687533	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:151687533T>C	ENST00000325144.4	-	3	808	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E223G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GGAAGATGCTTCCAGATTGGT	0.552000													16	78					0	0	0.004007	0	0
MYOF	26509	broad.mit.edu	37	10	95126285	95126285	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:95126285T>C	ENST00000371501.4	-	26	2739	c.2617A>G	c.(2617-2619)Aaa>Gaa	p.K873E	MYOF_ENST00000371502.4_Missense_Mutation_p.K873E|MYOF_ENST00000359263.4_Missense_Mutation_p.K873E|MYOF_ENST00000358334.5_Missense_Mutation_p.K860E			Q9NZM1	MYOF_HUMAN	myoferlin	873					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.K873E(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTACCCCATTTTCCAAACATG	0.348000													18	61					0	0	0.006122	0	0
GRIA4	2893	broad.mit.edu	37	11	105795225	105795225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:105795225T>C	ENST00000393127.2	+	12	2023	c.1577T>C	c.(1576-1578)aTc>aCc	p.I526T	GRIA4_ENST00000282499.5_Missense_Mutation_p.I526T|GRIA4_ENST00000525187.1_Missense_Mutation_p.I526T|GRIA4_ENST00000530497.1_Missense_Mutation_p.I526T	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	526					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TCTATCATGATCAAAAAGCCT	0.438000													4	229					0	0	0.000248	0	0
PDE6B	5158	broad.mit.edu	37	4	647771	647771	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:647771C>A	ENST00000255622.6	+	4	885	c.842C>A	c.(841-843)aCc>aAc	p.T281N	PDE6B_ENST00000496514.1_Missense_Mutation_p.T281N|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.T2N|RP11-1191J2.2_ENST00000489312.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	281	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T281N(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGGACATGACCAAGGAGAAG	0.652000													8	61					1.06961e-07	1.74445e-07	0.003080	1	0
SERPINB13	5275	broad.mit.edu	37	18	61259708	61259708	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:61259708C>T	ENST00000344731.5	+	4	454	c.352C>T	c.(352-354)Caa>Taa	p.Q118*	SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.Q118*	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	118					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CCTCTTCCTTCAAGTAAGTTT	0.423000													7	38					0	0	0.004482	0	0
LRRC37A	9884	broad.mit.edu	37	17	44408380	44408380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:44408380C>A	ENST00000320254.5	+	9	3740	c.3737C>A	c.(3736-3738)tCt>tAt	p.S1246Y	ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.S284Y|LRRC37A_ENST00000393465.3_Missense_Mutation_p.S1246Y|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1246						integral to membrane		p.S1246Y(1)		endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCAGCAGTCTCTGTGCTGAAA	0.557000													11	18					0.00074312	0.000967741	0.006122	1	0
CHST4	10164	broad.mit.edu	37	16	71570875	71570875	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:71570875C>A	ENST00000338482.5	+	3	638	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	CHST4_ENST00000539698.3_Silent_p.R99R|CHST4_ENST00000572450.1_Silent_p.R99R|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	99					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R99R(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGATCTGATACGGGCCGTCTT	0.592000													28	69					4.59853e-10	8.19807e-10	0.005443	1	0
TRPC5	7224	broad.mit.edu	37	X	111195529	111195529	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:111195529C>A	ENST00000262839.2	-	2	1038	c.120G>T	c.(118-120)gtG>gtT	p.V40V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	40					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.V40V(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCCCCTTCTCCACAGCATTGA	0.542000													19	77					2.4624e-09	4.22943e-09	0.001216	1	0
BIRC8	112401	broad.mit.edu	37	19	53793473	53793473	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:53793473T>A	ENST00000426466.1	-	1	1402	c.155A>T	c.(154-156)aAg>aTg	p.K52M		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	52					apoptosis		zinc ion binding	p.K52M(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGGATCTTCCTTGGGCTTCCA	0.428000													19	80					0	0	0.006122	0	0
MYO10	4651	broad.mit.edu	37	5	16672820	16672820	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:16672820C>A	ENST00000513610.1	-	37	5741	c.5287G>T	c.(5287-5289)Gat>Tat	p.D1763Y	MYO10_ENST00000505695.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000515803.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000274203.9_Missense_Mutation_p.D1120Y|MYO10_ENST00000427430.2_Missense_Mutation_p.D1120Y	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1763	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	p.D1763Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GCTAAGACATCAGCTACGACG	0.478000													21	63					1.2644e-06	1.8893e-06	0.001523	1	0
CLEC1A	51267	broad.mit.edu	37	12	10241744	10241744	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:10241744G>C	ENST00000315330.4	-	2	255	c.193C>G	c.(193-195)Ctg>Gtg	p.L65V	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	65					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.L65L(1)|p.L65V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGCTGCCAGCCCTATCAGC	0.552000													5	52					0	0	0.001168	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696930	50696930	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:50696930G>C	ENST00000008391.3	+	5	1016	c.788G>C	c.(787-789)cGc>cCc	p.R263P	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AATGGGGGCCGCTGCCTGAGA	0.418000													22	149					0	0	0.002299	0	0
CHEK1	1111	broad.mit.edu	37	11	125497573	125497573	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:125497573T>C	ENST00000534070.1	+	3	392	c.137T>C	c.(136-138)gTa>gCa	p.V46A	CHEK1_ENST00000278916.3_Missense_Mutation_p.V46A|CHEK1_ENST00000544373.1_Missense_Mutation_p.V46A|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.V46A|CHEK1_ENST00000428830.2_Missense_Mutation_p.V46A|CHEK1_ENST00000438015.1_Missense_Mutation_p.V46A	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	46	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.V46A(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AAGCGTGCCGTAGACTGTCCA	0.343000								Other conserved DNA damage response genes					3	89					0	0	0.004672	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801850	185801850	+	Missense_Mutation	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:185801850A>C	ENST00000302277.6	+	4	2321	c.1727A>C	c.(1726-1728)aAa>aCa	p.K576T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	576						intracellular	zinc ion binding	p.K576T(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTAGATGAAAAATACAACAAA	0.303000													3	80					0	0	0.004672	0	0
OR5L1	219437	broad.mit.edu	37	11	55579627	55579627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:55579627G>T	ENST00000333973.2	+	1	774	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G229C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CCTGAAGATGGGCTCTGCAGA	0.512000													30	117					3.1745e-13	6.3613e-13	0.001512	1	0
OR1A1	8383	broad.mit.edu	37	17	3119679	3119679	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:3119679G>T	ENST00000304094.1	+	1	765	c.765G>T	c.(763-765)atG>atT	p.M255I		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M255I(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACAGTCATGGGCACGTATT	0.488000													29	156					3.1745e-13	6.3613e-13	0.001512	1	0
FBN2	2201	broad.mit.edu	37	5	127666379	127666379	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:127666379C>G	ENST00000508053.1	-	39	5205	c.4231G>C	c.(4231-4233)Gaa>Caa	p.E1411Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1411Q|FBN2_ENST00000507835.1_Missense_Mutation_p.E261Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378Q			P35556	FBN2_HUMAN	fibrillin 2	1411	EGF-like 23; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1411Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTAGAACATTCGTCCAGATCT	0.428000													7	30					0	0	0.001984	0	0
SCG3	29106	broad.mit.edu	37	15	51991556	51991556	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:51991556G>C	ENST00000220478.3	+	9	1429	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	SCG3_ENST00000542355.2_Missense_Mutation_p.K110N	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	342					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.K342N(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CCAAAAACAAGCTAGAAAAAA	0.313000													12	128					0	0	0.002450	0	0
OPRK1	4986	broad.mit.edu	37	8	54142028	54142028	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:54142028G>T	ENST00000265572.3	-	4	1269	c.972C>A	c.(970-972)agC>agA	p.S324R	OPRK1_ENST00000524278.1_Missense_Mutation_p.S235R|OPRK1_ENST00000520287.1_Missense_Mutation_p.S324R|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	324					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	p.S324R(1)		NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TGGGATTCAGGCTACTGTTGG	0.512000													8	65					0.00307968	0.0038929	0.003080	1	0
PDPR	55066	broad.mit.edu	37	16	70190519	70190519	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:70190519G>T	ENST00000288050.4	+	19	3334	c.2377G>T	c.(2377-2379)Ggg>Tgg	p.G793W	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.G693W|PDPR_ENST00000542659.1_Missense_Mutation_p.G138W|PDPR_ENST00000568530.1_Missense_Mutation_p.G793W|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.G151W	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	793					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	p.G793W(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTACCGGAATGGGCAGTATGT	0.542000													51	267					7.91745e-34	1.96794e-33	0.003610	1	0
CEP44	80817	broad.mit.edu	37	4	175237375	175237375	+	Silent	SNP	A	A	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:175237375A>C	ENST00000503780.1	+	10	1434	c.1020A>C	c.(1018-1020)acA>acC	p.T340T	CEP44_ENST00000426172.1_Silent_p.T340T|CEP44_ENST00000296519.4_Silent_p.T340T|CEP44_ENST00000457424.2_Silent_p.T340T	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	340						centrosome|midbody|spindle pole		p.T340T(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						GCTATAGTACAGCATCATCAG	0.373000													29	150					0	0	0.002096	0	0
PLCB4	5332	broad.mit.edu	37	20	9374320	9374320	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:9374320A>T	ENST00000378501.2	+	15	1424	c.1409A>T	c.(1408-1410)gAa>gTa	p.E470V	PLCB4_ENST00000378493.1_Missense_Mutation_p.E470V|PLCB4_ENST00000278655.4_Missense_Mutation_p.E470V|PLCB4_ENST00000378473.3_Missense_Mutation_p.E470V|PLCB4_ENST00000334005.3_Missense_Mutation_p.E470V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E470V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	470					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.E470V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTGAAGTTGAAAAAAGTAAG	0.363000											OREG0025771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63					0	0	0.002780	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45448463	45448463	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:45448463G>A	ENST00000419266.2	+	3	325	c.285G>A	c.(283-285)ccG>ccA	p.P95P	APOC4-APOC2_ENST00000436871.1_Silent_p.P95P|APOC4_ENST00000592954.1_Silent_p.P95P|APOC4-APOC2_ENST00000589057.1_Intron														p.P95P(1)									ACCTGGGTCCGCTCACCAAGG	0.592000													6	298					0	0	0.001984	0	0
FSTL5	56884	broad.mit.edu	37	4	162380417	162380417	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:162380417G>A	ENST00000306100.5	-	14	2099	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q545*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	555						extracellular region	calcium ion binding	p.Q555*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ACCCAGACCTGATCATGTGAT	0.358000													13	70					0	0	0.002450	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898																											AATTCAAATCATTGATTTCTG	0.289000													3	6					0	0	0.000248	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140666	143140666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:143140666G>T	ENST00000332690.1	+	1	121	c.121G>T	c.(121-123)Gct>Tct	p.A41S	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	41					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.A41S(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CATCACTGCTGCTCTGGGCGT	0.493000													42	124					1.62957e-23	3.91855e-23	0.001951	1	0
SLC35G1	159371	broad.mit.edu	37	10	95661109	95661109	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:95661109G>T	ENST00000371408.3	+	3	1018	c.957G>T	c.(955-957)atG>atT	p.M319I	SLC35G1_ENST00000427197.1_Missense_Mutation_p.M320I			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	320	DUF6 2.					integral to membrane		p.M319I(1)									TGAAGACAATGGATGTGGTCT	0.403000													8	76					1.12685e-05	1.60934e-05	0.004482	1	0
TENM1	10178	broad.mit.edu	37	X	123839006	123839006	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:123839006G>A	ENST00000422452.2	-	5	935	c.872C>T	c.(871-873)cCt>cTt	p.P291L	TENM1_ENST00000371130.3_Missense_Mutation_p.P291L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P293L(1)									AGGCCTGGGAGGGGGCGAGTA	0.527000													38	218					0	0	0.007835	0	0
FANCB	2187	broad.mit.edu	37	X	14882911	14882911	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:14882911T>A	ENST00000398334.1	-	3	989	c.722A>T	c.(721-723)cAt>cTt	p.H241L	FANCB_ENST00000324138.3_Missense_Mutation_p.H241L	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	241					DNA repair	nucleoplasm		p.H241L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TGCACAAATATGTACATAAGT	0.338000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	94					0	0	0.007413	0	0
SMG8	55181	broad.mit.edu	37	17	57288024	57288024	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:57288024C>G	ENST00000543872.2	+	2	876	c.612C>G	c.(610-612)ttC>ttG	p.F204L	SMG8_ENST00000300917.5_Missense_Mutation_p.F204L|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.F204L			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	204					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	p.F204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTACCTATTCTCTGTCTGTC	0.498000													13	64					0	0	0.001855	0	0
NTF3	4908	broad.mit.edu	37	12	5603979	5603979	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:5603979C>A	ENST00000423158.3	+	2	850	c.638C>A	c.(637-639)cCg>cAg	p.P213Q	NTF3_ENST00000331010.6_Missense_Mutation_p.P200Q|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	200					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.P200Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GAAGCCAGGCCGGTCAAAAAC	0.483000													14	63					1.5739e-10	2.9165e-10	0.004007	1	0
MPPED1	758	broad.mit.edu	37	22	43821177	43821177	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:43821177C>A	ENST00000417669.1	+	2	630	c.186C>A	c.(184-186)aaC>aaA	p.N62K	MPPED1_ENST00000443721.1_Missense_Mutation_p.N62K|MPPED1_ENST00000538182.1_Missense_Mutation_p.N95K|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.N62K|MPPED1_ENST00000414469.2_Intron			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	62							hydrolase activity	p.N62K(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCTTCTACAACATCAACCAGG	0.662000													7	34					1.76689e-08	2.93725e-08	0.006214	1	0
RCAN3	11123	broad.mit.edu	37	1	24840900	24840900	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:24840900A>T	ENST00000374395.4	+	2	351	c.38A>T	c.(37-39)cAg>cTg	p.Q13L	RCAN3_ENST00000538532.1_Missense_Mutation_p.Q13L|RCAN3_ENST00000374393.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000412742.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q13L	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	13					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding	p.Q13L(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AATGATAGCCAGTCAGATCTG	0.428000													12	76					0	0	0.002450	0	0
RPL10L	140801	broad.mit.edu	37	14	47120853	47120853	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:47120853G>T	ENST00000298283.3	-	1	175	c.87C>A	c.(85-87)gcC>gcA	p.A29A		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	29					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.A29A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						TGCGGATCTTGGCATCAGGAA	0.527000													18	148					4.75885e-15	9.88082e-15	0.004990	1	0
GPR142	350383	broad.mit.edu	37	17	72368403	72368403	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:72368403G>T	ENST00000335666.4	+	4	1101	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	351						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R351R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						TGCAGCCCCGGGTGGGCAAGA	0.632000													14	43					2.61681e-11	4.91961e-11	0.002450	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113436	55113436	+	Splice_Site	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:55113436G>A	ENST00000370862.3	+	2	559		c.e2-1			NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2						feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.?(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTCAAATTAGTTTGTGTGGC	0.393000													18	95					0	0	0.007413	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762073	48762073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:48762073C>A	ENST00000445167.2	-	4	542	c.523G>T	c.(523-525)Gca>Tca	p.A175S	SLC35A2_ENST00000376515.3_Missense_Mutation_p.A151S|SLC35A2_ENST00000452555.2_Silent_p.P399P|SLC35A2_ENST00000413561.2_Silent_p.P310P|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A175S|SLC35A2_ENST00000247138.5_Silent_p.P371P|SLC35A2_ENST00000376521.1_Silent_p.P371P	NM_001032289.1	NP_001027460.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	0					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity	p.A175S(1)|p.P371P(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						AAGACAGCTGCGGTGGTGGTG	0.652000													10	35					3.07112e-06	4.49793e-06	0.000978	1	0
SF3B3	23450	broad.mit.edu	37	16	70599102	70599102	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:70599102C>T	ENST00000302516.5	+	19	2809	c.2598C>T	c.(2596-2598)atC>atT	p.I866I		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	866					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.I866I(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CCTCTGTGATCCGAGTGATGA	0.542000													26	71					0	0	0.003330	0	0
USP51	158880	broad.mit.edu	37	X	55513306	55513306	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:55513306G>A	ENST00000500968.3	-	2	2149	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	689					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.T689T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						AGTCCTCAATGGTAGCCTTGG	0.433000													16	81					0	0	0.003163	0	0
JPH2	57158	broad.mit.edu	37	20	42815287	42815287	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:42815287C>A	ENST00000372980.3	-	1	931	c.59G>T	c.(58-60)gGg>gTg	p.G20V	JPH2_ENST00000342272.3_Missense_Mutation_p.G20V	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	20	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G20L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCTTTCCCCCCTCCCAGCC	0.632000													13	32					4.3838e-07	6.7857e-07	0.001855	1	0
GUCY2F	2986	broad.mit.edu	37	X	108708604	108708604	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:108708604G>C	ENST00000218006.2	-	3	1090	c.799C>G	c.(799-801)Cat>Gat	p.H267D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	267					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.H267D(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTCAGATCATGAGCACATTCC	0.443000													32	177					0	0	0.003271	0	0
COL14A1	7373	broad.mit.edu	37	8	121381596	121381596	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:121381596G>T	ENST00000297848.3	+	47	5453	c.5183G>T	c.(5182-5184)aGc>aTc	p.S1728I	COL14A1_ENST00000309791.4_Missense_Mutation_p.S1728I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S1633I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1728	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.S1728I(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CGGCCTGGCAGCCCTGGGCCC	0.582000													16	95					2.23348e-06	3.28043e-06	0.004007	1	0
FAM193A	8603	broad.mit.edu	37	4	2661632	2661632	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:2661632A>T	ENST00000324666.5	+	8	1074	c.723A>T	c.(721-723)ccA>ccT	p.P241P	FAM193A_ENST00000505311.1_Silent_p.P241P|FAM193A_ENST00000502458.1_Silent_p.P265P|FAM193A_ENST00000382839.3_Silent_p.P241P|FAM193A_ENST00000545951.1_Silent_p.P241P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	241								p.P241P(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCTCCCACTTCAAGTGG	0.557000													21	87					0	0	0.001216	0	0
TFCP2	7024	broad.mit.edu	37	12	51495784	51495784	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:51495784C>G	ENST00000307660.4	-	10	1652	c.932G>C	c.(931-933)aGa>aCa	p.R311T	TFCP2_ENST00000257915.5_Missense_Mutation_p.R362T|TFCP2_ENST00000548115.1_Missense_Mutation_p.R311T|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	362	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R362T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CACATCATCTCTAGTTAATTT	0.323000													3	85					0	0	0.004672	0	0
PPL	5493	broad.mit.edu	37	16	4940293	4940293	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:4940293G>C	ENST00000345988.2	-	18	2294	c.2205C>G	c.(2203-2205)ttC>ttG	p.F735L	PPL_ENST00000590782.2_Missense_Mutation_p.F733L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	735					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.F735L(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGCCGCGGTGGAAGTGCTCGT	0.607000													6	50					0	0	0.001984	0	0
HOOK3	84376	broad.mit.edu	37	8	42823213	42823213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:42823213G>T	ENST00000307602.4	+	11	1178	c.978G>T	c.(976-978)aaG>aaT	p.K326N		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	326					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.K326N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATAAAAAGAAGCTAGAAGACC	0.338000			T	RET	papillary thyroid								28	57					2.65835e-16	5.75048e-16	0.007291	1	0
PCDH18	54510	broad.mit.edu	37	4	138453002	138453002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:138453002C>A	ENST00000344876.4	-	1	627	c.241G>T	c.(241-243)Gag>Tag	p.E81*	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E81*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	81	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E81*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATTATCCTCGTTTACTACA	0.428000													25	153					4.26978e-12	8.20623e-12	0.003330	1	0
ASB11	140456	broad.mit.edu	37	X	15306059	15306059	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:15306059G>T	ENST00000537676.1	-	6	800	c.728C>A	c.(727-729)gCg>gAg	p.A243E	ASB11_ENST00000380470.3_Missense_Mutation_p.A247E|ASB11_ENST00000344384.4_Missense_Mutation_p.A243E|ASB11_ENST00000480796.1_Missense_Mutation_p.A264E			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	264					intracellular signal transduction			p.A264E(2)|p.A243E(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CAGATCAAGCGCACTTTTGCC	0.542000													18	68					7.07596e-05	9.70364e-05	0.006122	1	0
DNAH10	196385	broad.mit.edu	37	12	124362333	124362333	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:124362333G>T	ENST00000409039.3	+	47	7921	c.7896G>T	c.(7894-7896)acG>acT	p.T2632T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2632	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1224T(1)|p.T2632T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATTCTGCACGCTAGCACTTT	0.453000													18	111					6.49762e-13	1.28708e-12	0.006122	1	0
CYYR1	116159	broad.mit.edu	37	21	27945291	27945291	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr21:27945291G>A	ENST00000435845.2	-	1	312	c.293C>T	c.(292-294)cCc>cTc	p.P98L	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	139						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TGGAGCGAAGGGAGAGCCCGG	0.642000													9	34					0	0	0.000978	0	0
ASTN1	460	broad.mit.edu	37	1	176915238	176915238	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:176915238C>A	ENST00000367654.2	-	13	2110	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K691N|ASTN1_ENST00000367657.3_Missense_Mutation_p.K691N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K691N			O14525	ASTN1_HUMAN	astrotactin 1	699	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane		p.K691N(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCACACCAAGCTTGTAGTCCT	0.517000													20	97					0.00121646	0.00156057	0.001216	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744069	140744069	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:140744069G>T	ENST00000518069.1	+	1	172	c.172G>T	c.(172-174)Gag>Tag	p.E58*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.E58*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCCCCAGGAGCTGGCGGA	0.647000													9	99					0.000978159	0.00126427	0.000978	1	0
KIF16B	55614	broad.mit.edu	37	20	16352333	16352333	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:16352333T>A	ENST00000354981.2	-	21	3581	c.3424A>T	c.(3424-3426)Agt>Tgt	p.S1142C	KIF16B_ENST00000378003.2_Missense_Mutation_p.S368C|KIF16B_ENST00000355755.3_Missense_Mutation_p.S1142C|KIF16B_ENST00000408042.1_Missense_Mutation_p.S1142C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1142					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.S1142C(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCAGATGTACTGCAGCCTTCA	0.388000													26	61					0	0	0.006320	0	0
KIF15	56992	broad.mit.edu	37	3	44867888	44867888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:44867888G>T	ENST00000326047.4	+	22	2871	c.2722G>T	c.(2722-2724)Gca>Tca	p.A908S	KIF15_ENST00000425755.1_Missense_Mutation_p.A543S	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	908					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	p.A908S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCTTCTTGAGGCAGAAAAAGA	0.318000													8	46					7.48243e-07	1.13777e-06	0.006214	1	0
NEB	4703	broad.mit.edu	37	2	152487674	152487674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:152487674C>A	ENST00000427231.2	-	66	9803	c.9601G>T	c.(9601-9603)Gct>Tct	p.A3201S	NEB_ENST00000397345.3_Missense_Mutation_p.A3201S|NEB_ENST00000604864.1_Missense_Mutation_p.A3201S|NEB_ENST00000603639.1_Missense_Mutation_p.A3201S|NEB_ENST00000409198.1_Missense_Mutation_p.A2958S|NEB_ENST00000172853.10_Intron	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3201					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A3201S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTTGAGAGCATTGTTCTTG	0.418000													51	280					6.3237e-29	1.55683e-28	0.003610	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72056983	72056983	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:72056983C>A	ENST00000378743.3	-	1	766	c.408G>T	c.(406-408)cgG>cgT	p.R136R	ZFC3H1_ENST00000552037.1_Silent_p.R136R|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.R136R|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	136					RNA processing	intracellular	metal ion binding	p.R136R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGTGGCTCCGCTCCCAGA	0.647000													12	86					0.00010058	0.000136482	0.001368	1	0
HS6ST2	90161	broad.mit.edu	37	X	131803196	131803196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:131803196C>A	ENST00000521489.1	-	5	1427	c.1012G>T	c.(1012-1014)Gca>Tca	p.A338S	HS6ST2-AS1_ENST00000455269.1_RNA|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A192S|HS6ST2_ENST00000406696.3_Intron|HS6ST2_ENST00000370836.2_Intron|HS6ST2_ENST00000370837.1_Intron	NM_001077188.1	NP_001070656.1	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	316						integral to membrane	sulfotransferase activity	p.A338S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					TTGGCGCCTGCGTTAGTGTTT	0.428000													9	64					0.00621372	0.00777843	0.006214	1	0
NAV2	89797	broad.mit.edu	37	11	19735466	19735466	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:19735466G>T	ENST00000396085.1	+	1	586	c.225G>T	c.(223-225)ccG>ccT	p.P75P	NAV2_ENST00000396087.3_Silent_p.P75P|NAV2_ENST00000349880.4_Silent_p.P75P|NAV2_ENST00000360655.4_Intron	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	75						nucleus	ATP binding|helicase activity	p.P75P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGGGCTCCCGCTGCGGAAGA	0.602000													10	48					2.74318e-10	4.95882e-10	0.006214	1	0
ORAI2	80228	broad.mit.edu	37	7	102079390	102079390	+	Splice_Site	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:102079390G>T	ENST00000356387.2	+	3	222		c.e3-1		ORAI2_ENST00000478730.1_Splice_Site|ORAI2_ENST00000473939.1_Splice_Site|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Splice_Site	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2							integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CCCACCCTTAGCCTGGCTCCC	0.582000													23	106					1.5548e-18	3.51018e-18	0.005443	1	0
POT1	25913	broad.mit.edu	37	7	124475445	124475445	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:124475445T>A	ENST00000357628.3	-	15	1991	c.1393A>T	c.(1393-1395)Aaa>Taa	p.K465*	POT1_ENST00000393329.1_Nonsense_Mutation_p.K334*	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	465					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.K465*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TTCGAGAGTTTGCAAATTTCA	0.363000													21	74					0	0	0.002299	0	0
GBA3	57733	broad.mit.edu	37	4	22729405	22729405	+	RNA	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:22729405C>A	ENST00000511446.1	+	0	61				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGCAGTATCAAAAAGTCCA	0.393000													52	212					1.81118e-26	4.41689e-26	0.003610	1	0
BCOR	54880	broad.mit.edu	37	X	39933627	39933627	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:39933627G>T	ENST00000342274.4	-	4	1334	c.972C>A	c.(970-972)ggC>ggA	p.G324G	BCOR_ENST00000378455.4_Silent_p.G324G|BCOR_ENST00000397354.3_Silent_p.G324G|BCOR_ENST00000378444.4_Silent_p.G324G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	324					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.L325M(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCCCCGGCAGGCCACTGGTGA	0.647000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	38					0.00116845	0.0015027	0.001168	1	0
TFAP2D	83741	broad.mit.edu	37	6	50696931	50696931	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:50696931C>A	ENST00000008391.3	+	5	1017	c.789C>A	c.(787-789)cgC>cgA	p.R263R	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	263							DNA binding|sequence-specific DNA binding transcription factor activity	p.R263P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGGGGGCCGCTGCCTGAGAG	0.413000													24	147					1.1804e-14	2.44106e-14	0.003954	1	0
CBX6	23466	broad.mit.edu	37	22	39262426	39262426	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:39262426C>A	ENST00000407418.3	-	5	1150	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	CBX6_ENST00000216083.6_Missense_Mutation_p.A325S			O95503	CBX6_HUMAN	chromobox homolog 6	343					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex		p.A343S(1)		large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GGCTCAGGGGCCGTGGGAGGT	0.716000													7	29					8.12818e-05	0.000111171	0.001984	1	0
CNOT3	4849	broad.mit.edu	37	19	54647235	54647235	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:54647235G>A	ENST00000406403.1	+	3	1754	c.151G>A	c.(151-153)Gag>Aag	p.E51K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E51K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	51					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E51K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTAAAGAAGGAGATTAAGAA	0.552000													18	77					0	0	0.007413	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051250	85051250	+	Silent	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:85051250C>T	ENST00000335459.5	-	5	1219	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.P387P	NM_001080824.1	NP_001074293.1			TraB domain containing 2A									p.P387P(1)|p.P338P(1)									CTTCTGGTGCCGGTACTTCCA	0.587000													7	27					0	0	0.004482	0	0
SNAI1	6615	broad.mit.edu	37	20	48600678	48600678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:48600678C>T	ENST00000244050.2	+	2	461	c.400C>T	c.(400-402)Caa>Taa	p.Q134*		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	134	Required for FBXL14-triggered degradation.				epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	p.Q134*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGGCTTGGGCCAAGTGCCCAA	0.607000													23	74					0	0	0.001882	0	0
WDR70	55100	broad.mit.edu	37	5	37703125	37703125	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:37703125G>A	ENST00000265107.4	+	13	1508	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	451										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGGCAGCGGCAAACTTGTT	0.413000													8	806					0	0	0.003080	0	0
PDK4	5166	broad.mit.edu	37	7	95216781	95216781	+	Silent	SNP	T	T	C	rs148379762		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr7:95216781T>C	ENST00000005178.5	-	9	1127	c.930A>G	c.(928-930)acA>acG	p.T310T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	310	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.T310T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAGTGGAGTATGTATAACTAA	0.393000													23	83					0	0	0.003330	0	0
EPHA8	2046	broad.mit.edu	37	1	22920043	22920043	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:22920043C>A	ENST00000166244.3	+	7	1539	c.1467C>A	c.(1465-1467)acC>acA	p.T489T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	489	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T489T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTACTCCACCCTCAAGGCCG	0.697000													7	23					2.7689e-08	4.5882e-08	0.001984	1	0
SMARCA1	6594	broad.mit.edu	37	X	128657272	128657272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:128657272C>A	ENST00000371122.4	-	1	205	c.76G>T	c.(76-78)Gac>Tac	p.D26Y	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D26Y|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D26Y	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	26					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.D26Y(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGCTGCTCGTCCTCTATGACC	0.697000													14	61					2.31682e-05	3.24606e-05	0.003163	1	0
GPR50	9248	broad.mit.edu	37	X	150349618	150349618	+	Silent	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:150349618C>A	ENST00000218316.3	+	2	1632	c.1563C>A	c.(1561-1563)ccC>ccA	p.P521P		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	521	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.P521P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTATCCCAAGCCTGCCA	0.612000													28	80					2.40579e-17	5.29274e-17	0.006230	1	0
GREB1	9687	broad.mit.edu	37	2	11732998	11732998	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:11732998C>T	ENST00000381486.2	+	11	1742	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V	GREB1_ENST00000234142.5_Missense_Mutation_p.A481V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	481						integral to membrane		p.A481V(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TACCAGCAGGCGCCGCCGCAG	0.731000													4	14					0	0	0.000602	0	0
ZNF133	7692	broad.mit.edu	37	20	18297153	18297153	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:18297153G>T	ENST00000377671.3	+	7	2214	c.1655G>T	c.(1654-1656)aGg>aTg	p.R552M	ZNF133_ENST00000401790.1_Missense_Mutation_p.R553M|ZNF133_ENST00000316358.4_Missense_Mutation_p.R553M|ZNF133_ENST00000402618.2_Missense_Mutation_p.R490M|ZNF133_ENST00000538547.1_Missense_Mutation_p.R458M|ZNF133_ENST00000535822.1_Missense_Mutation_p.R458M|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.R556M	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	553						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R552M(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TACATGTGCAGGCAGTGTGGA	0.582000													11	73					0.00010058	0.000136482	0.001368	1	0
SAGE1	55511	broad.mit.edu	37	X	134983834	134983834	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:134983834G>A	ENST00000535938.1	+	3	371	c.204G>A	c.(202-204)tgG>tgA	p.W68*	SAGE1_ENST00000537770.1_Nonsense_Mutation_p.W68*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.W68*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.W68*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	68								p.W68*(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCCTCGTGGTTAGACAAAC	0.428000													65	298					0	0	0.003610	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	72					0	0	0.001168	0	0
CACNA1D	776	broad.mit.edu	37	3	53752403	53752403	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:53752403G>T	ENST00000288139.3	+	10	1584	c.1466G>T	c.(1465-1467)tGt>tTt	p.C489F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.C489F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.C489F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	489					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C489F(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGGCTGCTGTGGAAGTCTC	0.597000													4	50					0.00024832	0.000330029	0.000248	1	0
LRP1B	53353	broad.mit.edu	37	2	141093256	141093256	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:141093256C>T	ENST00000389484.3	-	78	13015	c.12044G>A	c.(12043-12045)gGc>gAc	p.G4015D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4015					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G4015D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCAGTTGGGGCCATTCAGCTG	0.418000										TSP Lung(27;0.18)			51	149					0	0	0.003610	0	0
BRINP3	339479	broad.mit.edu	37	1	190068080	190068080	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:190068080G>C	ENST00000367462.3	-	8	1600	c.1369C>G	c.(1369-1371)Cgc>Ggc	p.R457G	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R355G	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		457						extracellular region		p.R457G(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CAGCGGGTGCGGTTGTCTGGT	0.622000													24	113					0	0	0.002299	0	0
BSN	8927	broad.mit.edu	37	3	49694474	49694474	+	Silent	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:49694474G>A	ENST00000296452.4	+	5	7599	c.7485G>A	c.(7483-7485)ttG>ttA	p.L2495L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2495					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.L2495L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGCTGAGTTGGCCCAGAATG	0.637000													8	32					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:7577548C>A	ENST00000420246.2	-	7	865	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	63					2.75727e-19	6.3356e-19	0.004878	1	0
SIRPA	140885	broad.mit.edu	37	20	1895886	1895886	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:1895886C>A	ENST00000358771.4	+	2	373	c.221C>A	c.(220-222)cCa>cAa	p.P74Q	SIRPA_ENST00000356025.3_Missense_Mutation_p.P74Q|SIRPA_ENST00000400068.3_Missense_Mutation_p.P74Q	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	74	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.P74Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGAGCTGGACCAGGCCGGGAA	0.537000													20	100					1.55795e-14	3.19626e-14	0.001882	1	0
SLC1A3	6507	broad.mit.edu	37	5	36608599	36608599	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:36608599G>A	ENST00000265113.4	+	2	550	c.74G>A	c.(73-75)cGc>cAc	p.R25H	SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R25H	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	25					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R25H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GTCCGTAAACGCACACTTTTG	0.463000													21	1560					0	0	0.006214	0	0
FAM83G	644815	broad.mit.edu	37	17	18907267	18907267	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:18907267C>T	ENST00000388995.6	-	2	311	c.88G>A	c.(88-90)Gag>Aag	p.E30K	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E30K|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E30K|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	30								p.E30K(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCCGCTGCTCCTCGCTGTAG	0.652000													18	46					0	0	0.004990	0	0
LRP6	4040	broad.mit.edu	37	12	12311984	12311984	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr12:12311984C>A	ENST00000261349.4	-	12	2646	c.2570G>T	c.(2569-2571)cGt>cTt	p.R857L	LRP6_ENST00000543091.1_Missense_Mutation_p.R857L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	857	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R857L(1)|p.R857H(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTGTTGGCACGCTCAATGCT	0.488000													14	72					1.3612e-06	2.02808e-06	0.003163	1	0
PRAMEF6	440561	broad.mit.edu	37	1	13001343	13001343	+	Missense_Mutation	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:13001343T>C	ENST00000376189.1	-	3	439	c.340A>G	c.(340-342)Atg>Gtg	p.M114V	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M114V|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	114								p.M114V(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCAAACCATCCAGAAGTTC	0.483000													39	561					0	0	0.003610	0	0
SOCS6	9306	broad.mit.edu	37	18	67992886	67992886	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:67992886G>T	ENST00000397942.3	+	2	1298	c.982G>T	c.(982-984)Gga>Tga	p.G328*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G328*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	328					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		p.G328*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GAACTTCAGTGGACTCACTGG	0.493000													12	53					6.40141e-05	8.80194e-05	0.000978	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553068	140553068	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:140553068G>T	ENST00000231137.3	+	1	826	c.652G>T	c.(652-654)Ggc>Tgc	p.G218C		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		218	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G218S(1)|p.G218C(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTAGACGGCGGCTCTCCTCC	0.537000													11	58					2.27111e-07	3.62396e-07	0.001368	1	0
AMER1	139285	broad.mit.edu	37	X	63410828	63410828	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:63410828C>A	ENST00000330258.3	-	2	2611	c.2339G>T	c.(2338-2340)gGg>gTg	p.G780V	AMER1_ENST00000403336.1_Missense_Mutation_p.G780V|AMER1_ENST00000374869.3_Missense_Mutation_p.G780V	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.G780V(2)									AAAGAGGTTCCCATTGCTGGT	0.512000													11	35					2.80697e-09	4.80532e-09	0.000978	1	0
IRS4	8471	broad.mit.edu	37	X	107977841	107977841	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:107977841A>T	ENST00000372129.2	-	1	1810	c.1734T>A	c.(1732-1734)gaT>gaA	p.D578E		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	578						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.D578E(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCCATGGCCATCTCCAGGTC	0.612000													61	277					0	0	0.003610	0	0
OBSL1	23363	broad.mit.edu	37	2	220422763	220422763	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr2:220422763A>G	ENST00000404537.1	-	11	3628	c.3572T>C	c.(3571-3573)gTg>gCg	p.V1191A	OBSL1_ENST00000265318.4_Missense_Mutation_p.V1099A|OBSL1_ENST00000603926.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000373876.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000265317.5_Missense_Mutation_p.V182A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1191	Ig-like 10.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.V1191A(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCTCAGCACCACTGGCTCCCC	0.647000													5	36					0	0	0.000602	0	0
JPH2	57158	broad.mit.edu	37	20	42815288	42815288	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr20:42815288C>A	ENST00000372980.3	-	1	930	c.58G>T	c.(58-60)Ggg>Tgg	p.G20W	JPH2_ENST00000342272.3_Missense_Mutation_p.G20W	NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	20	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.G20L(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCTTTCCCCCCTCCCAGCCC	0.627000													13	32					7.93312e-07	1.19575e-06	0.002450	1	0
FAM45A	404636	broad.mit.edu	37	10	120877099	120877099	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:120877099T>A	ENST00000361432.2	+	4	427	c.401T>A	c.(400-402)aTa>aAa	p.I134K	FAM45A_ENST00000535029.1_Missense_Mutation_p.I134K|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	134								p.I134K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ACAAAGGGGATATGCCAGAGT	0.433000													26	137					0	0	0.004656	0	0
LECT1	11061	broad.mit.edu	37	13	53286963	53286963	+	Silent	SNP	A	A	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr13:53286963A>T	ENST00000448904.2	-	5	620	c.510T>A	c.(508-510)ctT>ctA	p.L170L	LECT1_ENST00000377962.3_Silent_p.L170L	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	170	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		p.L170L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CCACCCAGATAAGAGAATTTT	0.398000													30	94					0	0	0.001512	0	0
SLC28A1	9154	broad.mit.edu	37	15	85448795	85448795	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:85448795G>T	ENST00000394573.1	+	8	831	c.629G>T	c.(628-630)gGa>gTa	p.G210V	SLC28A1_ENST00000286749.3_Missense_Mutation_p.G210V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G210V|SLC28A1_ENST00000537703.1_Missense_Mutation_p.G132V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G210V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.G210V	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	210					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.G210V(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGTCTTGGGGACTTGGACTG	0.582000													15	54					1.02788e-11	1.94658e-11	0.004990	1	0
PLCB2	5330	broad.mit.edu	37	15	40586546	40586546	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr15:40586546A>G	ENST00000260402.3	-	19	2231	c.1982T>C	c.(1981-1983)aTg>aCg	p.M661T	PLCB2_ENST00000557821.1_Missense_Mutation_p.M657T|PLCB2_ENST00000456256.2_Missense_Mutation_p.M661T	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	661	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.M657T(1)|p.M661T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CGGCCGGCGCATGAACTCATG	0.582000													15	56					0	0	0.002450	0	0
CYBB	1536	broad.mit.edu	37	X	37655268	37655268	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:37655268C>A	ENST00000378588.4	+	6	615	c.548C>A	c.(547-549)aCg>aAg	p.T183K	TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.T151K	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	183	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.T183K(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTGTCATCACGCTGTGCCTC	0.453000													13	71					9.31168e-06	1.34099e-05	0.001855	1	0
MYOF	26509	broad.mit.edu	37	10	95066741	95066741	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr10:95066741C>A	ENST00000371501.4	-	54	6287	c.6165G>T	c.(6163-6165)aaG>aaT	p.K2055N	MYOF_ENST00000371502.4_Missense_Mutation_p.K2045N|MYOF_ENST00000359263.4_Missense_Mutation_p.K2055N|MYOF_ENST00000358334.5_Missense_Mutation_p.K2042N			Q9NZM1	MYOF_HUMAN	myoferlin	2055					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.K2055N(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCTTTACAATCTTCATTGACA	0.348000													25	135					1.42536e-11	2.68945e-11	0.004656	1	0
CXorf56	63932	broad.mit.edu	37	X	118675326	118675326	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:118675326G>C	ENST00000320339.4	-	6	695	c.424C>G	c.(424-426)Cgc>Ggc	p.R142G	CXorf56_ENST00000536133.1_Missense_Mutation_p.R177G|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000486230.1_Missense_Mutation_p.R191G|CXorf56_ENST00000371594.4_Missense_Mutation_p.R191G|CXorf56_ENST00000476164.1_Missense_Mutation_p.R191G	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	191							protein binding	p.R191G(1)		cervix(1)|endometrium(2)|lung(7)	10						ATGCCTTTGCGCTCCAGCTGT	0.493000													57	216					0	0	0.003610	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520803	33520803	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:33520803G>T	ENST00000297307.5	-	1	609	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	175						integral to membrane		p.P175H(1)									CCAGAGTCCAGGTCCCACAAT	0.607000													51	218					2.81731e-22	6.68141e-22	0.003610	1	0
ZNF397	84307	broad.mit.edu	37	18	32822650	32822650	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr18:32822650G>C	ENST00000330501.7	+	2	369	c.216G>C	c.(214-216)caG>caC	p.Q72H	ZNF397_ENST00000355632.4_Missense_Mutation_p.Q72H|ZNF397_ENST00000261333.6_Missense_Mutation_p.Q72H|ZNF397_ENST00000585800.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000591206.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000592264.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000589420.1_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	72	SCAN box.				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q72H(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GCCGACTCCAGGAACTTTGCT	0.512000													13	71					0	0	0.001855	0	0
GPRC6A	222545	broad.mit.edu	37	6	117130516	117130516	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:117130516C>A	ENST00000310357.3	-	2	480	c.459G>T	c.(457-459)atG>atT	p.M153I	GPRC6A_ENST00000530250.1_Missense_Mutation_p.M153I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.M153I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	153					response to amino acid stimulus		G-protein coupled receptor activity	p.M153I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGGAGACAGCCATAGTTATTT	0.413000													18	122					6.44725e-10	1.14544e-09	0.002299	1	0
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	RNA	SNP	C	C	G	rs1996904	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508																											TGTCACGAATCTTGACAAATT	0.418000													3	111					0	0	0.000248	0	0
PODN	127435	broad.mit.edu	37	1	53542969	53542969	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:53542969G>T	ENST00000371500.3	+	8	1117	c.776G>T	c.(775-777)cGc>cTc	p.R259L	PODN_ENST00000312553.5_Missense_Mutation_p.R278L|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	230					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R278L(1)|p.R278H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACTTCCTGCGCCACGTGCCC	0.637000													27	147					8.24728e-16	1.75467e-15	0.004656	1	0
TRIML2	205860	broad.mit.edu	37	4	189012705	189012705	+	Missense_Mutation	SNP	C	C	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:189012705C>G	ENST00000512729.1	-	7	1360	c.986G>C	c.(985-987)gGg>gCg	p.G329A	TRIML2_ENST00000326754.3_Missense_Mutation_p.G354A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	329	B30.2/SPRY.						ligase activity	p.G329A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TGATATCTGCCCGTGTTCGCA	0.507000													38	176					0	0	0.006999	0	0
INADL	10207	broad.mit.edu	37	1	62626589	62626589	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:62626589G>T	ENST00000371158.2	+	43	5502	c.5388G>T	c.(5386-5388)ctG>ctT	p.L1796L		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1796					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1796L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGGAGCAGCTGCAGATGACGG	0.408000													16	66					1.67942e-08	2.80083e-08	0.006122	1	0
KIF2B	84643	broad.mit.edu	37	17	51901012	51901012	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:51901012G>T	ENST00000268919.4	+	1	774	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	206					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L206L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAGTCCTGGAGCCCCCGC	0.552000													10	64					1.58986e-06	2.35519e-06	0.000673	1	0
TSR2	90121	broad.mit.edu	37	X	54466893	54466893	+	Silent	SNP	G	G	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:54466893G>T	ENST00000375151.4	+	1	60	c.39G>T	c.(37-39)cgG>cgT	p.R13R		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	13					rRNA processing		protein binding	p.R13R(1)		breast(1)|endometrium(3)|lung(2)	6						CTCTTTTCCGGGCTGGGGTCT	0.697000													4	16					0.00024832	0.000330029	0.000248	1	0
PI16	221476	broad.mit.edu	37	6	36930861	36930861	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr6:36930861T>A	ENST00000373674.3	+	5	1071	c.743T>A	c.(742-744)gTc>gAc	p.V248D	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	248						extracellular region|integral to membrane	peptidase inhibitor activity	p.V248D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTAACAGAGGTCTCAGGCTCC	0.577000													22	131					0	0	0.002299	0	0
ADAM9	8754	broad.mit.edu	37	8	38948862	38948862	+	Silent	SNP	A	A	G			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr8:38948862A>G	ENST00000487273.2	+	20	2373	c.2295A>G	c.(2293-2295)gaA>gaG	p.E765E		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	765				Missing (in Ref. 2; no nucleotide entry).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.E765E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTCCCAGAGAAGTTGTAAGTA	0.348000													19	153					0	0	0.006122	0	0
FAM194A	131831	broad.mit.edu	37	3	150421307	150421307	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr3:150421307G>C	ENST00000295910.6	-	1	431	c.379C>G	c.(379-381)Ccc>Gcc	p.P127A	FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	127								p.P127A(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTGCTGGAGGGTGGGCTTGCG	0.667000													7	55					0	0	0.001984	0	0
ANO3	63982	broad.mit.edu	37	11	26664731	26664731	+	Silent	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:26664731T>C	ENST00000256737.3	+	23	3130	c.2278T>C	c.(2278-2280)Ttg>Ctg	p.L760L	ANO3_ENST00000537978.1_Silent_p.L744L|ANO3_ENST00000531568.1_Silent_p.L614L|ANO3_ENST00000525139.1_Silent_p.L744L	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	760						chloride channel complex	chloride channel activity	p.L760L(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTTTGCAGTTTTGCAATTTGG	0.343000													24	86					0	0	0.003954	0	0
XIST	7503	broad.mit.edu	37	X	73064562	73064562	+	RNA	SNP	T	T	C			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chrX:73064562T>C	ENST00000429829.1	-	0	8026					NR_001564.2																						GCCAGGAAAATGGGCCTTGGT	0.463000													18	98					0	0	0.007413	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	30					0	0	0.004672	0	0
KCNH5	27133	broad.mit.edu	37	14	63447817	63447817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:63447817T>A	ENST00000322893.7	-	6	983	c.715A>T	c.(715-717)Aaa>Taa	p.K239*	KCNH5_ENST00000420622.2_Nonsense_Mutation_p.K239*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.K181*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.K181*	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	239					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.K181*(1)|p.K239*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCTTTGTTTTGAAGGAAACA	0.368000													7	48					0	0	0.001984	0	0
JUN	3725	broad.mit.edu	37	1	59247873	59247873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:59247873delC	ENST00000371222.2	-	1	1912	c.870delG	c.(868-870)cafs	p.Q290fs		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	290	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GCTCCGAGTTCTGAGCTTTCA	0.542			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	173	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103355036	103355036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr1:103355036delC	ENST00000358392.2	-	59	4792	c.4475delG	c.(4474-4476)gafs	p.G1492fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1480fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1364fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1441fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1480	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGAGATCCTTGAGTTCC	0.458													19	98	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37049317	37049317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr5:37049317delT	ENST00000282516.8	+	40	7367	c.6868delT	c.(6868-6870)ttfs	p.F2291fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.F2291fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2291					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTTGAGGCATTTTTTCACAC	0.403													7	2137	---	---	---	---					
IFNA7	3444	broad.mit.edu	37	9	21202041	21202041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr9:21202041delC	ENST00000239347.3	-	1	163	c.124delG	c.(124-126)cafs	p.A42fs		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	42					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCCATTTGTGCCAGGAGTATC	0.512													49	223	---	---	---	---					
SWAP70	23075	broad.mit.edu	37	11	9759806	9759806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:9759806delG	ENST00000318950.6	+	8	1230	c.1127delG	c.(1126-1128)ccfs	p.R376fs	SWAP70_ENST00000447399.2_Frame_Shift_Del_p.R318fs	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	376						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAAAGAAACGCCTTCAGACT	0.478													16	76	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													8	108	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcc>gc	p.AH230del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	230	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621													7	82	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45639873	45639873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:45639873delG	ENST00000267430.5	+	12	2169	c.2084delG	c.(2083-2085)agfs	p.R695fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.R669fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	695					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATAGATTAAGGGACAGTGAT	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	66	---	---	---	---					
FRMD6	122786	broad.mit.edu	37	14	52178252	52178252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr14:52178252delA	ENST00000395718.2	+	8	979	c.694delA	c.(694-696)aafs	p.K232fs	FRMD6_ENST00000554167.1_Frame_Shift_Del_p.K163fs|FRMD6_ENST00000344768.5_Frame_Shift_Del_p.K240fs|FRMD6_ENST00000356218.4_Frame_Shift_Del_p.K232fs	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	240	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTACAGGATAAAAGGGAAAT	0.328													8	53	---	---	---	---					
ATP8B3	148229	broad.mit.edu	37	19	1796145	1796145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr19:1796145delC	ENST00000539485.1	-	17	2106	c.1873delG	c.(1873-1875)agfs	p.E626fs	ATP8B3_ENST00000310127.6_Frame_Shift_Del_p.E626fs|ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.E579fs			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	626					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCGTTCCTCCCCCAGCTCC	0.677											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63	---	---	---	---					
MGC20647	91370	broad.mit.edu	37	22	30642712	30642712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:30642712delA	ENST00000593843.1	+	2	528	c.528delA	c.(526-528)ggfs	p.G177fs	LIF_ENST00000249075.3_5'UTR|LIF_ENST00000403987.3_5'UTR																							AGGGCCTTGGAGGAAACCTCA	0.567													2	4	---	---	---	---					
FBLN1	2192	broad.mit.edu	37	22	45959084	45959085	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	7d906a56-6db5-4619-948c-30a21f5c40c9	g.chr22:45959084_45959085delCG	ENST00000402984.3	+	16	2207_2208	c.2104_2105delCG	c.(2104-2106)cfs	p.R702fs	FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Frame_Shift_Del_p.R664fs			P23142	FBLN1_HUMAN	fibulin 1	682					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGATCTCTCTCGCCACGGCACC	0.624													8	124	---	---	---	---					
JUN	3725	broad.mit.edu	37	1	59247873	59247873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:59247873delC	ENST00000371222.2	-	1	1912	c.870delG	c.(868-870)cafs	p.Q290fs		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	290	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GCTCCGAGTTCTGAGCTTTCA	0.542			A		sarcoma						OREG0013518	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	173	---	---	---	---					
COL11A1	1301	broad.mit.edu	37	1	103355036	103355036	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr1:103355036delC	ENST00000358392.2	-	59	4792	c.4475delG	c.(4474-4476)gafs	p.G1492fs	COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1364fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1441fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1480fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1480	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCTGGAGATCCTTGAGTTCC	0.458													19	98	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													6	11	---	---	---	---					
NIPBL	25836	broad.mit.edu	37	5	37049317	37049317	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr5:37049317delT	ENST00000282516.8	+	40	7367	c.6868delT	c.(6868-6870)ttfs	p.F2291fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.F2291fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2291					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTTGAGGCATTTTTTCACAC	0.403													7	2137	---	---	---	---					
DOCK8	81704	broad.mit.edu	37	9	405014	405015	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:405014_405015insT	ENST00000432829.2	+	27	3443_3444	c.3127_3128insT	c.(3127-3129)tttfs	p.F1043fs	DOCK8_ENST00000382331.1_Frame_Shift_Ins_p.F413fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.F1111fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.F1011fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.F578fs	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATCTGAACCTTTTTTTTATG	0.396													12	66	---	---	---	---					
IFNA7	3444	broad.mit.edu	37	9	21202041	21202041	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr9:21202041delC	ENST00000239347.3	-	1	163	c.124delG	c.(124-126)cafs	p.A42fs		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	42					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCCATTTGTGCCAGGAGTATC	0.512													49	223	---	---	---	---					
SWAP70	23075	broad.mit.edu	37	11	9759806	9759806	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr11:9759806delG	ENST00000318950.6	+	8	1230	c.1127delG	c.(1126-1128)ccfs	p.R376fs	SWAP70_ENST00000447399.2_Frame_Shift_Del_p.R318fs	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	376						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAAAGAAACGCCTTCAGACT	0.478													16	76	---	---	---	---					
FANCM	57697	broad.mit.edu	37	14	45639873	45639873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:45639873delG	ENST00000267430.5	+	12	2169	c.2084delG	c.(2083-2085)agfs	p.R695fs	FANCM_ENST00000542564.2_Frame_Shift_Del_p.R669fs	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	695					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATAGATTAAGGGACAGTGAT	0.294								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	66	---	---	---	---					
FRMD6	122786	broad.mit.edu	37	14	52178252	52178252	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr14:52178252delA	ENST00000395718.2	+	8	979	c.694delA	c.(694-696)aafs	p.K232fs	FRMD6_ENST00000356218.4_Frame_Shift_Del_p.K232fs|FRMD6_ENST00000554167.1_Frame_Shift_Del_p.K163fs|FRMD6_ENST00000344768.5_Frame_Shift_Del_p.K240fs	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	240	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTACAGGATAAAAGGGAAAT	0.328													8	53	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642													2	4	---	---	---	---					
ATP8B3	148229	broad.mit.edu	37	19	1796145	1796145	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr19:1796145delC	ENST00000539485.1	-	17	2106	c.1873delG	c.(1873-1875)agfs	p.E626fs	ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.E579fs|ATP8B3_ENST00000310127.6_Frame_Shift_Del_p.E626fs			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	626					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCGTTCCTCCCCCAGCTCC	0.677											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													3	4	---	---	---	---					
ISX-AS1	101926957	broad.mit.edu	37	22	35411562	35411563	+	RNA	DEL	AA	AA	-	rs72115028		TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:35411562_35411563delAA	ENST00000448318.4	-	0	836																											CCCAAGGTGGAAAAAAAAAAAA	0.510													2	4	---	---	---	---					
FBLN1	2192	broad.mit.edu	37	22	45959084	45959085	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-44-6774-01A-21D-1855-08	TCGA-44-6774-11A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9cc1d71-bece-4693-b953-3e73d1b6c11c	74800a92-e6e7-4db3-9f3b-da6036d63d4e	g.chr22:45959084_45959085delCG	ENST00000402984.3	+	16	2207_2208	c.2104_2105delCG	c.(2104-2106)cfs	p.R702fs	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Frame_Shift_Del_p.R664fs			P23142	FBLN1_HUMAN	fibulin 1	682					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGATCTCTCTCGCCACGGCACC	0.624													8	124	---	---	---	---					
