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
DDN	23109	broad.mit.edu	37	12	49391546	49391546	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:49391546C>G	ENST00000421952.2	-	2	1134	c.1113G>C	c.(1111-1113)tcG>tcC	p.S371S		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	371	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCCCTTCCCTCGAGCCCTTGA	0.627000													9	47					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874223	90874223	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:90874223C>G	ENST00000394980.1	+	9	3660	c.3341C>G	c.(3340-3342)cCt>cGt	p.P1114R	MMRN1_ENST00000508372.1_Missense_Mutation_p.P856R|MMRN1_ENST00000394981.1_Missense_Mutation_p.P417R|MMRN1_ENST00000264790.2_Missense_Mutation_p.P1114R			Q13201	MMRN1_HUMAN	multimerin 1	1114	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGACTATACCTGGTCCTATC	0.368000													13	116					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814764	43814764	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:43814764G>C	ENST00000382031.1	+	5	1838	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.E365Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.E365Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	365						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAAGGCAAAAGAGTCATCTGA	0.542000													3	24					0	0	1	0	0
NOL7	51406	broad.mit.edu	37	6	13615976	13615976	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr6:13615976G>C	ENST00000451315.2	+	2	331	c.299G>C	c.(298-300)cGa>cCa	p.R100P	NOL7_ENST00000474485.1_3'UTR|AL441883.1_ENST00000600057.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	100						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			AAGAGGAAGCGACGCGAGGAG	0.522000													5	94					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2048819	2048819	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr8:2048819C>T	ENST00000262113.4	+	20	2735	c.2594C>T	c.(2593-2595)aCg>aTg	p.T865M	MYOM2_ENST00000523438.1_Missense_Mutation_p.T290M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	865	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTAAATCAGACGACAACAGCC	0.532000													11	46					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71478241	71478241	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:71478241C>T	ENST00000304743.2	+	10	3199	c.2753C>T	c.(2752-2754)tCa>tTa	p.S918L	PCNX_ENST00000238570.5_Missense_Mutation_p.S918L|PCNX_ENST00000439984.3_Missense_Mutation_p.S812L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	918						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTTCTACCTCAGTTCGATTT	0.279000													6	55					0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89015892	89015892	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:89015892C>G	ENST00000325844.4	+	3	482	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V	MRPS11_ENST00000353598.6_Intron|MRPS11_ENST00000557974.1_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	73					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GGAGAGCTCTCTGAGGTGGGC	0.408000													4	45					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100953794	100953794	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:100953794C>T	ENST00000376285.1	+	13	1184	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	PCCA_ENST00000376279.3_Silent_p.L382L|PCCA_ENST00000376286.4_Silent_p.L356L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	382	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GCTACCCTCTCAGGCACAAAC	0.507000													28	149					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47343356	47343356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:47343356G>A	ENST00000426342.1	-	13	2337	c.1591C>T	c.(1591-1593)Caa>Taa	p.Q531*	MDGA2_ENST00000399232.2_Nonsense_Mutation_p.Q829*|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.2_Nonsense_Mutation_p.Q760*|MDGA2_ENST00000357362.3_Nonsense_Mutation_p.Q531*	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	760	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTATCATCTTGAGTGAACAAA	0.303000													10	89					0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148895584	148895584	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:148895584G>A	ENST00000262085.3	+	2	430	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ZNF282_ENST00000479907.1_Missense_Mutation_p.E109K	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	109					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TCAGGCTGTGGAGAGGAAGGT	0.627000													7	69					0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39832858	39832858	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:39832858G>C	ENST00000309060.3	-	4	1114	c.699C>G	c.(697-699)atC>atG	p.I233M	ZHX3_ENST00000540170.1_Missense_Mutation_p.I233M|ZHX3_ENST00000432768.2_Missense_Mutation_p.I233M|ZHX3_ENST00000560361.1_Missense_Mutation_p.I233M|ZHX3_ENST00000559234.1_Missense_Mutation_p.I233M|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.I233M			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	233					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGCCCCATTGATGAAGGAAT	0.562000													21	141					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38271907	38271907	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:38271907G>A	ENST00000311806.3	+	10	1309	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	OXSR1_ENST00000446845.1_Missense_Mutation_p.E313K	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	313					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AACCATTTCTGAAAGAGCAAA	0.284000													21	124					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47405418	47405418	+	Nonsense_Mutation	SNP	C	C	T	rs77043713		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:47405418C>T	ENST00000295454.3	+	6	920	c.628C>T	c.(628-630)Caa>Taa	p.Q210*	GABRB1_ENST00000538619.1_Nonsense_Mutation_p.Q140*	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	210					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGAACTTCCTCAATTTTCAAT	0.408000													11	95					0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117739263	117739263	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chrX:117739263C>G	ENST00000276204.6	+	24	2699	c.2625C>G	c.(2623-2625)ctC>ctG	p.L875L	DOCK11_ENST00000276202.7_Silent_p.L875L			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	875	DHR-1.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTATGCAACTCTTCCGAGTTC	0.343000													23	67					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86948048	86948048	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:86948048G>T	ENST00000234701.3	+	6	1069	c.718G>T	c.(718-720)Gca>Tca	p.A240S	CLCA1_ENST00000394711.1_Missense_Mutation_p.A240S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	240					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TATAATGTTTGCACAACATGT	0.423000													13	70					1.05317e-09	1.10731e-09	1	1	0
GDAP1L1	78997	broad.mit.edu	37	20	42891869	42891869	+	Splice_Site	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:42891869G>A	ENST00000342560.5	+	4	635		c.e4-1		GDAP1L1_ENST00000537864.1_Splice_Site	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1											endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TATCTCCCCAGGACATTTAGC	0.517000													43	425					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160273836	160273836	+	Splice_Site	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:160273836G>T	ENST00000264431.4	+	21	3801		c.e21-1			NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTCTCATGCAGGCTATACTTT	0.358000													12	69					0.00010058	0.000103336	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124268683	124268683	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:124268683G>A	ENST00000409039.3	+	8	1031	c.1006G>A	c.(1006-1008)Gac>Aac	p.D336N		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	336	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GGAGGCCTCAGACAATGTGCG	0.473000													12	116					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79617308	79617308	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:79617308C>T	ENST00000296739.4	+	1	1519	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAAATGAGGTCAGCTAGCAGC	0.373000													5	80					0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39408419	39408419	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:39408419C>G	ENST00000221431.6	-	12	1264	c.1105G>C	c.(1105-1107)Gag>Cag	p.E369Q	SARS2_ENST00000448145.2_Missense_Mutation_p.E369Q|SARS2_ENST00000430193.3_Missense_Mutation_p.E369Q|SARS2_ENST00000600042.1_Missense_Mutation_p.E371Q|SARS2_ENST00000598831.1_Missense_Mutation_p.E17Q|SARS2_ENST00000594171.1_Missense_Mutation_p.E179Q|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.G438A	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	369					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AGGAACTCCTCCAGCAGCTGT	0.622000													11	87					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38146393	38146393	+	Silent	SNP	G	G	A	rs143167995	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:38146393G>A	ENST00000264639.4	+	6	1098	c.924G>A	c.(922-924)acG>acA	p.T308T	PSMD3_ENST00000541736.1_Silent_p.T170T	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	308					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCCGGAGAACGATGACCAACG	0.547000													8	55					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137600206	137600206	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:137600206C>T	ENST00000274721.3	-	2	369	c.123G>A	c.(121-123)atG>atA	p.M41I	GFRA3_ENST00000378362.3_Missense_Mutation_p.M41I	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	41					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GACAGCTGTTCATGAGTCGGC	0.547000													5	59					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41939525	41939525	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:41939525T>A	ENST00000221943.9	-	4	355	c.350A>T	c.(349-351)gAg>gTg	p.E117V	ATP5SL_ENST00000595425.1_Missense_Mutation_p.E90V|ATP5SL_ENST00000592922.2_Missense_Mutation_p.E90V|ATP5SL_ENST00000589970.1_Missense_Mutation_p.E117V|ATP5SL_ENST00000301183.11_Missense_Mutation_p.E123V|ATP5SL_ENST00000417807.3_Missense_Mutation_p.E123V|ATP5SL_ENST00000590641.2_Missense_Mutation_p.E96V|ATP5SL_ENST00000597457.1_Missense_Mutation_p.E90V|ATP5SL_ENST00000438807.3_Missense_Mutation_p.E90V	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	117										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						ATTCCAGAACTCCTGAGAGAA	0.552000													23	212					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000978	14000978	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:14000978C>G	ENST00000454313.1	-	6	749	c.691G>C	c.(691-693)Ggt>Cgt	p.G231R	C19orf57_ENST00000346736.2_Missense_Mutation_p.G231R|C19orf57_ENST00000586783.1_Missense_Mutation_p.G231R|C19orf57_ENST00000591586.1_Intron			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	231					multicellular organismal development		protein binding	p.G231C(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TTTTGGCCACCGTCACCTGGA	0.622000													12	161					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197946417	197946417	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:197946417G>C	ENST00000328737.2	-	15	1491	c.1415C>G	c.(1414-1416)tCa>tGa	p.S472*	ANKRD44_ENST00000409153.1_Nonsense_Mutation_p.S497*|ANKRD44_ENST00000450567.1_Nonsense_Mutation_p.S472*|ANKRD44_ENST00000539527.1_Nonsense_Mutation_p.S425*|ANKRD44_ENST00000477852.1_5'UTR|ANKRD44_ENST00000282272.8_Nonsense_Mutation_p.S489*|ANKRD44_ENST00000337207.5_Nonsense_Mutation_p.S472*			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	497							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAGTTCTTCTGAATTATCATG	0.368000													27	194					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153839863	153839863	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:153839863C>T	ENST00000356448.4	+	2	366	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.Q28*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.Q28*	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	28					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TCAGCCCCACCAGGTTCTGGG	0.622000													4	18					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85547872	85547872	+	Splice_Site	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:85547872G>A	ENST00000393217.2	+	23	4781	c.4720_splice	c.e23+1	p.D1574_splice		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1574										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAAAAAAATAGGTGAGTAATT	0.259000													4	20					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130216818	130216818	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:130216818C>T	ENST00000323301.4	+	2	616	c.12C>T	c.(10-12)ttC>ttT	p.F4F	LRSAM1_ENST00000373324.4_Silent_p.F4F|LRSAM1_ENST00000300417.6_Silent_p.F4F|LRSAM1_ENST00000373322.1_Silent_p.F4F	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	4					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGCCGCTCTTCTTCCGGAAGC	0.557000													7	50					0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6570094	6570094	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:6570094G>C	ENST00000266556.7	+	6	1446	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	427					antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TGGGGCTTCAGAGACGGCAAG	0.622000													6	57					0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789730	124789730	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr11:124789730C>G	ENST00000408930.5	+	1	585	c.84C>G	c.(82-84)ccC>ccG	p.P28P	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	28						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TGCAAGGACCCTTGGAGGCAT	0.512000													18	97					0	0	1	0	0
DDX1	1653	broad.mit.edu	37	2	15767219	15767219	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:15767219C>G	ENST00000381341.2	+	21	2025	c.1636C>G	c.(1636-1638)Cat>Gat	p.H546D	DDX1_ENST00000233084.3_Missense_Mutation_p.H546D			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	546	Helicase C-terminal.|Necessary for interaction with HNRNPK.|Necessary for interaction with replicase polyprotein 1ab nsp14 of IBV.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TGTTTGTCTTCATGGTGACAG	0.358000													10	58					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769285	57769285	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:57769285G>A	ENST00000371030.2	+	1	3211	c.3211G>A	c.(3211-3213)Gac>Aac	p.D1071N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1071						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATGGAGGGTGACAGCCACCG	0.627000													8	47					0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140056864	140056864	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:140056864G>A	ENST00000371561.3	+	13	2857	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	GRIN1_ENST00000371550.4_Missense_Mutation_p.G587D|GRIN1_ENST00000350902.5_Missense_Mutation_p.G587D|GRIN1_ENST00000371559.4_Missense_Mutation_p.G587D|GRIN1_ENST00000371555.4_Missense_Mutation_p.G608D|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.G608D|GRIN1_ENST00000371546.4_Missense_Mutation_p.G608D|GRIN1_ENST00000371553.3_Missense_Mutation_p.G608D|GRIN1_ENST00000315048.3_Missense_Mutation_p.G587D	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	587					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	AGCCCCTTCGGCCGGTTCAAG	0.731000													3	28					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	99025638	99025638	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:99025638G>A	ENST00000453547.2	-	2	300	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L92F|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.L101F|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.L101F|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.L92F|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.L101F																							AGAGACATGAGAGACCGGAAG	0.552000													19	155					0	0	1	0	0
RNF126P1	376412	broad.mit.edu	37	17	55123150	55123150	+	RNA	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:55123150C>G	ENST00000567452.1	+	0	312					NR_002818.2																						ACGACAGCTTCGAGATCCCCA	0.657000													4	12					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071248	9071248	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:9071248G>A	ENST00000397910.4	-	3	16401	c.16198C>T	c.(16198-16200)Cat>Tat	p.H5400Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5402	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						GGTCTCTCATGAGTGATGCTG	0.512000													34	520					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15378747	15378747	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:15378747C>T	ENST00000281513.5	-	45	5813	c.5788G>A	c.(5788-5790)Gag>Aag	p.E1930K	NBAS_ENST00000441750.1_Missense_Mutation_p.E1810K	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1930										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTGGCTTCTCAATAAAATGT	0.383000													7	73					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217434	150217434	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:150217434G>A	ENST00000313543.4	+	2	529	c.372G>A	c.(370-372)atG>atA	p.M124I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	124							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCAGCCATGAAGCACATGG	0.517000													17	62					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300380	88300380	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr11:88300380A>T	ENST00000418177.2	-	8	2838	c.2471T>A	c.(2470-2472)aTc>aAc	p.I824N	GRM5_ENST00000393297.1_Missense_Mutation_p.I824N|GRM5_ENST00000305432.5_Missense_Mutation_p.I824N|GRM5_ENST00000455756.2_Missense_Mutation_p.I824N|GRM5_ENST00000305447.4_Missense_Mutation_p.I824N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	824					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GGCCAGGATGATGTACACCTT	0.547000													12	126					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176721900	176721900	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:176721900G>C	ENST00000439151.2	+	23	7576	c.7531G>C	c.(7531-7533)Gat>Cat	p.D2511H	NSD1_ENST00000361032.4_Missense_Mutation_p.D2408H|NSD1_ENST00000354179.4_Missense_Mutation_p.D2242H|NSD1_ENST00000347982.4_Missense_Mutation_p.D2242H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2511					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CTGTGTGTCAGATCCTCTTCA	0.542000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			22	170					0	0	1	0	0
TESK1	7016	broad.mit.edu	37	9	35609360	35609360	+	Missense_Mutation	SNP	C	C	T	rs147635732		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:35609360C>T	ENST00000336395.5	+	10	1752	c.1502C>T	c.(1501-1503)tCg>tTg	p.S501L	TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	501					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGTTCCTCGGCCTCCCAA	0.647000													5	99					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30848540	30848540	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:30848540G>C	ENST00000256079.4	-	1	380	c.42C>G	c.(40-42)atC>atG	p.I14M		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	14					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTCGGGTCGATGGTGCCCT	0.667000											OREG0021722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37121722	37121722	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:37121722C>T	ENST00000274258.7	-	48	9301	c.5714G>A	c.(5713-5715)aGa>aAa	p.R1905K	C5orf42_ENST00000425232.2_Missense_Mutation_p.R3007K|C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.R3007K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3007										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTCTTACCCTCTTGGAGAAGG	0.448000													6	65					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77471357	77471357	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:77471357T>C	ENST00000560626.2	-	4	3387	c.2912A>G	c.(2911-2913)cAt>cGt	p.H971R	PEAK1_ENST00000312493.4_Missense_Mutation_p.H971R|PEAK1_ENST00000558305.1_Missense_Mutation_p.H971R			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	971					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										GAACCAGTGATGGCGCTGAAC	0.542000													11	59					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851577	43851577	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:43851577C>G	ENST00000372769.3	+	2	1394	c.1304C>G	c.(1303-1305)tCt>tGt	p.S435C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	435	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAGTATTTCTATCCAAACT	0.363000													22	112					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561571	219561571	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:219561571G>C	ENST00000392106.2	+	22	2780	c.2514G>C	c.(2512-2514)atG>atC	p.M838I	STK36_ENST00000440309.1_Intron|STK36_ENST00000392105.3_Intron|STK36_ENST00000295709.3_Intron			Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	838					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ACATACACATGAGTTGTGAGG	0.458000													13	102					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106040	14106040	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:14106040G>A	ENST00000235372.7	+	8	2606	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.D584N|PRDM2_ENST00000413440.1_Missense_Mutation_p.D383N|PRDM2_ENST00000343137.4_Missense_Mutation_p.D383N|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	584						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TAGTAACTGTGATGTGATTGA	0.333000													9	69					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	22					0.0215528	0.0215528	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92789824	92789824	+	Silent	SNP	C	C	T	rs148437789	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:92789824C>T	ENST00000370343.3	+	8	1456	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	449						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TGCCAAGTTACGAGAATTTGA	0.423000													15	103					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88200404	88200404	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:88200404C>T	ENST00000357081.3	-	23	3283	c.3139G>A	c.(3139-3141)Gat>Aat	p.D1047N	AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1059N|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D1007N|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1047					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TCCACAACATCACATGAAGTT	0.343000													19	163					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75650805	75650805	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:75650805C>T	ENST00000565683.1	-	20	2463	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	MAN2C1_ENST00000563622.1_Missense_Mutation_p.E702K|MAN2C1_ENST00000569482.1_Missense_Mutation_p.E801K|MAN2C1_ENST00000267978.5_Missense_Mutation_p.E801K	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	801			R -> H (in dbSNP:rs58557444).		mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCGACTACCTCGGTGTGGAAG	0.627000													9	78					0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103920652	103920652	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:103920652G>A	ENST00000405356.1	+	10	1808	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	NOLC1_ENST00000603742.1_Missense_Mutation_p.E234K|NOLC1_ENST00000488254.2_Missense_Mutation_p.E516K|NOLC1_ENST00000477977.1_3'UTR|NOLC1_ENST00000605788.1_Missense_Mutation_p.E515K			Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	515	11 X 12 AA approximate repeats of an acidic serine cluster.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGGAAAGGCTGAGAGCAGCAA	0.527000													12	135					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	35					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938627	101938627	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:101938627G>C	ENST00000348070.1	-	8	974	c.975C>G	c.(973-975)ttC>ttG	p.F325L	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.F325L|PCSK6_ENST00000344273.2_Missense_Mutation_p.F325L|PCSK6_ENST00000331826.7_Missense_Mutation_p.F160L|PCSK6_ENST00000358417.3_Missense_Mutation_p.F325L	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	326	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGCCATACTCGAAAGCCTGCT	0.552000													26	209					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78693382	78693382	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:78693382C>T	ENST00000334082.6	-	7	2205	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HOMER1_ENST00000282260.6_Missense_Mutation_p.E125K|HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000535690.1_Missense_Mutation_p.E81K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	255					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TCTTCCAGTTCTTGTATTGTC	0.348000													17	133					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791837	44791837	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:44791837G>C	ENST00000291182.4	-	5	1853	c.1751C>G	c.(1750-1752)tCa>tGa	p.S584*	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TTGAAGATTTGAAGCCTGACT	0.478000													17	144					0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482633	94482633	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:94482633C>T	ENST00000377047.4	+	3	1161	c.546C>T	c.(544-546)ttC>ttT	p.F182F	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	182						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				AGTATCACTTCAGTGAAGACT	0.493000													16	85					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399095	22399095	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr11:22399095C>T	ENST00000263160.3	+	12	1995	c.1558C>T	c.(1558-1560)Cat>Tat	p.H520Y		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	520					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGATTTATTCATGAAGATGA	0.408000													10	102					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49086941	49086941	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:49086941G>A	ENST00000261900.3	-	9	2278	c.2056C>T	c.(2056-2058)Cct>Tct	p.P686S		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	686					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TCACTATAAGGACGAACAAAT	0.512000													14	119					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135373621	135373621	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:135373621A>G	ENST00000343131.5	-	2	214	c.110T>C	c.(109-111)aTg>aCg	p.M37T	SYCE1_ENST00000432597.2_Start_Codon_SNP_p.M1T|SYCE1_ENST00000368517.3_Start_Codon_SNP_p.M1T|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	37					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACCATTTCCATCAAGTCTTC	0.527000													4	60					0	0	1	0	0
OSTC	58505	broad.mit.edu	37	4	109571866	109571866	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:109571866C>T	ENST00000361564.4	+	1	127	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	OSTC_ENST00000505745.1_3'UTR|OSTC_ENST00000512478.2_Silent_p.L19L	NM_021227.3	NP_067050.1	Q9NRP0	OSTC_HUMAN	oligosaccharyltransferase complex subunit (non-catalytic)	19						integral to membrane|oligosaccharyltransferase complex				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CAACCTGAAGCTGAAGAAGCC	0.587000													9	126					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844061	15844061	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:15844061C>T	ENST00000338282.6	-	16	2098	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L	MYH11_ENST00000300036.5_Silent_p.L664L|MYH11_ENST00000452625.2_Silent_p.L671L|MYH11_ENST00000396324.3_Silent_p.L671L|MYH11_ENST00000576790.1_Silent_p.L664L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	664	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTGGTCATCAGCTTGCCCA	0.642000			T	CBFB	AML								6	73					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150176241	150176241	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:150176241G>A	ENST00000361875.2	+	4	3177	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K	TSC22D2_ENST00000361136.2_Missense_Mutation_p.E697K	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	721							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGAATTAGTTGAAAGAAACTC	0.353000													13	96					0	0	1	0	0
CTSL3P	392360	broad.mit.edu	37	9	90388107	90388107	+	RNA	SNP	C	C	G	rs150077148		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:90388107C>G	ENST00000354530.2	+	0	178					NR_027917.1																						TCATGACATCCGCAAATCTGT	0.498000													9	101					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131749890	131749890	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:131749890C>G	ENST00000372577.2	+	23	2308	c.2287C>G	c.(2287-2289)Ctc>Gtc	p.L763V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	763					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CCTGCAGTTTCTCTGCATCTG	0.507000													10	79					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8601175	8601175	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:8601175C>G	ENST00000338257.8	-	19	2271	c.2004G>C	c.(2002-2004)caG>caC	p.Q668H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	668	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGCTCCCCATCTGGTACTGGT	0.607000													11	99					0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116977967	116977967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr6:116977967G>A	ENST00000368576.3	-	5	1084	c.841C>T	c.(841-843)Cga>Tga	p.R281*	ZUFSP_ENST00000368573.1_Intron|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	281						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TCCATATTTCGTAGTTGTTGT	0.328000													3	29					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197407738	197407738	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:197407738G>T	ENST00000367397.1	+	6	2812	c.1954G>T	c.(1954-1956)Gga>Tga	p.G652*	CRB1_ENST00000367400.3_Nonsense_Mutation_p.G1271*|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000535699.1_Nonsense_Mutation_p.G1247*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.G1159*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.G752*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.G735*			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1271	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCTACAATGGAGGCAACTG	0.443000													11	138					9.70103e-10	1.02476e-09	1	1	0
TLN1	7094	broad.mit.edu	37	9	35712044	35712044	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:35712044C>G	ENST00000314888.9	-	28	3992	c.3639G>C	c.(3637-3639)ctG>ctC	p.L1213L	TLN1_ENST00000540444.1_Silent_p.L1213L	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1213					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAACTGCCCTCAGGGCATTAT	0.602000													8	50					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70152914	70152914	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:70152914C>T	ENST00000388768.2	-	7	1062	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	RUFY2_ENST00000399200.2_Missense_Mutation_p.E177K|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000602465.1_Missense_Mutation_p.E211K|RUFY2_ENST00000454950.2_Missense_Mutation_p.E153K	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	260						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						CTATTTAATTCTTCAACATAA	0.303000													4	31					0	0	1	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211121	107211121	+	RNA	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:107211121G>A	ENST00000390636.2	-	0	247																											AAGCCTGGCGGACCCAGTGCA	0.597000													16	135					0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160156518	160156518	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:160156518A>C	ENST00000543469.1	-	2	668	c.454T>G	c.(454-456)Ttg>Gtg	p.L152V	TRIM59_ENST00000309784.4_Missense_Mutation_p.L152V|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L152V			Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	152						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GTGTCAGTCAACTGTTCAAGC	0.393000													9	153					0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123983203	123983203	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:123983203C>T	ENST00000306315.5	-	4	3309	c.2874G>A	c.(2872-2874)atG>atA	p.M958I	ZNF608_ENST00000504926.1_Missense_Mutation_p.M531I	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	958	Ser-rich.					intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CCTTTGATCTCATACCCTCCG	0.468000													12	132					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873791	189873791	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:189873791G>T	ENST00000304636.3	+	48	3837	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.E920*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1223					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			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)	TTATGGAGATGAACCAATGGA	0.473000													21	143					3.51602e-12	3.82176e-12	1	1	0
TTI1	9675	broad.mit.edu	37	20	36640338	36640338	+	Silent	SNP	T	T	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:36640338T>G	ENST00000373448.2	-	3	2119	c.1881A>C	c.(1879-1881)atA>atC	p.I627I	TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Silent_p.I627I|TTI1_ENST00000373447.3_Silent_p.I627I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	627							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ACTGAATGCATATTTGCCAGA	0.448000													25	205					0	0	1	0	0
ATF5	22809	broad.mit.edu	37	19	50435975	50435975	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:50435975C>G	ENST00000423777.2	+	3	852	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	ATF5_ENST00000595125.1_Missense_Mutation_p.L159V|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	159	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CTTGGATACTCTGGACTTGCT	0.687000													3	15					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811238	160811238	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:160811238C>A	ENST00000368034.4	-	3	594	c.417G>T	c.(415-417)aaG>aaT	p.K139N	CD244_ENST00000368033.3_Missense_Mutation_p.K144N|CD244_ENST00000368032.2_Missense_Mutation_p.K139N|CD244_ENST00000322302.7_Intron	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	144	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGTCCAGGATCTTCCCCTGCC	0.502000													16	152					3.41278e-10	3.65655e-10	1	1	0
CHD7	55636	broad.mit.edu	37	8	61761617	61761617	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr8:61761617G>A	ENST00000423902.2	+	25	5787	c.5308G>A	c.(5308-5310)Gat>Aat	p.D1770N	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1770					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGTGAAGCCGATGTGTGGAT	0.393000													20	131					0	0	1	0	0
CSH1	1442	broad.mit.edu	37	17	61972892	61972892	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:61972892C>A	ENST00000329882.8	-	4	467	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Missense_Mutation_p.D133Y			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	133					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCATCGCTGTCCGAGGTGTCA	0.592000									Russell-Silver syndrome				11	109					4.68919e-08	4.90729e-08	1	1	0
ADCK1	57143	broad.mit.edu	37	14	78398019	78398019	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:78398019C>G	ENST00000238561.5	+	10	1464	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.L387L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	462	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCTCCTTTCTCAACATGTCAC	0.647000													7	72					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19102581	19102581	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:19102581G>C	ENST00000380502.3	-	1	536	c.69C>G	c.(67-69)ttC>ttG	p.F23L		NM_017645.3	NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	23					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCTGGCTCGAAGCCGAGCG	0.652000													6	50					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821545	100821545	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:100821545G>A	ENST00000268070.4	-	4	783	c.678C>T	c.(676-678)atC>atT	p.I226I		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	226					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGTGAGCCGGATAGCGTTCC	0.627000													7	41					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31712588	31712588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:31712588G>A	ENST00000320027.5	-	17	2670	c.2326C>T	c.(2326-2328)Cag>Tag	p.Q776*	HSPH1_ENST00000429785.2_Nonsense_Mutation_p.Q595*|HSPH1_ENST00000380405.4_Nonsense_Mutation_p.Q732*|HSPH1_ENST00000445273.2_Nonsense_Mutation_p.Q778*|HSPH1_ENST00000380406.5_Nonsense_Mutation_p.Q735*	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	776					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		ACTGGATCCTGATCAAGACTC	0.383000													56	318					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541456	190541456	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:190541456C>T	ENST00000520309.1	+	2	328	c.240C>T	c.(238-240)ttC>ttT	p.F80F	ANKAR_ENST00000313581.4_Silent_p.F80F|ANKAR_ENST00000431575.2_Silent_p.F9F|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000438402.2_Silent_p.F80F	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	80						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACGTAGGCTTCTCCACTGCAA	0.453000													14	156					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564016	176564016	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:176564016C>A	ENST00000367662.3	+	3	2440	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L426M	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	426					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTGGGCACACTGGTTTTCTG	0.577000													20	182					0.00121646	0.00123848	1	1	0
CCNT1	904	broad.mit.edu	37	12	49086993	49086993	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:49086993G>A	ENST00000261900.3	-	9	2226	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	668					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCTGGGCACTGAGCAGGGAGT	0.498000													14	142					0	0	1	0	0
RAB5A	5868	broad.mit.edu	37	3	20019840	20019840	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:20019840C>T	ENST00000273047.4	+	5	1013	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RAB5A_ENST00000422242.1_Silent_p.F145F	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	159					blood coagulation|protein transport|receptor internalization|regulation of filopodium assembly|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GDP binding|GTP binding|GTPase activity			lung(1)|urinary_tract(1)	2						GTTTATTATTCATGGAGACAT	0.303000													26	154					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073402	74073402	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr6:74073402G>A	ENST00000370367.3	+	3	526	c.473G>A	c.(472-474)cGt>cAt	p.R158H		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		GGGACCCAGCGTTCGGTGGAA	0.672000													12	51					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102179949	102179949	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:102179949T>C	ENST00000299314.7	-	5	674	c.412A>G	c.(412-414)Atg>Gtg	p.M138V	GNPTAB_ENST00000549940.1_Missense_Mutation_p.M138V	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	138					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AGGACAAGCATTGGCACCTTA	0.433000													3	30					0	0	1	0	0
TAS2R7	50837	broad.mit.edu	37	12	10955127	10955127	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:10955127C>T	ENST00000240687.2	-	1	99	c.43G>A	c.(43-45)Gga>Aga	p.G15R		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	15					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GAAAACTCTCCAACTGCTAAG	0.398000													25	209					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164050298	164050298	+	Silent	SNP	C	C	T	rs144458080		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:164050298C>T	ENST00000274054.2	-	8	1429	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	412					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TATTTTGTCTCTGAGAAGGAA	0.502000													9	55					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533523	169533523	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:169533523G>A	ENST00000449804.2	+	1	607	c.562G>A	c.(562-564)Gag>Aag	p.E188K	FOXI1_ENST00000306268.6_Missense_Mutation_p.E188K	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	188					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCCGCGACGAGGACGACCC	0.577000									Pendred syndrome				11	43					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22771063	22771063	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:22771063C>T	ENST00000404625.1	+	6	969	c.510C>T	c.(508-510)acC>acT	p.T170T	IL6_ENST00000401630.3_Silent_p.T147T|IL6_ENST00000407492.1_Silent_p.T94T|IL6_ENST00000258743.5_Silent_p.T170T			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	170					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CTGACCCAACCACAAATGCCA	0.458000													7	85					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241671920	241671920	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:241671920G>C	ENST00000366560.3	-	5	759	c.721C>G	c.(721-723)Cca>Gca	p.P241A		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	241					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGAGTAAGTGGAACAGCATCC	0.398000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				9	111					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34823604	34823604	+	Missense_Mutation	SNP	G	G	A	rs147963481	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:34823604G>A	ENST00000265109.3	+	15	1944	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	RAI14_ENST00000397449.1_Missense_Mutation_p.V546M|RAI14_ENST00000503673.1_Missense_Mutation_p.V553M|RAI14_ENST00000515799.1_Missense_Mutation_p.V556M|RAI14_ENST00000428746.2_Missense_Mutation_p.V553M|RAI14_ENST00000512629.1_Missense_Mutation_p.V524M|RAI14_ENST00000506376.1_Missense_Mutation_p.V545M	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	553						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					taaagagaaagtgagagagtt	0.408000													4	66					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898425	112898425	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:112898425G>C	ENST00000374530.3	+	8	781	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	AKAP2_ENST00000555236.1_Missense_Mutation_p.E201Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E201Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.E201Q|AKAP2_ENST00000259318.7_5'UTR|AKAP2_ENST00000434623.2_Missense_Mutation_p.E59Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.E59Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		195							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCAGCTTTCTGAGGATGATAT	0.438000													15	95					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34654985	34654985	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:34654985C>T	ENST00000314891.6	-	8	976	c.799G>A	c.(799-801)Gag>Aag	p.E267K		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	267					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGCCATACCTCCACATCCACA	0.522000													9	67					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													7	55					0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226475390	226475390	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:226475390C>T	ENST00000328205.5	-	5	966	c.421G>A	c.(421-423)Gag>Aag	p.E141K	LIN9_ENST00000481685.1_Missense_Mutation_p.E106K|LIN9_ENST00000366801.1_Missense_Mutation_p.E90K	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	125	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TAGAACCACTCGTATATACAC	0.313000													24	175					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22864301	22864301	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:22864301G>C	ENST00000283645.4	+	16	2389	c.2259G>C	c.(2257-2259)caG>caC	p.Q753H	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q753H	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	753					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAACATGGCAGAATGTGTCTT	0.358000													5	100					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173910431	173910431	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:173910431G>A	ENST00000367696.2	-	19	3574	c.3223C>T	c.(3223-3225)Ccg>Tcg	p.P1075S	RC3H1_ENST00000258349.4_Missense_Mutation_p.P1075S|RC3H1_ENST00000367694.2_Missense_Mutation_p.P1066S			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1075					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCCTCAGCCGGAACCTTGTTT	0.363000													13	138					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286342	152286342	+	Missense_Mutation	SNP	A	A	T	rs140261784	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:152286342A>T	ENST00000368799.1	-	3	1055	c.1020T>A	c.(1018-1020)gaT>gaA	p.D340E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	340	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CTCTGTCTTCATCATGGGACC	0.562000									Ichthyosis				17	533					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476414	140476414	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:140476414G>A	ENST00000194155.4	+	1	2188	c.2040G>A	c.(2038-2040)ccG>ccA	p.P680P		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCACCGGCCCAGGCCC	0.692000													29	228					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422008	1422008	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:1422008C>T	ENST00000270349.9	-	5	902	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V259M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	259					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGGTCTTCACGCCCTTCCAG	0.642000													18	158					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982241	57982241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr11:57982241C>T	ENST00000309433.6	+	1	25	c.25C>T	c.(25-27)Cag>Tag	p.Q9*		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TTCCTTTCTTCAGATCGGCAG	0.388000													9	105					0	0	1	0	0
SIRT4	23409	broad.mit.edu	37	12	120741830	120741830	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:120741830C>T	ENST00000202967.4	+	2	525	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	156	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.R156C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGTCGGCGCCTGACAGA	0.567000													11	80					0	0	1	0	0
TTLL2	83887	broad.mit.edu	37	6	167752174	167752174	+	Silent	SNP	T	T	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr6:167752174T>C	ENST00000239587.5	+	2	175	c.87T>C	c.(85-87)atT>atC	p.I29I		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	29					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCCTTAACATTCCATCCGAGG	0.542000													11	67					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131752418	131752418	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:131752418C>G	ENST00000372577.2	+	25	2574	c.2553C>G	c.(2551-2553)ctC>ctG	p.L851L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	851					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAAACAACCTCATTGCTGTTC	0.458000													54	466					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166810314	166810314	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:166810314G>A	ENST00000367875.1	+	2	481	c.121G>A	c.(121-123)Gag>Aag	p.E41K	POGK_ENST00000537173.1_5'UTR|POGK_ENST00000367876.4_Missense_Mutation_p.E41K|POGK_ENST00000536514.1_5'UTR			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	41					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						AATCTGCTCTGAGGGCGGATG	0.537000													16	116					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35053184	35053184	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:35053184G>C	ENST00000310974.4	-	4	470	c.326C>G	c.(325-327)cCt>cGt	p.P109R		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	109						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CCTTACCTCAGGGTAAAGATT	0.284000													8	181					0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34024066	34024066	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:34024066C>T	ENST00000382065.3	-	5	1454	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.E177K|C1QTNF3_ENST00000513065.1_5'UTR	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	177						collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					ACATACACTTCCTCAACATCC	0.413000													10	95					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13162805	13162805	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr8:13162805G>C	ENST00000276297.4	-	5	1730	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	DLC1_ENST00000316609.5_Missense_Mutation_p.Q441E|DLC1_ENST00000511869.1_Missense_Mutation_p.Q441E	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	441					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAAATACCTTGAATAGCCTGA	0.303000													10	67					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539846	56539846	+	Silent	SNP	C	C	T	rs149649207	by1000genomes	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:56539846C>T	ENST00000390649.3	+	7	2247	c.2247C>T	c.(2245-2247)tcC>tcT	p.S749S		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	749						mitochondrion|nucleolus	ATP binding	p.S749S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGATGAGTCCGCTGAGGCAT	0.517000													18	272					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196664086	196664086	+	Silent	SNP	T	T	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:196664086T>G	ENST00000312428.6	-	55	10387	c.10287A>C	c.(10285-10287)ccA>ccC	p.P3429P		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3429	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGAAAATCAGTGGTGCACAGC	0.438000													25	135					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45656994	45656994	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:45656994G>A	ENST00000267430.5	+	19	4768	c.4683G>A	c.(4681-4683)atG>atA	p.M1561I	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.M1535I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1561					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						ATTCTGAAATGAGAGCTATTT	0.254000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	37					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215853692	215853692	+	Silent	SNP	G	G	A	rs55921307	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:215853692G>A	ENST00000366943.2	-	62	12479	c.12093C>T	c.(12091-12093)taC>taT	p.Y4031Y	USH2A_ENST00000307340.3_Silent_p.Y4031Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4031	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTCTAACCCGTACAGGTGGG	0.388000										HNSCC(13;0.011)			25	152					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61308162	61308162	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr18:61308162C>A	ENST00000341074.5	-	5	530	c.415G>T	c.(415-417)Gct>Tct	p.A139S	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A139S	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCTTCTGGAGCATTTGCAAAA	0.393000													11	63					9.70103e-10	1.02476e-09	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732513	138732513	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:138732513G>C	ENST00000242351.5	-	13	2852	c.2536C>G	c.(2536-2538)Ctg>Gtg	p.L846V	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L968V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	846	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTTCCAACCAGAACTTGGGCT	0.423000													15	96					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22863040	22863040	+	Silent	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:22863040G>T	ENST00000283645.4	+	15	2191	c.2061G>T	c.(2059-2061)ctG>ctT	p.L687L	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.L687L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	687					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AATTAACGCTGAGATCCTGCC	0.388000													32	243					1.13719e-10	1.22425e-10	1	1	0
CCDC33	80125	broad.mit.edu	37	15	74572368	74572368	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:74572368G>A	ENST00000321288.5	+	10	1433	c.1433G>A	c.(1432-1434)cGa>cAa	p.R478Q	CCDC33_ENST00000398814.3_Missense_Mutation_p.R275Q			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	478							protein binding			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						TTCCAAGGCCGAGATGGAGCT	0.617000													11	54					0	0	1	0	0
DPP8	54878	broad.mit.edu	37	15	65756178	65756178	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:65756178T>C	ENST00000341861.5	-	15	3520	c.1940A>G	c.(1939-1941)tAt>tGt	p.Y647C	DPP8_ENST00000321147.6_Missense_Mutation_p.Y647C|DPP8_ENST00000358939.4_Missense_Mutation_p.Y631C|DPP8_ENST00000559233.1_Missense_Mutation_p.Y647C|DPP8_ENST00000321118.7_Missense_Mutation_p.Y647C|DPP8_ENST00000300141.6_Missense_Mutation_p.Y631C|DPP8_ENST00000339244.5_Missense_Mutation_p.Y474C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	647					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGCATCCCATACAATGTAAA	0.388000													12	76					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134044431	134044431	+	Silent	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:134044431G>C	ENST00000398844.2	+	18	2868	c.2580G>C	c.(2578-2580)ctG>ctC	p.L860L		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	860					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCCAGTCTGAGTGACGCTC	0.443000													21	148					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131948538	131948538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr6:131948538G>A	ENST00000403834.3	-	3	330	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	MED23_ENST00000368058.1_Nonsense_Mutation_p.Q53*|MED23_ENST00000368053.4_Nonsense_Mutation_p.Q53*|MED23_ENST00000540546.1_Nonsense_Mutation_p.Q53*|MED23_ENST00000368060.3_Nonsense_Mutation_p.Q53*|MED23_ENST00000354577.4_Nonsense_Mutation_p.Q53*|MED23_ENST00000539158.1_Nonsense_Mutation_p.Q53*|MED23_ENST00000368068.3_Nonsense_Mutation_p.Q53*			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	53					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCGCTCACCTGAGAAAGACCA	0.333000													14	104					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472233	71472233	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:71472233G>T	ENST00000322937.6	+	13	1233	c.1130G>T	c.(1129-1131)aGc>aTc	p.S377I	AMBN_ENST00000449493.2_Missense_Mutation_p.S362I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	377					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGACTCCCCAGCGTCACCCCA	0.567000													7	76					5.18039e-06	5.34673e-06	1	1	0
APOB	338	broad.mit.edu	37	2	21230397	21230397	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:21230397C>T	ENST00000233242.1	-	26	9470	c.9343G>A	c.(9343-9345)Gta>Ata	p.V3115I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3115					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTATTCCTACATGGGCCTCC	0.393000													24	154					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605396	54605396	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:54605396C>T	ENST00000371330.1	-	4	1994	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	383						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCTTCGCCCTCAGTGGACCCA	0.617000													4	45					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640599	57640599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:57640599G>T	ENST00000254181.4	+	4	1010	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	USP29_ENST00000598197.1_Nonsense_Mutation_p.E186*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	186					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)		CATTCTGAAGGAAGATAACCC	0.358000													16	149					6.72482e-11	7.27445e-11	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744899	140744899	+	Silent	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:140744899G>T	ENST00000518069.1	+	1	1002	c.1002G>T	c.(1000-1002)gtG>gtT	p.V334V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														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)			CTAAGGTGGTGGTCACAGTAC	0.512000													4	45					0.00909568	0.00917726	1	1	0
PIGB	9488	broad.mit.edu	37	15	55619816	55619816	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:55619816G>A	ENST00000164305.5	+	4	796	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	PIGB_ENST00000539642.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	169					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		AGAAAATCAGGAAGTGGCAAG	0.393000													3	29					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31138575	31138575	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:31138575C>T	ENST00000543774.2	+	6	917	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KAT8_ENST00000219797.4_Silent_p.F194F|KAT8_ENST00000448516.2_Silent_p.F194F			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	194					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										CCTGGTATTTCTCACCATTCC	0.517000													13	146					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28578263	28578263	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:28578263G>T	ENST00000380982.4	-	24	2998	c.2917C>A	c.(2917-2919)Caa>Aaa	p.Q973K	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.Q970K|FLT3_ENST00000537084.1_Missense_Mutation_p.Q929K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	970					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCTGTTTTGGTAGGTGTGA	0.463000			"""Mis, O"""		"""AML, ALL"""								9	48					3.09899e-07	3.22811e-07	1	1	0
ABCA3	21	broad.mit.edu	37	16	2335490	2335490	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:2335490G>C	ENST00000301732.5	-	23	4136	c.3436C>G	c.(3436-3438)Ctg>Gtg	p.L1146V	ABCA3_ENST00000382381.3_Missense_Mutation_p.L1088V	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1146					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCCACAGCAGAGCAGAGAGC	0.632000													3	23					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63212678	63212678	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:63212678G>A	ENST00000399298.3	-	1	530	c.162C>T	c.(160-162)ctC>ctT	p.L54L	TMEM26_ENST00000399293.1_Silent_p.L54L|RP11-809M12.1_ENST00000389640.4_RNA	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	54						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCTTGAACTTGAGGGTGAGCG	0.642000													16	148					0	0	1	0	0
ZNF776	284309	broad.mit.edu	37	19	58265102	58265102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:58265102C>T	ENST00000317178.5	+	3	867	c.604C>T	c.(604-606)Cag>Tag	p.Q202*		NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GATACCCCTTCAGGGTGGAAA	0.448000													7	160					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16797132	16797132	+	Silent	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:16797132C>G	ENST00000187762.2	+	5	679	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	196						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						GAGCCATCCTCTTCACCCTCC	0.567000													7	48					0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11087442	11087442	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:11087442C>T	ENST00000400897.3	-	11	1576	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	521	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.E521K(2)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GTATAACCTTCATGTATAAAA	0.403000													30	252					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158819004	158819004	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:158819004G>T	ENST00000368141.4	+	7	1462	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	401					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAAAAACAAGGAAGGACCAAT	0.318000													22	61					6.44725e-10	6.87503e-10	1	1	0
SEMG2	6407	broad.mit.edu	37	20	43851975	43851975	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:43851975C>G	ENST00000372769.3	+	2	1792	c.1702C>G	c.(1702-1704)Cat>Gat	p.H568D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	568					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCAAGATGATCATTTGACACA	0.383000													9	78					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581643	24581643	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr22:24581643C>T	ENST00000358321.3	+	8	1346	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	362	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CGGTACGGCTCAGGTCAGCAG	0.701000													3	29					0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31381030	31381030	+	Splice_Site	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:31381030C>G	ENST00000355683.5	-	10	1514	c.1298_splice	c.e10-1	p.K433_splice	STRN3_ENST00000357479.5_Splice_Site_p.K517_splice	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	463					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		AAGAGGCACTCCTAAAAGAGG	0.328000													7	63					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814224	43814224	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:43814224G>C	ENST00000382031.1	+	5	1298	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.E185Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.E185Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	185	9 X 3 AA repeats of K-K-[DE].|Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAATACCATTGAGCCACTGAC	0.542000													17	108					0	0	1	0	0
SLC26A6	65010	broad.mit.edu	37	3	48664422	48664422	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:48664422C>G	ENST00000358747.6	-	17	2147	c.1897G>C	c.(1897-1899)Gat>Cat	p.D633H	SLC26A6_ENST00000420764.2_Missense_Mutation_p.D653H|SLC26A6_ENST00000383733.3_Missense_Mutation_p.D635H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.D654H|SLC26A6_ENST00000455886.2_Missense_Mutation_p.D618H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.D546H	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GTGGACCCATCTGGGGCCTTG	0.592000													22	170					0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108881784	108881784	+	Missense_Mutation	SNP	C	C	T	rs36109094		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:108881784C>T	ENST00000375898.3	+	2	519	c.218C>T	c.(217-219)tCt>tTt	p.S73F		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	73						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAGCCATCCTCTTCACGTCTT	0.353000													18	117					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3227432	3227432	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:3227432G>A	ENST00000355072.5	+	57	7955	c.7810G>A	c.(7810-7812)Gag>Aag	p.E2604K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2604					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GATCAACCCCGAGCGGGAGCT	0.642000													7	41					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507607	28507607	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:28507607G>A	ENST00000564831.1	+	2	1278	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E	APOBR_ENST00000431282.1_Silent_p.E406E|APOBR_ENST00000328423.5_Silent_p.E406E	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	406	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGGGGATGAGGAGAGAGAGG	0.582000													6	41					0	0	1	0	0
SLC7A14	57709	broad.mit.edu	37	3	170185016	170185016	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:170185016C>T	ENST00000231706.4	-	8	2458	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	715						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCTGGCTCTCGCCCTCTGTG	0.582000													8	90					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498482	73498482	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:73498482C>T	ENST00000321617.3	-	18	3259	c.2673G>A	c.(2671-2673)gaG>gaA	p.E891E	CASKIN2_ENST00000433559.2_Silent_p.E809E	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	891	Pro-rich.		E -> G (in dbSNP:rs7503373).			cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCTGGGCTCTCATCTAGTG	0.741000													3	14					0	0	1	0	0
OLA1	29789	broad.mit.edu	37	2	175087797	175087797	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:175087797G>A	ENST00000284719.3	-	4	583	c.337C>T	c.(337-339)Cat>Tat	p.H113Y	OLA1_ENST00000344357.5_5'UTR|OLA1_ENST00000428402.2_Missense_Mutation_p.H113Y|OLA1_ENST00000409546.1_Missense_Mutation_p.H133Y	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	113	G.				ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCACTAATATGAGATAAAAAA	0.393000													7	63					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832555	27832555	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:27832555C>T	ENST00000318304.8	+	19	2050	c.1767C>T	c.(1765-1767)atC>atT	p.I589I	PPFIBP1_ENST00000542629.1_Silent_p.I558I|PPFIBP1_ENST00000537927.1_Silent_p.I436I|PPFIBP1_ENST00000228425.6_Silent_p.I583I	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	589					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CCAGAGGTATCATGAAACTCT	0.443000													22	170					0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3743318	3743318	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:3743318G>A	ENST00000252505.3	+	8	685	c.523G>A	c.(523-525)Gca>Aca	p.A175T	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	194							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGTGGAATTGCACGACTTAG	0.468000										HNSCC(21;0.051)			6	43					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123782635	123782635	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:123782635G>A	ENST00000420886.2	-	30	3928	c.3929C>T	c.(3928-3930)tCa>tTa	p.S1310L	SBNO1_ENST00000602750.1_Missense_Mutation_p.S1309L|SBNO1_ENST00000602398.1_Missense_Mutation_p.S1310L|SBNO1_ENST00000267176.4_Missense_Mutation_p.S1309L	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1310							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTCAGCACTGAACCACATAA	0.453000													13	117					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087120	49087120	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:49087120G>C	ENST00000261900.3	-	9	2099	c.1877C>G	c.(1876-1878)tCa>tGa	p.S626*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	626	Ser-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCTGGGCTGTGAAAAGGAAAG	0.483000													12	96					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													10	105					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73499789	73499789	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:73499789G>A	ENST00000321617.3	-	16	2217	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	CASKIN2_ENST00000433559.2_Missense_Mutation_p.S462L	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	544	SAM 1.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGATCTCTGAGGCGATCTT	0.657000													9	65					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54363664	54363664	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr18:54363664C>G	ENST00000254442.3	+	12	1760	c.1549C>G	c.(1549-1551)Caa>Gaa	p.Q517E	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.Q517E	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	517										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGAGATTACTCAACTTCTAGT	0.328000													13	80					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41939526	41939526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:41939526C>A	ENST00000221943.9	-	4	354	c.349G>T	c.(349-351)Gag>Tag	p.E117*	ATP5SL_ENST00000595425.1_Nonsense_Mutation_p.E90*|ATP5SL_ENST00000592922.2_Nonsense_Mutation_p.E90*|ATP5SL_ENST00000589970.1_Nonsense_Mutation_p.E117*|ATP5SL_ENST00000301183.11_Nonsense_Mutation_p.E123*|ATP5SL_ENST00000417807.3_Nonsense_Mutation_p.E123*|ATP5SL_ENST00000590641.2_Nonsense_Mutation_p.E96*|ATP5SL_ENST00000597457.1_Nonsense_Mutation_p.E90*|ATP5SL_ENST00000438807.3_Nonsense_Mutation_p.E90*	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	117										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						TTCCAGAACTCCTGAGAGAAA	0.552000													23	211					9.95505e-16	1.08732e-15	1	1	0
FAN1	22909	broad.mit.edu	37	15	31217443	31217443	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:31217443C>G	ENST00000362065.4	+	9	2577	c.2286C>G	c.(2284-2286)ttC>ttG	p.F762L	FAN1_ENST00000568145.1_3'UTR	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	762					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						GTAAAAAGTTCAAGCACCTCT	0.567000								Direct reversal of damage					11	82					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211194	59211194	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr11:59211194C>A	ENST00000302030.2	+	1	578	c.553C>A	c.(553-555)Cca>Aca	p.P185T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCGACCTCCCACCAGTCCT	0.527000													40	290					2.26627e-22	2.48737e-22	1	1	0
FLG	2312	broad.mit.edu	37	1	152286344	152286344	+	Missense_Mutation	SNP	C	C	G	rs145070318	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:152286344C>G	ENST00000368799.1	-	3	1053	c.1018G>C	c.(1018-1020)Gat>Cat	p.D340H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	340	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			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)			CTGTCTTCATCATGGGACCTG	0.562000									Ichthyosis				16	537					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861877	22861877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:22861877G>T	ENST00000283645.4	+	14	2027	c.1897G>T	c.(1897-1899)Gaa>Taa	p.E633*	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Nonsense_Mutation_p.E633*	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	633					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCCATTGCTGAAAGCCATCT	0.458000													14	157					7.93312e-07	8.22559e-07	1	1	0
AMBP	259	broad.mit.edu	37	9	116835207	116835207	+	Missense_Mutation	SNP	C	C	T	rs142095902		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:116835207C>T	ENST00000265132.3	-	5	816	c.554G>A	c.(553-555)cGa>cAa	p.R185Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	185					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTATGTACCTCGGTCAGCCAT	0.617000													5	46					0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10157406	10157406	+	RNA	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:10157406C>T	ENST00000495140.1	+	0	1005																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTCCCTCCAGCGGATGAAGAA	0.532000													4	40					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22036746	22036746	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr22:22036746C>G	ENST00000406385.1	+	8	468	c.408C>G	c.(406-408)atC>atG	p.I136M	PPIL2_ENST00000398831.3_Missense_Mutation_p.I136M|PPIL2_ENST00000456792.2_Missense_Mutation_p.I115M|PPIL2_ENST00000412327.1_Missense_Mutation_p.I136M|PPIL2_ENST00000335025.7_Missense_Mutation_p.I136M|PPIL2_ENST00000492445.2_Missense_Mutation_p.I136M			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	136					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AGCTAAATATCAAGGCCAAGA	0.607000													11	82					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103271129	103271129	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:103271129G>C	ENST00000376052.3	+	5	569	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	TPP2_ENST00000376065.4_Missense_Mutation_p.E185Q			P29144	TPP2_HUMAN	tripeptidyl peptidase II	185					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTCTTTTGAGAAGAAATA	0.373000													21	122					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821539	100821539	+	Silent	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr15:100821539G>A	ENST00000268070.4	-	4	789	c.684C>T	c.(682-684)ctC>ctT	p.L228L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	228					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCTCGCTGGTGAGCCGGATAG	0.622000													11	52					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	403797	403797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:403797G>A	ENST00000280886.6	-	23	2962	c.2875C>T	c.(2875-2877)Cag>Tag	p.Q959*	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Nonsense_Mutation_p.Q280*	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	959						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCTTCGATCTGACCCAGGTCT	0.587000													13	89					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76255365	76255365	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr7:76255365A>G	ENST00000310842.4	-	2	701	c.17T>C	c.(16-18)gTg>gCg	p.V6A	AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.V6A|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	6										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				CCTCAGAGTCACTGGGCTACA	0.507000													6	58					0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61592387	61592387	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:61592387C>G	ENST00000263102.6	-	3	709	c.478G>C	c.(478-480)Gaa>Caa	p.E160Q		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	160	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		AGATGCTGTTCTAGTTCGGCT	0.398000			T	RET	NSCLC								9	64					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168115356	168115356	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:168115356C>T	ENST00000409728.1	+	11	2488	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.S800F|XIRP2_ENST00000409756.2_Missense_Mutation_p.S767F|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.S767F|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.S545F	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	89					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATATTTGAATCTGAAAAGACT	0.408000													13	60					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727892	20727892	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:20727892C>G	ENST00000427401.4	-	4	1211	c.1117G>C	c.(1117-1119)Gaa>Caa	p.E373Q		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	373					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGCCACATTCTTCACATTTG	0.413000													9	91					0	0	1	0	0
CSNK2A1	1457	broad.mit.edu	37	20	468152	468152	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr20:468152A>C	ENST00000217244.3	-	12	1267	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.L298V|CSNK2A1_ENST00000400217.1_Missense_Mutation_p.L162V|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.L298V	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	298	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			AGGAAATCCAAGGCCTCAGGG	0.517000													13	123					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031262	7031262	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:7031262C>G	ENST00000535366.1	+	9	1737	c.1111C>G	c.(1111-1113)Cat>Gat	p.H371D	ENO2_ENST00000545045.2_Missense_Mutation_p.H252D|ENO2_ENST00000534977.1_Intron|ENO2_ENST00000544774.1_Missense_Mutation_p.H328D|ENO2_ENST00000538763.1_Missense_Mutation_p.H328D|ENO2_ENST00000229277.1_Missense_Mutation_p.H371D|ENO2_ENST00000541477.1_Missense_Mutation_p.H371D			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	371	Substrate binding (By similarity).				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CATGGTGAGTCATCGCTCAGG	0.577000													17	117					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53636095	53636095	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:53636095C>T	ENST00000262135.4	-	25	3694	c.3601G>A	c.(3601-3603)Gat>Aat	p.D1201N	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1247N|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1281N	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1281					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTCGTGCATCAAAAACTAGG	0.423000													6	52					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118510967	118510967	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr5:118510967G>A	ENST00000311085.8	+	26	6773	c.6693G>A	c.(6691-6693)atG>atA	p.M2231I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M2231I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2231										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGTATGTAATGCATACTTTAG	0.284000													6	45					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371493	114371493	+	RNA	SNP	C	C	T	rs12351897	by1000genomes	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:114371493C>T	ENST00000374304.1	-	0	306																											CTTCTCACATCGTTGTTGGGG	0.502000													8	181					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16867404	16867404	+	Nonsense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chrX:16867404G>C	ENST00000380087.2	-	10	1421	c.1061C>G	c.(1060-1062)tCa>tGa	p.S354*	RBBP7_ENST00000380084.4_Nonsense_Mutation_p.S398*|RBBP7_ENST00000404022.1_Nonsense_Mutation_p.S345*			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	354					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATCTTCTGCTGATTGTTCTTC	0.393000													14	74					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16979638	16979638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr10:16979638C>T	ENST00000377833.4	-	39	5944	c.5879G>A	c.(5878-5880)tGg>tAg	p.W1960*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1960	CUB 13.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACTGCAAACCACTCCAGAAG	0.428000													7	56					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186536069	186536069	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr4:186536069C>T	ENST00000431808.1	-	18	3362	c.2799G>A	c.(2797-2799)ccG>ccA	p.P933P	SORBS2_ENST00000437304.2_Silent_p.P657P|SORBS2_ENST00000448662.2_Silent_p.P494P|SORBS2_ENST00000449407.2_Silent_p.P477P|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Silent_p.P499P|SORBS2_ENST00000355634.5_Silent_p.P1033P|SORBS2_ENST00000319471.9_Silent_p.P564P|SORBS2_ENST00000284776.7_Silent_p.P933P|SORBS2_ENST00000418609.1_Silent_p.P837P			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	933	Poly-Pro.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGGGCTGGCGGAGGTGGTC	0.493000													21	124					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115218533	115218533	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:115218533G>A	ENST00000369538.3	-	10	1614	c.1567C>T	c.(1567-1569)Cag>Tag	p.Q523*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.Q494*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.Q527*	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	494					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGTCAGCCTGGGGGTTGATG	0.483000													23	146					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78092457	78092457	+	Silent	SNP	G	G	A	rs143642048	byFrequency	TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:78092457G>A	ENST00000302262.3	+	19	2871	c.2652G>A	c.(2650-2652)acG>acA	p.T884T	GAA_ENST00000390015.3_Silent_p.T884T	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	884					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCCAGAACACGATCGTGAATG	0.597000													20	164					0	0	1	0	0
PKDCC	91461	broad.mit.edu	37	2	42282530	42282530	+	Missense_Mutation	SNP	A	A	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:42282530A>T	ENST00000294964.5	+	5	1399	c.1219A>T	c.(1219-1221)Acc>Tcc	p.T407S	PKDCC_ENST00000480099.1_Intron	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	407	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						AAGCAGCAGTACCGGTGAGTG	0.622000													3	18					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35738624	35738624	+	Silent	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr9:35738624C>T	ENST00000378094.4	-	13	2466	c.1953G>A	c.(1951-1953)gtG>gtA	p.V651V	GBA2_ENST00000378088.1_5'UTR|GBA2_ENST00000378103.3_Silent_p.V651V|GBA2_ENST00000545786.1_Silent_p.V657V|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	651					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGATTCCATCACAGCCTAGA	0.507000													21	143					0	0	1	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169713286	169713286	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr2:169713286G>A	ENST00000444448.2	+	15	1698	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E351K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E273K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E273K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E323K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E408K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E323K			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	351					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GTTAATGGATGAGGTAAATGT	0.428000													9	70					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27332920	27332920	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:27332920C>T	ENST00000289166.5	-	2	958	c.793G>A	c.(793-795)Gtc>Atc	p.V265I		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	265										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGCGATGACACGGTGCCGC	0.672000													6	47					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21897347	21897347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:21897347G>A	ENST00000399982.2	-	2	1055	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	CHD8_ENST00000557364.1_Nonsense_Mutation_p.Q331*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.Q52*	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	331	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCTGCCCTTGGGCATTCTTG	0.552000													10	57					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115631	47115631	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr17:47115631G>A	ENST00000290341.3	+	6	837	c.503G>A	c.(502-504)cGa>cAa	p.R168Q	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	168					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AATGGGCGCCGAGGGGGCTTT	0.642000													11	87					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18846393	18846393	+	Missense_Mutation	SNP	G	G	C			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:18846393G>C	ENST00000446231.2	-	49	8563	c.8151C>G	c.(8149-8151)atC>atG	p.I2717M	SMG1_ENST00000389467.3_Missense_Mutation_p.I2717M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2717					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GTCTGCTGTTGATGTCTGCTG	0.443000													28	224					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464222	247464222	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr1:247464222C>T	ENST00000294753.4	-	9	1827	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E491K|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	455					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TCGTGGCTCTCTAGGTGCCCA	0.667000													18	86					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2																						AAAGACTTCTCTGTGAGCTTTG	0.381													3	5	---	---	---	---					
SPIDR	23514	broad.mit.edu	37	8	48647880	48647882	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr8:48647880_48647882delGAA	ENST00000297423.4	+	20	3000_3002	c.2616_2618delGAA	c.(2614-2619)gtg>gt	p.VK872del	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000517693.1_In_Frame_Del_p.VK347del|SPIDR_ENST00000518074.1_In_Frame_Del_p.E814del|SPIDR_ENST00000518060.1_Stop_Codon_Del|SPIDR_ENST00000541342.1_In_Frame_Del_p.VK802del	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		GCTACGAAGTGAAGAGTGTCCTC	0.507													20	272	---	---	---	---					
RP11-1028N23.4	0	broad.mit.edu	37	12	116030326	116030327	+	RNA	INS	-	-	T	rs113877692		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr12:116030326_116030327insT	ENST00000551940.1	-	0	343																											cctccattttcTTTTTTTTTTT	0.475													3	3	---	---	---	---					
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61																											GATGGACTGAGGCGAGGGGTGGGACT	0.646													8	7	---	---	---	---					
CMA1	1215	broad.mit.edu	37	14	24976669	24976669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr14:24976669delG	ENST00000250378.3	-	2	131	c.102delC	c.(100-102)ccfs	p.P34fs	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	34	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		AGGCCATGTAGGGGCGGGAAT	0.507													35	239	---	---	---	---					
RP11-67H24.2	0	broad.mit.edu	37	16	32823636	32823637	+	RNA	INS	-	-	C	rs112857933		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr16:32823636_32823637insC	ENST00000569859.1	+	0	373																											TTGCTGGAGTGGATGTGACAGG	0.495													7	67	---	---	---	---					
GRIN3B	116444	broad.mit.edu	37	19	1003442	1003442	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:1003442delG	ENST00000234389.3	+	2	759	c.740delG	c.(739-741)cgfs	p.R247fs		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	247					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CGTGCCCGTCGGGTGCTGGAG	0.761													2	4	---	---	---	---					
AF038458.3	0	broad.mit.edu	37	19	36448398	36448398	+	RNA	DEL	T	T	-	rs35742682		TCGA-97-A4M5-01A-11D-A24P-08	TCGA-97-A4M5-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a63c99df-c7d1-4308-980f-372d770e98ce	cccc8422-3703-4b4c-a9ce-fdbf0c3d1620	g.chr19:36448398delT	ENST00000592518.1	+	0	244																											ACCATAACCCttttttttttt	0.498													3	6	---	---	---	---					
