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
CROCC	9696	broad.mit.edu	37	1	17296756	17296756	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:17296756G>A	uc001azt.2	+	33	5529	c.5460G>A	c.(5458-5460)cgG>cgA	p.R1820R	CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1820					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGTGCTGCGGCAGCGGCAGG	0.657												
HCRTR1	3061	broad.mit.edu	37	1	32086485	32086485	+	Silent	SNP	C	C	T	rs140406432		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:32086485C>T	uc009vtx.2	+	4	805	c.420C>T	c.(418-420)atC>atT	p.I140I	HCRTR1_uc001btc.4_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.2_Silent_p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	140					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCAGCTTCATCGCCCTGGACC	0.627												
PABPC4	8761	broad.mit.edu	37	1	40038250	40038250	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:40038250C>T	uc001cdl.2	-	1	1100	c.202G>A	c.(202-204)Gct>Act	p.A68T	PABPC4_uc010oiv.1_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	68	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTCCAAAGCCCGCTCAGCT	0.463												
CYP4X1	260293	broad.mit.edu	37	1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47512186C>T	uc001cqt.3	+	8	1371	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CYP4X1_uc001cqr.3_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.3_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCAAGGAGACGTGCCGATTG	0.493												
CYP4A22	284541	broad.mit.edu	37	1	47606460	47606460	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47606460C>T	uc001cqv.1	+	1	255	c.204C>T	c.(202-204)caC>caT	p.H68H	CYP4A22_uc009vyo.3_Silent_p.H68H|CYP4A22_uc009vyp.3_Silent_p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	68						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCCAACACGACCAGGAGC	0.498												
CDKN2C	1031	broad.mit.edu	37	1	51439583	51439583	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:51439583delC	uc001csf.3	+	2	2123	c.148delC	c.(148-150)cccfs	p.P50fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	50					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACTTGGAAATCCCGAGATTGC	0.428			D		"""glioma, MM"""							
FCRLA	84824	broad.mit.edu	37	1	161682005	161682005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:161682005C>T	uc001gbe.3	+	4	1092	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	FCRLA_uc001gbg.3_Nonsense_Mutation_p.Q138*|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.3_Nonsense_Mutation_p.Q189*|FCRLA_uc009wuo.3_Nonsense_Mutation_p.Q144*	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	261	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATCAGAGTGCAGGGTGAGTT	0.527												
RYR2	6262	broad.mit.edu	37	1	237754030	237754030	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:237754030A>G	uc001hyl.1	+	30	4018	c.3898A>G	c.(3898-3900)Atg>Gtg	p.M1300V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1300	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	p.F1299Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTGATATCATGTTTTATCG	0.522												
KIF5B	3799	broad.mit.edu	37	10	32306085	32306085	+	Missense_Mutation	SNP	T	T	C			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:32306085T>C	uc001iwe.4	-	23	3217	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	916	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGCAGAATGCCCTCTTCT	0.383			T	"""RET, ALK"""	NSCLC							
PTEN	5728	broad.mit.edu	37	10	89720857	89720857	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:89720857C>A	uc001kfb.3	+	7	2040	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*7(1)|p.R335G(1)|p.Y336F(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAACCGATACTTTTCTCCAA	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
SLC6A13	6540	broad.mit.edu	37	12	333249	333249	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:333249G>A	uc001qic.2	-	10	1310	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	SLC6A13_uc009zdj.2_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	407					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACGTGAGGGTACATGTC	0.562												
SLCO1B3	338821	broad.mit.edu	37	12	21201718	21201718	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:21201718C>T	uc010sil.2	+						SLCO1B3_uc010sim.2_Missense_Mutation_p.S403F|SLCO1B3_uc010sin.2_Missense_Mutation_p.S356F			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCAAATTGTCTTTAGTTGGA	0.353												
E2F7	144455	broad.mit.edu	37	12	77426878	77426878	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:77426878A>G	uc001sym.4	-	8	1570	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	E2F7_uc009zse.3_5'Flank	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	445					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGCTTCCAATTTCTAAAGA	0.353												
RPH3A	22895	broad.mit.edu	37	12	113313505	113313505	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:113313505C>T	uc010syl.2	+	11	1267	c.905C>T	c.(904-906)cCg>cTg	p.P302L	RPH3A_uc001ttz.3_Missense_Mutation_p.P302L|RPH3A_uc001tty.3_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.2_Missense_Mutation_p.P253L|RPH3A_uc001tua.3_Missense_Mutation_p.P62L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	302	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.G301R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAAGCAGACCGGGTCCTGGG	0.577												
SLC7A1	6541	broad.mit.edu	37	13	30110213	30110213	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:30110213A>G	uc001uso.3	-	2	500	c.113T>C	c.(112-114)gTg>gCg	p.V38A		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	38					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCGAGGGCCACCAGATCAAA	0.627												
SPERT	220082	broad.mit.edu	37	13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:46287863G>A	uc001van.1	+	2	783	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	235						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677												
C15orf2	23742	broad.mit.edu	37	15	24921157	24921157	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:24921157G>A	uc001ywo.3	+	0	617	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	48					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCTTTCCGCGGCCTGTTC	0.761												
SPPL2A	84888	broad.mit.edu	37	15	51031880	51031880	+	Silent	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:51031880A>G	uc001zyv.3	-	5	910	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	244						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTCTTACCCAACCATTTGTAG	0.308												
LARP6	55323	broad.mit.edu	37	15	71128745	71128745	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:71128745G>A	uc002ass.3	-	1	371	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	100	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGAATTCGATCTGATCCA	0.502												
MSLNL	401827	broad.mit.edu	37	16	820272	820272	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:820272C>T	uc002cjz.1	-	14	2713	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	MIR662_uc021tac.1_Non-coding_Transcript	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	554					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCGCAGTCACGTTGCCAACA	0.692												
OSGIN1	29948	broad.mit.edu	37	16	83994249	83994249	+	Missense_Mutation	SNP	C	C	T	rs62640906	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:83994249C>T	uc002fha.3	+	4	529	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	OSGIN1_uc002fhb.3_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.3_Missense_Mutation_p.R94C	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	177					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCCCTTCTACGCCCAGACAC	0.632												
OR3A4P	390756	broad.mit.edu	37	17	3214529	3214529	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:3214529G>A	uc002fvi.2	+	0	991	c.925G>A	c.(925-927)Gat>Aat	p.D309N						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.									p.D309N(1)									CTGTTCCTCCGATGCTGGCGT	0.587												
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SPAG5	124923	broad.mit.edu	37	17	26939067	26939067	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:26939067C>T	uc010crq.2	-	6	720	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Missense_Mutation_p.V230M	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	1019					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTACCTTCACATCTCGATGC	0.443												
KIF2B	84643	broad.mit.edu	37	17	51901460	51901460	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:51901460T>A	uc002iua.2	+	0	1222	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	356	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATGGGACATTTTTTGAGAT	0.453												
USH1G	124590	broad.mit.edu	37	17	72916669	72916669	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:72916669C>T	uc002jme.1	-	1	445	c.262G>A	c.(262-264)Gga>Aga	p.G88R	USH1G_uc010wro.1_5'UTR	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	88					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTTGGCTCCGAAGGACACC	0.602												
DNAH17	8632	broad.mit.edu	37	17	76502887	76502887	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:76502887G>A	uc010dhp.2	-	29	4843	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.T1570M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTCTTTTCGTCTCTAAATA	0.557												
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358												
POLRMT	5442	broad.mit.edu	37	19	619972	619972	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:619972C>T	uc002lpf.1	-	11	2928	c.2872G>A	c.(2872-2874)Ggc>Agc	p.G958S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	958	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	p.G958S(2)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCCACGCCGCTGTACACG	0.701												
SIPA1L3	23094	broad.mit.edu	37	19	38655177	38655177	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:38655177G>T	uc002ohk.3	+	14	4348	c.3839G>T	c.(3838-3840)aGc>aTc	p.S1280I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1280					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACGCATCCAGCAGCCACAGC	0.607												
LILRB2	10288	broad.mit.edu	37	19	54780739	54780739	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54780739C>T	uc002qfb.3	-	9	1671	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V469I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V468I|LILRB2_uc010yet.2_Missense_Mutation_p.V353I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	469					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		agtaggaCGACGGCCACCAAG	0.577												
LENG8	114823	broad.mit.edu	37	19	54967251	54967251	+	Silent	SNP	T	T	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54967251T>G	uc002qfv.1	+	7	1164	c.1020T>G	c.(1018-1020)ggT>ggG	p.G340G	LENG8_uc002qfw.2_Silent_p.G377G			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	340							protein binding	p.G377G(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGGGCGGGGGTGCCCCGTCCC	0.687												
LILRB1	10859	broad.mit.edu	37	19	55146136	55146136	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:55146136G>A	uc002qgj.3	+	10	1745	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.3_Missense_Mutation_p.V469I|LILRB1_uc002qgk.3_Missense_Mutation_p.V470I|LILRB1_uc002qgm.3_Missense_Mutation_p.V470I|LILRB1_uc010erq.3_Missense_Mutation_p.V453I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	469					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTGGTGGCCGTCAtcctact	0.577										HNSCC(37;0.09)		
TEKT4	150483	broad.mit.edu	37	2	95539765	95539765	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:95539765G>A	uc002stw.1	+	2	718	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	209					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAAGATGGAGGCCTACAACAT	0.652												
MARCO	8685	broad.mit.edu	37	2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:119752091G>A	uc002tln.1	+	16	1690	c.1558G>A	c.(1558-1560)Gtc>Atc	p.V520I	MARCO_uc010yyf.1_Missense_Mutation_p.V442I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	520					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V520I(6)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTGCAGCGTCTGACCCGG	0.602												
NEB	4703	broad.mit.edu	37	2	152484105	152484105	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:152484105C>T	uc021vrb.1	-	63	9375	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	NEB_uc002txu.3_Missense_Mutation_p.E3359K|NEB_uc021vrc.1_Missense_Mutation_p.E3359K|NEB_uc010fnx.3_Missense_Mutation_p.E3104K|NEB_uc021vrd.1_Missense_Mutation_p.E3116K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3116					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)		CACGTCCACTCGTGCAGGTAG	0.532												
LRP2	4036	broad.mit.edu	37	2	170044684	170044684	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:170044684C>T	uc002ues.3	-	48	9337	c.9124G>A	c.(9124-9126)Ggg>Agg	p.G3042R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3042	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGCAGCGCCCGTTCTGACAG	0.512												
TTN	7273	broad.mit.edu	37	2	179437646	179437646	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:179437646C>T	uc021vsy.1	-	274	65734	c.65509G>A	c.(65509-65511)Gaa>Aaa	p.E21837K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15532K|TTN_uc021vta.1_Missense_Mutation_p.E15465K|TTN_uc021vtb.1_Missense_Mutation_p.E15340K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22764	Fibronectin type-III 58.						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)			CCAAGTCCTTCGGAATTCATG	0.488												
ITGA4	3676	broad.mit.edu	37	2	182360569	182360569	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:182360569C>T	uc002unu.3	+	13	2208	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTAAATAGAACGAAATTTGAC	0.388												
BARD1	580	broad.mit.edu	37	2	215646041	215646041	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:215646041C>T	uc002veu.2	-	3	692	c.557G>A	c.(556-558)aGt>aAt	p.S186N	BARD1_uc021vwe.1_Missense_Mutation_p.S167N|BARD1_uc021vwf.1_Missense_Mutation_p.S89N|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.S42N|BARD1_uc021vwj.1_Missense_Mutation_p.S186N	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	186			S -> G (in dbSNP:rs16852741).		cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGGACTTGGGGAAAC	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome			
SPEG	10290	broad.mit.edu	37	2	220342016	220342016	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:220342016C>T	uc010fwg.3	+	19	4578	c.4578C>T	c.(4576-4578)acC>acT	p.T1526T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1526	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCTGACCGAGAGCAGCC	0.642												
TPTE	7179	broad.mit.edu	37	21	10951337	10951337	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:10951337C>T	uc002yip.1	-	9	743	c.375G>A	c.(373-375)gaG>gaA	p.E125E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	125					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGAACGATACTCCAAAGGAA	0.328												
KRTAP6-1	337966	broad.mit.edu	37	21	31986020	31986020	+	Silent	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:31986020G>T	uc002yop.3	-	0	204	c.204C>A	c.(202-204)ggC>ggA	p.G68G	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	68						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AATAATAGTAGCCAGAGCCAG	0.537												
ITSN1	6453	broad.mit.edu	37	21	35254584	35254584	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:35254584C>T	uc002yta.1	+	34	4647	c.4379C>T	c.(4378-4380)cCg>cTg	p.P1460L	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1460					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCTTGGGGCCGCGCAAATTT	0.473												
DIP2A	23181	broad.mit.edu	37	21	47957153	47957153	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:47957153C>T	uc002zjo.2	+	13	1842	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.3_Silent_p.N553N|DIP2A_uc002zjm.3_Silent_p.N553N|DIP2A_uc010gql.3_Silent_p.N510N|DIP2A_uc002zjn.3_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.3_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	553					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CATTAACAAACGTGCTGGATT	0.443												
SUSD2	56241	broad.mit.edu	37	22	24582099	24582099	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr22:24582099G>A	uc002zzn.1	+	8	1499	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	485	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGGTGCAGGCGCGGGCCCAGC	0.647												
FGD5	152273	broad.mit.edu	37	3	14861789	14861789	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:14861789C>T	uc003bzc.3	+	0	1321	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	FGD5_uc011avk.2_Missense_Mutation_p.A404V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	404					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGGTGGAGCGGCCGAGGGT	0.647												
COL7A1	1294	broad.mit.edu	37	3	48621742	48621742	+	Missense_Mutation	SNP	T	T	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:48621742T>G	uc003ctz.2	-	35	4187	c.4186A>C	c.(4186-4188)Aca>Cca	p.T1396P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1396	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCATGGCTGTTCCAGGAAGC	0.607												
CD86	942	broad.mit.edu	37	3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:121822548G>A	uc003eet.3	+	2	382	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423												
SLBP	7884	broad.mit.edu	37	4	1701407	1701407	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:1701407C>T	uc003gdi.1	-	4	478	c.363G>A	c.(361-363)atG>atA	p.M121I	SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	Homo sapiens stem-loop binding protein (SLBP), mRNA.	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			GCACAGTAGACATAGACTCCT	0.393												
ANK2	287	broad.mit.edu	37	4	114278539	114278539	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:114278539C>T	uc003ibe.4	+	37	8865	c.8765C>T	c.(8764-8766)cCa>cTa	p.P2922L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2889					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTATGATCCACAAATCACT	0.408												
ZFP42	132625	broad.mit.edu	37	4	188924445	188924445	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:188924445C>G	uc003izh.1	+	3	892	c.484C>G	c.(484-486)Cta>Gta	p.L162V	ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc021xvm.1_Missense_Mutation_p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	162					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGCATTGACCTATCAGATCC	0.453												
PCDHB16	57717	broad.mit.edu	37	5	140563779	140563779	+	Missense_Mutation	SNP	G	G	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:140563779G>T	uc003liv.3	+	0	2800	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	549	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGCTGGTGCT	0.711												
GABRG2	2566	broad.mit.edu	37	5	161580200	161580200	+	Silent	SNP	C	C	T	rs113085352		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:161580200C>T	uc010jjc.3	+	10	1732	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	GABRG2_uc003lyy.4_Silent_p.D418D|GABRG2_uc003lyz.4_Silent_p.D410D|GABRG2_uc011dej.2_Silent_p.D315D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.D418D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGTGTCTGGACGGCAAGGACT	0.463												
RFX6	222546	broad.mit.edu	37	6	117232121	117232121	+	Silent	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr6:117232121G>A	uc003pxm.3	+	6	759	c.696G>A	c.(694-696)tcG>tcA	p.S232S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAAATATTCGCTTAGCTCAA	0.343												
CD36	948	broad.mit.edu	37	7	80300317	80300317	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80300317C>T	uc003uhc.3	+	12	1527	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CD36_uc011kgv.2_Silent_p.S205S|CD36_uc003uhd.4_Silent_p.S281S|CD36_uc003uhe.4_Silent_p.S281S|CD36_uc003uhf.4_Silent_p.S281S|CD36_uc003uhg.4_Silent_p.S281S|CD36_uc003uhh.4_Silent_p.S281S|CD36_uc022agu.1_Silent_p.S242S|CD36_uc022agv.1_Silent_p.S221S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	281					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TATTTGAATCCGACGTTAATC	0.388												
SEMA3C	10512	broad.mit.edu	37	7	80434993	80434993	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80434993G>A	uc011kgw.2	-	6	753	c.674C>T	c.(673-675)gCg>gTg	p.A225V	SEMA3C_uc003uhj.3_Missense_Mutation_p.A207V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	207	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTTCTGACCGCATTCCTCTT	0.323												
TES	26136	broad.mit.edu	37	7	115892026	115892026	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:115892026C>T	uc003vho.3	+	4	1130	c.915C>T	c.(913-915)gaC>gaT	p.D305D	TES_uc011kmy.2_Silent_p.D63D|TES_uc003vhp.3_Silent_p.D296D|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	305	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGGCTGTGACGAGGTATGTT	0.478												
WEE2	494551	broad.mit.edu	37	7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:141408767C>T	uc003vwn.2	+	0	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	70					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517												
ARHGEF5	7984	broad.mit.edu	37	7	144060365	144060365	+	Missense_Mutation	SNP	T	T	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:144060365T>A	uc003wel.3	+	1	721	c.603T>A	c.(601-603)agT>agA	p.S201R	ARHGEF5_uc003wek.3_Missense_Mutation_p.S201R	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	201					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTGAAAGTGGGACTATCA	0.532												
DOCK5	80005	broad.mit.edu	37	8	25190203	25190203	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25190203G>A	uc003xeg.3	+	19	2223	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.3_Missense_Mutation_p.A266T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	696						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTGTTTGACGCACTGGTAAG	0.318												
DOCK5	80005	broad.mit.edu	37	8	25225732	25225732	+	Silent	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25225732C>T	uc003xeg.3	+	31	3386	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413												
NOV	4856	broad.mit.edu	37	8	120431487	120431487	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:120431487C>T	uc003yoq.2	+	3	900	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	227	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTCTCCACCCGGGTCACCAA	0.532												
CPSF1	29894	broad.mit.edu	37	8	145620691	145620691	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:145620691G>A	uc003zcj.3	-	26	3130	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1019					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.R1019C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTGCAGCGCAGCGGGATC	0.667												
UHRF2	115426	broad.mit.edu	37	9	6413501	6413501	+	Missense_Mutation	SNP	A	A	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:6413501A>G	uc003zjy.3	+	0	351	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	UHRF2_uc003zjz.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	4	Ubiquitin-like.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGTGGATACAGGTTCGCACC	0.662												
IPPK	64768	broad.mit.edu	37	9	95400529	95400529	+	Missense_Mutation	SNP	G	G	A	rs146634367		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:95400529G>A	uc004asl.1	-	8	947	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	224					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACGGGGCTCCGGGCATCTTTG	0.562												
CYBB	1536	broad.mit.edu	37	X	37668843	37668843	+	Silent	SNP	T	T	C			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:37668843T>C	uc004ddr.2	+	11	1546	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	495					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGTGCACCATGATGAGGAGA	0.398												
LOC100509575	280657	broad.mit.edu	37	X	47970682	47970682	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:47970682C>T	uc011mlv.2	+	3	295	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	LOC100509575_uc022bvt.1_Non-coding_Transcript	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN	Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.	75					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										GCGTAATAAACGGGCCACAGA	0.478												
GDPD2	54857	broad.mit.edu	37	X	69652284	69652284	+	Missense_Mutation	SNP	C	C	T			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:69652284C>T	uc011mpk.2	+	13	1949	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.R479C|GDPD2_uc011mpl.2_Missense_Mutation_p.R400C|GDPD2_uc011mpm.2_Missense_Mutation_p.R400C	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	479					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	p.R479C(1)|p.L530L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522												
NXF3	56000	broad.mit.edu	37	X	102337213	102337213	+	Missense_Mutation	SNP	G	G	A			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:102337213G>A	uc004eju.3	-	8	931	c.860C>T	c.(859-861)aCg>aTg	p.T287M	NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CGAGAAGGTCGTGCACACTGG	0.542												
IRS4	8471	broad.mit.edu	37	X	107978476	107978476	+	Missense_Mutation	SNP	C	C	G			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:107978476C>G	uc004eoc.2	-	0	1132	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	367						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCCGGCTCGAGCGGCACC	0.632												
