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
PLCH2	9651	broad.mit.edu	37	1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	ENST00000449969.1	+	8	1244	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*	PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592													5	64	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	ENST00000358136.3	+	19	4435	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1435					protein localization			p.N1435K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498													88	179	---	---	---	---
TGFBR3	7049	broad.mit.edu	37	1	92262994	92262994	+	Silent	SNP	A	A	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	ENST00000212355.4	-	3	561	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_ENST00000370399.2_Silent_p.P32P|TGFBR3_ENST00000525962.1_Silent_p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	32					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P32P(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552													42	96	---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000527011.1_Missense_Mutation_p.I75R|VAV3_ENST00000371846.4_Missense_Mutation_p.I10R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	75	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.I75R(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398													48	104	---	---	---	---
CACYBP	27101	broad.mit.edu	37	1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	ENST00000367681.2	+	6	1184	c.544G>A	c.(544-546)Gac>Aac	p.D182N	CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N|CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378													30	77	---	---	---	---
TDRD5	163589	broad.mit.edu	37	1	179638343	179638343	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	ENST00000444136.1	+	17	2914	c.2664T>C	c.(2662-2664)aaT>aaC	p.N888N	TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	860					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.N834N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403													69	148	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2.				blood coagulation	extracellular region		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373													36	79	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	ENST00000367282.5	+	1	309	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.P68L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672													6	45	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:217604605C>T	ENST00000366935.3	-	10	1579	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	490	G-patch.					intracellular	nucleic acid binding	p.G490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATCCCCTTGCCATCTCGTCC	0.478													6	377	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	ENST00000366497.2	+	4	1891	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	371	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L371M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547													58	129	---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	ENST00000323853.5	-	2	274	c.197A>C	c.(196-198)gAa>gCa	p.E66A	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	66						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E66A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517													41	105	---	---	---	---
SLC5A7	60482	broad.mit.edu	37	2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	ENST00000264047.2	+	5	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	164					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.S164C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468													174	372	---	---	---	---
SMARCAL1	50485	broad.mit.edu	37	2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	ENST00000357276.4	+	3	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.D83E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478									Schimke Immuno-Osseous Dysplasia				27	134	---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	ENST00000248444.5	+	19	2444	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	786	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.P786S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537													17	45	---	---	---	---
STAC	6769	broad.mit.edu	37	3	36524554	36524554	+	Silent	SNP	C	C	T	rs145962483		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	ENST00000273183.3	+	3	759	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_ENST00000457375.2_Intron|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	153					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.G153G(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562													33	90	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	ENST00000302328.3	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	SCN11A_ENST00000450244.1_Missense_Mutation_p.L507M|SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	507					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L507M(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTGGTCCAGTGATAGATTC	0.512													85	190	---	---	---	---
GBE1	2632	broad.mit.edu	37	3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	ENST00000429644.2	-	6	1383	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	247					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.A247V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338									Glycogen Storage Disease, type IV				54	111	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	ENST00000260818.6	+	25	2998	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	917							heat shock protein binding	p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303													15	153	---	---	---	---
CEP63	80254	broad.mit.edu	37	3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	ENST00000337090.3	+	7	748	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000383229.3_Missense_Mutation_p.K192T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	192					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.K192T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353													34	119	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	ENST00000282466.3	-	5	5067	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1690	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.D1690H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398													24	96	---	---	---	---
PSMD2	5708	broad.mit.edu	37	3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	858					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 regulatory particle	enzyme regulator activity|protein binding	p.K858N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	106	---	---	---	---
MASP1	5648	broad.mit.edu	37	3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000169293.6_Missense_Mutation_p.K254N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498													159	436	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194126843	194126843	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	ENST00000439040.1	-	33	4277	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_ENST00000256031.4_Silent_p.E1162E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1162					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E1162E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428													14	133	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162577600	162577600	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	ENST00000306100.5	-	7	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_ENST00000536695.1_Silent_p.T257T|FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	258	Ig-like 1.					extracellular region	calcium ion binding	p.T258T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398													18	88	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E	NM_018900.2	NP_061723.1												p.D201E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATTTGGATAGAGAAGAAA	0.453													11	121	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	ENST00000405948.2	+	7	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	703					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G703R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398													24	251	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47976509	47976509	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:47976509G>C	ENST00000543600.1	-	2	756	c.717C>G	c.(715-717)gaC>gaG	p.D239E	PTCHD4_ENST00000339488.4_Missense_Mutation_p.D256E			Q6ZW05	CF138_HUMAN	patched domain containing 4	256	SSD.					integral to membrane	hedgehog receptor activity	p.D256E(1)									TGCGCAAGCAGTCCTTCATGG	0.567													8	73	---	---	---	---
DST	667	broad.mit.edu	37	6	56341001	56341001	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	ENST00000370754.5	-	92	21716	c.21717A>G	c.(21715-21717)aaA>aaG	p.K7239K	DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000421834.2_Silent_p.K4973K|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000370788.2_Silent_p.K4864K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000361203.3_Silent_p.K6950K			Q03001	DYST_HUMAN	dystonin	7059	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.K4647K(1)|p.K7061K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATGACTTCTTTATCCTTAT	0.423													7	43	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	326					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577													60	150	---	---	---	---
OR2AE1	81392	broad.mit.edu	37	7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	ENST00000316368.2	-	1	466	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502													54	122	---	---	---	---
SERPINE1	5054	broad.mit.edu	37	7	100775170	100775170	+	Silent	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	ENST00000223095.4	+	4	677	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493													20	317	---	---	---	---
SERPINE1	5054	broad.mit.edu	37	7	100775172	100775172	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	ENST00000223095.4	+	4	679	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498													19	311	---	---	---	---
C7orf60	154743	broad.mit.edu	37	7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	ENST00000297145.4	-	2	425	c.260C>G	c.(259-261)gCa>gGa	p.A87G	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	87								p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363													49	147	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135106938	135106938	+	Silent	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	ENST00000428680.2	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V|CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	113	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V113V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348													54	128	---	---	---	---
ESYT2	57488	broad.mit.edu	37	7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	ENST00000251527.5	-	9	1218	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	413	C2 1.					integral to membrane|plasma membrane		p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433													41	323	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	ENST00000288368.4	+	20	2400	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	708	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.A708V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368													54	63	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	ENST00000251808.3	+	4	764	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	142						cytoplasm|nucleus	DNA binding	p.S142R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517													70	235	---	---	---	---
SNTB1	6641	broad.mit.edu	37	8	121554095	121554095	+	Silent	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	MTBP_ENST00000519841.1_Intron|SNTB1_ENST00000517992.1_Silent_p.G493G	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	493	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.G493G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363													10	219	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	ENST00000518448.1	+	5	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731													6	28	---	---	---	---
AGO2	27161	broad.mit.edu	37	8	141567320	141567320	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:141567320C>T	ENST00000220592.5	-	8	1006	c.894G>A	c.(892-894)caG>caA	p.Q298Q	AGO2_ENST00000519980.1_Silent_p.Q298Q	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.Q298Q(2)									GCCCGCTCTCCTGCTGCAGCG	0.592													6	286	---	---	---	---
TSTA3	7264	broad.mit.edu	37	8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	ENST00000425753.2	-	5	552	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	150					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.I150S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTGCACGTCGATCATCCTCTT	0.662													27	119	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	711931	711931	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	ENST00000382303.1	+	7	1817	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	389					negative regulation of actin filament polymerization	cytoplasm		p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577													22	68	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	ENST00000242310.4	-	1	3118	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1010					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.T1010I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458													154	334	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	ENST00000379166.2	-	11	2298	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_ENST00000345050.2_Missense_Mutation_p.A593T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000402558.2_Missense_Mutation_p.A727T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	727					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A209T(1)|p.A727T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567													134	303	---	---	---	---
SPAG6	9576	broad.mit.edu	37	10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	ENST00000376603.2	+	9	1596	c.1454A>G	c.(1453-1455)cAa>cGa	p.Q485R	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|RP11-301N24.3_ENST00000422675.1_RNA			O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348													11	124	---	---	---	---
RBP3	5949	broad.mit.edu	37	10	48390797	48390797	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	ENST00000224600.4	-	1	194	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	27	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L27L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602													23	64	---	---	---	---
ZNF518A	9849	broad.mit.edu	37	10	97918959	97918959	+	RNA	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	ENST00000534948.1	+	0	3737							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L960F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363													55	262	---	---	---	---
OR5P2	120065	broad.mit.edu	37	11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	ENST00000329434.2	-	1	469	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A147S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403													42	137	---	---	---	---
CHRDL2	25884	broad.mit.edu	37	11	74421957	74421957	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	123	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		p.I123I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622													6	54	---	---	---	---
INTS4	92105	broad.mit.edu	37	11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	ENST00000534064.1	-	2	126	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	31					snRNA processing	integrator complex	protein binding	p.T31R(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443													50	125	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92570900	92570900	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	ENST00000298047.6	+	16	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3432	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463										TCGA Ovarian(4;0.039)			32	66	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	ENST00000263468.8	+	6	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	275			S -> Y (in dbSNP:rs11225089).				protein binding	p.S275P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373													42	90	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	ENST00000392979.3	+	14	1639	c.1278G>C	c.(1276-1278)tgG>tgC	p.W426C	ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000550015.1_Missense_Mutation_p.W28C|ANO4_ENST00000392977.3_Missense_Mutation_p.W461C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	461						chloride channel complex	chloride channel activity	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433										HNSCC(74;0.22)			63	159	---	---	---	---
TMEM255B	348013	broad.mit.edu	37	13	114514745	114514745	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:114514745C>T	ENST00000375353.3	+	9	877	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1			transmembrane protein 255B									p.L284L(1)									CTCCTCTGCCCTGGCTTCGTC	0.657													39	107	---	---	---	---
PRMT5	10419	broad.mit.edu	37	14	23398392	23398392	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:23398392T>A	ENST00000397441.2	-	1	218	c.43A>T	c.(43-45)Atc>Ttc	p.I15F	PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000553897.1_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.I15F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTCCGGGATGACTAGTCTG	0.627													41	91	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	ENST00000382554.3	+	9	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1455					DNA integration	integral to membrane	DNA binding	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592													36	62	---	---	---	---
FSCB	84075	broad.mit.edu	37	14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	ENST00000340446.4	-	1	299	c.8G>T	c.(7-9)gGc>gTc	p.G3V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	3						cilium		p.G3V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413													105	274	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45639925	45639925	+	Silent	SNP	T	T	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	ENST00000267430.5	+	12	2221	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_ENST00000542564.2_Silent_p.S686S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	712					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S712S(1)		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						AGTTTTCTTCTTTACAAAATG	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				62	122	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71514563	71514563	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	ENST00000304743.2	+	22	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_ENST00000439984.3_Silent_p.L1289L|PCNX_ENST00000238570.5_Silent_p.L1400L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1400						integral to membrane		p.L1400L(1)		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)		GTTTGAAGTTGCTACGATCCT	0.373													46	233	---	---	---	---
ZNF410	57862	broad.mit.edu	37	14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428													39	105	---	---	---	---
C14orf166B	145497	broad.mit.edu	37	14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	69								p.L69M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532													27	89	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	ENST00000156471.5	-	23	2723	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	833						catalytic step 2 spliceosome	RNA binding	p.A833V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413													70	144	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185970A>C	ENST00000156471.5	-	23	2690	c.2465T>G	c.(2464-2466)gTg>gGg	p.V822G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	822						catalytic step 2 spliceosome	RNA binding	p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGGCCCACAACCTAAAA	0.393													41	123	---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	ENST00000267890.6	-	14	3115	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1003					cell death		ATP binding|protein serine/threonine kinase activity	p.L1003V(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468													13	150	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	ENST00000545554.1	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	49					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q49H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398													43	82	---	---	---	---
IGDCC3	9543	broad.mit.edu	37	15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	ENST00000327987.4	-	10	1865	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	538	Fibronectin type-III 2.							p.Q538H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657													9	22	---	---	---	---
VWA9	81556	broad.mit.edu	37	15	65890710	65890710	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65890710G>C	ENST00000395644.4	-	6	1032	c.697C>G	c.(697-699)Cct>Gct	p.P233A	VWA9_ENST00000313182.2_Missense_Mutation_p.P233A|VWA9_ENST00000569491.1_Missense_Mutation_p.P184A|VWA9_ENST00000567744.1_Missense_Mutation_p.P269A|VWA9_ENST00000420799.2_Missense_Mutation_p.P176A|VWA9_ENST00000442903.3_Missense_Mutation_p.P197A|VWA9_ENST00000431261.2_Missense_Mutation_p.P154A					von Willebrand factor A domain containing 9									p.P233A(1)									ACAACAAAAGGTTCTGGCCTG	0.363													47	100	---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	ENST00000308508.5	-	3	1888	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672													8	54	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	ENST00000268182.5	+	19	2379	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	752	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.L752Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498													63	123	---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	ENST00000330498.3	+	7	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	263					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.Y263*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGACTCCTACCACCTGCTCC	0.652													10	89	---	---	---	---
LRRC36	55282	broad.mit.edu	37	16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	477								p.W477S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463													25	238	---	---	---	---
BCL6B	255877	broad.mit.edu	37	17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	ENST00000293805.5	+	7	1194	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	368						nucleus	zinc ion binding	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577													8	103	---	---	---	---
FOXN1	8456	broad.mit.edu	37	17	26851604	26851604	+	Silent	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	ENST00000226247.2	+	2	236	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_ENST00000579795.1_Silent_p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	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	p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652													51	107	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34072056	34072056	+	Silent	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:34072056C>A	ENST00000254466.6	-	6	2487	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	GAS2L2_ENST00000587565.1_Silent_p.L804L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	820					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGCTGCCCAGCACAGCTC	0.622													5	232	---	---	---	---
CSF3	1440	broad.mit.edu	37	17	38172080	38172080	+	Silent	SNP	A	A	G			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	ENST00000331769.2	+	1	381	c.165A>G	c.(163-165)gcA>gcG	p.A55A	CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	59					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGATGGCGCAGCGCTCCAGG	0.642													5	42	---	---	---	---
ACTG1	71	broad.mit.edu	37	17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S|ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S			P63261	ACTG_HUMAN	actin, gamma 1	197					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G197S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642													39	86	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071591	9071591	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	ENST00000397910.4	-	3	16058	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285P(2)|p.P918P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522													43	118	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	ENST00000397910.4	-	3	16057	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(2)|p.P918H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517													44	117	---	---	---	---
FAM71E1	112703	broad.mit.edu	37	19	50979132	50979132	+	Silent	SNP	G	G	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	FAM71E1_ENST00000595790.1_Silent_p.D106D			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	106								p.D106D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627													12	48	---	---	---	---
BANF2	140836	broad.mit.edu	37	20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000467330.1_3'UTR|BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000377805.3_Missense_Mutation_p.H80P	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm|nucleus	DNA binding	p.H80P(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542													37	86	---	---	---	---
SLC35C2	51006	broad.mit.edu	37	20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	352					transport	integral to membrane		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642													33	135	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	ENST00000298232.7	-	17	1380	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S318C|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACATATTTCAGAGGCAATAAG	0.343													28	170	---	---	---	---
RIMBP3	85376	broad.mit.edu	37	22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_015672.1	NP_056487.1			RIMS binding protein 3									p.G943R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577													19	84	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46658215	46658215	+	Silent	SNP	G	G	T			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	ENST00000253255.5	-	1	1004	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	335	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.S335S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552													50	196	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	ENST00000287394.5	-	21	2962	c.2855delGAAGT	c.(2854-2856)gga>ga	p.G952fs	ATAD2_ENST00000521903.1_Splice_Site_p.G270fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCTGCAAAACTTCACATGAATGG	0.410													18	130	---	---	---	---
C12orf57	113246	broad.mit.edu	37	12	7053872	7053877	+	In_Frame_Del	DEL	GAGGGC	GAGGGC	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:7053872_7053877delGAGGGC	ENST00000544681.1	+	2	591_596	c.286_291delGAGGGC	c.(286-291)gagggcdel	p.EG96del	C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000540506.2_Intron			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	0										kidney(1)|large_intestine(1)	2						TGGGTCGGGAGAGGGCGCCGGATCTG	0.636											OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	13	62	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	ENST00000544455.1	+	10	1524	c.1297delA	c.(1297-1299)aacfs	p.N433fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	433					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			82	149	---	---	---	---
KLK1	3816	broad.mit.edu	37	19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	ENST00000448701.2	-	6	1730_1740	c.406_416delCCCAATAAGCC	c.(406-417)cccaataagcctfs	p.PNKP136fs	KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs			P06870	KLK1_HUMAN	kallikrein 1	238	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583													13	147	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	ENST00000400358.4	+	5	474_494	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtcctggacaaaattgtgcattac>gtc	p.LDKIVHY140del	SGSM1_ENST00000400359.4_In_Frame_Del_p.LDKIVHY140del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	140	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36	---	---	---	---
