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
KIAA1751	85452	broad.mit.edu	37	1	1888142	1888142	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:1888142C>T	uc001aim.1	-	16	2089	c.1933G>A	c.(1933-1935)Gtt>Att	p.V645I	KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	645										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAGCCCCCAACGTTGGTCAGC	0.572												
KIF1B	23095	broad.mit.edu	37	1	10425498	10425498	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:10425498G>A	uc001aqx.4	+	42	4746	c.4544G>A	c.(4543-4545)cGt>cAt	p.R1515H	KIF1B_uc001aqw.4_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.3_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.3_Missense_Mutation_p.R1515H|KIF1B_uc001ara.3_Missense_Mutation_p.R1475H|KIF1B_uc001arb.3_Missense_Mutation_p.R1501H	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1515					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTGCTGCGTGAGAGACTT	0.507												
RPL11	6135	broad.mit.edu	37	1	24019182	24019185	+	Frame_Shift_Del	DEL	AGAC	AGAC	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:24019182_24019185delAGAC	uc001bhk.3	+	1	135_138	c.90_93delAGAC	c.(88-93)ggagacfs	p.G30fs	RPL11_uc001bhl.3_Frame_Shift_Del_p.G29fs	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	30					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGGAGAGTGGAGACAGACTGACGC	0.544												
CNKSR1	10256	broad.mit.edu	37	1	26507077	26507077	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657												
A3GALT2	127550	broad.mit.edu	37	1	33772943	33772943	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:33772943G>A								ZNF362 (6623 upstream) : PHC2 (16281 downstream)																							CCAGCGCCACGCGGGGCACCG	0.716												
TACSTD2	4070	broad.mit.edu	37	1	59042498	59042498	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:59042498C>T	uc001cyz.4	-	0	669	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	111	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					AAGCGGCCCTCGGGGTCGCAG	0.706												
CCDC18	343099	broad.mit.edu	37	1	93698049	93698049	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:93698049G>A	uc021opx.1	+	17	2520	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	CCDC18_uc009wdl.1_Missense_Mutation_p.V422I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	786										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGCAAAACGTTATTCTACA	0.318												
NOTCH2	4853	broad.mit.edu	37	1	120510196	120510196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:120510196C>T	uc001eik.3	-	7	1610	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	NOTCH2_uc001eil.3_Missense_Mutation_p.G438D|NOTCH2_uc021osy.1_Missense_Mutation_p.G399D|NOTCH2_uc001eim.4_Missense_Mutation_p.G355D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	438	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGAAGGCGCCATCCGTGTT	0.478			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome			
PTCHD3	374308	broad.mit.edu	37	10	27688091	27688091	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:27688091A>T	uc001itu.2	-	3	1554	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	479	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACATTGGACATCCGCTCTCG	0.403												
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537												
TRIM3	10612	broad.mit.edu	37	11	6470405	6470405	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:6470405G>C	uc001mdh.3	-	12	2484	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	TRIM3_uc001mdi.3_Missense_Mutation_p.F696L|TRIM3_uc010raj.2_Missense_Mutation_p.F577L|TRIM3_uc009yfd.3_Missense_Mutation_p.F696L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	696					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.F696L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562												
SYT9	143425	broad.mit.edu	37	11	7324279	7324279	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:7324279T>C	uc001mfe.3	+	1	392	c.155T>C	c.(154-156)gTg>gCg	p.V52A	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	52						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATATCTCAGTGAGCCTGCTG	0.537												
ANO1	55107	broad.mit.edu	37	11	69924755	69924755	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:69924755C>T	uc001opj.3	+	0	348	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	15					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGCCGAGGACCGCAGCGTCCA	0.731												
NOX4	50507	broad.mit.edu	37	11	89155085	89155085	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:89155085G>A	uc001pct.3	-	7	853	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NOX4_uc009yvr.3_Missense_Mutation_p.T180M|NOX4_uc001pcu.3_Missense_Mutation_p.T131M|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.T205M|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.T39M|NOX4_uc009yvp.3_Missense_Mutation_p.T205M|NOX4_uc010rtv.2_Missense_Mutation_p.T181M|NOX4_uc009yvq.3_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	205	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.T205T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACATGCAACGTCAGCAGCAT	0.333												
CASP1	114769	broad.mit.edu	37	11	104915384	104915384	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:104915384G>T	uc001pip.1	-	2	35	c.8_splice	c.e2-1	p.D3_splice	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Splice_Site_p.D3_splice	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	3	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCAGGACCTTGTCTGTTTGGA	0.408												
OLR1	4973	broad.mit.edu	37	12	10319338	10319338	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:10319338T>A	uc001qxo.1	-	2	511	c.397A>T	c.(397-399)Aca>Tca	p.T133S	OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc021qvb.1_Missense_Mutation_p.T133S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	133	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCTTCAGTGTTTCTTGGAGA	0.403												
CSRNP2	81566	broad.mit.edu	37	12	51457947	51457947	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:51457947G>A	uc021qxx.1	-	4	1726	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	CSRNP2_uc001rxu.2_Missense_Mutation_p.T405M	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	405					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTTCACCGTTGAGGCAGT	0.567												
MYO1A	4640	broad.mit.edu	37	12	57430106	57430106	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:57430106G>T	uc001smw.4	-	21	2574	c.2334C>A	c.(2332-2334)ttC>ttA	p.F778L	MYO1A_uc010sqz.2_Missense_Mutation_p.F616L|MYO1A_uc009zpd.3_Missense_Mutation_p.F778L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	778					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTGTAGATGAAATCTGCCA	0.502												
IL22	50616	broad.mit.edu	37	12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68646552C>T	uc001sty.1	-	1	297	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_uc010stb.1_Missense_Mutation_p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	82					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498												
MDM1	56890	broad.mit.edu	37	12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68719231G>A	uc001stz.2	-	3	759	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Intron|MDM1_uc001sua.4_3'UTR|MDM1_uc010std.2_3'UTR	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338												
KCNC2	3747	broad.mit.edu	37	12	75444575	75444575	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:75444575C>T	uc001sxg.1	-	2	1754	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	KCNC2_uc009zry.3_Missense_Mutation_p.E404K|KCNC2_uc001sxe.3_Missense_Mutation_p.E404K|KCNC2_uc001sxf.3_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	404					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCACTCTCTCGGCATAGTAG	0.448												
RIMBP2	23504	broad.mit.edu	37	12	130927141	130927141	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:130927141G>A	uc001uil.2	-	7	921	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_uc001uim.3_Silent_p.N143N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	235						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582												
EP400	57634	broad.mit.edu	37	12	132490816	132490816	+	Missense_Mutation	SNP	T	T	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:132490816T>G	uc001ujn.3	+	13	3247	c.3095T>G	c.(3094-3096)cTg>cGg	p.L1032R	EP400_uc021rgq.1_Missense_Mutation_p.L1031R|EP400_uc001ujm.3_Missense_Mutation_p.L1032R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1068	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P1032P(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGCCATCCTGCCGAAGGGC	0.542												
TSSK4	283629	broad.mit.edu	37	14	24675764	24675764	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:24675764T>C	uc001wnh.3	+	1	479	c.275T>C	c.(274-276)aTt>aCt	p.I92T	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.I16T|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.I92T	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	92	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TATCGGGCCATTGAGAGCACA	0.532												
LTBP2	4053	broad.mit.edu	37	14	74969471	74969471	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:74969471G>A	uc001xqa.3	-	33	5442	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1685					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGGGACGGTGTCCTCGG	0.637												
PROX2	283571	broad.mit.edu	37	14	75329549	75329549	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:75329549G>C	uc021rwo.1	-	0	989	c.989C>G	c.(988-990)gCa>gGa	p.A330G	PROX2_uc001xqp.2_Missense_Mutation_p.A330G|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	330					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGAAAGTTTGCTGGGGGATC	0.502												
MESDC2	23184	broad.mit.edu	37	15	81282094	81282094	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr15:81282094C>A	uc002bfy.1	-	0	112	c.39G>T	c.(37-39)ctG>ctT	p.L13L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	13	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGGCACAAAGCAGGACCACGG	0.721												
CPPED1	55313	broad.mit.edu	37	16	12875067	12875067	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:12875067G>A	uc002dca.4	-	1	375	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_uc002dcb.4_Silent_p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532												
CIRH1A	84916	broad.mit.edu	37	16	69201051	69201051	+	Missense_Mutation	SNP	G	G	A	rs34057086	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:69201051G>A	uc002ews.4	+	15	2003	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.3_Missense_Mutation_p.R438H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	636						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCCGGAGGCGCACAGCTCAT	0.348												
MYH2	4620	broad.mit.edu	37	17	10430055	10430055	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:10430055G>A	uc010coi.3	-	29	4176	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1350W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1350					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACTGTTCCCGCAGCAGGTCA	0.547												
JMJD6	23210	broad.mit.edu	37	17	74721588	74721588	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:74721588A>G	uc002jso.3	-	1	803	c.479T>C	c.(478-480)cTt>cCt	p.L160P	JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	160	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ATACTGGAAAAGGTCATCAGT	0.393												
PTPRM	5797	broad.mit.edu	37	18	7888281	7888281	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:7888281T>A	uc002knn.4	+	2	877	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PTPRM_uc010dkv.3_Missense_Mutation_p.L125Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	125	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACGGGCCACTGGGGAATCCT	0.453												
CTAGE1	64693	broad.mit.edu	37	18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587												
DCC	1630	broad.mit.edu	37	18	50734176	50734176	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:50734176C>G	uc002lfe.2	+	10	2466	c.1850C>G	c.(1849-1851)aCa>aGa	p.T617R	DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.2_Missense_Mutation_p.T272R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	617					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGGTTACACTTTCTGAC	0.338												
MUC16	94025	broad.mit.edu	37	19	9067947	9067947	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:9067947G>C	uc002mkp.3	-	2	19703	c.19499C>G	c.(19498-19500)aCa>aGa	p.T6500R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6502	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTGGGCTTGTCCCTGATAT	0.468												
GAPDHS	26330	broad.mit.edu	37	19	36029512	36029512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:36029512C>T	uc002oaf.1	+	3	492	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	126					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CACCCACGGCCGATACAAGGG	0.522												
NLRP5	126206	broad.mit.edu	37	19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						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)		GCGGAAAATTCGGGTGGATGT	0.498												
LOXL3	84695	broad.mit.edu	37	2	74779634	74779634	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:74779634C>T	uc002smp.1	-	1	200	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.3_Intron|DOK1_uc002sms.3_5'Flank|DOK1_uc010ffo.3_5'Flank|DOK1_uc002smt.3_5'Flank|DOK1_uc002smu.3_5'Flank|DOK1_uc010yrz.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	43						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGCCGGAACCGAAGCCCCTG	0.662												
LONRF2	164832	broad.mit.edu	37	2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:100916305C>A	uc002tal.4	-	4	1781	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	381					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413												
SLC20A1	6574	broad.mit.edu	37	2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	rs142437239		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:113417335G>A	uc002tib.3	+	7	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458												
LRP1B	53353	broad.mit.edu	37	2	141072536	141072536	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072536T>C	uc002tvj.1	-	82	13745	c.12773A>G	c.(12772-12774)cAg>cGg	p.Q4258R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4258	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTCCATTCTGGCAGTAGTT	0.373										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141072633	141072633	+	Missense_Mutation	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072633T>C	uc002tvj.1	-	82	13648	c.12676A>G	c.(12676-12678)Aga>Gga	p.R4226G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4226	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAATGCATCTTCCTCCATTT	0.343										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141092130	141092130	+	Splice_Site	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141092130T>C	uc002tvj.1	-	79	13089	c.12117_splice	c.e79-1	p.G4039_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4039					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACATCATCCTGAAGAGAGCG	0.483										TSP Lung(27;0.18)		
TMC2	117532	broad.mit.edu	37	20	2539347	2539347	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:2539347C>T	uc002wgf.1	+	2	343	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	110	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCAGGAGCGGACAGCAGC	0.622												
C20orf111	51526	broad.mit.edu	37	20	42826177	42826177	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:42826177C>T	uc002xlk.3	-	3	646	c.394G>A	c.(394-396)Gga>Aga	p.G132R		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	132										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGCTTTCTCCTGCACTGAAC	0.498												
PCK1	5105	broad.mit.edu	37	20	56138743	56138743	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:56138743C>T	uc002xyn.4	+	5	1084	c.921C>T	c.(919-921)tgC>tgT	p.C307C	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	307					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGTTGAGTGCGTCGGGGATG	0.567												
C2CD2	25966	broad.mit.edu	37	21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43327136C>T	uc002yzw.3	-	9	1525	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_uc002yzt.3_Missense_Mutation_p.R44H|C2CD2_uc002yzu.3_Missense_Mutation_p.R260H|C2CD2_uc002yzv.3_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	428						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592												
ABCG1	9619	broad.mit.edu	37	21	43711761	43711761	+	Silent	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43711761C>T	uc011aev.2	+	12	1791	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	ABCG1_uc002zam.3_Silent_p.L528L|ABCG1_uc002zan.3_Silent_p.L552L|ABCG1_uc002zao.3_Silent_p.L547L|ABCG1_uc002zap.3_Silent_p.L550L|ABCG1_uc002zaq.3_Silent_p.L562L|ABCG1_uc002zar.3_Silent_p.L561L|ABCG1_uc010gpb.2_Missense_Mutation_p.P202L	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	562	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTCCACGTCCCTGCAGGTGCC	0.677												
ITGB2	3689	broad.mit.edu	37	21	46320283	46320283	+	Silent	SNP	G	G	A	rs35013643	by1000genomes	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320283G>A	uc002zgd.2	-	5	893	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	283	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.N282fs*41(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACAGCGGCCGTCGTTGGGGG	0.642												
ITGB2	3689	broad.mit.edu	37	21	46320342	46320342	+	Missense_Mutation	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320342C>A	uc002zgd.2	-	5	834	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	264	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCCGTCATCAGTGGCAAAC	0.627												
INPP5J	27124	broad.mit.edu	37	22	31523945	31523945	+	Missense_Mutation	SNP	T	T	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:31523945T>A	uc003aju.4	+	6	1888	c.1796T>A	c.(1795-1797)tTc>tAc	p.F599Y	INPP5J_uc003ajw.3_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.4_Missense_Mutation_p.F231Y|INPP5J_uc003ajv.4_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.4_Missense_Mutation_p.F232Y|INPP5J_uc011alk.2_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.3_Missense_Mutation_p.F164Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	599	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCCTCGTGTTCTGGTTCGGG	0.577												
DEPDC5	9681	broad.mit.edu	37	22	32239728	32239728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:32239728G>T	uc011alu.2	+	28	2933	c.2731G>T	c.(2731-2733)Gaa>Taa	p.E911*	DEPDC5_uc011als.2_Nonsense_Mutation_p.E833*|DEPDC5_uc003als.3_Nonsense_Mutation_p.E902*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.E902*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.E351*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	902					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTCCCACGAACGGCTGGA	0.498												
CHL1	10752	broad.mit.edu	37	3	439999	439999	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:439999C>T	uc003bot.3	+	24	3826	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	CHL1_uc003bou.3_Missense_Mutation_p.R1046C|CHL1_uc003bow.2_Missense_Mutation_p.R1046C|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1046					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACATATAGTTCGCCTAATGAC	0.388												
NEK10	152110	broad.mit.edu	37	3	27233555	27233555	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:27233555C>T	uc010hfk.3	-	4	635	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	NEK10_uc003cds.1_Missense_Mutation_p.V221I|NEK10_uc010hfj.3_Missense_Mutation_p.V136I			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	824							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATGTGACGGTGTTCCGG	0.438												
SCN11A	11280	broad.mit.edu	37	3	38951639	38951639	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:38951639G>A	uc021wvy.1	-	7	1218	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCAAAATTCGTATAATTATA	0.363												
COL6A5	256076	broad.mit.edu	37	3	130187963	130187963	+	Missense_Mutation	SNP	A	A	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:130187963A>T	uc010htj.1	+	37	7609	c.7115A>T	c.(7114-7116)cAt>cTt	p.H2372L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.H411L|COL6A5_uc010htk.1_Missense_Mutation_p.H411L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2372	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAAATGAAACATCATCTCCAA	0.428												
PLSCR1	5359	broad.mit.edu	37	3	146239654	146239654	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:146239654C>T	uc003evx.4	-	5	930	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	PLSCR1_uc011bnn.2_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.4_Intron	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	181	Cys-rich.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCTGCTACATCTTAGTGG	0.438												
SI	6476	broad.mit.edu	37	3	164700076	164700076	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:164700076G>A	uc003fei.3	-	46	5433	c.5370C>T	c.(5368-5370)aaC>aaT	p.N1790N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1790	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.N1790N(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTTATTTCCGTTATACGTTA	0.348										HNSCC(35;0.089)		
PIK3CA	5290	broad.mit.edu	37	3	178916851	178916853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:178916851_178916853delGAA	uc003fjk.3	+	1	395_397	c.238_240delGAA	c.(238-240)gaadel	p.E81del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(10)|p.E80K(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCAGAAAGGGAAGAATTTTTTG	0.365		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
TMEM207	131920	broad.mit.edu	37	3	190147491	190147491	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:190147491C>G	uc003fsj.2	-	4	401	c.334G>C	c.(334-336)Gga>Cga	p.G112R		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGAATTCCAACAGTTGGA	0.428												
CPEB2	132864	broad.mit.edu	37	4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:15005738_15005739insGCG	uc003gnk.2	+	0	1441_1442	c.1441_1442insGCG	c.(1441-1443)agc>aGCGgc	p.487_488insG	BC113726_uc003gng.4_5'Flank|BC113726_uc003gnh.1_5'Flank|CPEB2_uc003gnl.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnm.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gni.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnn.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnj.2_In_Frame_Ins_p.487_488insG	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	50	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728												
CCDC158	339965	broad.mit.edu	37	4	77305567	77305567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:77305567G>A	uc003hkb.4	-	5	552	c.399_splice	c.e5-1	p.R133_splice	CCDC158_uc003hkd.3_Splice_Site_p.R133_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	133										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCTCCCTTCGTCTATGAAAT	0.313												
HEATR7B2	133558	broad.mit.edu	37	5	41051102	41051102	+	Missense_Mutation	SNP	G	G	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:41051102G>T	uc003jmj.4	-	12	1811	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	441							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATGACCAGTGGGTCCAGGGTT	0.408												
SNX24	28966	broad.mit.edu	37	5	122281829	122281829	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:122281829G>A	uc011cwo.2	+	2	393	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.3_Missense_Mutation_p.R75Q	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	75	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAACAGCGACGACAAGGCTTG	0.348												
SLC25A2	83884	broad.mit.edu	37	5	140682773	140682773	+	Silent	SNP	T	T	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:140682773T>C	uc003ljf.3	-	0	840	c.660A>G	c.(658-660)ggA>ggG	p.G220G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	220					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACAGGCAAATTCCAGCAACTC	0.443												
G3BP1	10146	broad.mit.edu	37	5	151170550	151170550	+	Missense_Mutation	SNP	A	A	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:151170550A>G	uc003lun.3	+	3	449	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.3_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	93	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGGTAGTCCAGGTGATGGGG	0.453												
MDC1	9656	broad.mit.edu	37	6	30671524	30671524	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:30671524C>G	uc003nrg.4	-	9	5876	c.5436G>C	c.(5434-5436)aaG>aaC	p.K1812N	MDC1_uc003nrf.4_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1812	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTAAAGACCTCTTGCGGCTTT	0.498								Other conserved DNA damage response genes				
KIAA1586	57691	broad.mit.edu	37	6	56918065	56918065	+	Missense_Mutation	SNP	A	A	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:56918065A>C	uc003pdj.3	+	3	938	c.768A>C	c.(766-768)ttA>ttC	p.L256F	KIAA1586_uc011dxm.2_Missense_Mutation_p.L229F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	256							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTACAGTTTAGTAAAACATA	0.279												
KCNQ5	56479	broad.mit.edu	37	6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:73904449C>T	uc011dyh.2	+	14	2515	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A714V|KCNQ5_uc010kat.3_Missense_Mutation_p.A695V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A704V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A454V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	704					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACTTTCTACGCGCTTAGCCCT	0.488												
IMPG1	3617	broad.mit.edu	37	6	76751736	76751736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:76751736G>A	uc003pik.1	-	1	305	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	59					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAATATTCGTCTCATAGTT	0.363												
NOX3	50508	broad.mit.edu	37	6	155776184	155776184	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:155776184G>A	uc003qqm.3	-	1	231	c.128C>T	c.(127-129)aCa>aTa	p.T43I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	43							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAACTCGTGTGTAATGGAA	0.343												
EGFR	1956	broad.mit.edu	37	7	55238894	55238894	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:55238894G>A	uc003tqk.3	+	15	2153	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	EGFR_uc022adm.1_Missense_Mutation_p.C636Y|EGFR_uc010kzg.2_Missense_Mutation_p.C591Y|EGFR_uc022adn.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.2_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	636					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.C636Y(2)		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)	CTTGAAGGCTGTCCAACGAAT	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
NSUN5P2	260294	broad.mit.edu	37	7	72419558	72419558	+	Nonsense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:72419558G>A	uc003two.3	-	4	657	c.466C>T	c.(466-468)Cga>Tga	p.R156*	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Intron|NSUN5P2_uc003twn.3_Nonsense_Mutation_p.R156*|NSUN5P2_uc003twm.3_Intron|NSUN5P2_uc003twp.3_Nonsense_Mutation_p.R156*|NSUN5P2_uc003twq.3_Silent_p.S158S|NSUN5P2_uc010lan.2_Nonsense_Mutation_p.R28*					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						CACAGGGCTCGCTGCTGGAAC	0.622												
CCL24	6369	broad.mit.edu	37	7	75442963	75442963	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:75442963G>A	uc011kga.2	-	0	130	c.71C>T	c.(70-72)aCg>aTg	p.T24M		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	24					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GGTCTTACCCGTAGGGATGAT	0.612												
HGF	3082	broad.mit.edu	37	7	81331979	81331979	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:81331979C>T	uc003uhl.3	-	17	2270	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	HGF_uc003uhm.3_Missense_Mutation_p.R697H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	702	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATACCAGGACGATTTGGAAT	0.403												
ZNF804B	219578	broad.mit.edu	37	7	88963595	88963595	+	Silent	SNP	C	C	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:88963595C>A	uc011khi.2	+	3	1837	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	433						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)		
COL1A2	1278	broad.mit.edu	37	7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:94055328G>C	uc003ung.1	+	44	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	988					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)		
SLC26A3	1811	broad.mit.edu	37	7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383												
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338												
SVOPL	136306	broad.mit.edu	37	7	138310791	138310791	+	Missense_Mutation	SNP	C	C	T	rs144549446		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:138310791C>T	uc011kqh.2	-	11	1186	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	SVOPL_uc003vue.3_Missense_Mutation_p.G244S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	396						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCAATCAGGCCGGCACTAGAA	0.507												
RIMS2	9699	broad.mit.edu	37	8	105001550	105001550	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:105001550G>A	uc003yls.3	+	14	2520	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	RIMS2_uc003ylp.3_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.3_Missense_Mutation_p.G774E|RIMS2_uc003ylr.3_Missense_Mutation_p.G821E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1044					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGAACAGGGGCTTCGAGGG	0.398										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:114290824C>T	uc003ynu.3	-	2	670	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	171	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
IFNA21	3452	broad.mit.edu	37	9	21166247	21166247	+	Missense_Mutation	SNP	C	C	G			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:21166247C>G	uc003zom.2	-	0	413	c.365G>C	c.(364-366)tGc>tCc	p.C122S		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	122					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTATCACGCAGGCTTCCAG	0.463												
S1PR3	1903	broad.mit.edu	37	9	91616623	91616623	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:91616623G>A	uc022bjm.1	+	0	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	S1PR3_uc004aqe.3_Missense_Mutation_p.A170T	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	170					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.A170A(1)|p.G169G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CACGCTGGGCGCCCTGCCCAT	0.557											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SURF4	6836	broad.mit.edu	37	9	136230519	136230519	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:136230519G>A	uc004cdj.3	-	5	790	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SURF4_uc011mda.2_Silent_p.N211N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N177N|SURF4_uc011mdc.2_Silent_p.N177N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	220						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TCCAGAAGGCGTTGAAATATA	0.488												
LCN1	3933	broad.mit.edu	37	9	138415760	138415760	+	Silent	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:138415760G>A	uc022bpk.1	+	3	387	c.327G>A	c.(325-327)tcG>tcA	p.S109S	LCN1_uc022bpj.1_Silent_p.S109S|LCN1_uc004cfz.2_Silent_p.S109S|LCN1_uc004cga.2_Silent_p.S109S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	109					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.S109S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCATCAGGTCGCACGTGAAGG	0.602												
MAGEB1	4112	broad.mit.edu	37	X	30269614	30269614	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:30269614G>A	uc022buh.1	+	0	1004	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	MAGEB1_uc004dcc.3_Missense_Mutation_p.R335H|MAGEB1_uc004dcd.3_Missense_Mutation_p.R335H|MAGEB1_uc004dce.3_Missense_Mutation_p.R335H	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTAGAGCGCGTTCTAGAGCC	0.507												
GRIA3	2892	broad.mit.edu	37	X	122460032	122460032	+	Missense_Mutation	SNP	G	G	A			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:122460032G>A	uc004etq.4	+	3	956	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_uc004etr.4_Missense_Mutation_p.E222K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	222					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GATTGACTGCGAAGTCGAAAG	0.423												
