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
CCNL2	81669	broad.mit.edu	37	1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408													23	78	---	---	---	---
ENO1	2023	broad.mit.edu	37	1	8926490	8926490	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:8926490G>T	ENST00000234590.4	-	7	634	c.515C>A	c.(514-516)cCa>cAa	p.P172Q		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	172	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		TGCACCGACTGGGAGGATCAT	0.522													6	167	---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11294298	11294298	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11294298C>A	ENST00000361445.4	-	14	2309	c.2233G>T	c.(2233-2235)Ggg>Tgg	p.G745W		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	745					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCAATCCCACTGTGCTCC	0.502													6	215	---	---	---	---
CLCN6	1185	broad.mit.edu	37	1	11889286	11889286	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11889286C>A	ENST00000312413.6	+	12	1101	c.988C>A	c.(988-990)Cac>Aac	p.H330N	CLCN6_ENST00000376496.3_Silent_p.T385T|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376487.3_Silent_p.T363T|CLCN6_ENST00000346436.6_Silent_p.T385T			P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	0					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGTAACCACCGTGGTGG	0.493													7	192	---	---	---	---
NPPB	4879	broad.mit.edu	37	1	11918865	11918865	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:11918865C>A	ENST00000376468.3	-	1	123	c.26G>T	c.(25-27)cGg>cTg	p.R9L		NM_002521.2	NP_002512.1	P16860	ANFB_HUMAN	natriuretic peptide B	9					body fluid secretion|cGMP biosynthetic process|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation	extracellular space	diuretic hormone activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CAGGAGCGCCCGGGAAGGTGC	0.652													4	99	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12567061	12567061	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:12567061G>T	ENST00000358136.3	+	69	13079	c.12949G>T	c.(12949-12951)Ggg>Tgg	p.G4317W	VPS13D_ENST00000543766.1_Missense_Mutation_p.G315W|VPS13D_ENST00000543710.1_Missense_Mutation_p.G121W|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.G4292W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4316					protein localization					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)		CAAAGACCATGGGAAGGTGTA	0.532													6	141	---	---	---	---
PADI3	51702	broad.mit.edu	37	1	17586228	17586228	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:17586228C>A	ENST00000375460.3	+	2	288	c.248C>A	c.(247-249)cCc>cAc	p.P83H		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	83					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATGAACTCCCCCAGCAATGAC	0.597													5	54	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19477100	19477100	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:19477100G>T	ENST00000375267.2	-	49	7404	c.7401C>A	c.(7399-7401)ccC>ccA	p.P2467P	UBR4_ENST00000375217.2_Silent_p.P2467P|UBR4_ENST00000375226.2_Silent_p.P2467P|UBR4_ENST00000375254.3_Silent_p.P2467P			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2467					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTCGTAGTGGGGGCAGCTG	0.532													8	156	---	---	---	---
ALPL	249	broad.mit.edu	37	1	21889689	21889689	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:21889689G>T	ENST00000374840.3	+	5	634	c.384G>T	c.(382-384)gtG>gtT	p.V128V	ALPL_ENST00000374832.1_Silent_p.V128V|ALPL_ENST00000539907.1_Silent_p.V51V|ALPL_ENST00000540617.1_Silent_p.V73V|ALPL_ENST00000425315.2_Silent_p.V128V|ALPL_ENST00000468526.1_3'UTR	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	128			V -> M (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	AGGGCACCGTGGGGGTAAGCG	0.662													5	85	---	---	---	---
RPL11	6135	broad.mit.edu	37	1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547													8	145	---	---	---	---
ZNF593	51042	broad.mit.edu	37	1	26496949	26496949	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26496949C>A	ENST00000270812.5	+	2	283	c.241C>A	c.(241-243)Cga>Aga	p.R81R	RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|ZNF593_ENST00000374266.5_Silent_p.R81R|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000444682.1_RNA			O00488	ZN593_HUMAN	zinc finger protein 593	81					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding|transcription corepressor activity|zinc ion binding	p.R81*(1)		large_intestine(4)|prostate(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCACTTCCGATCCAAAGA	0.507													6	238	---	---	---	---
CATSPER4	378807	broad.mit.edu	37	1	26524858	26524858	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:26524858C>A	ENST00000456354.2	+	6	827	c.760C>A	c.(760-762)Ctc>Atc	p.L254I		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTACACCCTCTTCATCTG	0.527													7	199	---	---	---	---
FCN3	8547	broad.mit.edu	37	1	27699642	27699642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:27699642C>A	ENST00000270879.4	-	5	383	c.378G>T	c.(376-378)gaG>gaT	p.E126D	FCN3_ENST00000354982.2_Missense_Mutation_p.E115D	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	126	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCGCCCCCCTCGGTGTCCA	0.647													6	94	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39747939	39747939	+	Silent	SNP	C	C	T	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000564288.1	+	7	1365	c.588C>T	c.(586-588)ctC>ctT	p.L196L	MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000372915.3_Silent_p.L201L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438													7	92	---	---	---	---
CDC20	991	broad.mit.edu	37	1	43825890	43825890	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:43825890G>T	ENST00000372462.1	+	5	786	c.583G>T	c.(583-585)Ggg>Tgg	p.G195W	CDC20_ENST00000310955.6_Missense_Mutation_p.G195W|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	195					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTGGAGTTCTGGGAATGTACT	0.532													6	149	---	---	---	---
KLF17	128209	broad.mit.edu	37	1	44595197	44595197	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:44595197G>T	ENST00000372299.3	+	2	312	c.254G>T	c.(253-255)gGg>gTg	p.G85V	KLF17_ENST00000476802.1_3'UTR	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	85					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTGAATGAAGGGGGGCCACAG	0.557													6	102	---	---	---	---
PLK3	1263	broad.mit.edu	37	1	45271171	45271171	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:45271171G>T	ENST00000372201.4	+	15	2001	c.1762G>T	c.(1762-1764)Ggg>Tgg	p.G588W	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	588	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAACTTCTACGGGGACCACAC	0.597													6	268	---	---	---	---
EPS15	2060	broad.mit.edu	37	1	51869093	51869093	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:51869093C>A	ENST00000371733.3	-	17	1885	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	EPS15_ENST00000396122.4_Nonsense_Mutation_p.E274*|EPS15_ENST00000371730.2_Nonsense_Mutation_p.E463*	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	597					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTTTTACCTCTTTTGAATGT	0.363			T	MLL	ALL								5	68	---	---	---	---
PODN	127435	broad.mit.edu	37	1	53540284	53540284	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:53540284C>A	ENST00000371500.3	+	6	841	c.500C>A	c.(499-501)cCa>cAa	p.P167Q	PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.P186Q|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	138					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GAAGGGCTCCCAGAGAAGGCG	0.612													7	229	---	---	---	---
DIO1	1733	broad.mit.edu	37	1	54360027	54360027	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:54360027G>T	ENST00000525202.1	+	1	144	c.144G>T	c.(142-144)acG>acT	p.T48T	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000322679.6_Silent_p.T48T|DIO1_ENST00000361921.3_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527													5	150	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94502297	94502297	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:94502297C>A	ENST00000370225.3	-	26	3947	c.3861G>T	c.(3859-3861)gcG>gcT	p.A1287A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1287					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A1287A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCACCATACCCGCAAACAGAG	0.468													5	185	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110931935	110931935	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:110931935C>A	ENST00000541986.1	-	0	226				SLC16A4_ENST00000369781.4_Missense_Mutation_p.R4M|SLC16A4_ENST00000497687.1_5'UTR|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000437429.2_De_novo_Start_OutOfFrame|SLC16A4_ENST00000472422.2_Missense_Mutation_p.R4M|SLC16A4_ENST00000369779.4_Missense_Mutation_p.R4M			O15374	MOT5_HUMAN	solute carrier family 16, member 4							integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CTTCCCCTCCCTCTTCAGCAT	0.403													6	104	---	---	---	---
KCNA3	3738	broad.mit.edu	37	1	111217125	111217125	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:111217125C>A	ENST00000369769.2	-	1	530	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	103						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGCGCTCCCCGCAGCAGTCC	0.731													4	46	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783602G>T	ENST00000427880.2	-	1	323	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647													4	74	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783762	149783762	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:149783762G>T	ENST00000427880.2	-	1	163	c.117C>A	c.(115-117)tcC>tcA	p.S39S	HIST2H2BF_ENST00000545683.1_Silent_p.S39S|HIST2H2BF_ENST00000369167.1_Silent_p.S39S|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	39					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					ACACGTAAACGGAGTAGCTCT	0.562													7	303	---	---	---	---
C1orf56	54964	broad.mit.edu	37	1	151020889	151020889	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151020889C>A	ENST00000368926.5	+	1	674	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	189						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGTCACCCTCACCCACAGCC	0.697											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	85	---	---	---	---
TDRKH	11022	broad.mit.edu	37	1	151752577	151752577	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:151752577C>A	ENST00000368822.1	-	4	904	c.271G>T	c.(271-273)Gag>Tag	p.E91*	TDRKH_ENST00000458431.2_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.E91*|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.E87*|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Nonsense_Mutation_p.E91*|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.E91*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	91	KH 1.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTACATCCTCTGTGTCCACA	0.507													7	130	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152287816	152287816	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:152287816C>A	ENST00000368799.1	-	2	152	c.117G>T	c.(115-117)aaG>aaT	p.K39N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	39	EF-hand 1.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.K39N(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGAAATTCCTTTTCCAGAA	0.328									Ichthyosis				7	184	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153748239	153748239	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:153748239G>T	ENST00000271857.2	+	1	1410	c.650G>T	c.(649-651)cGg>cTg	p.R217L	SLC27A3_ENST00000368661.3_Missense_Mutation_p.R136L|SLC27A3_ENST00000484014.1_Intron			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	136					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACGGCTCGCGGCGCTTTAGC	0.711													3	10	---	---	---	---
SH2D2A	9047	broad.mit.edu	37	1	156779038	156779038	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156779038G>T	ENST00000392306.2	-	7	1128	c.989C>A	c.(988-990)cCt>cAt	p.P330H	SH2D2A_ENST00000368198.3_Missense_Mutation_p.P302H|SH2D2A_ENST00000368199.3_Missense_Mutation_p.P320H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	320	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	p.P320H(1)|p.P330H(1)		endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGTAGGACAGGGTGCCCAAG	0.602													9	260	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156916777	156916777	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:156916777C>A	ENST00000368194.3	-	27	3558	c.2519G>T	c.(2518-2520)cGg>cTg	p.R840L	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R216L|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R800L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	800	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.R840L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCTTCCTCCCGGAGCTTCTT	0.542													5	177	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158648265	158648265	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:158648265C>A	ENST00000368147.4	-	6	918	c.738G>T	c.(736-738)tgG>tgT	p.W246C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAAGGCGCTCCCAGGCAGCAT	0.453													5	83	---	---	---	---
AXDND1	126859	broad.mit.edu	37	1	179437608	179437608	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:179437608G>A	ENST00000367618.3	+	17	2216	c.1829G>A	c.(1828-1830)aGt>aAt	p.S610N	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	610										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AGTTTGATTAGTTCTCTTGAC	0.294													4	50	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180772720	180772720	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:180772720C>A	ENST00000367590.4	+	4	618	c.420C>A	c.(418-420)ctC>ctA	p.L140L	XPR1_ENST00000367589.3_Silent_p.L140L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	140	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTTCTACCTCAGTCTAATCC	0.403													5	122	---	---	---	---
NCF2	4688	broad.mit.edu	37	1	183536470	183536470	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183536470C>A	ENST00000413720.1	-	7	863	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	NCF2_ENST00000367535.3_Missense_Mutation_p.G242W|NCF2_ENST00000418089.1_Missense_Mutation_p.G161W|NCF2_ENST00000367536.1_Missense_Mutation_p.G242W	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	242					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TGAGCCTCCCCTTCCAGAGCC	0.532													7	262	---	---	---	---
SHISA4	149345	broad.mit.edu	37	1	201860964	201860964	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:201860964C>A	ENST00000362011.6	+	5	871	c.584C>A	c.(583-585)cCg>cAg	p.P195Q	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	195	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCCTCTTACCCGGGAGCCTGA	0.577													5	158	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204433187	204433187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:204433187C>A	ENST00000367187.3	-	6	1819	c.1263G>T	c.(1261-1263)gtG>gtT	p.V421V	PIK3C2B_ENST00000424712.2_Silent_p.V421V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	421					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CAAAGTCACCCACGTCCACAT	0.542													6	149	---	---	---	---
CR1	1378	broad.mit.edu	37	1	207741321	207741321	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:207741321C>A	ENST00000367049.4	+	25	4105	c.4105C>A	c.(4105-4107)Cgc>Agc	p.R1369S	CR1_ENST00000367053.1_Missense_Mutation_p.R919S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.R919S|CR1_ENST00000367052.1_Intron|CR1_ENST00000367051.1_Missense_Mutation_p.R919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	919	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGCACCATCCGCTGCACAAG	0.542													6	200	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236180449	236180449	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:236180449C>A	ENST00000264187.6	-	10	2335	c.2253G>T	c.(2251-2253)gtG>gtT	p.V751V	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	751	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAACTTACCCACACACGTTC	0.478													7	179	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237806690	237806690	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:237806690C>A	ENST00000366574.2	+	48	7602	c.7285C>A	c.(7285-7287)Ctg>Atg	p.L2429M	RYR2_ENST00000360064.6_Missense_Mutation_p.L2427M|RYR2_ENST00000542537.1_Missense_Mutation_p.L2413M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2429	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCATTCCCCTGGGAGATTT	0.428													6	138	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072328	240072328	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:240072328G>T	ENST00000255380.4	+	5	2356	c.1577G>T	c.(1576-1578)tGg>tTg	p.W526L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	526					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAACCTTTTGGAATCTGGGC	0.483													5	83	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247013490	247013490	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:247013490C>A	ENST00000366508.1	-	33	6059	c.5923G>T	c.(5923-5925)Ggg>Tgg	p.G1975W	AHCTF1_ENST00000326225.3_Missense_Mutation_p.G1949W|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.G1940W			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1940	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACTTCTCTCCCTCTGACCCTT	0.393													6	174	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308458	248308458	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248308458G>T	ENST00000366476.1	+	1	9	c.9G>T	c.(7-9)tgG>tgT	p.W3C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCATGGCATGGGAGAATCAGA	0.413													8	283	---	---	---	---
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418													9	336	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24933958	24933958	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:24933958C>A	ENST00000405141.1	+	15	3288	c.2577C>A	c.(2575-2577)gcC>gcA	p.A859A	NCOA1_ENST00000348332.3_Silent_p.A859A|NCOA1_ENST00000395856.3_Silent_p.A859A|NCOA1_ENST00000407230.1_Silent_p.A708A|NCOA1_ENST00000406961.1_Silent_p.A859A|NCOA1_ENST00000288599.5_Silent_p.A859A|NCOA1_ENST00000538539.1_Silent_p.A859A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	859	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCCACTGCCAGACCCACTT	0.468			T	PAX3	alveolar rhadomyosarcoma								4	41	---	---	---	---
CAD	790	broad.mit.edu	37	2	27446507	27446507	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27446507G>T	ENST00000264705.4	+	7	1048	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	CAD_ENST00000403525.1_Missense_Mutation_p.G296W	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	296	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCAGAACCATGGGTTTGCTGT	0.557													7	254	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29296096	29296096	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:29296096G>T	ENST00000331664.5	-	1	1031	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	344					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CAGAGCATAAGGGGAGACCCT	0.602													7	92	---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37455747	37455747	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:37455747G>T	ENST00000234170.5	-	2	734	c.589C>A	c.(589-591)Cag>Aag	p.Q197K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	197					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCCTGAGGCTGGGGTTTCAAA	0.388													5	104	---	---	---	---
VRK2	7444	broad.mit.edu	37	2	58359012	58359012	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:58359012C>A	ENST00000435505.2	+	12	1491	c.746C>A	c.(745-747)cCc>cAc	p.P249H	VRK2_ENST00000340157.4_Missense_Mutation_p.P249H|VRK2_ENST00000440705.2_Missense_Mutation_p.P226H|VRK2_ENST00000417641.2_Missense_Mutation_p.P249H|VRK2_ENST00000412104.2_Missense_Mutation_p.P249H			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	249	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GGGAAACTTCCCTGGGAACAG	0.468													7	75	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69002503	69002503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:69002503G>T	ENST00000295381.3	+	2	631	c.212G>T	c.(211-213)aGg>aTg	p.R71M	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.R71M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.R64M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.R71M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.R45M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.R64M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	71	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTTGTGCTGAGGGCGCAGCAG	0.592													7	194	---	---	---	---
DGUOK	1716	broad.mit.edu	37	2	74177856	74177856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74177856C>A	ENST00000264093.4	+	4	673	c.588C>A	c.(586-588)ccC>ccA	p.P196P	DGUOK_ENST00000356837.6_Silent_p.P174P|DGUOK_ENST00000462685.1_3'UTR|DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	196					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	p.P196P(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						AGGCTTCTCCCCAGGTAACAC	0.473													7	228	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74718660	74718660	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:74718660G>T	ENST00000410003.1	+	8	746	c.737G>T	c.(736-738)gGg>gTg	p.G246V	TTC31_ENST00000233623.5_Missense_Mutation_p.G246V|TTC31_ENST00000442235.2_Missense_Mutation_p.G102V|TTC31_ENST00000463189.1_3'UTR			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	246							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CGCAAGGTTGGGGATTGGCCC	0.552													8	310	---	---	---	---
IGKV1-6	28943	broad.mit.edu	37	2	89266205	89266205	+	RNA	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89266205G>T	ENST00000464162.1	-	0	81																											ATCCTTACCTGGGAGCCAGAG	0.557													7	231	---	---	---	---
IGKV2-30	28919	broad.mit.edu	37	2	89544388	89544388	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:89544388C>A	ENST00000468494.1	-	0	265																											CCCAGAGTCCCGGTTAGAAAC	0.498													6	234	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128463962	128463962	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:128463962C>A	ENST00000322313.4	-	22	4104	c.3946G>T	c.(3946-3948)Ggg>Tgg	p.G1316W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGTTACTCCCTCTACCCCAG	0.617													7	196	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130832650	130832650	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:130832650C>A	ENST00000357462.5	-	15	2488	c.2395G>T	c.(2395-2397)Gag>Tag	p.E799*	POTEF_ENST00000409914.2_Nonsense_Mutation_p.E799*			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	799	Actin-like.					cell cortex	ATP binding	p.E799K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGCTCCTCGGGAGCCACA	0.577													6	165	---	---	---	---
MCM6	4175	broad.mit.edu	37	2	136626319	136626319	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:136626319C>A	ENST00000264156.2	-	4	537	c.477G>T	c.(475-477)ttG>ttT	p.L159F		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	159					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTGACAGTCCAAGCACAGAA	0.502													6	122	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152404242	152404242	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:152404242C>A	ENST00000427231.2	-	132	20370	c.20168G>T	c.(20167-20169)cGg>cTg	p.R6723L	NEB_ENST00000604864.1_Missense_Mutation_p.R6723L|NEB_ENST00000409198.1_Missense_Mutation_p.R5022L|NEB_ENST00000172853.10_Missense_Mutation_p.R5022L|NEB_ENST00000603639.1_Missense_Mutation_p.R6723L|NEB_ENST00000397345.3_Missense_Mutation_p.R6723L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5022					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTACAATTCCCGATACAGTCT	0.438													3	24	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162751333	162751333	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:162751333C>A	ENST00000375514.5	+	11	1569	c.1282C>A	c.(1282-1284)Cag>Aag	p.Q428K	SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q447K|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q417K|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q417K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q447K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	447					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGTTCCTTCCCAGGTATGTAT	0.303													5	114	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168098403	168098403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:168098403C>A	ENST00000409195.1	+	8	1248	c.1159C>A	c.(1159-1161)Cca>Aca	p.P387T	XIRP2_ENST00000409756.2_Missense_Mutation_p.P387T|XIRP2_ENST00000409605.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409043.1_Missense_Mutation_p.P387T|XIRP2_ENST00000295237.9_Missense_Mutation_p.P387T|XIRP2_ENST00000409273.1_Missense_Mutation_p.P165T|XIRP2_ENST00000409728.1_Missense_Mutation_p.P420T|XIRP2_ENST00000420519.1_Missense_Mutation_p.P420T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	212					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGACAACCCCAGCCAAGCA	0.353													7	139	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179463879	179463879	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179463879G>T	ENST00000589042.1	-	290	56865	c.56641C>A	c.(56641-56643)Ctc>Atc	p.L18881I	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L16313I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9941I|TTN_ENST00000342175.6_Missense_Mutation_p.L10008I|TTN_ENST00000591111.1_Missense_Mutation_p.L17240I|TTN_ENST00000460472.2_Missense_Mutation_p.L9816I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17240	Ig-like 107.		R -> K (in a metastatic melanoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACAGAAGAGGTTTCTTGCT	0.353													8	360	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497435	179497435	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:179497435C>A	ENST00000589042.1	-	235	43522	c.43298G>T	c.(43297-43299)aGg>aTg	p.R14433M	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R11865M|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R5493M|TTN_ENST00000342175.6_Missense_Mutation_p.R5560M|TTN_ENST00000591111.1_Missense_Mutation_p.R12792M|TTN_ENST00000460472.2_Missense_Mutation_p.R5368M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12792	Fibronectin type-III 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGGCTCCCTGGATACTTC	0.423													7	226	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197878372	197878372	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:197878372C>A	ENST00000328737.2	-	18	1788	c.1712G>T	c.(1711-1713)aGg>aTg	p.R571M	ANKRD44_ENST00000337207.5_Missense_Mutation_p.R571M|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R571M|ANKRD44_ENST00000282272.8_Missense_Mutation_p.R588M			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	596							protein binding	p.R411M(1)|p.R571M(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTTCTCATCCCTGATGTCCAG	0.517													8	230	---	---	---	---
C2orf80	389073	broad.mit.edu	37	2	209047698	209047698	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:209047698C>A	ENST00000341287.4	-	4	392	c.197G>T	c.(196-198)tGg>tTg	p.W66L	C2orf80_ENST00000451346.1_Missense_Mutation_p.W47L|C2orf80_ENST00000453017.1_Missense_Mutation_p.W66L	NM_001099334.2	NP_001092804	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	66										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAGTTCCTCCCACTCCAGCCA	0.453													7	207	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212426647	212426647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:212426647C>A	ENST00000342788.4	-	20	2778	c.2468G>T	c.(2467-2469)tGg>tTg	p.W823L	ERBB4_ENST00000402597.1_Missense_Mutation_p.W813L|ERBB4_ENST00000436443.1_Missense_Mutation_p.W823L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	823	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGGACACACCAGTTAAGCAG	0.408										TSP Lung(8;0.080)			6	182	---	---	---	---
PNKD	25953	broad.mit.edu	37	2	219136176	219136176	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:219136176C>A	ENST00000273077.4	+	2	191	c.140C>A	c.(139-141)cCa>cAa	p.P47Q	PNKD_ENST00000472650.1_3'UTR|PNKD_ENST00000248451.3_Missense_Mutation_p.P47Q	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	47				P -> S (in Ref. 9; AAH36457).		membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGCTCCCCAGAGGGCAAG	0.572													5	91	---	---	---	---
NYAP2	57624	broad.mit.edu	37	2	226446710	226446710	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:226446710C>A	ENST00000272907.6	+	4	990	c.577C>A	c.(577-579)Ccc>Acc	p.P193T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	193																	GATTCCTCCTCCCAAACCGAA	0.478													7	206	---	---	---	---
ALPP	250	broad.mit.edu	37	2	233245442	233245442	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233245442C>A	ENST00000392027.2	+	8	1244	c.975C>A	c.(973-975)ccC>ccA	p.P325P	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	325						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCAGGAACCCCCGCGGCTTCT	0.647													5	58	---	---	---	---
KCNJ13	3769	broad.mit.edu	37	2	233635818	233635818	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:233635818C>A	ENST00000233826.3	-	2	394	c.255G>T	c.(253-255)ctG>ctT	p.L85L	GIGYF2_ENST00000409547.1_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000409779.1_Intron|KCNJ13_ENST00000410029.1_Silent_p.L85L|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409480.1_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	85						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GATCTAGTTCCAGATCACCAT	0.468													5	125	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234113040	234113040	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234113040C>A	ENST00000359570.5	+	28	3208	c.3208C>A	c.(3208-3210)Cgg>Agg	p.R1070R	INPP5D_ENST00000450745.1_Silent_p.R834R|INPP5D_ENST00000455936.2_Silent_p.R834R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCGCGCCCCGGCTGCGCTC	0.726													3	16	---	---	---	---
UGT1A4	54657	broad.mit.edu	37	2	234628279	234628279	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:234628279C>A	ENST00000373409.3	+	1	856	c.813C>A	c.(811-813)ccC>ccA	p.P271P	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CGATCATGCCCAACATGGTCT	0.512													7	181	---	---	---	---
RBM44	375316	broad.mit.edu	37	2	238738070	238738070	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:238738070C>A	ENST00000316997.4	+	13	2946	c.2814C>A	c.(2812-2814)tcC>tcA	p.S938S	RBM44_ENST00000409864.1_Silent_p.S938S	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	937							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAGAATTCTCCATTTCTAGAT	0.413													7	150	---	---	---	---
ARPC4	10093	broad.mit.edu	37	3	9845526	9845526	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:9845526G>T	ENST00000397261.3	+	5	894		c.e5-1		ARPC4_ENST00000287613.7_Splice_Site|ARPC4_ENST00000433034.1_Splice_Site|ARPC4_ENST00000498623.2_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Intron	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					TTCTTCCCTAGGGGTATGATA	0.483													7	205	---	---	---	---
SGOL1	151648	broad.mit.edu	37	3	20219789	20219789	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:20219789G>T	ENST00000412997.1	-	4	741	c.390C>A	c.(388-390)tcC>tcA	p.S130S	SGOL1_ENST00000442720.1_Silent_p.S130S|SGOL1_ENST00000421451.1_Silent_p.S130S|SGOL1_ENST00000419233.2_Silent_p.S130S|SGOL1_ENST00000263753.4_Silent_p.S130S|SGOL1_ENST00000306698.2_Silent_p.S130S|SGOL1_ENST00000429446.3_Silent_p.S130S|SGOL1_ENST00000417364.1_Silent_p.S130S|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Silent_p.S130S|SGOL1_ENST00000437051.1_Silent_p.S130S|SGOL1_ENST00000425061.1_Silent_p.S130S|SGOL1_ENST00000412868.1_Silent_p.S130S|SGOL1_ENST00000452020.1_Silent_p.S130S|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000443724.1_Silent_p.S130S	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	130	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ATAAATTTCTGGAGCTGTCAT	0.303													5	100	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38968409	38968409	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:38968409C>A	ENST00000450244.1	-	4	700	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	SCN11A_ENST00000302328.3_Missense_Mutation_p.G168W|SCN11A_ENST00000456224.3_Missense_Mutation_p.G168W|SCN11A_ENST00000444237.2_Missense_Mutation_p.G168W			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	168					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			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)	ATATAAATCCCAGTGAAGACA	0.363													6	101	---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42251446	42251446	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:42251446C>A	ENST00000327628.5	+	14	2332	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	TRAK1_ENST00000396175.1_Silent_p.T586T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T586T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	644					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						GCCTAGCTACCTCCACTCCAG	0.567													5	70	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49691124	49691124	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49691124G>T	ENST00000296452.4	+	5	4249	c.4135G>T	c.(4135-4137)Ggg>Tgg	p.G1379W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1379					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAGGGCCCTGGGACCCCAGC	0.622													5	103	---	---	---	---
APEH	327	broad.mit.edu	37	3	49714355	49714355	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:49714355C>A	ENST00000296456.5	+	10	1297	c.897C>A	c.(895-897)tcC>tcA	p.S299S	APEH_ENST00000438011.1_Silent_p.S299S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	299					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGGATGACTCCCTGGCTGTCT	0.592													7	117	---	---	---	---
ARF4	378	broad.mit.edu	37	3	57558024	57558024	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:57558024C>A	ENST00000303436.6	-	6	725	c.458G>T	c.(457-459)tGg>tTg	p.W153L	ARF4_ENST00000489843.1_Splice_Site_p.W44L|ARF4_ENST00000496292.1_Splice_Site_p.W126L	NM_001660.3	NP_001651.1	P18085	ARF4_HUMAN	ADP-ribosylation factor 4	153					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		TTGAACATACCACTGTAAAGA	0.343													6	157	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62267307	62267307	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:62267307C>A	ENST00000474889.1	+	27	4212	c.3835C>A	c.(3835-3837)Ctt>Att	p.L1279I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.L1250I|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1279	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TACCGTCACCCTTATCAGCAA	0.418													5	98	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:78696802G>T	ENST00000436010.2	-	18	3696	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343													7	395	---	---	---	---
BTLA	151888	broad.mit.edu	37	3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398													46	75	---	---	---	---
GTPBP8	29083	broad.mit.edu	37	3	112710070	112710070	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112710070C>A	ENST00000383677.3	+	1	239	c.224C>A	c.(223-225)cCg>cAg	p.P75Q	GTPBP8_ENST00000383678.2_Missense_Mutation_p.P75Q	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	75					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GACCCAAGCCCGGAGGACATA	0.622													4	58	---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113507718	113507718	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:113507718C>A	ENST00000273398.3	+	7	983	c.875C>A	c.(874-876)cCa>cAa	p.P292Q	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.P259Q	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	292					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGACTTCCCAGAGGTCTGT	0.388													5	88	---	---	---	---
DZIP1L	199221	broad.mit.edu	37	3	137796416	137796416	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:137796416G>T	ENST00000327532.2	-	11	1709	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Silent_p.P449P	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	449						intracellular	zinc ion binding	p.P449P(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TCAGCAAAGTGGGGTTACGCC	0.532													6	153	---	---	---	---
MFSD1	64747	broad.mit.edu	37	3	158541297	158541297	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:158541297G>T	ENST00000415822.2	+	12	1446	c.1305G>T	c.(1303-1305)ctG>ctT	p.L435L	MFSD1_ENST00000392813.4_Silent_p.L396L|MFSD1_ENST00000264266.8_Silent_p.L386L	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	386					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACATCAGCTGGGAACTGCAT	0.418													7	150	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	105	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	56	---	---	---	---
FAM131A	131408	broad.mit.edu	37	3	184059793	184059793	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184059793C>A	ENST00000310585.4	+	1	1536	c.172C>A	c.(172-174)Ctg>Atg	p.L58M	FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000453072.1_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	58						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTCCACCTCCCTGCACCTGTG	0.582													7	192	---	---	---	---
CHRD	8646	broad.mit.edu	37	3	184102330	184102330	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:184102330G>T	ENST00000204604.1	+	13	1692	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.V482V|CHRD_ENST00000545352.1_Silent_p.V112V|CHRD_ENST00000348986.3_Silent_p.V442V	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	482	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCAGGCCGTGGGTATCTGCC	0.602													7	213	---	---	---	---
HES1	3280	broad.mit.edu	37	3	193855647	193855647	+	Silent	SNP	C	C	A	rs144918671		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:193855647C>A	ENST00000232424.3	+	4	704	c.468C>A	c.(466-468)ccC>ccA	p.P156P		NM_005524.3	NP_005515.1	Q14469	HES1_HUMAN	hes family bHLH transcription factor 1	156	Pro-rich.				endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TGACCTACCCCGGGCAGCCGC	0.731													4	68	---	---	---	---
ADD1	118	broad.mit.edu	37	4	2929962	2929962	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:2929962C>A	ENST00000264758.7	+	15	2207	c.2019C>A	c.(2017-2019)ccC>ccA	p.P673P	ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398129.1_Silent_p.P642P|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000446856.1_Silent_p.P642P	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN	adducin 1 (alpha)	642					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAACTCTCCCCGATCTGTCCC	0.562													9	317	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38016162	38016162	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:38016162G>T	ENST00000261439.4	+	3	805	c.450G>T	c.(448-450)gcG>gcT	p.A150A	TBC1D1_ENST00000508802.1_Silent_p.A150A	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	150						nucleus	Rab GTPase activator activity	p.A150A(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCGTCAGGCGGGGAAGATCG	0.597													5	148	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69520828	69520828	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:69520828G>T	ENST00000338206.5	-	4	1087	c.1078C>A	c.(1078-1080)Cag>Aag	p.Q360K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	360					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGGTCATTCTGGGGTAACCAC	0.358													7	253	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77675725	77675725	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:77675725C>A	ENST00000296043.6	+	7	5042	c.4089C>A	c.(4087-4089)ccC>ccA	p.P1363P		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1363					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGCCATTCCCTCTGGCTACT	0.642													5	59	---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78647404	78647404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:78647404C>A	ENST00000504123.1	-	11	1502	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	CNOT6L_ENST00000264903.4_Missense_Mutation_p.G458W			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	458					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GTGATTCTCCCTTCTGAGCTT	0.418													7	314	---	---	---	---
MTTP	4547	broad.mit.edu	37	4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000457717.1	+	3	441	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTCCTCCAACGTGGATGTG	0.463													32	103	---	---	---	---
SLC9B2	133308	broad.mit.edu	37	4	103979095	103979095	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:103979095C>A	ENST00000394785.3	-	4	936	c.305G>T	c.(304-306)tGg>tTg	p.W102L	SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.W102L|SLC9B2_ENST00000362026.3_Missense_Mutation_p.W102L	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	102					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										AGTAATTGACCAAACTACAGC	0.363													7	221	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126319956	126319956	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:126319956G>T	ENST00000394329.3	+	2	5206	c.5193G>T	c.(5191-5193)caG>caT	p.Q1731H	FAT4_ENST00000335110.5_Missense_Mutation_p.Q29H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1731	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAACACTTCAGGATATCAATG	0.428													6	126	---	---	---	---
CPE	1363	broad.mit.edu	37	4	166405652	166405652	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:166405652C>A	ENST00000402744.4	+	5	1149	c.869C>A	c.(868-870)cCg>cAg	p.P290Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.P290Q(2)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTCAACCCGGCCATGTCT	0.512													9	437	---	---	---	---
CLCN3	1182	broad.mit.edu	37	4	170613387	170613387	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:170613387C>A	ENST00000513761.1	+	7	1411	c.852C>A	c.(850-852)ccC>ccA	p.P284P	CLCN3_ENST00000360642.3_Silent_p.P284P|CLCN3_ENST00000347613.4_Silent_p.P284P|CLCN3_ENST00000504131.2_Silent_p.P267P	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	284					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AAGAAGGTCCCCTGGTACATG	0.403													8	215	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	825296	825296	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:825296C>A	ENST00000283441.8	-	8	1389	c.1006G>T	c.(1006-1008)Ggg>Tgg	p.G336W	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G336W	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	336						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GTCGAATCCCCATCCTGGTTT	0.547													7	135	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090293	32090293	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:32090293C>A	ENST00000438447.1	+	20	7127	c.6739C>A	c.(6739-6741)Cgg>Agg	p.R2247R	PDZD2_ENST00000282493.3_Silent_p.R2247R			O15018	PDZD2_HUMAN	PDZ domain containing 2	2247			R -> Q (in dbSNP:rs10066063).		cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGTCGCTCTCGGGACAGCCA	0.602													6	261	---	---	---	---
GHR	2690	broad.mit.edu	37	5	42719419	42719419	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:42719419C>A	ENST00000230882.4	+	10	2000	c.1810C>A	c.(1810-1812)Cca>Aca	p.P604T	GHR_ENST00000537449.1_Missense_Mutation_p.P417T|GHR_ENST00000357703.3_Missense_Mutation_p.P582T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	604					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTACAGTCCCCACAGGGCCT	0.502													5	55	---	---	---	---
BDP1	55814	broad.mit.edu	37	5	70754459	70754459	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:70754459C>A	ENST00000358731.4	+	2	529	c.266C>A	c.(265-267)tCt>tAt	p.S89Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	89	Interaction with ZBTB43.|Ser-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AGATCTTCCTCTACTGTTTCA	0.363													7	147	---	---	---	---
ANKRD34B	340120	broad.mit.edu	37	5	79855162	79855162	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:79855162G>T	ENST00000338682.3	-	5	1349	c.677C>A	c.(676-678)cCa>cAa	p.P226Q		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	226						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AGGGGAACCTGGGTCCCAGGT	0.527													6	60	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722222	137722222	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:137722222C>A	ENST00000314358.5	+	7	1492	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.P87Q	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	431					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGCTCCACCCCAAACACAGTG	0.572													7	93	---	---	---	---
CCDC69	26112	broad.mit.edu	37	5	150565077	150565077	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:150565077C>A	ENST00000355417.2	-	7	695	c.521G>T	c.(520-522)tGg>tTg	p.W174L	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	174										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCTGCTCCCAGAACTGGCT	0.532													6	154	---	---	---	---
LCP2	3937	broad.mit.edu	37	5	169697882	169697882	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr5:169697882C>A	ENST00000046794.5	-	7	979	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	122					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TCATCCTCCCCATCCTGGTCA	0.547													4	38	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	397178	397178	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:397178C>A	ENST00000380956.4	+	5	689	c.563C>A	c.(562-564)cCg>cAg	p.P188Q	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	188					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGCCACACCCGGAAATCCCG	0.562			T	IGH@	MM								6	163	---	---	---	---
TDP2	51567	broad.mit.edu	37	6	24667063	24667063	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:24667063C>A	ENST00000378198.4	-	1	198	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	TDP2_ENST00000545995.1_Missense_Mutation_p.G40W			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	10					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GCCTCCCTCCCGCCCTCCAGG	0.667								Direct reversal of damage					5	217	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31124678	31124678	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31124678G>T	ENST00000396268.3	-	3	515	c.327C>A	c.(325-327)ccC>ccA	p.P109P	CCHCR1_ENST00000396263.2_Silent_p.P20P|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Silent_p.P20P|CCHCR1_ENST00000480060.1_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	20			R -> W (in allele HCR*WWCC; associated with psoriasis; dbSNP:rs130076).		cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAGTTGAAAGGGGCCGAGCTT	0.552													6	79	---	---	---	---
SLC44A4	80736	broad.mit.edu	37	6	31833153	31833153	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31833153C>A	ENST00000544672.1	-	17	1767	c.1471G>T	c.(1471-1473)Ggg>Tgg	p.G491W	SLC44A4_ENST00000229729.6_Missense_Mutation_p.G567W|SLC44A4_ENST00000375562.4_Missense_Mutation_p.G525W	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	567						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	AAATTCTTCCCGTAGATGGCG	0.547													6	172	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31929348	31929348	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:31929348C>A	ENST00000375394.2	+	9	927	c.814C>A	c.(814-816)Cca>Aca	p.P272T	SKIV2L_ENST00000544581.1_Missense_Mutation_p.P79T	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	272						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGTATCCACCCCAGAGGCCCC	0.567													6	111	---	---	---	---
CYP21A2	1589	broad.mit.edu	37	6	32007917	32007917	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:32007917G>T	ENST00000418967.2	+	7	1032	c.874G>T	c.(874-876)Ggt>Tgt	p.G292C	CYP21A2_ENST00000435122.2_Missense_Mutation_p.G262C	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	291			G -> D (in AH3; salt wasting form; less then 1% activity).		glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CCTCCTGATCGGTGGCACTGA	0.607													7	329	---	---	---	---
PEX6	5190	broad.mit.edu	37	6	42933787	42933787	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:42933787C>A	ENST00000304611.8	-	12	2426	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L	PEX6_ENST00000244546.4_Intron	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	786					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CTCACCTTCCCGCACATTCTC	0.577													7	186	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43166474	43166474	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43166474C>A	ENST00000252050.4	+	12	3015	c.2931C>A	c.(2929-2931)ccC>ccA	p.P977P	CUL9_ENST00000372647.2_Silent_p.P977P|CUL9_ENST00000354495.3_Silent_p.P867P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	977					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGGGCAGCCCCGGAGGTGCCG	0.642													5	162	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43174217	43174217	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43174217C>A	ENST00000252050.4	+	26	5265	c.5181C>A	c.(5179-5181)gcC>gcA	p.A1727A	CUL9_ENST00000372647.2_Silent_p.A1727A|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Silent_p.A1617A	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCTGTGATGCCCTTGACCGTT	0.542													6	74	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43316169	43316169	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:43316169G>T	ENST00000361428.2	-	6	3042	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	ZNF318_ENST00000318149.3_Missense_Mutation_p.Q989K	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	989					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.Q989K(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGACTTCTGGGATTTATCG	0.448													7	248	---	---	---	---
TNFRSF21	27242	broad.mit.edu	37	6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478													45	120	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83754301	83754301	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:83754301G>T	ENST00000369747.3	-	4	565	c.443C>A	c.(442-444)cCc>cAc	p.P148H		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	148						cytoplasm	ligase activity										ATTAGCAAAGGGGTCAGGATG	0.453													8	257	---	---	---	---
CYB5R4	51167	broad.mit.edu	37	6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.5	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4		FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358													15	20	---	---	---	---
NUS1	116150	broad.mit.edu	37	6	118015306	118015306	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:118015306C>A	ENST00000368494.3	+	3	823	c.654C>A	c.(652-654)ccC>ccA	p.P218P		NM_138459.3	NP_612468.1	Q96E22	NGBR_HUMAN	nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)	218					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		AAAAGAGACCCACAGATTTGG	0.368													5	102	---	---	---	---
HEY2	23493	broad.mit.edu	37	6	126080848	126080848	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:126080848C>A	ENST00000368364.3	+	5	1111	c.914C>A	c.(913-915)cCg>cAg	p.P305Q	HEY2_ENST00000368365.1_Missense_Mutation_p.P259Q	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	305					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCATCAGCCCGCCCTTGTCA	0.597													6	189	---	---	---	---
TAAR1	134864	broad.mit.edu	37	6	132966571	132966571	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:132966571C>A	ENST00000275216.1	-	1	571	c.572G>T	c.(571-573)gGg>gTg	p.G191V		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	191						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	GGTCAGTACCCCAGATATTTT	0.348													6	114	---	---	---	---
TCF21	6943	broad.mit.edu	37	6	134212883	134212883	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:134212883G>T	ENST00000367882.4	+	2	743	c.483G>T	c.(481-483)gaG>gaT	p.E161D	TCF21_ENST00000237316.3_Missense_Mutation_p.E161D|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	161					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		GGAAACCCGAGAGTGACCTGA	0.657													4	39	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755622	146755622	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:146755622C>A	ENST00000361719.2	+	9	3745	c.3275C>A	c.(3274-3276)cCg>cAg	p.P1092Q	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.P1092Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1092					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGTCTCCCCGCCCGCGGAC	0.652													5	128	---	---	---	---
EZR	7430	broad.mit.edu	37	6	159190925	159190925	+	Missense_Mutation	SNP	C	C	A	rs142824813	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:159190925C>A	ENST00000367075.3	-	11	1310	c.1142G>T	c.(1141-1143)cGg>cTg	p.R381L	EZR_ENST00000392177.4_Missense_Mutation_p.R349L|EZR_ENST00000337147.7_Missense_Mutation_p.R381L	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	381	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CTCCTGTGCCCGCTTCCTCTC	0.612			T	ROS1	NSCLC								4	128	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165895804	165895804	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:165895804C>A	ENST00000366882.1	-	4	348	c.194G>T	c.(193-195)aGg>aTg	p.R65M	PDE10A_ENST00000354448.4_Splice_Site_p.R65M|PDE10A_ENST00000539869.2_Splice_Site_p.R75M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	65					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATCACTTACCCTGCTGACTTC	0.348													6	145	---	---	---	---
GNA12	2768	broad.mit.edu	37	7	2771007	2771007	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:2771007C>A	ENST00000275364.3	-	4	1116	c.954G>T	c.(952-954)agG>agT	p.R318S	GNA12_ENST00000407653.1_Missense_Mutation_p.R242S|GNA12_ENST00000396960.3_Missense_Mutation_p.R170S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000407904.3_Missense_Mutation_p.R259S|GNA12_ENST00000544127.1_Missense_Mutation_p.R225S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	318					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GCGGGTCGCCCCTGAAGTCCG	0.567													6	76	---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6080676	6080676	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:6080676G>T	ENST00000199389.6	-	9	1112	c.966C>A	c.(964-966)acC>acA	p.T322T	EIF2AK1_ENST00000495565.1_5'UTR|EIF2AK1_ENST00000536084.1_Silent_p.T198T	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	322	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGAGCTCCAGGGTCGACTCAA	0.458													8	178	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000406451.4	+	23	3019	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y|HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423													18	220	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764231	82764231	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:82764231G>T	ENST00000333891.9	-	3	2972	c.2635C>A	c.(2635-2637)Cct>Act	p.P879T	PCLO_ENST00000423517.2_Missense_Mutation_p.P879T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGTGGGCCAGGGGGTGTTGGT	0.522													9	371	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000394507.1	-	9	1360	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393													7	103	---	---	---	---
COL1A2	1278	broad.mit.edu	37	7	94037158	94037158	+	Splice_Site	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)			5	27	---	---	---	---
MCM7	4176	broad.mit.edu	37	7	99691010	99691010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:99691010C>A	ENST00000303887.5	-	14	2508	c.1863G>T	c.(1861-1863)atG>atT	p.M621I	MCM7_ENST00000354230.3_Missense_Mutation_p.M445I|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	621	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACATCCACCATTCTCAGAC	0.537													6	175	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100683342	100683342	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:100683342C>A	ENST00000306151.4	+	3	8709	c.8645C>A	c.(8644-8646)gCc>gAc	p.A2882D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2882	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACGCCGGTGGCCAGTTCTGAG	0.483													10	463	---	---	---	---
GCC1	79571	broad.mit.edu	37	7	127225212	127225212	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:127225212C>A	ENST00000321407.2	-	1	449	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	9						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCCGCCCCCGAAATTCATC	0.592											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	100	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133812132	133812132	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:133812132C>A	ENST00000285928.2	+	1	81	c.12C>A	c.(10-12)tcC>tcA	p.S4S	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	4							ATP binding|kinase activity	p.S4S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TGGCGACCTCCGAGAGGGCTC	0.612													5	140	---	---	---	---
OR2A12	346525	broad.mit.edu	37	7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522													80	216	---	---	---	---
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000004103.3_Silent_p.P164P|TMEM176A_ENST00000461345.1_Silent_p.P105P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537													5	87	---	---	---	---
TMUB1	83590	broad.mit.edu	37	7	150779390	150779390	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:150779390C>A	ENST00000392818.3	-	2	618	c.261G>T	c.(259-261)acG>acT	p.T87T	TMUB1_ENST00000462940.1_Silent_p.T87T|TMUB1_ENST00000476627.1_Silent_p.T87T|TMUB1_ENST00000482202.1_Silent_p.T87T|TMUB1_ENST00000297533.4_Silent_p.T87T	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	87						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGTGAACCCCGTGCTGGGCT	0.657													6	214	---	---	---	---
MFHAS1	9258	broad.mit.edu	37	8	8748567	8748567	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:8748567C>A	ENST00000276282.6	-	1	2588	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	668										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AAATGCAGTTCCTCCAGCACC	0.612													4	17	---	---	---	---
SORBS3	10174	broad.mit.edu	37	8	22423994	22423994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:22423994C>A	ENST00000240123.7	+	13	1470	c.1087C>A	c.(1087-1089)Cga>Aga	p.R363R	SORBS3_ENST00000428103.1_Silent_p.R21R|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	363					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TTCCTCAACCCGAGGTAAGGA	0.612													5	56	---	---	---	---
ELP3	55140	broad.mit.edu	37	8	27957465	27957465	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:27957465C>A	ENST00000256398.8	+	3	617	c.240C>A	c.(238-240)ccC>ccA	p.P80P	ELP3_ENST00000537665.1_5'UTR|ELP3_ENST00000521015.1_Silent_p.P66P|ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000524103.1_Silent_p.P8P|ELP3_ENST00000380353.4_Intron|ELP3_ENST00000542181.1_Intron	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	80					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGGCGAAACCCATCAGAACTG	0.542													5	80	---	---	---	---
DUSP4	1846	broad.mit.edu	37	8	29207773	29207773	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:29207773C>A	ENST00000240100.2	-	1	412	c.23G>T	c.(22-24)cGg>cTg	p.R8L		NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	8					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GTCCATCTCCCGCAGCTCCTC	0.701													4	63	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37690631	37690631	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:37690631C>A	ENST00000315215.7	+	9	1564	c.1201C>A	c.(1201-1203)Cgc>Agc	p.R401S	GPR124_ENST00000412232.2_Missense_Mutation_p.R401S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	401					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCGAGCCTCCCGCCGGTGTGA	0.672													5	69	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766823	77766823	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:77766823C>A	ENST00000521891.2	+	10	8114	c.7666C>A	c.(7666-7668)Ctc>Atc	p.L2556I	ZFHX4_ENST00000050961.6_Missense_Mutation_p.L2511I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L2530I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L2511I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGCAGTTCCCTCACTCAAAT	0.502										HNSCC(33;0.089)			5	96	---	---	---	---
DECR1	1666	broad.mit.edu	37	8	91029480	91029480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:91029480G>T	ENST00000522161.1	+	4	854	c.171G>T	c.(169-171)ggG>ggT	p.G57G	DECR1_ENST00000220764.2_Silent_p.G66G|DECR1_ENST00000519007.1_3'UTR			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	66					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCATTACTGGGGGAGGTACTG	0.443													6	135	---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599467	116599467	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:116599467G>T	ENST00000395715.3	-	5	3038	c.2461C>A	c.(2461-2463)Caa>Aaa	p.Q821K	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q562K|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q808K|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q808K|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q812K	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	808					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGGCTTGCTTGGGTGTATGAC	0.587									Langer-Giedion syndrome				7	227	---	---	---	---
ZNF250	58500	broad.mit.edu	37	8	146108208	146108208	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr8:146108208C>A	ENST00000292579.7	-	6	491	c.375G>T	c.(373-375)aaG>aaT	p.K125N	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.K120N	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K125N(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		GACTCTCTCCCTTGGTTTCAC	0.403													6	176	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168532	13168532	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:13168532C>A	ENST00000319217.7	-	22	3334	c.3087G>T	c.(3085-3087)ttG>ttT	p.L1029F	MPDZ_ENST00000536827.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381015.4_Missense_Mutation_p.L1029F|MPDZ_ENST00000546205.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000541718.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000447879.1_Missense_Mutation_p.L1029F|MPDZ_ENST00000381022.2_Missense_Mutation_p.L1029F	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1029	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGATCATCCCCAAGCCATCTT	0.363													6	234	---	---	---	---
IFNA6	3443	broad.mit.edu	37	9	21350489	21350489	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:21350489G>T	ENST00000380210.1	-	1	888	c.398C>A	c.(397-399)cCc>cAc	p.P133H		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	133					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTCATCAGGGGAGTCCCTCC	0.498													8	293	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634292	32634292	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:32634292C>A	ENST00000242310.4	-	1	1375	c.1286G>T	c.(1285-1287)tGg>tTg	p.W429L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	429					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			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)		AGAATCCTCCCAATGCAGCTG	0.458													7	237	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33924204	33924204	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:33924204C>A	ENST00000379238.1	-	23	2707	c.2590G>T	c.(2590-2592)Ggt>Tgt	p.G864C	UBAP2_ENST00000379235.1_Splice_Site_p.G103C|UBAP2_ENST00000360802.1_Splice_Site_p.G864C|UBAP2_ENST00000449054.1_Splice_Site_p.G864C|UBAP2_ENST00000379239.4_Splice_Site_p.G597C|UBAP2_ENST00000539807.1_Splice_Site_p.G619C			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	864										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GCAAACTCACCTGGATATGGA	0.562													6	103	---	---	---	---
VCP	7415	broad.mit.edu	37	9	35068275	35068275	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35068275C>A	ENST00000358901.6	-	2	997	c.102G>T	c.(100-102)gaG>gaT	p.E34D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	34					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CACTGTTGTCCTCATTGATGG	0.443													9	404	---	---	---	---
SPAG8	26206	broad.mit.edu	37	9	35810051	35810051	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:35810051C>A	ENST00000484764.1	-	7	1358	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	SPAG8_ENST00000396638.2_Missense_Mutation_p.G448W|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000340291.2_Intron			Q99932	SPAG8_HUMAN	sperm associated antigen 8	81						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AAAAGTTTCCCCAGAGACAAG	0.537													7	173	---	---	---	---
MAMDC2	256691	broad.mit.edu	37	9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463													7	127	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79834914	79834914	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:79834914C>A	ENST00000360280.3	+	11	1059	c.799C>A	c.(799-801)Cga>Aga	p.R267R	VPS13A_ENST00000376634.4_Silent_p.R267R|VPS13A_ENST00000357409.5_Silent_p.R267R|VPS13A_ENST00000376636.3_Silent_p.R267R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	267					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATGAATCGCCGATCTGATTT	0.313													5	119	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101787171	101787171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:101787171C>A	ENST00000375001.3	+	15	2293	c.1870C>A	c.(1870-1872)Cca>Aca	p.P624T		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	624	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCAGGACCCCCAGGGCCACC	0.507													5	70	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104313041	104313041	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:104313041C>A	ENST00000389120.3	+	10	1336	c.1246C>A	c.(1246-1248)Cac>Aac	p.H416N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	416					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.H416N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		CAGAGGAACCCACCAGCACCA	0.463													6	199	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109688260	109688260	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109688260C>A	ENST00000277225.5	+	3	2356	c.2067C>A	c.(2065-2067)ccC>ccA	p.P689P	ZNF462_ENST00000457913.1_Silent_p.P689P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	689					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P689P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATTTGTCACCCGTGAAGAAGA	0.433													8	248	---	---	---	---
ZNF462	58499	broad.mit.edu	37	9	109689354	109689354	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:109689354C>A	ENST00000277225.5	+	3	3450	c.3161C>A	c.(3160-3162)cCc>cAc	p.P1054H	ZNF462_ENST00000457913.1_Missense_Mutation_p.P1054H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1054					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGAAACACCCCGAAGAAAAG	0.443													7	188	---	---	---	---
SPTAN1	6709	broad.mit.edu	37	9	131356647	131356647	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:131356647C>A	ENST00000358161.5	+	24	3522	c.3409C>A	c.(3409-3411)Cag>Aag	p.Q1137K	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q1137K|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1137K			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1137					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGATGACTTCCAGAAGGTATG	0.418													4	51	---	---	---	---
KCNT1	57582	broad.mit.edu	37	9	138683669	138683669	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:138683669C>A	ENST00000298480.5	+	31	3666	c.3592C>A	c.(3592-3594)Ctc>Atc	p.L1198I	KCNT1_ENST00000263604.3_Missense_Mutation_p.L1172I|KCNT1_ENST00000486577.2_Missense_Mutation_p.L1155I|KCNT1_ENST00000490355.2_Missense_Mutation_p.L1176I|KCNT1_ENST00000488444.2_Missense_Mutation_p.L1177I|KCNT1_ENST00000491806.2_Missense_Mutation_p.L1163I|KCNT1_ENST00000487664.1_Missense_Mutation_p.L1153I|KCNT1_ENST00000371757.2_Missense_Mutation_p.L1177I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1177						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAGAACACCCTCTCCTACGT	0.647													6	103	---	---	---	---
CCNY	219771	broad.mit.edu	37	10	35854950	35854950	+	Splice_Site	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:35854950G>T	ENST00000374704.4	+	9	926		c.e9-1		CCNY_ENST00000339497.5_Splice_Site|CCNY_ENST00000265375.9_Splice_Site|CCNY_ENST00000374706.1_Splice_Site	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y						cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGCTTTGCAGGAACGAGCTA	0.473													6	101	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70641864	70641864	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:70641864C>A	ENST00000298596.6	+	2	544	c.461C>A	c.(460-462)cCa>cAa	p.P154Q	STOX1_ENST00000399169.4_Missense_Mutation_p.P154Q|STOX1_ENST00000399162.2_Missense_Mutation_p.P154Q|STOX1_ENST00000399165.4_Missense_Mutation_p.P154Q|STOX1_ENST00000421961.2_Missense_Mutation_p.P44Q	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	154						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AAACATTACCCAGGTAGAGTA	0.343													5	89	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73571187	73571187	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:73571187C>A	ENST00000224721.6	+	62	9213	c.9208C>A	c.(9208-9210)Ctg>Atg	p.L3070M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.L825M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3065					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATGTCTGCCCTGCAGGTACC	0.642													5	49	---	---	---	---
TTC18	118491	broad.mit.edu	37	10	75104886	75104886	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:75104886G>T	ENST00000310715.3	-	6	666	c.546C>A	c.(544-546)tcC>tcA	p.S182S	TTC18_ENST00000340329.3_Silent_p.S182S|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Silent_p.S182S|TTC18_ENST00000394865.1_Silent_p.S182S|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	182							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TTGGAATGAAGGATTCAGGCA	0.478													8	231	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070925	81070925	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:81070925C>A	ENST00000334512.5	+	24	3652	c.3080C>A	c.(3079-3081)cCg>cAg	p.P1027Q	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1027					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCCGACATGCCGGAGCCTTCG	0.677													5	124	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768686	90768686	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:90768686C>A	ENST00000355740.2	+	4	595	c.375C>A	c.(373-375)acC>acA	p.T125T	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T125T|FAS_ENST00000355279.2_Silent_p.T125T|FAS_ENST00000357339.2_Silent_p.T125T	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	125					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CCCAGAATACCAAGTGCAGAT	0.363													9	545	---	---	---	---
CEP55	55165	broad.mit.edu	37	10	95259849	95259849	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:95259849G>T	ENST00000371485.3	+	2	345	c.41G>T	c.(40-42)tGg>tTg	p.W14L		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	14					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAAAGTAAGTGGGGATCGAAG	0.318													7	242	---	---	---	---
CC2D2B	387707	broad.mit.edu	37	10	97791669	97791669	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:97791669C>A	ENST00000344386.3	+	9	1037	c.873C>A	c.(871-873)ccC>ccA	p.P291P	ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Silent_p.P370P|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	291										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGAATTTCCCCAGACAGAAT	0.393													6	121	---	---	---	---
CNNM1	26507	broad.mit.edu	37	10	101120619	101120619	+	Missense_Mutation	SNP	C	C	A	rs150442293		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:101120619C>A	ENST00000356713.4	+	3	2034	c.1745C>A	c.(1744-1746)cCg>cAg	p.P582Q	CNNM1_ENST00000446890.1_Missense_Mutation_p.P511Q|CNNM1_ENST00000370534.4_Missense_Mutation_p.P217Q|CNNM1_ENST00000370528.3_Missense_Mutation_p.P511Q	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	582					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAGAGGGTCCCGCAACGGGAG	0.527													5	216	---	---	---	---
PPRC1	23082	broad.mit.edu	37	10	103897727	103897727	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:103897727G>T	ENST00000278070.2	+	2	313	c.274G>T	c.(274-276)Ggg>Tgg	p.G92W	PPRC1_ENST00000413464.2_Missense_Mutation_p.G92W	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACACTGCTGGGGACCATGCA	0.547													5	60	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104165148	104165148	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:104165148C>A	ENST00000020673.5	-	12	2807	c.2281G>T	c.(2281-2283)Ggg>Tgg	p.G761W	PSD_ENST00000406432.1_Missense_Mutation_p.G761W	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	761	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACCAGGGCCCCGTGCTTGTAG	0.662													7	188	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105815721	105815721	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:105815721C>A	ENST00000353479.5	-	18	1796	c.1506G>T	c.(1504-1506)ctG>ctT	p.L502L	COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Silent_p.L502L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	502	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATCCTCTCCAGCTCATCCA	0.602													6	159	---	---	---	---
CTBP2	1488	broad.mit.edu	37	10	126714705	126714705	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr10:126714705C>A	ENST00000309035.6	-	1	1754	c.1624G>T	c.(1624-1626)Gcc>Tcc	p.A542S	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GTGCGCCGGGCCACCTTCTGG	0.682													7	156	---	---	---	---
KRTAP5-6	440023	broad.mit.edu	37	11	1718821	1718821	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:1718821C>A	ENST00000382160.1	+	1	397	c.346C>A	c.(346-348)Cag>Aag	p.Q116K		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	116						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTGTTCCCAGGCCAGCTG	0.577													6	191	---	---	---	---
OR10A6	390093	broad.mit.edu	37	11	7950138	7950138	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:7950138C>A	ENST00000309838.2	-	1	71	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAGCTGCCCCTGGAGCTCAG	0.433													5	73	---	---	---	---
RIC3	79608	broad.mit.edu	37	11	8159831	8159831	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:8159831G>T	ENST00000343202.4	-	3	480	c.415C>A	c.(415-417)Cac>Aac	p.H139N	RIC3_ENST00000309737.6_Missense_Mutation_p.H139N|RIC3_ENST00000425599.2_Missense_Mutation_p.H139N|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.H90N|RIC3_ENST00000335425.7_Intron	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	139						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.H139N(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATTTTCCTGTGGGTGTTTCCA	0.433													7	310	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9878189	9878189	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:9878189G>T	ENST00000256190.8	-	19	2316	c.2179C>A	c.(2179-2181)Ctg>Atg	p.L727M	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	727					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACTTGCTCAGGGTAGGCCAA	0.463													8	301	---	---	---	---
KIAA1549L	25758	broad.mit.edu	37	11	33564582	33564582	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:33564582C>A	ENST00000321505.4	+	1	762	c.582C>A	c.(580-582)ccC>ccA	p.P194P	KIAA1549L_ENST00000265654.5_Silent_p.P194P|KIAA1549L_ENST00000389726.3_Silent_p.P194P					KIAA1549-like																		GGGCGGTTCCCGCATCACCAT	0.562											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	192	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44165856	44165856	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:44165856C>A	ENST00000358681.4	+	8	1399	c.1233C>A	c.(1231-1233)tcC>tcA	p.S411S	EXT2_ENST00000533608.1_Intron|EXT2_ENST00000395673.3_Intron|EXT2_ENST00000343631.3_Intron	NM_001178083.1	NP_001171554.1	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	405					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						AAATGAACTCCCTGATCTGGC	0.478			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				7	136	---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47657103	47657103	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:47657103C>A	ENST00000542981.1	-	0	368				MTCH2_ENST00000302503.3_Missense_Mutation_p.K100N			Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2						transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATACCTCACCCTTGTCACTCT	0.403													5	72	---	---	---	---
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:60785403C>A	ENST00000313421.7	+	11	1941	c.1755C>A	c.(1753-1755)ccC>ccA	p.P585P	CD6_ENST00000344028.5_Silent_p.P553P|CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582													6	112	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287973	62287973	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62287973G>T	ENST00000378024.4	-	5	14190	c.13916C>A	c.(13915-13917)cCa>cAa	p.P4639Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4639					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCTGGGACATCAAT	0.537													8	314	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62299931	62299931	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62299931G>T	ENST00000378024.4	-	5	2232	c.1958C>A	c.(1957-1959)cCc>cAc	p.P653H	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	653					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTCCTTTGGGTAGAGTCAT	0.502													7	189	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377892.1	+	6	1182	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289				S -> F (in Ref. 5; AAA35489).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488													19	65	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64537847	64537847	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:64537847C>A	ENST00000422298.2	-	0	570				SF1_ENST00000227503.9_Missense_Mutation_p.E90D|SF1_ENST00000334944.5_Missense_Mutation_p.E90D|SF1_ENST00000433274.2_Missense_Mutation_p.E64D|SF1_ENST00000377387.1_Missense_Mutation_p.E215D|SF1_ENST00000377390.3_Missense_Mutation_p.E90D|SF1_ENST00000377394.3_Missense_Mutation_p.E90D			Q15637	SF01_HUMAN	splicing factor 1						nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCCGCTTCCCCTCGCTATTGT	0.532													6	108	---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76169379	76169379	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:76169379C>A	ENST00000529032.1	+	4	398	c.398C>A	c.(397-399)cCt>cAt	p.P133H	C11orf30_ENST00000525038.1_Missense_Mutation_p.P147H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P133H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P147H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P133H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P147H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P133H|C11orf30_ENST00000524490.1_Missense_Mutation_p.P133H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	133	Interaction with BRCA2.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTTCCAGTGCCTGCAGAAACA	0.423													5	79	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77051799	77051799	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:77051799C>A	ENST00000356341.3	-	11	1539	c.1008G>T	c.(1006-1008)gtG>gtT	p.V336V	PAK1_ENST00000530617.1_Silent_p.V336V|PAK1_ENST00000278568.4_Silent_p.V336V|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Silent_p.V238V	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	336	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GCTCATCTCCCACGAGGTAAC	0.468													7	253	---	---	---	---
CCDC81	60494	broad.mit.edu	37	11	86086224	86086224	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:86086224C>A	ENST00000278487.3	+	0	447				CCDC81_ENST00000354755.1_Missense_Mutation_p.R7S|CCDC81_ENST00000445632.2_Missense_Mutation_p.R7S			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81											kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				TACGATCGCCCGTGCCCTGCA	0.547													7	234	---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102647391	102647391	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:102647391G>T	ENST00000279441.4	-	5	775	c.739C>A	c.(739-741)Cag>Aag	p.Q247K		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	247					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGGCGGAACTGGGCGAGCTCT	0.498													7	106	---	---	---	---
ACAT1	38	broad.mit.edu	37	11	108017036	108017036	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:108017036C>A	ENST00000265838.4	+	11	1204	c.1113C>A	c.(1111-1113)ccC>ccA	p.P371P		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	371					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGATTGATCCCCAAAAAGTGA	0.363													7	163	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111591264	111591264	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:111591264G>T	ENST00000304987.3	+	11	1731	c.1558G>T	c.(1558-1560)Ggg>Tgg	p.G520W	SIK2_ENST00000533868.1_3'UTR	NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	520					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GTATGATATGGGGTCTGTTCA	0.453													6	92	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117310573	117310573	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:117310573C>A	ENST00000321322.6	-	22	4123	c.4122G>T	c.(4120-4122)gtG>gtT	p.V1374V	DSCAML1_ENST00000527706.1_Silent_p.V1104V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1314	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGATCTCCCACTGAATTGC	0.562													7	183	---	---	---	---
OAF	220323	broad.mit.edu	37	11	120096400	120096400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120096400G>T	ENST00000328965.4	+	2	775	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	OAF_ENST00000531220.1_Intron	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	88										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGATCCTGGGGGAGCTGGA	0.627													5	98	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120776122	120776122	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:120776122C>A	ENST00000527524.2	+	13	1683	c.1396C>A	c.(1396-1398)Cgc>Agc	p.R466S	GRIK4_ENST00000438375.2_Missense_Mutation_p.R466S	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	466					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTACAAGATCCGCCTGGTTGG	0.592													6	193	---	---	---	---
PATE1	160065	broad.mit.edu	37	11	125617637	125617637	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:125617637C>A	ENST00000305738.5	+	4	179	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	PATE1_ENST00000437148.2_Missense_Mutation_p.P44Q	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	56						extracellular region				large_intestine(1)|lung(5)	6						CTCCAGTTCCCAGGAGAAAAG	0.478													6	86	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493													7	188	---	---	---	---
APLP2	334	broad.mit.edu	37	11	130013260	130013260	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:130013260C>A	ENST00000263574.5	+	18	2281	c.2209C>A	c.(2209-2211)Cca>Aca	p.P737T	APLP2_ENST00000543137.1_Missense_Mutation_p.P632T|APLP2_ENST00000338167.5_Missense_Mutation_p.P725T|APLP2_ENST00000539648.1_Missense_Mutation_p.P525T|APLP2_ENST00000278756.7_Missense_Mutation_p.P735T|APLP2_ENST00000345598.5_Missense_Mutation_p.P496T|APLP2_ENST00000528499.1_Missense_Mutation_p.P669T	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	737					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AATGCTCACCCCAGAAGAGCG	0.542													6	101	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6204639	6204639	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6204639C>A	ENST00000261405.5	-	6	898	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VWF_ENST00000572068.1_Missense_Mutation_p.G252V	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	215	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGCATTTCCCCAGAGGAGAT	0.527													7	111	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6637434	6637434	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:6637434G>T	ENST00000315579.5	+	25	4038	c.3239G>T	c.(3238-3240)gGg>gTg	p.G1080V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.G1035V	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1080					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GTTGCCACTGGGGATCTGGCC	0.557													7	199	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7293956	7293956	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:7293956C>A	ENST00000537408.1	+	8	2016	c.1478C>A	c.(1477-1479)cCa>cAa	p.P493Q	CLSTN3_ENST00000266546.6_Missense_Mutation_p.P481Q			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	481					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTCATCCACCCACCCCGAAGG	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	155	---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21965074	21965074	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:21965074C>A	ENST00000261200.4	-	34	4119	c.4120G>T	c.(4120-4122)Ggg>Tgg	p.G1374W	ABCC9_ENST00000261201.4_Missense_Mutation_p.G1374W|ABCC9_ENST00000345162.2_Missense_Mutation_p.G1338W	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1374	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGTCTATCCCATCAATGACA	0.328													5	111	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45269642	45269642	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:45269642C>A	ENST00000429094.2	-	1	515	c.11G>T	c.(10-12)cGg>cTg	p.R4L	NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000333837.4_Missense_Mutation_p.R27L|NELL2_ENST00000437801.2_Missense_Mutation_p.R54L|NELL2_ENST00000548826.1_Missense_Mutation_p.R4L|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Missense_Mutation_p.R4L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	4					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	p.R4Q(1)|p.R54Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTAAGACCCGAGACTCCAT	0.517													5	126	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547													7	225	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	56995493	56995493	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:56995493G>T	ENST00000179765.5	-	21	4017	c.3818C>A	c.(3817-3819)cCg>cAg	p.P1273Q	BAZ2A_ENST00000379441.3_Missense_Mutation_p.P1275Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P1305Q|BAZ2A_ENST00000549884.1_Missense_Mutation_p.P1303Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1305	Glu-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TGGCTCCTCCGGGGGTTGTGA	0.582													6	213	---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57485187	57485187	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57485187C>A	ENST00000300131.3	+	2	741	c.363C>A	c.(361-363)ccC>ccA	p.P121P	NAB2_ENST00000342556.6_Silent_p.P121P|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.P121P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	121					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P121P(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGCTGTTCCCGTCTCCAGCA	0.617													6	158	---	---	---	---
MARS	4141	broad.mit.edu	37	12	57881902	57881902	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:57881902C>A	ENST00000262027.5	+	1	163	c.29C>A	c.(28-30)cCg>cAg	p.P10Q	ARHGAP9_ENST00000550288.1_Intron|MARS_ENST00000447721.2_3'UTR|ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	10					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GATGGCGTCCCGGGTTGCTTG	0.662													6	186	---	---	---	---
SLC26A10	65012	broad.mit.edu	37	12	58014048	58014048	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:58014048G>T	ENST00000379218.2	+	1	356	c.45G>T	c.(43-45)ctG>ctT	p.L15L	SLC26A10_ENST00000320442.4_Silent_p.L15L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	15						integral to membrane	antiporter activity	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCAT	0.532													7	274	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72056881	72056881	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:72056881C>A	ENST00000378743.3	-	1	868	c.510G>T	c.(508-510)ccG>ccT	p.P170P	ZFC3H1_ENST00000552037.1_Silent_p.P170P|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.P170P|ZFC3H1_ENST00000549407.1_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	170					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTCTGCACCCCGGCTTGCCTC	0.657													6	182	---	---	---	---
WSB2	55884	broad.mit.edu	37	12	118490251	118490251	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:118490251C>A	ENST00000315436.3	-	2	187	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000535496.1_Missense_Mutation_p.G18W|WSB2_ENST00000441406.2_Missense_Mutation_p.G33W	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	16					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGGGCGCCCGGGCTTGAGT	0.592													5	165	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220064	133220064	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:133220064C>A	ENST00000320574.5	-	34	4416	c.4373G>T	c.(4372-4374)tGg>tTg	p.W1458L	POLE_ENST00000535270.1_Missense_Mutation_p.W1431L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1458					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCTGCTTCCCAGCCTGAAAG	0.582								DNA polymerases (catalytic subunits)					8	220	---	---	---	---
XPO4	64328	broad.mit.edu	37	13	21375050	21375050	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:21375050G>T	ENST00000400602.2	-	14	1932	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	XPO4_ENST00000255305.6_Missense_Mutation_p.Q633K	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	633					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGCCCATCTGGGGACTTAGT	0.393													6	131	---	---	---	---
MED4	29079	broad.mit.edu	37	13	48653982	48653982	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:48653982G>T	ENST00000258648.2	-	6	663	c.638C>A	c.(637-639)cCa>cAa	p.P213Q	MED4_ENST00000378586.1_Missense_Mutation_p.P167Q|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	213					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AACATTACCTGGCAATCTTCC	0.453													5	123	---	---	---	---
VPS36	51028	broad.mit.edu	37	13	53008975	53008975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:53008975C>A	ENST00000378060.4	-	5	421	c.394G>T	c.(394-396)Gag>Tag	p.E132*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	132	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		GGCATATTCTCCCATCTTCTT	0.343													7	250	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79916824	79916824	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:79916824G>T	ENST00000438737.2	-	17	2842	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	RBM26_ENST00000438724.1_Missense_Mutation_p.P777Q|RBM26_ENST00000267229.7_Missense_Mutation_p.P774Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	801					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATACTTTTTGGAAGACAGCG	0.299													7	227	---	---	---	---
SLITRK1	114798	broad.mit.edu	37	13	84454723	84454723	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr13:84454723C>A	ENST00000377084.2	-	1	1805	c.920G>T	c.(919-921)gGa>gTa	p.G307V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	307						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CTTTGTACCTCCGTTTGGAGC	0.542													7	67	---	---	---	---
OR10G2	26534	broad.mit.edu	37	14	22102996	22102996	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22102996C>A	ENST00000542433.1	-	1	100	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TGGTCTTTCCCATGTCTTTTT	0.443													8	117	---	---	---	---
TRAV2	28691	broad.mit.edu	37	14	22180919	22180919	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22180919C>A	ENST00000390424.2	+	0	201																											CTTCACTTCCCGGGATGTGCA	0.493													7	315	---	---	---	---
TRAV8-4	28682	broad.mit.edu	37	14	22362923	22362923	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:22362923C>A	ENST00000390438.2	+	0	182																											CAGGAGGAACCAGAGCCCAGT	0.483											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86	---	---	---	---
DHRS1	115817	broad.mit.edu	37	14	24765763	24765763	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24765763C>A	ENST00000288111.7	-	4	602	c.326G>T	c.(325-327)tGg>tTg	p.W109L	DHRS1_ENST00000396813.1_Missense_Mutation_p.W109L	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	109						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		AGGGGTTTCCCAGAATGCCTT	0.552											OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	116	---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24799472	24799472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24799472C>A	ENST00000310677.4	-	8	1073	c.960G>T	c.(958-960)ctG>ctT	p.L320L	ADCY4_ENST00000418030.2_Silent_p.L320L|ADCY4_ENST00000396747.3_Intron|ADCY4_ENST00000554068.2_Silent_p.L320L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	320					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AACAGTCCCCCAGGATCTTGA	0.567													5	57	---	---	---	---
NYNRIN	57523	broad.mit.edu	37	14	24880587	24880587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:24880587C>A	ENST00000382554.3	+	6	2891	c.2573C>A	c.(2572-2574)tCg>tAg	p.S858*		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	858					DNA integration	integral to membrane	DNA binding			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						AAGCTACACTCGCTCAAGATG	0.552											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	198	---	---	---	---
SLC25A21	89874	broad.mit.edu	37	14	37149905	37149905	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:37149905C>A	ENST00000331299.5	-	10	1373	c.858G>T	c.(856-858)ctG>ctT	p.L286L	SLC25A21_ENST00000555449.1_Silent_p.L286L	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	286					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		ATTCATAAACCAGCAGCATCA	0.418													5	110	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45665409	45665409	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:45665409G>T	ENST00000267430.5	+	21	5460	c.5375G>T	c.(5374-5376)gGg>gTg	p.G1792V	FANCM_ENST00000542564.2_Missense_Mutation_p.G1766V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1792	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCACTTCAGGGGCATCCTGT	0.433								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	117	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53211583	53211583	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:53211583C>A	ENST00000354586.4	+	2	364	c.71C>A	c.(70-72)cCt>cAt	p.P24H	STYX_ENST00000442123.2_Missense_Mutation_p.P24H|STYX_ENST00000556861.1_Intron	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	24					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					TGGACCTACCCTATGAGACGA	0.368													5	79	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64574302	64574302	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:64574302C>A	ENST00000357395.3	+	66	12885	c.1741C>A	c.(1741-1743)Cta>Ata	p.L581I	SYNE2_ENST00000394768.2_Missense_Mutation_p.L581I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L4196I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4211I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L830I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4196I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4196					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGAATGTTCCCTAAGGCCCAA	0.453													7	202	---	---	---	---
SMOC1	64093	broad.mit.edu	37	14	70461181	70461181	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:70461181C>A	ENST00000381280.4	+	7	901	c.648C>A	c.(646-648)acC>acA	p.T216T	SMOC1_ENST00000361956.3_Silent_p.T216T	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	216					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TGAACAACACCAACATAAGAA	0.428													6	180	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71455412	71455412	+	Missense_Mutation	SNP	C	C	A	rs11625690		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:71455412C>A	ENST00000304743.2	+	7	2886	c.2440C>A	c.(2440-2442)Cta>Ata	p.L814I	PCNX_ENST00000439984.3_Intron|PCNX_ENST00000238570.5_Missense_Mutation_p.L814I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	814			L -> I (in dbSNP:rs11625690).			integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGGATCACCCCTAAGGTATGG	0.493													7	259	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75489529	75489529	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:75489529G>T	ENST00000355774.2	-	11	4293	c.4078C>A	c.(4078-4080)Caa>Aaa	p.Q1360K	MLH3_ENST00000238662.7_Missense_Mutation_p.Q1336K|MLH3_ENST00000380968.2_Missense_Mutation_p.Q298K|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.Q1360K|MLH3_ENST00000556257.1_Missense_Mutation_p.Q1182K	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1360					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCAGGCTTGGGATGCCAAC	0.517								Mismatch excision repair (MMR)					7	175	---	---	---	---
EVL	51466	broad.mit.edu	37	14	100604171	100604171	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:100604171C>A	ENST00000544450.2	+	11	1421	c.1138C>A	c.(1138-1140)Cca>Aca	p.P380T	EVL_ENST00000402714.2_Intron|EVL_ENST00000392920.3_Intron			Q9UI08	EVL_HUMAN	Enah/Vasp-like	184	EVH2 block C.|EVH2.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CACATGTCCCCCAGGGTTTGG	0.592													5	64	---	---	---	---
TECPR2	9895	broad.mit.edu	37	14	102904421	102904421	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:102904421C>A	ENST00000359520.7	+	10	2683	c.2457C>A	c.(2455-2457)tcC>tcA	p.S819S	TECPR2_ENST00000558678.1_Silent_p.S819S	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	819							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TGGTGGTCTCCGAGAAGTATA	0.587											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	222	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691827	106691827	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr14:106691827C>A	ENST00000390607.2	-	0	275																											GGATGAGACCCACTCCAGCCC	0.532													7	247	---	---	---	---
NDNL2	56160	broad.mit.edu	37	15	29561192	29561192	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:29561192G>T	ENST00000332303.4	-	1	841	c.718C>A	c.(718-720)Cac>Aac	p.H240N	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	240	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGGTCGGTGTGGGGTATCCGC	0.502													6	100	---	---	---	---
PAK6	56924	broad.mit.edu	37	15	40564554	40564554	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40564554C>A	ENST00000455577.2	+	6	1900	c.988C>A	c.(988-990)Cag>Aag	p.Q330K	PAK6_ENST00000441369.1_Missense_Mutation_p.Q330K|PAK6_ENST00000542403.2_Missense_Mutation_p.Q330K|PAK6_ENST00000260404.4_Missense_Mutation_p.Q330K|PAK6_ENST00000560346.1_Missense_Mutation_p.Q330K|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000453867.1_Missense_Mutation_p.Q330K	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	330	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CAGCAGCCCCCAGAAGTCCCT	0.687													5	89	---	---	---	---
CHST14	113189	broad.mit.edu	37	15	40764282	40764282	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:40764282C>A	ENST00000306243.5	+	1	1123	c.870C>A	c.(868-870)gcC>gcA	p.A290A	CHST14_ENST00000559991.1_Silent_p.A265A	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	290					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		AGCCTTGTGCCGTGCACTATG	0.567													5	170	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49255147	49255147	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:49255147G>T	ENST00000332408.4	-	1	494	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	22	CH2.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCAGCATCCCGGGGTGCCCGA	0.607													6	152	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50279700	50279700	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:50279700C>A	ENST00000284509.6	-	10	777	c.636G>T	c.(634-636)atG>atT	p.M212I	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.M212I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	212					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AAAGGATTCCCATGAATTTAT	0.393													5	87	---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:54586236G>T	ENST00000545554.1	+	10	3962	c.3962G>T	c.(3961-3963)gGa>gTa	p.G1321V	UNC13C_ENST00000260323.11_Missense_Mutation_p.G1321V|UNC13C_ENST00000537900.1_Missense_Mutation_p.G1319V			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			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)		ACCTTGAGTGGAGAAATGGAT	0.353													7	215	---	---	---	---
CILP	8483	broad.mit.edu	37	15	65502087	65502087	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:65502087C>A	ENST00000261883.4	-	2	173	c.7G>T	c.(7-9)Ggg>Tgg	p.G3W		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	3					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.G3R(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GCCTTGGTCCCCACCATCTTT	0.552													5	57	---	---	---	---
SNUPN	10073	broad.mit.edu	37	15	75899625	75899625	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:75899625C>A	ENST00000564644.1	-	7	1110	c.532G>T	c.(532-534)Gag>Tag	p.E178*	SNUPN_ENST00000308588.5_Nonsense_Mutation_p.E178*|SNUPN_ENST00000567134.1_Nonsense_Mutation_p.E178*|SNUPN_ENST00000371091.5_Nonsense_Mutation_p.E220*|SNUPN_ENST00000564675.1_Nonsense_Mutation_p.E178*			O95149	SPN1_HUMAN	snurportin 1	178					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TGGTTTACCTCATTGTAAATG	0.498													6	91	---	---	---	---
TBC1D2B	23102	broad.mit.edu	37	15	78346441	78346441	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:78346441C>A	ENST00000409931.3	-	2	520	c.449G>T	c.(448-450)tGg>tTg	p.W150L	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.W150L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	150						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						CCTGCTGTCCCACTTGACCAT	0.488													6	139	---	---	---	---
MEX3B	84206	broad.mit.edu	37	15	82336242	82336242	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:82336242G>T	ENST00000329713.4	-	2	1404	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MEX3B_ENST00000558133.1_3'UTR	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	323					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AGCTCAGGGCGGGGCTAGGGG	0.637													5	104	---	---	---	---
MCTP2	55784	broad.mit.edu	37	15	94928745	94928745	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr15:94928745C>A	ENST00000357742.4	+	13	1779	c.1779C>A	c.(1777-1779)ccC>ccA	p.P593P	MCTP2_ENST00000557742.1_Silent_p.P181P|MCTP2_ENST00000451018.3_Silent_p.P593P|MCTP2_ENST00000331706.4_Silent_p.P181P	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	593					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGCCATTCCCTTGCTGTCCG	0.363													6	154	---	---	---	---
RHBDL1	9028	broad.mit.edu	37	16	726866	726866	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:726866C>A	ENST00000219551.2	+	2	618	c.591C>A	c.(589-591)ccC>ccA	p.P197P	RHBDL1_ENST00000352681.3_Silent_p.P132P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	197					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCCCACCCCCCGTGTTCATGG	0.667													5	68	---	---	---	---
MLST8	64223	broad.mit.edu	37	16	2256121	2256121	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:2256121C>A	ENST00000569417.1	+	2	389	c.35C>A	c.(34-36)cCg>cAg	p.P12Q	MLST8_ENST00000565250.1_Missense_Mutation_p.P12Q|MLST8_ENST00000301725.7_Missense_Mutation_p.P31Q|MLST8_ENST00000397124.1_Missense_Mutation_p.P12Q|MLST8_ENST00000382450.4_Missense_Mutation_p.P12Q|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.P12Q|MLST8_ENST00000564088.1_Missense_Mutation_p.P12Q	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	12					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GGCAGTGACCCGGTCATCCTG	0.652													5	129	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4750963	4750963	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:4750963G>T	ENST00000450067.2	-	7	984	c.674C>A	c.(673-675)cCg>cAg	p.P225Q	ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000304283.4_Intron			Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	0										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTTCACAAGCGGTCTTACCTG	0.572													5	303	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20335306	20335306	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:20335306C>A	ENST00000302555.5	-	3	516	c.367G>T	c.(367-369)Ggg>Tgg	p.G123W	GP2_ENST00000381362.4_Missense_Mutation_p.G123W|GP2_ENST00000341642.5_Intron|GP2_ENST00000381360.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	123						anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGTGGGTCCCATTCAGCCAC	0.592													5	92	---	---	---	---
PAGR1	79447	broad.mit.edu	37	16	29830900	29830900	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:29830900G>T	ENST00000320330.6	+	3	1152	c.590G>T	c.(589-591)cGg>cTg	p.R197L	AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA|PAGR1_ENST00000609618.1_Missense_Mutation_p.R197L					PAXIP1 associated glutamate-rich protein 1																		AGCCAGAAACGGGAGGCCCGC	0.577													6	278	---	---	---	---
HIRIP3	8479	broad.mit.edu	37	16	30006001	30006001	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30006001C>A	ENST00000279392.3	-	4	1295	c.465G>T	c.(463-465)agG>agT	p.R155S	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	155	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCTCCTCTCCCCTCTGTGCGG	0.567													11	375	---	---	---	---
ZNF689	115509	broad.mit.edu	37	16	30620869	30620869	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:30620869G>T	ENST00000287461.3	-	2	633	c.296C>A	c.(295-297)cCg>cAg	p.P99Q	ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	99	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			TAGCCCTCTCGGGTACTCCTG	0.557													4	85	---	---	---	---
ADGRG1	9289	broad.mit.edu	37	16	57691386	57691386	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57691386C>A	ENST00000562631.1	+	10	1801	c.1269C>A	c.(1267-1269)gcC>gcA	p.A423A	GPR56_ENST00000388812.4_Silent_p.A423A|GPR56_ENST00000540164.2_Silent_p.A423A|GPR56_ENST00000562558.1_Silent_p.A423A|GPR56_ENST00000568909.1_Silent_p.A423A|GPR56_ENST00000379696.3_Silent_p.A423A|GPR56_ENST00000379694.4_Silent_p.A253A|GPR56_ENST00000456916.1_Silent_p.A423A|GPR56_ENST00000544297.1_Silent_p.A248A|GPR56_ENST00000568908.1_Silent_p.A423A|GPR56_ENST00000538815.1_Silent_p.A423A|GPR56_ENST00000388813.5_Silent_p.A423A|GPR56_ENST00000567835.1_Silent_p.A423A			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	423					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCACCATTGCCGCCTACCTCT	0.647													5	222	---	---	---	---
GPR97	222487	broad.mit.edu	37	16	57722301	57722301	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:57722301C>A	ENST00000333493.4	+	12	1739	c.1578C>A	c.(1576-1578)ctC>ctA	p.L526L	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.L406L|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	526					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTTTACCTCCCAAGTCAGA	0.572													7	179	---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424535	67424535	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:67424535C>A	ENST00000564104.1	-	2	1030	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TPPP3_ENST00000290942.5_Splice_Site_p.K63N|TPPP3_ENST00000562206.1_Splice_Site_p.K63N|TPPP3_ENST00000393957.2_Splice_Site_p.K63N			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	63					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CAGACTTCCCCCTGACAGGCA	0.532													7	167	---	---	---	---
DHX38	9785	broad.mit.edu	37	16	72130760	72130760	+	Silent	SNP	G	G	T	rs147413193		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72130760G>T	ENST00000268482.3	+	3	872	c.363G>T	c.(361-363)ccG>ccT	p.P121P	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	121					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P121P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATCCCATCCGGGTGGTGTGA	0.537													9	279	---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72184682	72184682	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72184682C>A	ENST00000537465.1	-	5	619	c.461G>T	c.(460-462)gGg>gTg	p.G154V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G154V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G9V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	154										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGCTTCTCCCCTGTGTTCTC	0.493													7	117	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72829959	72829959	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:72829959G>T	ENST00000268489.5	-	9	7294	c.6622C>A	c.(6622-6624)Cct>Act	p.P2208T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1294T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2208					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGTTGTAAGGGGAGTCCTTG	0.527													7	127	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81161416	81161416	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:81161416C>A	ENST00000533478.1	-	0	4354				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCCTCCTCCCCGGTACACAG	0.527													5	46	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85952112	85952112	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:85952112C>A	ENST00000268638.5	+	7	1113	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	IRF8_ENST00000562492.1_Missense_Mutation_p.L27M	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	231					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CCGCCTGTCCCTGAGCCAGCC	0.687													5	88	---	---	---	---
MNT	4335	broad.mit.edu	37	17	2290812	2290812	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2290812G>T	ENST00000174618.4	-	6	1537	c.1132C>A	c.(1132-1134)Ctg>Atg	p.L378M	MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	378					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		tgtggaggcagaggcgcaggg	0.711													6	119	---	---	---	---
RAP1GAP2	23108	broad.mit.edu	37	17	2908722	2908722	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:2908722C>A	ENST00000254695.8	+	15	1350	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	RAP1GAP2_ENST00000540393.2_Silent_p.P401P|RAP1GAP2_ENST00000366401.4_Silent_p.P405P|RAP1GAP2_ENST00000542807.1_Silent_p.P420P	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAGTCCCCCCGTTTTCCAGA	0.562													5	206	---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4542227	4542227	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:4542227C>A	ENST00000570836.1	-	5	556	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	ALOX15_ENST00000574640.1_Missense_Mutation_p.G115W|ALOX15_ENST00000293761.3_Missense_Mutation_p.G154W|ALOX15_ENST00000545513.1_Missense_Mutation_p.G176W			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	154	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTTTGGCCCCAGCCATATTC	0.537													6	135	---	---	---	---
ACAP1	9744	broad.mit.edu	37	17	7240646	7240646	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:7240646G>T	ENST00000158762.3	+	2	275	c.69G>T	c.(67-69)ctG>ctT	p.L23L		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	23	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTATTGAGCTGGTGGAAGCCG	0.582													6	130	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10415429	10415429	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:10415429C>A	ENST00000226207.5	-	13	1322	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	410	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TACTCATTGCCGACCTTGACC	0.463													7	282	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27962986	27962986	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:27962986C>A	ENST00000269033.3	-	14	2332	c.2181G>T	c.(2179-2181)aaG>aaT	p.K727N	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Splice_Site_p.K754N	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	727					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGTTTTTACCTTTGACTGTT	0.393													8	209	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749994	33749994	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:33749994C>A	ENST00000394562.1	-	4	577	c.54G>T	c.(52-54)gtG>gtT	p.V18V	SLFN12_ENST00000304905.5_Silent_p.V18V|SLFN12_ENST00000452764.3_Silent_p.V18V			Q8IYM2	SLN12_HUMAN	schlafen family member 12	18							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGACTCTTCCCACATCTAGAA	0.403													6	177	---	---	---	---
SYNRG	11276	broad.mit.edu	37	17	35930983	35930983	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:35930983C>A	ENST00000339208.6	-	10	1240	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	SYNRG_ENST00000585472.1_Splice_Site_p.R288M|SYNRG_ENST00000345615.4_Splice_Site_p.R289M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Splice_Site_p.R289M|SYNRG_ENST00000394378.2_Splice_Site_p.R289M|SYNRG_ENST00000346661.4_Splice_Site_p.R367M|SYNRG_ENST00000591288.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	367	EH.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAACGCCCCTCTACAAATG	0.433													6	162	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37627429	37627429	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:37627429C>A	ENST00000447079.4	+	2	1377	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	CDK12_ENST00000430627.2_Silent_p.P448P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	448					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACCCAGAAGTGTAA	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			5	95	---	---	---	---
CASC3	22794	broad.mit.edu	37	17	38325650	38325650	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:38325650C>A	ENST00000264645.7	+	12	2265	c.2039C>A	c.(2038-2040)cCa>cAa	p.P680Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	680	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGCCCTCCCCACCCCGGAGG	0.582													6	101	---	---	---	---
HAP1	9001	broad.mit.edu	37	17	39881202	39881202	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:39881202G>T	ENST00000393939.2	-	10	1545	c.1536C>A	c.(1534-1536)acC>acA	p.T512T	HAP1_ENST00000310778.5_Silent_p.T589T|HAP1_ENST00000347901.4_Silent_p.T537T|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Silent_p.T520T			P54257	HAP1_HUMAN	huntingtin-associated protein 1	589	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.T537T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCAGCCCTCGGTCTCCTCTG	0.652													8	358	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40453403	40453403	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40453403C>A	ENST00000345506.4	+	10	1742	c.1100C>A	c.(1099-1101)cCc>cAc	p.P367H	STAT5A_ENST00000590949.1_Missense_Mutation_p.P367H|STAT5A_ENST00000452307.2_Missense_Mutation_p.P367H|STAT5A_ENST00000588868.1_Missense_Mutation_p.P367H|STAT5A_ENST00000546010.2_Missense_Mutation_p.P337H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	367					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ATGAATCCCCCCCAGGTGAAG	0.567													6	83	---	---	---	---
ATP6V0A1	535	broad.mit.edu	37	17	40647096	40647096	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40647096G>T	ENST00000343619.4	+	13	1482	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.M99I|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.M410I|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.M453I|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.M460I	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	453					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTTTATTGATGGGTGTGTTCT	0.413													9	214	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40864402	40864402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:40864402C>A	ENST00000428826.2	-	12	1427	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	EZH1_ENST00000415827.2_Missense_Mutation_p.G427W|EZH1_ENST00000590078.1_Missense_Mutation_p.G366W|EZH1_ENST00000592743.1_Missense_Mutation_p.G436W|EZH1_ENST00000435174.1_Missense_Mutation_p.G297W|EZH1_ENST00000585893.1_Missense_Mutation_p.G396W			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	436					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTTCAGCCCCAGTCCATTCC	0.537													6	136	---	---	---	---
DBF4B	80174	broad.mit.edu	37	17	42828262	42828262	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:42828262C>A	ENST00000315005.3	+	14	1627	c.1489C>A	c.(1489-1491)Cct>Act	p.P497T	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	497					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTCCTCTTCCCTGAAGCCAG	0.597													5	60	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43625833	43625833	+	RNA	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:43625833C>A	ENST00000586348.1	+	0	45																											GTCCAACCTCCGTAGTGGGTT	0.507													7	388	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44159892	44159892	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:44159892C>A	ENST00000262419.6	-	4	1918	c.1448G>T	c.(1447-1449)gGg>gTg	p.G483V	KANSL1_ENST00000575318.1_Missense_Mutation_p.G483V|KANSL1_ENST00000572904.1_Missense_Mutation_p.G483V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G483V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G483V	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	483						MLL1 complex	protein binding										AGGTACCTCCCCAAGAACTAT	0.388													5	36	---	---	---	---
HOXB3	3213	broad.mit.edu	37	17	46629480	46629480	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:46629480G>T	ENST00000470495.1	-	1	1804	c.357C>A	c.(355-357)ccC>ccA	p.P119P	HOXB3_ENST00000311626.4_Silent_p.P119P|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000476342.1_Silent_p.P119P|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000472863.1_Silent_p.P46P|HOXB3_ENST00000489475.1_Silent_p.P46P|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000498678.1_Silent_p.P119P			P14651	HXB3_HUMAN	homeobox B3	119					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						AGTTGGTGCCGGGACCGCACT	0.602													9	303	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56688674	56688674	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:56688674C>A	ENST00000389934.3	-	10	1149	c.1032G>T	c.(1030-1032)atG>atT	p.M344I	TEX14_ENST00000240361.8_Missense_Mutation_p.M350I|TEX14_ENST00000349033.5_Missense_Mutation_p.M344I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	350	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAATCACCTCCATGTGCAGCA	0.507													6	84	---	---	---	---
ACE	1636	broad.mit.edu	37	17	61562656	61562656	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:61562656C>A	ENST00000577647.1	+	2	304	c.259C>A	c.(259-261)Cag>Aag	p.Q87K	ACE_ENST00000490216.2_Missense_Mutation_p.Q87K|ACE_ENST00000290866.4_Missense_Mutation_p.Q661K|ACE_ENST00000421982.2_5'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.Q661K|ACE_ENST00000290863.6_Missense_Mutation_p.Q87K|ACE_ENST00000413513.3_Missense_Mutation_p.Q87K			P12821	ACE_HUMAN	angiotensin I converting enzyme	661	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCGGACATCCCAGGTGGTGTG	0.567													5	54	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62022837	62022837	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62022837G>T	ENST00000435607.1	-	19	3679	c.3603C>A	c.(3601-3603)tcC>tcA	p.S1201S	SCN4A_ENST00000578147.1_Silent_p.S1201S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1201					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTTGACCTCGGAGATGTCGA	0.537													6	316	---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62492936	62492936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:62492936C>A	ENST00000539111.2	-	1	218	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	51					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCGTTCCCCTCGAGCTCCGCG	0.607													5	160	---	---	---	---
SOX9	6662	broad.mit.edu	37	17	70119738	70119738	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:70119738C>A	ENST00000245479.2	+	3	1112	c.740C>A	c.(739-741)cCg>cAg	p.P247Q		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	247					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GACGTGCAGCCGGGCAAGGCT	0.632													5	190	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73658781	73658781	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:73658781C>A	ENST00000420326.2	-	4	708	c.549G>T	c.(547-549)ctG>ctT	p.L183L	RECQL5_ENST00000423245.2_Silent_p.L156L|RECQL5_ENST00000584999.1_Silent_p.L183L|RECQL5_ENST00000317905.5_Silent_p.L183L|RECQL5_ENST00000340830.5_Silent_p.L183L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	183	Helicase ATP-binding.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGGCATGTCCCAGGCGGGAGC	0.577								Other identified genes with known or suspected DNA repair function					8	244	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78354681	78354681	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:78354681G>T	ENST00000582970.1	+	56	13834	c.13691G>T	c.(13690-13692)cGg>cTg	p.R4564L	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4613L|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2637L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AACCCGCAGCGGAGAGACGTG	0.607													5	263	---	---	---	---
ALYREF	10189	broad.mit.edu	37	17	79848574	79848574	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:79848574G>T	ENST00000331204.4	-	2	386	c.360C>A	c.(358-360)gcC>gcA	p.A120A	ALYREF_ENST00000505490.2_Silent_p.A127A|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	120	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CCTGAATATCGGCGTCTGAGA	0.592													5	91	---	---	---	---
MC5R	4161	broad.mit.edu	37	18	13826433	13826433	+	Silent	SNP	C	C	A	rs142471410		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:13826433C>A	ENST00000324750.3	+	1	891	c.669C>A	c.(667-669)ccC>ccA	p.P223P		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.P223P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGGCTCTGCCCGGGGCCAGCT	0.622													6	274	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50848421	50848421	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:50848421G>T	ENST00000442544.2	+	14	2674	c.2058G>T	c.(2056-2058)ctG>ctT	p.L686L	DCC_ENST00000581580.1_Silent_p.L341L|DCC_ENST00000412726.1_Silent_p.L534L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	686	Fibronectin type-III 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCATAGGACTGGAGAAAGGAA	0.438													5	99	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54591261	54591261	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr18:54591261G>T	ENST00000254442.3	+	22	3846	c.3635G>T	c.(3634-3636)tGg>tTg	p.W1212L	WDR7_ENST00000357574.3_Missense_Mutation_p.W1179L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1212										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCACTGTTTGGGAGCCTTAC	0.502													6	165	---	---	---	---
MCOLN1	57192	broad.mit.edu	37	19	7595295	7595295	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7595295C>A	ENST00000264079.6	+	12	1608	c.1483C>A	c.(1483-1485)Cag>Aag	p.Q495K		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	495					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTCTTCTCCCAGCTCTACCT	0.587													8	349	---	---	---	---
FCER2	2208	broad.mit.edu	37	19	7764643	7764643	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:7764643C>A	ENST00000346664.5	-	2	216	c.4G>T	c.(4-6)Gag>Tag	p.E2*	FCER2_ENST00000597921.1_Nonsense_Mutation_p.E2*	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	2					positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						TGACCTTCCTCCATGGCGGTC	0.542													6	73	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9050229	9050229	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:9050229C>A	ENST00000397910.4	-	5	31605	c.31402G>T	c.(31402-31404)Ggg>Tgg	p.G10468W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10470	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTTTGTCCCTCCTGTGTGT	0.468													7	305	---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10445903	10445903	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:10445903C>A	ENST00000589261.1	-	4	1077	c.545G>T	c.(544-546)gGg>gTg	p.G182V	ICAM3_ENST00000160262.5_Missense_Mutation_p.G259V			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	259	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CATCTGGTCCCCCAGCGCCAG	0.662													7	170	---	---	---	---
ZNF69	7620	broad.mit.edu	37	19	12015573	12015573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:12015573C>A	ENST00000429654.2	+	4	501	c.361C>A	c.(361-363)Cct>Act	p.P121T	ZNF69_ENST00000340180.5_Missense_Mutation_p.P107T			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAAAGCTTCTCCTGAAATAAA	0.398													6	193	---	---	---	---
C19orf57	79173	broad.mit.edu	37	19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000454313.1	-	3	144	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547													8	232	---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15512026	15512026	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:15512026C>A	ENST00000397410.5	-	5	881	c.751G>T	c.(751-753)Ggg>Tgg	p.G251W	AKAP8L_ENST00000595465.2_Missense_Mutation_p.G190W|AKAP8L_ENST00000595879.1_5'UTR	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTGCCAAACCCGAAACCAAAG	0.627													8	298	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18775156	18775156	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18775156C>A	ENST00000300976.4	+	2	259	c.169C>A	c.(169-171)Cgc>Agc	p.R57S	KLHL26_ENST00000599006.1_Missense_Mutation_p.R57S|KLHL26_ENST00000595182.1_Missense_Mutation_p.R57S|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	57										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCCTCCGCGCTCAGGG	0.632													5	187	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19741286	19741286	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:19741286C>A	ENST00000203556.4	-	20	2670	c.2533G>T	c.(2533-2535)Ggg>Tgg	p.G845W	GMIP_ENST00000587238.1_Missense_Mutation_p.G819W|GMIP_ENST00000445806.2_Missense_Mutation_p.G816W	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	845					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCTTCCCCTCCCCCATCT	0.537													7	115	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769525	31769525	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:31769525C>A	ENST00000240587.4	-	2	1501	c.1174G>T	c.(1174-1176)Ggg>Tgg	p.G392W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	392					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGCGAGCTCCCACACTCCATG	0.547													6	187	---	---	---	---
SLC7A10	56301	broad.mit.edu	37	19	33706825	33706825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:33706825G>T	ENST00000253188.4	-	2	352	c.206C>A	c.(205-207)tCa>tAa	p.S69*		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CACGGAGCCTGAGTGCTCCAG	0.667													4	30	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34884859	34884859	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:34884859C>A	ENST00000415930.3	+	12	1153	c.983C>A	c.(982-984)cCc>cAc	p.P328H	GPI_ENST00000586425.1_Missense_Mutation_p.P317H|GPI_ENST00000356487.5_Missense_Mutation_p.P317H	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	317					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AAGAACGCCCCCGTCTTGCTG	0.617													6	151	---	---	---	---
MAG	4099	broad.mit.edu	37	19	35786796	35786796	+	Silent	SNP	C	C	A	rs11550209		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:35786796C>A	ENST00000361922.4	+	4	477	c.327C>A	c.(325-327)ccC>ccA	p.P109P	MAG_ENST00000597035.1_Intron|MAG_ENST00000537831.2_Silent_p.P84P|MAG_ENST00000392213.3_Silent_p.P109P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	109	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACGTCAGCCCCGAGCTGGGCG	0.647													5	188	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGTGGTCACCCGTTACCATGA	0.602													6	206	---	---	---	---
FAM98C	147965	broad.mit.edu	37	19	38895577	38895577	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:38895577C>A	ENST00000252530.5	+	4	398	c.379C>A	c.(379-381)Cgc>Agc	p.R127S	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000343358.7_Missense_Mutation_p.R127S|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	127										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAAGCCACCCGCCTCCTGTG	0.572													7	282	---	---	---	---
ACTN4	81	broad.mit.edu	37	19	39219698	39219698	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39219698C>A	ENST00000252699.2	+	20	2557	c.2481C>A	c.(2479-2481)acC>acA	p.T827T	ACTN4_ENST00000497637.1_3'UTR|ACTN4_ENST00000390009.3_Silent_p.T608T|ACTN4_ENST00000424234.2_Silent_p.T437T	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	827	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCTTGTGACCTTCCAAGCCT	0.597													6	153	---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39870679	39870679	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39870679C>A	ENST00000314471.6	+	12	2639	c.1604C>A	c.(1603-1605)cCg>cAg	p.P535Q	SAMD4B_ENST00000598913.1_Missense_Mutation_p.P535Q|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	535							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGGACATTCCCGCGCAAAGCC	0.577													4	41	---	---	---	---
SHKBP1	92799	broad.mit.edu	37	19	41096743	41096743	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:41096743C>A	ENST00000291842.5	+	17	1925	c.1876C>A	c.(1876-1878)Cgc>Agc	p.R626S	SHKBP1_ENST00000600733.1_Missense_Mutation_p.R601S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	626						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCCTCACCCCGCATCTCCCT	0.647													4	71	---	---	---	---
CEACAM5	1048	broad.mit.edu	37	19	42222166	42222166	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:42222166G>T	ENST00000221992.6	+	6	1471	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	CEACAM5_ENST00000405816.1_Missense_Mutation_p.G453W|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G452W|CEA_ENST00000598976.1_Intron	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	453	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GCTGATTGATGGGAACATCCA	0.517													5	89	---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43031277	43031277	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43031277G>T	ENST00000161559.6	-	2	474	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000351134.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.Q114K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.Q114K|CEACAM1_ENST00000403444.3_Missense_Mutation_p.Q114K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.Q74K	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	114	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GTGTCATTCTGGGTGACGTTC	0.473													9	412	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43243013	43243013	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43243013C>A	ENST00000327495.5	-	2	477	c.293G>T	c.(292-294)cGa>cTa	p.R98L	PSG3_ENST00000490592.1_5'UTR|PSG3_ENST00000595140.1_Missense_Mutation_p.R98L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTGTTTCTCGTCCACTGTA	0.448													8	567	---	---	---	---
PSG8	440533	broad.mit.edu	37	19	43268158	43268158	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43268158G>T	ENST00000404209.4	-	2	436	c.340C>A	c.(340-342)Cag>Aag	p.Q114K	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q114K|PSG8_ENST00000401467.2_Missense_Mutation_p.Q114K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	114	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GCGTCTTCCTGGGTGACATTC	0.418													8	479	---	---	---	---
PSG5	5673	broad.mit.edu	37	19	43680257	43680257	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:43680257G>T	ENST00000404580.1	-	3	562	c.474C>A	c.(472-474)ccC>ccA	p.P158P	PSG5_ENST00000407356.1_Silent_p.P158P|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.P158P|PSG5_ENST00000366175.3_Silent_p.P158P|PSG5_ENST00000599812.1_Silent_p.P251P			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	158	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P158P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TATTCTCCCTGGGTTTTGAGT	0.493													10	348	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49646129	49646129	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:49646129G>T	ENST00000334186.4	+	21	2962	c.2613G>T	c.(2611-2613)atG>atT	p.M871I	PPFIA3_ENST00000602351.1_Missense_Mutation_p.M871I	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	871	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGCCATCATGGCCAACCTGT	0.642													5	96	---	---	---	---
KLK14	43847	broad.mit.edu	37	19	51585865	51585865	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51585865G>T	ENST00000391802.1	-	3	273	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	KLK14_ENST00000156499.2_Missense_Mutation_p.L19I	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	19					epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		GTCAGCAGGAGGAACATTTTA	0.537													5	84	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51960476	51960476	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51960476C>A	ENST00000321424.3	-	3	809	c.743G>T	c.(742-744)tGg>tTg	p.W248L	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.W155L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	248	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGTCAAGTTCCAAGGAGGGTC	0.562													6	89	---	---	---	---
ZNF816	125893	broad.mit.edu	37	19	53456131	53456131	+	Splice_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:53456131C>A	ENST00000357666.4	-	4	364		c.e4-1		ZNF816_ENST00000535506.1_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000391786.2_Intron|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TCAAGCGTCCCTAAAATAAAA	0.413													6	139	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086232	55086232	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55086232C>A	ENST00000251377.3	+	5	520	c.387C>A	c.(385-387)ccC>ccA	p.P129P	LILRA2_ENST00000391738.3_Silent_p.P129P|LILRA2_ENST00000251376.3_Silent_p.P129P|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.P117P|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CAGCTCTGCCCAGCCCTGTGG	0.562													6	165	---	---	---	---
NLRP2	55655	broad.mit.edu	37	19	55481486	55481486	+	Missense_Mutation	SNP	C	C	A	rs140778052	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:55481486C>A	ENST00000543010.1	+	2	246	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	NLRP2_ENST00000391721.4_Missense_Mutation_p.L35M|NLRP2_ENST00000448584.2_Missense_Mutation_p.L35M|NLRP2_ENST00000263437.6_Missense_Mutation_p.L35M|NLRP2_ENST00000537859.1_Missense_Mutation_p.L35M|NLRP2_ENST00000427260.2_Missense_Mutation_p.L35M|NLRP2_ENST00000339757.7_Missense_Mutation_p.L35M|NLRP2_ENST00000538819.1_Missense_Mutation_p.L35M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	35	DAPIN.			L -> P (in Ref. 1; AAG15253).	apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GACCTTCTCCCTGGCACACGA	0.552													6	100	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443													27	60	---	---	---	---
ZNF274	10782	broad.mit.edu	37	19	58723010	58723010	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:58723010C>A	ENST00000326804.4	+	8	1393	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	ZNF274_ENST00000345813.3_Missense_Mutation_p.R280S|ZNF274_ENST00000424679.2_Missense_Mutation_p.R207S|ZNF274_ENST00000597818.1_3'UTR	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	313	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.R280S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GACCGAGTACCGCGATGTGAT	0.617													5	135	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1435726	1435726	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:1435726G>T	ENST00000216879.4	-	4	1197	c.330C>A	c.(328-330)ccC>ccA	p.P110P	NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.P112P|NSFL1C_ENST00000476071.1_Silent_p.P112P|NSFL1C_ENST00000353088.2_Silent_p.P110P|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	110						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCTTCCTGGGAGGGCCAA	0.488													8	343	---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16410600	16410600	+	Translation_Start_Site	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:16410600C>A	ENST00000378003.2	-	0	1487				KIF16B_ENST00000354981.2_Missense_Mutation_p.G444W|KIF16B_ENST00000408042.1_Missense_Mutation_p.G444W|KIF16B_ENST00000355755.3_Missense_Mutation_p.G444W			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTCCAATCCCTTCTTTCCTG	0.363													6	79	---	---	---	---
NAA20	51126	broad.mit.edu	37	20	20006388	20006388	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:20006388C>A	ENST00000398602.2	+	3	745	c.110C>A	c.(109-111)cCt>cAt	p.P37H	NAA20_ENST00000310450.4_Missense_Mutation_p.P49H|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Missense_Mutation_p.P49H	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	49	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GCAGAGGCACCTGGTGGAGAA	0.383													6	194	---	---	---	---
TGIF2	60436	broad.mit.edu	37	20	35219499	35219499	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:35219499C>A	ENST00000373874.2	+	3	578	c.379C>A	c.(379-381)Ctg>Atg	p.L127M	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.L127M|TGIF2-C20orf24_ENST00000558530.1_Intron	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	127	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGTGCTCTCCCTGTCTGTGTG	0.672													6	120	---	---	---	---
DHX35	60625	broad.mit.edu	37	20	37634887	37634887	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:37634887C>A	ENST00000252011.3	+	12	1143	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	DHX35_ENST00000373325.2_Silent_p.P370P|DHX35_ENST00000373323.4_Silent_p.P339P	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	370	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCTACAATCCCAGGACAGCTA	0.517													7	329	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40161771	40161771	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:40161771G>T	ENST00000373233.3	-	3	649	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	CHD6_ENST00000309279.7_Silent_p.R158R|CHD6_ENST00000373222.3_Silent_p.R193R	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	158	Lys-rich.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGCCTCCCGGGGCTTCCGT	0.587													7	260	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43034706	43034706	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:43034706C>A	ENST00000316099.4	+	2	213	c.124C>A	c.(124-126)Cca>Aca	p.P42T	HNF4A_ENST00000415691.2_Missense_Mutation_p.P42T|HNF4A_ENST00000443598.2_Missense_Mutation_p.P42T|HNF4A_ENST00000457232.1_Missense_Mutation_p.P20T|HNF4A_ENST00000316673.4_Missense_Mutation_p.P20T|HNF4A_ENST00000609795.1_Missense_Mutation_p.P20T	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGACACGTCCCCATCAGAAGG	0.632													10	251	---	---	---	---
ELMO2	63916	broad.mit.edu	37	20	45012124	45012124	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:45012124C>A	ENST00000372176.1	-	10	891	c.423G>T	c.(421-423)caG>caT	p.Q141H	ELMO2_ENST00000290246.6_Missense_Mutation_p.Q229H|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.Q229H|ELMO2_ENST00000445496.2_Missense_Mutation_p.Q46H|ELMO2_ENST00000352077.2_Missense_Mutation_p.Q227H|ELMO2_ENST00000396391.1_Missense_Mutation_p.Q229H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	229					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCTGAATCTCCTGGTTGGAGC	0.428													8	174	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61511007	61511007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61511007C>A	ENST00000266070.4	-	16	6626	c.6301G>T	c.(6301-6303)Gag>Tag	p.E2101*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E2101*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2101					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCGGGCTCCTCCAGCGGCTTC	0.677													8	258	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513279	61513279	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr20:61513279G>T	ENST00000266070.4	-	16	4354	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	DIDO1_ENST00000395343.1_Silent_p.P1343P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1343					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCTCCTGGGGGAGACCTG	0.582													7	168	---	---	---	---
C21orf62	56245	broad.mit.edu	37	21	34166417	34166417	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:34166417G>T	ENST00000536776.1	-	2	456	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	C21orf62_ENST00000479548.1_Missense_Mutation_p.L106M|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L106M|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000487113.1_Missense_Mutation_p.L106M	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GTGCTGCACAGGGAAAGCTTC	0.562													5	62	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40568278	40568278	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40568278C>A	ENST00000342449.3	-	41	6795	c.6717G>T	c.(6715-6717)acG>acT	p.T2239T	BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T2239T(1)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTGATTTCTCGTTTTTATTT	0.393													5	260	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40630419	40630419	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:40630419G>T	ENST00000342449.3	-	18	2143	c.2065C>A	c.(2065-2067)Cgg>Agg	p.R689R	BRWD1_ENST00000380800.3_Silent_p.R689R|BRWD1_ENST00000333229.2_Silent_p.R689R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTACCTCTCCGGGGTGTTTCT	0.388													5	181	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43281789	43281789	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr21:43281789C>A	ENST00000269844.3	-	7	884	c.774G>T	c.(772-774)ctG>ctT	p.L258L	PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGCTCATCCCCAGCAGCTTGA	0.512													5	74	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26422472	26422472	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:26422472C>A	ENST00000335473.7	+	43	6782	c.6532C>A	c.(6532-6534)Cgg>Agg	p.R2178R	MYO18B_ENST00000407587.2_Silent_p.R2179R|MYO18B_ENST00000536101.1_Silent_p.R2178R	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2178						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGCAGAGCCCGGTCCACCAA	0.537													5	183	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36718479	36718479	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:36718479G>T	ENST00000216181.5	-	6	930	c.700C>A	c.(700-702)Cgc>Agc	p.R234S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	234	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCACGAAGCGGGAGGAGTTG	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				5	86	---	---	---	---
PKDREJ	10343	broad.mit.edu	37	22	46658320	46658320	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:46658320C>A	ENST00000253255.5	-	1	899	c.900G>T	c.(898-900)tgG>tgT	p.W300C		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	300	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			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)		CATACACTCCCCACTGTAACG	0.552													7	245	---	---	---	---
TTLL8	164714	broad.mit.edu	37	22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607													5	27	---	---	---	---
STS	412	broad.mit.edu	37	X	7171276	7171276	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:7171276G>T	ENST00000217961.4	+	2	271	c.51G>T	c.(49-51)tgG>tgT	p.W17C		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	17					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCTTTCTGTGGGAAGCCGAGA	0.493									Ichthyosis				4	29	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18775837	18775837	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:18775837C>A	ENST00000361511.4	+	8	983	c.489C>A	c.(487-489)ccC>ccA	p.P163P	PPEF1_ENST00000544635.1_Silent_p.P98P|PPEF1_ENST00000359763.6_Silent_p.P110P|PPEF1_ENST00000349874.5_Silent_p.P163P|PPEF1_ENST00000543630.1_Silent_p.P163P	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	163	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAACTTCTCCCTCCAAAGAGG	0.408													6	108	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24229057	24229057	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:24229057C>A	ENST00000379177.1	+	11	2409	c.1982C>A	c.(1981-1983)cCc>cAc	p.P661H	ZFX_ENST00000540034.1_Missense_Mutation_p.P700H|ZFX_ENST00000539115.1_Missense_Mutation_p.P432H|ZFX_ENST00000379188.3_Missense_Mutation_p.P661H|ZFX_ENST00000304543.5_Missense_Mutation_p.P661H|ZFX_ENST00000338565.3_Missense_Mutation_p.P611H	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AAAGACTACCCCCATAAGTGT	0.438													5	64	---	---	---	---
SSX5	6758	broad.mit.edu	37	X	48049696	48049696	+	Silent	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:48049696G>T	ENST00000311798.1	-	7	514	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SSX5_ENST00000347757.1_Silent_p.P113P|SSX5_ENST00000376923.1_Silent_p.P113P	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGGCTTCTCGGGCGTGATCT	0.433													5	168	---	---	---	---
FOXR2	139628	broad.mit.edu	37	X	55651014	55651014	+	Silent	SNP	T	T	G			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493													17	15	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74637002	74637002	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:74637002G>T	ENST00000541184.1	-	9	1337	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZDHHC15_ENST00000373361.3_3'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.P296H	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	296						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGACCTCATAGGGAAGGAGTG	0.443													6	95	---	---	---	---
ATP7A	538	broad.mit.edu	37	X	77254141	77254141	+	Silent	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:77254141C>A	ENST00000341514.6	+	5	1658	c.1503C>A	c.(1501-1503)tcC>tcA	p.S501S	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.S501S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	501	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTTGCGCTTCCTGTGTAGCAA	0.403													6	134	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79937586	79937586	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:79937586C>A	ENST00000373275.4	-	39	4621	c.4405G>T	c.(4405-4407)Ggg>Tgg	p.G1469W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1469										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCTGCTTCCCTTTTGGACTA	0.358													5	46	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135428404	135428404	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:135428404C>A	ENST00000394143.1	+	6	2830	c.2539C>A	c.(2539-2541)Cat>Aat	p.H847N	GPR112_ENST00000412101.1_Missense_Mutation_p.H642N|GPR112_ENST00000394141.1_Missense_Mutation_p.H642N|GPR112_ENST00000287534.4_Missense_Mutation_p.H784N|GPR112_ENST00000370652.1_Missense_Mutation_p.H847N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	847					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCAACTTCCCATTATCTTAT	0.418													6	119	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149638074	149638074	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:149638074G>T	ENST00000370401.2	+	4	539	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W	MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G77W|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G52W|MAMLD1_ENST00000432680.2_Missense_Mutation_p.G52W			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	77					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G5fs*36(1)|p.G78fs*36(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CATGGCTGATGGGGGCTACCC	0.493													5	77	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gagfs	p.E897fs	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGGCCCTTTCTCATCCAGCA	0.493													9	1785	---	---	---	---
NT5DC3	51559	broad.mit.edu	37	12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441													8	89	---	---	---	---
ZNF568	374900	broad.mit.edu	37	19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000415168.1	+	5	753_756	c.377_380delACTT	c.(376-381)gacttafs	p.DL126fs	ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363													34	93	---	---	---	---
