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
ARHGEF10L	55160	broad.mit.edu	37	1	17942653	17942653	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:17942653C>T	uc001ban.3	+	8	950	c.791C>T	c.(790-792)gCc>gTc	p.A264V	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A225V|ARHGEF10L_uc001bao.3_Missense_Mutation_p.A225V|ARHGEF10L_uc001bap.3_Missense_Mutation_p.A225V|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.A22V|ARHGEF10L_uc001baq.3_Missense_Mutation_p.A30V|ARHGEF10L_uc010ocs.2_5'Flank|ARHGEF10L_uc001bar.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	264					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACACGGATGGCCGTGATGCGC	0.637												
WDR65	149465	broad.mit.edu	37	1	43665064	43665064	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:43665064T>A	uc021omk.1	+	8	1578	c.1432T>A	c.(1432-1434)Tcc>Acc	p.S478T	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S467T|WDR65_uc001ciq.2_Missense_Mutation_p.S478T|WDR65_uc001cip.2_Missense_Mutation_p.S478T	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	478										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTATAGTGTTCCTTTAGCAA	0.463												
COL24A1	255631	broad.mit.edu	37	1	86250051	86250051	+	Splice_Site	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:86250051T>C	uc001dlj.3	-	49	4135	c.4060_splice	c.e49-1	p.G1354_splice	COL24A1_uc001dli.3_Splice_Site_p.G490_splice|COL24A1_uc010osf.2_Splice_Site|COL24A1_uc010osd.2_Splice_Site_p.G654_splice|COL24A1_uc001dlk.3_Splice_Site|COL24A1_uc010ose.2_Splice_Site	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1354	Collagen-like 16.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGTTCACCCTATGGGTAGAA	0.453												
FCRL1	115350	broad.mit.edu	37	1	157771270	157771270	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:157771270G>A	uc001frg.3	-	5	1097	c.984C>T	c.(982-984)taC>taT	p.Y328Y	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.Y328Y|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTTGAGGCCGTAGCAAAATA	0.433												
F5	2153	broad.mit.edu	37	1	169487691	169487691	+	Missense_Mutation	SNP	G	G	A	rs118203910		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:169487691G>A	uc001ggg.1	-	22	6449	c.6304C>T	c.(6304-6306)Cgt>Tgt	p.R2102C		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2102	F5/8 type C 2.		R -> C (in FA5D; impairs both factor V secretion and activity).|R -> H (in THR-APCR).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.R2102C(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCATTCAGACGGGCACGGAAG	0.488												
CAMSAP2	23271	broad.mit.edu	37	1	200818182	200818182	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr1:200818182G>A	uc001gvl.3	+	11	2588	c.2318G>A	c.(2317-2319)cGt>cAt	p.R773H	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R762H|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R746H	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	773						cytoplasm|microtubule	protein binding										GAAAAGAGGCGTGCTATAGAA	0.448												
APBB1IP	54518	broad.mit.edu	37	10	26825091	26825091	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:26825091G>A	uc001iss.3	+	9	1310	c.989G>A	c.(988-990)cGc>cAc	p.R330H	APBB1IP_uc009xks.1_Missense_Mutation_p.R330H	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	330	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.R330C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TGGAAAAGGCGCTATTTTCTT	0.348												
HKDC1	80201	broad.mit.edu	37	10	71025477	71025477	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:71025477C>T	uc001jpf.4	+	16	2642	c.2509C>T	c.(2509-2511)Ctg>Ttg	p.L837L	HKDC1_uc010qje.2_Silent_p.L700L|HKDC1_uc009xqb.3_Non-coding_Transcript	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	837					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGTGCTGGCCTGGCCGCTAT	0.642												
TLL2	7093	broad.mit.edu	37	10	98155083	98155083	+	Silent	SNP	C	C	T	rs151335014		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr10:98155083C>T	uc001kml.2	-	12	1828	c.1587G>A	c.(1585-1587)acG>acA	p.T529T	TLL2_uc009xvf.2_Silent_p.T507T	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	529	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.T529T(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CACTCTCTTCCGTGGGGCCAT	0.527												
OR52K2	119774	broad.mit.edu	37	11	4471261	4471261	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:4471261C>A	uc001lyz.2	+	0	737	c.692C>A	c.(691-693)gCc>gAc	p.A231D		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACTGCTTGCCTCTCAGGAG	0.463												
SLC22A11	55867	broad.mit.edu	37	11	64329818	64329818	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:64329818G>A	uc001oai.3	+	3	1106	c.732G>A	c.(730-732)gcG>gcA	p.A244A	SLC22A11_uc001oah.1_Missense_Mutation_p.A210T|SLC22A11_uc009ypq.3_Silent_p.A244A|SLC22A11_uc001oak.1_Silent_p.A73A	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	244					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.A243V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCAGGCGGCGCTGGGCGGCC	0.632												
USP35	57558	broad.mit.edu	37	11	77921415	77921416	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr11:77921415_77921416insG	uc021qny.1	+	9	2870_2871	c.2514_2515insG	c.(2512-2517)gctggtfs	p.A838fs	USP35_uc001oze.2_Frame_Shift_Ins_p.A594fs|USP35_uc001ozc.3_Frame_Shift_Ins_p.A406fs|USP35_uc010rsp.2_Frame_Shift_Ins_p.A270fs|USP35_uc001ozd.3_Frame_Shift_Ins_p.A449fs|USP35_uc001ozf.3_Frame_Shift_Ins_p.A569fs	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	838					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGCCACTGGCTGGTGGCCGTGG	0.634												
KRT1	3848	broad.mit.edu	37	12	53072470	53072470	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:53072470G>T	uc001sau.1	-	1	721	c.662C>A	c.(661-663)tCc>tAc	p.S221Y	KRT1_uc001sav.1_Missense_Mutation_p.S221Y	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	221	Linker 1.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GGTTCTAGTGGAGGTATCTAC	0.468												
PMEL	6490	broad.mit.edu	37	12	56355103	56355103	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:56355103T>C	uc001sir.3	-	2	995	c.332A>G	c.(331-333)aAt>aGt	p.N111S	PMEL_uc001siq.3_Missense_Mutation_p.N111S|PMEL_uc010spx.2_Intron|PMEL_uc001sip.3_Missense_Mutation_p.N111S	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	111					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTACTCACCATTGATGATGGT	0.468												
DAO	1610	broad.mit.edu	37	12	109278787	109278787	+	Missense_Mutation	SNP	G	G	A	rs142698254		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr12:109278787G>A	uc001tnr.4	+	1	676	c.5G>A	c.(4-6)cGt>cAt	p.R2H	DAO_uc001tnq.4_Missense_Mutation_p.R2H|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	2					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GCTGCAATGCGTGTGGTGGTG	0.557												
MGA	23269	broad.mit.edu	37	15	42054376	42054376	+	Silent	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr15:42054376A>G	uc010ucy.2	+	21	7741	c.7560A>G	c.(7558-7560)aaA>aaG	p.K2520K	MGA_uc010ucz.2_Silent_p.K2311K|MGA_uc010uda.1_Silent_p.K1136K	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2481						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTTATGCAAAACAGCAAGCAC	0.383												
KIAA0556	23247	broad.mit.edu	37	16	27640063	27640063	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr16:27640063C>T	uc002dow.3	+	3	246	c.222C>T	c.(220-222)aaC>aaT	p.N74N		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	74										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTATGTCAACGGTGCCAATT	0.517												
SALL1	6299	broad.mit.edu	37	16	51173066	51173066	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr16:51173066G>A	uc021tif.1	-	1	3098	c.2776C>T	c.(2776-2778)Cat>Tat	p.H926Y	SALL1_uc021tid.1_Missense_Mutation_p.H926Y|SALL1_uc021tie.1_Missense_Mutation_p.H1023Y|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1023					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTTTGGTATGACTTCTATAG	0.408												
TP53	7157	broad.mit.edu	37	17	7578512	7578513	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:7578512_7578513delTC	uc002gim.2	-	4	611_612	c.417_418delGA	c.(415-420)aagaccfs	p.K139fs	TP53_uc002gig.1_Frame_Shift_Del_p.K139fs|TP53_uc002gih.3_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.2_Frame_Shift_Del_p.K100fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	139	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A138V(19)|p.K139N(18)|p.K139K(14)|p.A138P(14)|p.T140I(12)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.A138T(6)|p.K139fs*31(5)|p.A138fs*32(5)|p.K139fs*9(4)|p.K139_T140delKT(4)|p.C135fs*9(3)|p.K139E(3)|p.A138fs*11(3)|p.L137_W146del10(2)|p.K139Q(2)|p.K139R(2)|p.F134_T140>S(2)|p.T140fs*9(2)|p.A138_V143delAKTCPV(2)|p.K139fs*10(2)|p.T140fs*30(2)|p.K139fs*4(2)|p.N131fs*27(2)|p.Q136_K139delQLAK(2)|p.K139_C141>N(2)|p.C135_T140delCQLAKT(2)|p.K139fs*29(2)|p.K139*(2)|p.A138fs*31(1)|p.K46_T47delKT(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.K139T(1)|p.L137_A138insX(1)|p.K132_A138delKMFCQLA(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.A138del(1)|p.K139fs*11(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.A138A(1)|p.T140fs*28(1)|p.A138S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACAGGGCAGGTCTTGGCCAGTT	0.564		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
PSMC5	5705	broad.mit.edu	37	17	61908445	61908445	+	Silent	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:61908445A>G	uc002jcb.3	+	7	810	c.729A>G	c.(727-729)ccA>ccG	p.P243P	PSMC5_uc010ddy.3_Silent_p.P220P|PSMC5_uc002jcd.3_Silent_p.P235P	NM_002805	NP_002796	P62195	PRS8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.	243					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						AACATGCTCCATCTATCATCT	0.562												
SLC25A19	60386	broad.mit.edu	37	17	73274326	73274326	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr17:73274326C>T	uc002jns.4	-	3	1460	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC25A19_uc010dge.3_Missense_Mutation_p.A127T|SLC25A19_uc002jnv.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnu.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnw.4_Missense_Mutation_p.A184T|SLC25A19_uc002jnt.4_Missense_Mutation_p.A184T	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	184						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GGGAAGATGGCGATCAAGGTG	0.562												
MUC16	94025	broad.mit.edu	37	19	9026313	9026313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:9026313C>A	uc002mkp.3	-	13	36877	c.36673G>T	c.(36673-36675)Gct>Tct	p.A12225S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12227					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						AGAGGGCCAGCAGCTATAGTG	0.438												
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224939	10224939	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:10224939C>T	uc002mnc.3	+	1	851	c.650C>T	c.(649-651)cCg>cTg	p.P217L	PPAN-P2RY11_uc002mna.3_Missense_Mutation_p.P637L|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGCGGCCTGCCGCTGCTGCTC	0.701												
HOMER3	9454	broad.mit.edu	37	19	19049592	19049592	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:19049592T>C	uc002nku.2	-	1	769	c.116A>G	c.(115-117)tAt>tGt	p.Y39C	HOMER3_uc010eby.2_Missense_Mutation_p.Y39C|HOMER3_uc010ebz.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkw.2_Missense_Mutation_p.Y39C|HOMER3_uc002nkv.2_Missense_Mutation_p.Y39C	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	39	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			ATCGTAGAAATAGGAGACAGT	0.602												
ZNF430	80264	broad.mit.edu	37	19	21240178	21240178	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:21240178A>G	uc002npj.3	+	4	1245	c.1064A>G	c.(1063-1065)aAc>aGc	p.N355S	ZNF430_uc002npk.3_Missense_Mutation_p.N354S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N355S(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAAGCTTTTAACCAATCCTCA	0.388												
ZNF254	9534	broad.mit.edu	37	19	24310666	24310666	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:24310666A>G	uc002nru.3	+	3	1998	c.1864A>G	c.(1864-1866)Aga>Gga	p.R622G	ZNF254_uc010xrk.2_Missense_Mutation_p.R537G	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	622					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TAAACATAAGAGAATTCATAC	0.383												
MLL2	9757	broad.mit.edu	37	19	36212357	36212357	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:36212357G>A	uc021usv.1	+	2	2108	c.2108G>A	c.(2107-2109)aGc>aAc	p.S703N	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	834	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AACCACCTCAGCCTGCCTCGA	0.662			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
SIGLEC11	114132	broad.mit.edu	37	19	50461706	50461706	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:50461706C>A	uc010ybh.2	-	7	1576	c.1485G>T	c.(1483-1485)gaG>gaT	p.E495D	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	495					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGCTGTTCCCCTCCAGCAGCT	0.701												
ZNF665	79788	broad.mit.edu	37	19	53669083	53669083	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr19:53669083G>C	uc010eqm.1	-	3	760	c.660C>G	c.(658-660)aaC>aaG	p.N220K		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GGATTGTTAGGTTTGAACGAA	0.403												
USP34	9736	broad.mit.edu	37	2	61515873	61515873	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:61515873C>T	uc002sbe.3	-	33	4710	c.4688G>A	c.(4687-4689)gGc>gAc	p.G1563D		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1563					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTTGATTTGCCAGGCCAGGT	0.418												
KDM3A	55818	broad.mit.edu	37	2	86702031	86702031	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:86702031G>A	uc002sri.4	+	11	2184	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K	KDM3A_uc010ytj.2_Silent_p.K619K|KDM3A_uc010ytk.2_Silent_p.K567K	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	619					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ACACAGCAAAGTACATCTTGG	0.408												
TTN	7273	broad.mit.edu	37	2	179414490	179414490	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:179414490G>A	uc021vsy.1	-	286	84480	c.84255C>T	c.(84253-84255)acC>acT	p.T28085T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T21780T|TTN_uc021vta.1_Silent_p.T21713T|TTN_uc021vtb.1_Silent_p.T21588T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29012	Fibronectin type-III 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGTAGTGGGTTATGGGAG	0.448												
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma							
DOCK10	55619	broad.mit.edu	37	2	225729691	225729691	+	Silent	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr2:225729691C>A	uc010fwz.1	-	11	1610	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	DOCK10_uc002vob.2_Silent_p.G451G|DOCK10_uc002vod.1_Silent_p.G457G	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	457							GTP binding	p.G457V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCACAGAAGCCCCCAAGAGCA	0.458												
NCOA3	8202	broad.mit.edu	37	20	46271028	46271028	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr20:46271028G>T	uc002xtk.3	+	16	3413	c.3152G>T	c.(3151-3153)aGa>aTa	p.R1051I	NCOA3_uc002xtl.3_Missense_Mutation_p.R1051I|NCOA3_uc002xtn.3_Missense_Mutation_p.R1051I|NCOA3_uc010ght.2_Missense_Mutation_p.R1046I|NCOA3_uc002xtm.3_Missense_Mutation_p.R1051I|NCOA3_uc010zyc.2_Missense_Mutation_p.R846I	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1051	Interaction with CREBBP.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTGACGAAAGAGCATTATTG	0.473												
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr20:47266679C>T	uc002xtw.1	-	23	2906	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_uc002xtv.1_Silent_p.P258P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592												
SETD2	29072	broad.mit.edu	37	3	47161747	47161747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:47161747C>T	uc003cqv.3	-	2	4432	c.4346G>A	c.(4345-4347)tGg>tAg	p.W1449*	SETD2_uc003cqs.3_Nonsense_Mutation_p.W1460*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACATTCCTTCCATCGCTGTGG	0.448			"""N, F, S, Mis"""		clear cell renal carcinoma							
CCDC51	79714	broad.mit.edu	37	3	48475178	48475178	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:48475178C>T	uc003ctc.3	-	2	448	c.416G>A	c.(415-417)cGt>cAt	p.R139H	CCDC51_uc021wxn.1_Missense_Mutation_p.R30H|CCDC51_uc003ctd.3_Missense_Mutation_p.R30H	NM_024661	NP_078937	Q96ER9	CCD51_HUMAN	Homo sapiens coiled-coil domain containing 51 (CCDC51), mRNA.	139						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTGGAGACACGGTCCAAGCG	0.597												
PDZRN3	23024	broad.mit.edu	37	3	73433731	73433731	+	Silent	SNP	G	G	A	rs142044798		TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:73433731G>A	uc003dpl.1	-	9	2082	c.1986C>T	c.(1984-1986)taC>taT	p.Y662Y	PDZRN3_uc011bgh.1_Silent_p.Y319Y|PDZRN3_uc010hoe.1_Silent_p.Y360Y|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Silent_p.Y379Y|PDZRN3_uc011bgg.1_Silent_p.Y382Y	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	662							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGTACAGGCCGTAAGGGGTGG	0.657												
GCET2	257144	broad.mit.edu	37	3	111842417	111842417	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr3:111842417G>A	uc021xcl.1	-	5	613	c.428C>T	c.(427-429)gCc>gTc	p.A143V	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Missense_Mutation_p.A141V|GCET2_uc021xcm.1_Missense_Mutation_p.A126V	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	141						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						TGGGGATCGGGCATGCCTGGG	0.502												
CCDC149	91050	broad.mit.edu	37	4	24838869	24838869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr4:24838869C>T	uc003grc.3	-	5	742	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CCDC149_uc003grd.3_Intron|CCDC149_uc011bxr.2_Missense_Mutation_p.A215T|CCDC149_uc003gre.3_Missense_Mutation_p.A160T|CCDC149_uc003gra.2_Missense_Mutation_p.A88T	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	215										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				ATACACAGGGCGTCCACGTCA	0.582												
SLC4A4	8671	broad.mit.edu	37	4	72319251	72319251	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr4:72319251G>A	uc010iic.3	+	11	1479	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	SLC4A4_uc003hfy.3_Silent_p.A454A|SLC4A4_uc010iib.3_Silent_p.A454A|SLC4A4_uc003hfz.3_Silent_p.A454A|SLC4A4_uc003hgc.4_Silent_p.A410A|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.A332A|SLC4A4_uc003hgb.3_Silent_p.A410A	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	454						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGAGGAAAGCGCCATTTTTTG	0.343												
ADAMTS16	170690	broad.mit.edu	37	5	5182257	5182257	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:5182257delC	uc003jdl.3	+	3	740	c.602delC	c.(601-603)tccfs	p.S201fs	ADAMTS16_uc003jdk.1_Frame_Shift_Del_p.S201fs|ADAMTS16_uc003jdj.1_Frame_Shift_Del_p.S201fs	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	201					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCTCGCCATCCCACGTACTG	0.567												
SLCO6A1	133482	broad.mit.edu	37	5	101813473	101813473	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:101813473T>C	uc003knn.3	-	2	881	c.709A>G	c.(709-711)Act>Gct	p.T237A	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.T237A|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	237						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCTGCACAGTCTGCCCAAGG	0.393												
LARP1	23367	broad.mit.edu	37	5	154169931	154169932	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:154169931_154169932delGC	uc003lvo.3	+	1	276_277	c.252_253delGC	c.(250-255)cagcgcfs	p.Q84fs	LARP1_uc021ygh.1_5'UTR|LARP1_uc021ygi.1_Frame_Shift_Del_p.Q161fs|LARP1_uc010jie.1_5'UTR	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	161							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCTAAACAGCGCAAAGGCAG	0.520												
MGAT4B	11282	broad.mit.edu	37	5	179225986	179225986	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr5:179225986T>G	uc003mkr.3	-	9	2094	c.1330A>C	c.(1330-1332)Acc>Ccc	p.T444P	MGAT4B_uc003mkp.3_Missense_Mutation_p.T283P|MGAT4B_uc003mkq.3_Missense_Mutation_p.H204P|MGAT4B_uc003mks.3_Missense_Mutation_p.T429P|MIR1229_uc021yjg.1_5'Flank	NM_054013	NP_463459	Q9UQ53	MGT4B_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA.	429					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGCAGGGGTGAAGGCCCAG	0.627												
ZFP57	346171	broad.mit.edu	37	6	29640903	29640903	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:29640903A>G	uc011dlw.2	-	3	1136	c.985T>C	c.(985-987)Tcc>Ccc	p.S329P		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	245					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGTTCCTGGGACCTGGCCACT	0.562												
RSPO3	84870	broad.mit.edu	37	6	127471594	127471594	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:127471594T>A	uc003qas.1	+	2	603	c.313T>A	c.(313-315)Tgt>Agt	p.C105S	RSPO3_uc003qar.3_Missense_Mutation_p.C105S	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	105						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CTGTGATACCTGTTTCAACAA	0.373												
PLEKHG1	57480	broad.mit.edu	37	6	151151882	151151882	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:151151882C>T	uc011eem.1	+	14	1900	c.1812C>T	c.(1810-1812)agC>agT	p.S604S	PLEKHG1_uc011eel.1_Silent_p.S585S|PLEKHG1_uc003qny.1_Silent_p.S545S|PLEKHG1_uc003qnz.2_Silent_p.S545S	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	545					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGTTTCCCAGCCGACGGTCCC	0.517												
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	A	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr6:160157288A>T	uc003qsl.3	+	2	215	c.-7_splice	c.e2-2		WTAP_uc010kjx.3_Splice_Site|WTAP_uc003qsk.3_Splice_Site|WTAP_uc003qsn.3_Splice_Site	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.						cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318												
OR2A14	135941	broad.mit.edu	37	7	143826382	143826382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr7:143826382C>A	uc011kua.2	+	0	177	c.177C>A	c.(175-177)taC>taA	p.Y59*		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M58I(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CACCCATGTACTTCTTCCTCT	0.478												
SCARA3	51435	broad.mit.edu	37	8	27516827	27516827	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:27516827C>T	uc003xga.1	+	4	1281	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_uc003xgb.1_Silent_p.D380D	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	380					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557												
KCNU1	157855	broad.mit.edu	37	8	36663813	36663813	+	Silent	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:36663813G>A	uc010lvw.3	+	4	582	c.495G>A	c.(493-495)aaG>aaA	p.K165K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	165						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACAAGATCAAGTTCTGGCTGG	0.358												
ANGPT1	284	broad.mit.edu	37	8	108334165	108334165	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr8:108334165T>C	uc003ymn.3	-	3	1235	c.767A>G	c.(766-768)gAc>gGc	p.D256G	ANGPT1_uc011lhv.2_Missense_Mutation_p.D56G|ANGPT1_uc003ymo.3_Missense_Mutation_p.D256G|ANGPT1_uc003ymp.4_Missense_Mutation_p.D56G	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	256					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTGGACTGTGTCCATCAGCTC	0.388												
TESK1	7016	broad.mit.edu	37	9	35606965	35606965	+	Silent	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr9:35606965C>T	uc003zxa.3	+	3	858	c.522C>T	c.(520-522)cgC>cgT	p.R174R	TESK1_uc010mks.3_Missense_Mutation_p.A42V|MIR4667_uc022bgk.1_5'Flank	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	174	Protein kinase.				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)			TATTTCACCGCGACCTCACAT	0.567												
TRPM3	80036	broad.mit.edu	37	9	73230918	73230918	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chr9:73230918A>T	uc004aid.3	-	16	2640	c.2396T>A	c.(2395-2397)aTg>aAg	p.M799K	TRPM3_uc004ahu.3_Missense_Mutation_p.M629K|TRPM3_uc004ahv.3_Missense_Mutation_p.M601K|TRPM3_uc004ahw.3_Missense_Mutation_p.M671K|TRPM3_uc004ahx.3_Missense_Mutation_p.M658K|TRPM3_uc004ahy.3_Missense_Mutation_p.M661K|TRPM3_uc004ahz.3_Missense_Mutation_p.M648K|TRPM3_uc004aia.3_Missense_Mutation_p.M646K|TRPM3_uc004aib.3_Missense_Mutation_p.M636K|TRPM3_uc004aic.3_Missense_Mutation_p.M799K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	824						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGCCTGAGACATATAGGGCAT	0.418												
HSD17B10	3028	broad.mit.edu	37	X	53459205	53459205	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chrX:53459205C>T	uc004dsl.1	-	2	378	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	HSD17B10_uc004dsm.1_Missense_Mutation_p.R116Q	NM_004493	NP_004484	Q99714	HCD2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 10 (HSD17B10), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	116					branched chain family amino acid catabolic process|lipid metabolic process|tRNA processing	mitochondrial matrix|plasma membrane	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity|3-hydroxyacyl-CoA dehydrogenase activity|cholate 7-alpha-dehydrogenase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8					NADH(DB00157)	ATCAAGAACTCGCTGGAAGTC	0.507												
ATRX	546	broad.mit.edu	37	X	76944376	76944376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0221-02A-11D-2280-08	TCGA-06-0221-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d17671-d2e1-4c97-8b01-a976d5abe1d6	67c0eef0-2582-4e85-98eb-6e9d3755440d	g.chrX:76944376G>A	uc004ecp.4	-	6	761	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q139*|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q138*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q177*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q122*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	177	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGATTGACCTGTTGTCCACAA	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome