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
CAMTA1	23261	broad.mit.edu	37	1	7797314	7797314	+	Splice_Site	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:7797314G>A	uc001aoi.3	+	15	3550	c.3343_splice	c.e15-1	p.M1115_splice	CAMTA1_uc010nzv.1_Splice_Site_p.M202_splice|CAMTA1_uc001aok.4_Splice_Site_p.M158_splice|CAMTA1_uc001aoj.3_Splice_Site_p.M71_splice	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGTCTTCTAGATGTGGGCGT	0.557			T	WWTR1	epitheliod hemangioendothelioma							
SRGAP2	23380	broad.mit.edu	37	1	121116047	121116047	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:121116047G>C	uc001eis.2	+	2	281	c.213_splice	c.e2+1	p.K71_splice		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	234	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAAGGAGAAGGTATGTAGGC	0.522												
GJA8	2703	broad.mit.edu	37	1	147380445	147380445	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:147380445C>T	uc021ovm.1	+	0	363	c.363C>T	c.(361-363)aaC>aaT	p.N121N	GJA8_uc001epu.2_Silent_p.N121N	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	121					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGGGGACTAACGGCGGCCCGG	0.657												
UBAP2L	9898	broad.mit.edu	37	1	154207187	154207187	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:154207187C>T	uc001fep.4	+	4	567	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	UBAP2L_uc009wot.3_Missense_Mutation_p.R134C|UBAP2L_uc010pek.2_Missense_Mutation_p.R133C|UBAP2L_uc010pel.2_Missense_Mutation_p.R133C|UBAP2L_uc021pad.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.2_Missense_Mutation_p.R37C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	134					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGTCGGCGACGTGGTGGGCC	0.552												
CACNA1S	779	broad.mit.edu	37	1	201058474	201058474	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:201058474C>T	uc001gvv.3	-	5	1039	c.812G>A	c.(811-813)gGc>gAc	p.G271D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	271					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGGTGATGCCATGGTTGGG	0.627												
SPATA17	128153	broad.mit.edu	37	1	217824518	217824518	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:217824518C>A	uc001hlh.1	+	2	264	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	80	IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACTAACTGTGCAGGTAAATAT	0.289												
DISC1	27185	broad.mit.edu	37	1	232144583	232144583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:232144583C>T	uc010pxh.2	+	11	2244	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pxe.2_Nonsense_Mutation_p.R699*|DISC1_uc010pxf.2_Silent_p.V678V|DISC1_uc010pxg.2_3'UTR|DISC1_uc010pxd.2_Nonsense_Mutation_p.R344*|DISC1_uc009xfr.3_Nonsense_Mutation_p.R654*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Nonsense_Mutation_p.R577*|DISC1_uc001huz.3_Nonsense_Mutation_p.R699*|DISC1_uc001hva.3_Nonsense_Mutation_p.R699*	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	699	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAAGCTTGTCGATTGCTTAT	0.493												
PTEN	5728	broad.mit.edu	37	10	89692905	89692905	+	Frame_Shift_Del	DEL	G	G	-	rs121913292		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr10:89692905delG	uc001kfb.3	+	4	1421	c.389delG	c.(388-390)cgafs	p.R130fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		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.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(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)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	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)		
MUC5B	727897	broad.mit.edu	37	11	1263896	1263896	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:1263896C>T	uc001lta.3	+	30	5845	c.5786C>T	c.(5785-5787)aCc>aTc	p.T1929I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1929	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCTCCACCCTGAGAACA	0.637												
OR52N1	79473	broad.mit.edu	37	11	5809803	5809803	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:5809803T>C	uc010qzo.2	-	0	244	c.244A>G	c.(244-246)Aac>Gac	p.N82D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAGAGTGTTGGGAAGGGTG	0.473												
NPAS4	266743	broad.mit.edu	37	11	66189954	66189954	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:66189954C>T	uc001ohx.1	+	2	536	c.360C>T	c.(358-360)taC>taT	p.Y120Y	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	120	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.I119F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCATCTACGACATCATTG	0.557												
PRCP	5547	broad.mit.edu	37	11	82549612	82549612	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:82549612C>T	uc001ozs.3	-	7	1204	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PRCP_uc001ozr.3_Missense_Mutation_p.C385Y	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	364					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACTTCTGTGCAGGCCTAAGA	0.378												
KITLG	4254	broad.mit.edu	37	12	88939597	88939597	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:88939597G>C	uc001tav.3	-	1	256	c.61C>G	c.(61-63)Cct>Gct	p.P21A	KITLG_uc001taw.3_Missense_Mutation_p.P21A	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	21					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTGACGAGAGGATTAAATAGG	0.363									Testicular Cancer, Familial Clustering of			
TXNRD1	7296	broad.mit.edu	37	12	104721416	104721416	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:104721416G>A	uc021rcx.1	+	12	1531	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	TXNRD1_uc021rcy.1_Silent_p.L405L|TXNRD1_uc021rcz.1_Silent_p.L353L|TXNRD1_uc021rda.1_Silent_p.L353L|TXNRD1_uc021rdb.1_Silent_p.L353L|TXNRD1_uc010swp.2_Silent_p.L315L|TXNRD1_uc010swq.2_Silent_p.L403L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.L419L	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	503					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GAAGATTGCTGGCTCAGAGGC	0.473												
SCFD1	23256	broad.mit.edu	37	14	31142541	31142541	+	Silent	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:31142541T>C	uc001wqm.1	+	11	1098	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	358					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCAAACGACTTAAAAGCATTA	0.338												
ESR2	2100	broad.mit.edu	37	14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	rs141516067		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:64749369G>A	uc001xha.1	-	1	803	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448												
PAPLN	89932	broad.mit.edu	37	14	73729314	73729314	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:73729314C>T	uc010ttx.2	+	17	2665	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PAPLN_uc001xnw.4_Silent_p.G807G|PAPLN_uc010arl.3_Intron|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.G818G|PAPLN_uc010arm.3_Missense_Mutation_p.A26V|PAPLN_uc010arn.3_Silent_p.G34G	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	834						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCCTGCAGGCGAGCAGGAAC	0.682												
GPR68	8111	broad.mit.edu	37	14	91700886	91700886	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:91700886C>T	uc021ryk.1	-	0	509	c.509G>A	c.(508-510)cGc>cAc	p.R170H	GPR68_uc001xzg.3_Missense_Mutation_p.R170H|GPR68_uc001xzh.3_Missense_Mutation_p.R170H	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	170					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.E170K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAAGCACACGCGGTGCTGGTT	0.627												
BDKRB1	623	broad.mit.edu	37	14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:96730468G>A	uc021sbj.1	+	0	449	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	150					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632												
MKRN3	7681	broad.mit.edu	37	15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr15:23811282C>T	uc001ywh.4	+	0	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S118L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	118						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.S118S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597												
ANKS3	124401	broad.mit.edu	37	16	4764084	4764084	+	Missense_Mutation	SNP	G	G	A	rs146798732		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:4764084G>A	uc002cxj.2	-	6	972	c.677C>T	c.(676-678)cCc>cTc	p.P226L	ANKS3_uc002cxi.2_Missense_Mutation_p.P153L|ANKS3_uc021tcj.1_Missense_Mutation_p.P97L|ANKS3_uc021tck.1_Missense_Mutation_p.P119L|ANKS3_uc002cxk.3_Missense_Mutation_p.P97L|ANKS3_uc010uxs.2_Missense_Mutation_p.P153L|ANKS3_uc002cxm.3_Missense_Mutation_p.P20L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	226								p.P226P(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCAGAGAGGGCGAGTAAGT	0.617												
HAS3	3038	broad.mit.edu	37	16	69148326	69148326	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:69148326C>T	uc010cfh.3	+	3	1043	c.819C>T	c.(817-819)tgC>tgT	p.C273C	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.C273C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	273					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCGGGCCTGCCAGTCCTACT	0.552												
KRTAP4-4	84616	broad.mit.edu	37	17	39316492	39316492	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:39316492C>G	uc002hwc.3	-	0	492	c.452G>C	c.(451-453)tGt>tCt	p.C151S		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	151	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTGGACACACAGCAGCTGGG	0.642												
BRCA1	672	broad.mit.edu	37	17	41244612	41244612	+	Missense_Mutation	SNP	C	C	T	rs80356985		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:41244612C>T	uc002icq.3	-	9	3168	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R908H|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R932H|BRCA1_uc002ict.3_Missense_Mutation_p.R979H|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R979H|BRCA1_uc002ide.1_Missense_Mutation_p.R810H|BRCA1_uc010cyy.1_Missense_Mutation_p.R979H|BRCA1_uc010whs.1_Missense_Mutation_p.R979H|BRCA1_uc010cyz.2_Missense_Mutation_p.R932H|BRCA1_uc010cza.2_Missense_Mutation_p.R953H|BRCA1_uc010wht.1_Missense_Mutation_p.R683H	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	979					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGTATACGATATGGGTT	0.363			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)		
ITGA2B	3674	broad.mit.edu	37	17	42457990	42457990	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:42457990C>T	uc002igt.1	-	13	1449	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	473					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A473T(2)|p.G472R(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCTGGTTGGCCCCGTAAGCT	0.592												
LRRC30	339291	broad.mit.edu	37	18	7231386	7231386	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr18:7231386C>T	uc010wzk.2	+	0	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAACCAGCTCCGGGTTCTCCC	0.587												
KHSRP	8570	broad.mit.edu	37	19	6420483	6420483	+	Splice_Site	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:6420483C>T	uc002mer.4	-	5	536	c.426_splice	c.e5-1	p.R142_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	142	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CATTGAAGTCCTGTAAAGAGA	0.567												
ZNF136	7695	broad.mit.edu	37	19	12298584	12298584	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:12298584G>A	uc002mti.3	+	3	1538	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ZNF136_uc010xmh.2_Missense_Mutation_p.R398Q	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	464					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.R464R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACTCCTTTCGAACACATGAA	0.393												
RASAL3	64926	broad.mit.edu	37	19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672												
USHBP1	83878	broad.mit.edu	37	19	17375061	17375061	+	Silent	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:17375061A>C	uc002nfs.1	-	1	161	c.48T>G	c.(46-48)gcT>gcG	p.A16A	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	16							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTACGGGTGGAGCATGCCTCC	0.647												
MAG	4099	broad.mit.edu	37	19	35786738	35786738	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:35786738G>A	uc002nyy.2	+	3	467	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MAG_uc002nyx.2_Missense_Mutation_p.R90H|MAG_uc010eds.2_Missense_Mutation_p.R65H|MAG_uc002nyz.2_Missense_Mutation_p.R90H	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	90	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	p.R90H(3)		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)			GGCCGCAGCCGCCTCCTGGGG	0.652												
PLD3	23646	broad.mit.edu	37	19	40872766	40872766	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:40872766C>T	uc002onm.4	+	4	587	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PLD3_uc021uus.1_Silent_p.G63G|PLD3_uc002onj.4_Silent_p.G63G|PLD3_uc002onn.3_Silent_p.G63G|PLD3_uc002ono.3_Nonsense_Mutation_p.R93*	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	63					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGAATACGGCGACTTGCATC	0.627												
PSG3	5669	broad.mit.edu	37	19	43372476	43372476	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:43372476T>A	uc002ovd.1	-	4	1158	c.1020A>T	c.(1018-1020)tcA>tcT	p.S340S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S247S|PSG3_uc002ova.2_Silent_p.S247S|PSG3_uc002ouz.2_Silent_p.S340S|PSG3_uc002ovb.3_Silent_p.S340S	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	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)				AATAGGTGAATGAAGGGTAAA	0.468												
NLRP5	126206	broad.mit.edu	37	19	56538863	56538863	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:56538863G>A	uc002qmj.3	+	6	1264	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	NLRP5_uc002qmi.3_Missense_Mutation_p.V403M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	422	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGAGGTCGTGTCTCCCCG	0.547												
ZNF470	388566	broad.mit.edu	37	19	57088760	57088760	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:57088760C>T	uc002qnl.4	+	5	1639	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448												
LPIN1	23175	broad.mit.edu	37	2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:11911528C>T	uc010yjm.2	+	4	519	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	LPIN1_uc010yjn.2_Missense_Mutation_p.P107S|LPIN1_uc002rbt.3_Missense_Mutation_p.P107S|LPIN1_uc002rbs.3_Missense_Mutation_p.P107S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	107					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517												
MFSD2B	388931	broad.mit.edu	37	2	24246495	24246495	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:24246495C>T	uc002reo.2	+	11	1226	c.1212C>T	c.(1210-1212)caC>caT	p.H404H		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	404					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCTGCAGCACCGTCACGGGC	0.622												
SCN1A	6323	broad.mit.edu	37	2	166897863	166897863	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:166897863C>T	uc002udo.4	-	14	2520	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	SCN1A_uc010fpk.3_Missense_Mutation_p.V737M|SCN1A_uc021vsb.1_Missense_Mutation_p.V754M	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	765						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I765I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGTCCATCACAACCAGGTTG	0.403												
PIKFYVE	200576	broad.mit.edu	37	2	209150648	209150648	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:209150648C>T	uc002vcz.3	+	5	970	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcw.3_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.3_Missense_Mutation_p.A174V|PIKFYVE_uc002vcx.3_Missense_Mutation_p.A185V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	271					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGATTTGGCCTGGCAAAGG	0.403												
TNS1	7145	broad.mit.edu	37	2	218713141	218713141	+	Missense_Mutation	SNP	G	G	A	rs147452506		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:218713141G>A	uc002vgt.2	-	16	2122	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	575						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATGGGGGCCGTGTGGCCAGC	0.667												
COL6A3	1293	broad.mit.edu	37	2	238303590	238303590	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:238303590G>C	uc002vwl.2	-	2	634	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	117	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCCAGTCTGATTGGTTCCC	0.453												
HDAC4	9759	broad.mit.edu	37	2	240061423	240061423	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:240061423G>A	uc002vyk.4	-	8	1727	c.935C>T	c.(934-936)gCg>gTg	p.A312V	HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.3_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCGTTCTCCGCGCTGACGCT	0.662												
GGTLC1	92086	broad.mit.edu	37	20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:23966561C>T	uc002wts.3	-	3	488	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_uc002wtu.3_Missense_Mutation_p.G119S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	119							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662												
CDH22	64405	broad.mit.edu	37	20	44841697	44841697	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:44841697G>A	uc002xrm.2	-	4	1368	c.969C>T	c.(967-969)ggC>ggT	p.G323G	CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.2_Silent_p.G74G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACACATCGCCGCCGCTGCTGC	0.592												
RIMBP3B	150221	broad.mit.edu	37	22	21742742	21742742	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr22:21742742C>G	uc002zuq.4	+	0	5080	c.4595C>G	c.(4594-4596)cCg>cGg	p.P1532R	RN7SK_uc021wmf.1_5'Flank	NM_001128635	NP_001122107			Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.																		TGGCGTTCTCCGGCCCAAGGG	0.627												
FGD5	152273	broad.mit.edu	37	3	14862435	14862435	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:14862435C>T	uc003bzc.3	+	0	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_uc011avk.2_Silent_p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	619					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						CACCTCCTTTCGACCTGGCCT	0.557												
SLC6A20	54716	broad.mit.edu	37	3	45812818	45812818	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:45812818C>T	uc011bai.2	-	5	950	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A239T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	276					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A239T(1)|p.A276T(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACGATGATGGCGTGCTTCTGG	0.517												
PHLDB2	90102	broad.mit.edu	37	3	111603533	111603533	+	Silent	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:111603533A>C	uc010hqa.3	+	1	1020	c.609A>C	c.(607-609)tcA>tcC	p.S203S	PHLDB2_uc003dyc.3_Silent_p.S230S|PHLDB2_uc003dyd.3_Silent_p.S203S|PHLDB2_uc003dyg.3_Silent_p.S203S|PHLDB2_uc003dyh.3_Silent_p.S203S|PHLDB2_uc003dye.4_Silent_p.S203S|PHLDB2_uc003dyf.4_Silent_p.S203S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	203						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATGCCTTCAAGCCCAAAGC	0.532												
PDGFRA	81608	broad.mit.edu	37	4	54294195	54294195	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:54294195T>C	uc003gzy.3	+	13	1204	c.1018_splice	c.e13-1	p.V340_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Splice_Site_p.V325_splice|PDGFRA_uc011bzt.1_Splice_Site_p.V304_splice|PDGFRA_uc011bzu.2_Splice_Site_p.V325_splice|PDGFRA_uc003gzz.3_Splice_Site_p.V266_splice|PDGFRA_uc003hab.3_Splice_Site_p.V305_splice|PDGFRA_uc010ign.3_Splice_Site|FIP1L1_uc003hae.3_Splice_Site	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAATTTTAGGTCCTTTCTGAA	0.353			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
SOWAHB	345079	broad.mit.edu	37	4	77818025	77818025	+	Silent	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:77818025G>A	uc003hki.3	-	0	978	c.978C>T	c.(976-978)cgC>cgT	p.R326R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	326																	CCGACCAGGCGCGGATAGGGC	0.657												
TLR2	7097	broad.mit.edu	37	4	154625003	154625003	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:154625003G>A	uc003inq.3	+	2	1163	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	TLR2_uc003inr.3_Missense_Mutation_p.R315Q|TLR2_uc003ins.3_Missense_Mutation_p.R315Q|TLR2_uc021xtl.1_Missense_Mutation_p.R315Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	315					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.I314V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTAACAATCCGGAGGCTGCAT	0.338												
PLEKHG4B	153478	broad.mit.edu	37	5	163559	163559	+	Silent	SNP	G	G	A	rs114260538	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652												
PLEKHG4B	153478	broad.mit.edu	37	5	163619	163619	+	Silent	SNP	G	G	A	rs114939243	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163619G>A	uc003jak.2	+	10	2414	c.2364G>A	c.(2362-2364)tcG>tcA	p.S788S		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	788					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTCCCCCTCGGGGCTCCACC	0.647												
PIK3R1	5295	broad.mit.edu	37	5	67575431	67575432	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:67575431_67575432insA	uc003jva.3	+	4	1084_1085	c.504_505insA	c.(502-507)gatacafs	p.D168fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	168	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTTTCCTAGATACACCCTCCGT	0.381			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PCDHAC2	56143	broad.mit.edu	37	5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:140202723G>A	uc003lhl.2	+	0	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A455T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A455T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677												
GPR111	222611	broad.mit.edu	37	6	47647995	47647995	+	Missense_Mutation	SNP	C	C	A	rs141145040	by1000genomes	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:47647995C>A	uc010jzj.1	+	4	661	c.660C>A	c.(658-660)aaC>aaA	p.N220K	GPR111_uc003oyy.3_Missense_Mutation_p.N152K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	220					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTACACAACATATCAACAG	0.438												
PACRG	135138	broad.mit.edu	37	6	163510341	163510341	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:163510341C>T	uc003qua.3	+	4	738	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PACRG_uc003qub.3_Missense_Mutation_p.L172F|PACRG_uc003quc.3_Missense_Mutation_p.L172F	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	172										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCTCAAGGTCCTCCAGCATCT	0.448												
INTS1	26173	broad.mit.edu	37	7	1522258	1522258	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:1522258C>T	uc003skn.2	-	26	3728	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1209					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642												
NME8	51314	broad.mit.edu	37	7	37890338	37890338	+	Splice_Site	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37890338G>A	uc003tfn.3	+	5	570	c.198_splice	c.e5+1	p.V66_splice		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	66	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										TTTTGCTGTCGTAAGAATTTT	0.318												
NME8	51314	broad.mit.edu	37	7	37924770	37924770	+	Nonsense_Mutation	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:37924770T>A	uc003tfn.3	+	13	1535	c.1163T>A	c.(1162-1164)tTa>tAa	p.L388*		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	388	NDK 2.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GCCCTTGTTTTATTGAGAGAC	0.368												
PKD1L1	168507	broad.mit.edu	37	7	47854942	47854942	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:47854942G>A	uc003tny.2	-	46	7113	c.7079C>T	c.(7078-7080)cCg>cTg	p.P2360L	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P87L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2360					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGCCCCCGGCACACGGGC	0.567												
EGFR	1956	broad.mit.edu	37	7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TAC1	6863	broad.mit.edu	37	7	97364145	97364145	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:97364145C>T	uc003uop.4	+	4	519	c.273C>T	c.(271-273)ggC>ggT	p.G91G	TAC1_uc003uoq.4_Silent_p.G91G|TAC1_uc003uor.4_Silent_p.G76G|TAC1_uc003uos.4_Silent_p.G76G	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	91					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TAGGACATGGCCAGATCTCTC	0.214												
FAM71F1	84691	broad.mit.edu	37	7	128369997	128369997	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:128369997G>A	uc003vno.1	+	5	948	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	299								p.D299G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGCACCTGTGACCTACGTTG	0.532												
LMBR1	64327	broad.mit.edu	37	7	156556439	156556439	+	Silent	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:156556439C>T	uc010lqn.3	-	5	689	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LMBR1_uc003wmv.4_Silent_p.A6A|LMBR1_uc003wmw.4_Silent_p.A158A|LMBR1_uc003wmx.4_Silent_p.A6A|LMBR1_uc011kvx.2_Silent_p.A137A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	158						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAATGAGTAACGCAAGAAGAA	0.378												
UBXN8	7993	broad.mit.edu	37	8	30609013	30609013	+	Missense_Mutation	SNP	A	A	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:30609013A>C	uc003xii.3	+	1	206	c.189A>C	c.(187-189)aaA>aaC	p.K63N	UBXN8_uc010lvi.3_Intron|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	63					single fertilization					central_nervous_system(1)|lung(2)	3						ACTCATTTAAATCTCCCCAAG	0.338												
TG	7038	broad.mit.edu	37	8	134107432	134107432	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:134107432C>T	uc003ytw.3	+	41	7425	c.7384C>T	c.(7384-7386)Ctc>Ttc	p.L2462F	TG_uc010mdw.3_Missense_Mutation_p.L1221F|TG_uc011ljb.2_Missense_Mutation_p.L831F|TG_uc011ljc.2_Missense_Mutation_p.L595F|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2462					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2461V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCAATGTCCTCAATGATGC	0.512												
INSL6	11172	broad.mit.edu	37	9	5185468	5185468	+	Silent	SNP	G	G	A	rs141353328	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:5185468G>A	uc003zix.3	-	0	151	c.135C>T	c.(133-135)tgC>tgT	p.C45C		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	45						extracellular region	hormone activity	p.C45C(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGGCATGGCCGCAGAGTTTTT	0.542												
CTSL2	1515	broad.mit.edu	37	9	99800218	99800218	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:99800218G>C	uc010msi.3	-	1	315	c.108C>G	c.(106-108)caC>caG	p.H36Q	CTSL2_uc004awt.3_Missense_Mutation_p.H36Q|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	36						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				ATAATCTTCTGTGTGTTGCCT	0.483												
FAM102A	399665	broad.mit.edu	37	9	130710496	130710496	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:130710496G>A	uc004bsx.2	-	5	866	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	157	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTTGGCAGTCGATGGTGGCCT	0.602												
PHKA1	5255	broad.mit.edu	37	X	71895990	71895990	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:71895990A>G	uc004eax.4	-	5	849	c.548T>C	c.(547-549)aTa>aCa	p.I183T	PHKA1_uc004eay.4_Missense_Mutation_p.I183T|PHKA1_uc011mqi.2_Missense_Mutation_p.I183T	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	183					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTTCCCATATCCCGAAGTC	0.388												
PHF6	84295	broad.mit.edu	37	X	133551307	133551307	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:133551307G>C	uc004exj.3	+	8	1145	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	PHF6_uc004exk.3_Missense_Mutation_p.E315Q|PHF6_uc011mvk.2_Missense_Mutation_p.E281Q|PHF6_uc004exi.3_Missense_Mutation_p.E316Q	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAATACATTGAAAATATGTC	0.353			"""F, N, Splice, Mis"""		ETP ALL							
SLITRK4	139065	broad.mit.edu	37	X	142717983	142717983	+	Silent	SNP	T	T	A			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:142717983T>A	uc022cfm.1	-	0	942	c.942A>T	c.(940-942)ggA>ggT	p.G314G	SLITRK4_uc022cfl.1_Silent_p.G314G|SLITRK4_uc004fbx.3_Silent_p.G314G|SLITRK4_uc004fby.3_Silent_p.G314G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	314						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAACGATTCCAGAGATCT	0.463												
