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
KAZN	23254	broad.mit.edu	37	1	15428142	15428142	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:15428142G>A	uc001avm.4	+	10	1932	c.1651G>A	c.(1651-1653)Gat>Aat	p.D551N	KAZN_uc001avs.4_5'UTR	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	551	SAM 2.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCACCTGGTTGATGGGCGGAT	0.577												
HSPG2	3339	broad.mit.edu	37	1	22206668	22206668	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:22206668C>T	uc009vqd.3	-	16	2318	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HSPG2_uc001bfj.3_Missense_Mutation_p.G759S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	759	Laminin EGF-like 1; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGCAGGTGCCCAGGTAGGGC	0.577												
GBP5	115362	broad.mit.edu	37	1	89729595	89729595	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:89729595G>A	uc001dnc.3	-	8	1723	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GBP5_uc001dnd.3_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	396						plasma membrane	GTP binding|GTPase activity	p.R396Q(2)|p.R396L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCAGGTTCCGTTTACAAATG	0.378												
AMY2B	280	broad.mit.edu	37	1	104122114	104122114	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:104122114A>C	uc010ouo.2	+	21	3232	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	AMY2B_uc001duq.3_Missense_Mutation_p.K510Q|AMY2B_uc001dur.3_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	510					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCTGAATCtaaattataaaa	0.284												
FCRL3	115352	broad.mit.edu	37	1	157667597	157667597	+	Silent	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:157667597T>C	uc001fqz.4	-	4	703	c.411A>G	c.(409-411)ggA>ggG	p.G137G	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.G137G|FCRL3_uc001frc.1_Silent_p.G137G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	137	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAAGCTGTTTTCCATCCTTGT	0.363												
ZNF692	55657	broad.mit.edu	37	1	249148230	249148230	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:249148230G>T	uc001ifc.2	-	9	1270	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	ZNF692_uc001iez.2_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.2_Missense_Mutation_p.H149Q|ZNF692_uc010pzr.2_Missense_Mutation_p.H358Q|ZNF692_uc001iff.2_Missense_Mutation_p.H308Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGTGGATGTGCTGGTACT	0.512												
COL17A1	1308	broad.mit.edu	37	10	105823552	105823552	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr10:105823552G>A	uc001kxr.3	-	10	960	c.791C>T	c.(790-792)gCg>gTg	p.A264V	COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	264	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.A264A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGCAGGACGCCATGTTGTT	0.517												
OR8H2	390151	broad.mit.edu	37	11	55873034	55873034	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:55873034C>T	uc010riy.2	+	0	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)		
SUV420H1	51111	broad.mit.edu	37	11	67941367	67941370	+	Frame_Shift_Del	DEL	AAAT	AAAT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:67941367_67941370delAAAT	uc001onm.1	-	5	810_813	c.554_557delATTT	c.(553-558)tatttgfs	p.Y185fs	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACATTCGCAAATAAATAAATAC	0.319												
ADAMTS20	80070	broad.mit.edu	37	12	43770043	43770043	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:43770043A>T	uc010skx.2	-	33	5216	c.5216T>A	c.(5215-5217)aTa>aAa	p.I1739K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1739	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATACCTTTATTATTCTTCC	0.274												
NCKAP1L	3071	broad.mit.edu	37	12	54913072	54913072	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:54913072C>T	uc001sgc.4	+	15	1660	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	NCKAP1L_uc010sox.2_Silent_p.S69S|NCKAP1L_uc010soy.2_Silent_p.S477S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	527					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTGGACTCCGTAGAAAAAT	0.438												
PPFIA2	8499	broad.mit.edu	37	12	81688794	81688794	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:81688794C>T	uc001szo.2	-	23	2906	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.A841A|PPFIA2_uc021rbh.1_Silent_p.A816A|PPFIA2_uc021rbi.1_Silent_p.A915A|PPFIA2_uc021rbj.1_Silent_p.A915A|PPFIA2_uc021rbk.1_Silent_p.A900A|PPFIA2_uc021rbl.1_Silent_p.A915A|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.A482A|PPFIA2_uc021rbf.1_Silent_p.A132A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	841										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACGTACCACGCAGGCATTC	0.403												
MYO1H	283446	broad.mit.edu	37	12	109843786	109843786	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:109843786C>T	uc010sxn.1	+	6	861	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAAGAAGACGACCAAGGCT	0.498												
C12orf51	283450	broad.mit.edu	37	12	112703783	112703783	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:112703783C>T	uc021reb.1	-	14	2361	c.1965G>A	c.(1963-1965)gaG>gaA	p.E655E	C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACTGTTTCTCTCTCCTAACA	0.418												
ST13P4	145165	broad.mit.edu	37	13	50746904	50746904	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr13:50746904T>C	uc001vej.3	+	0	751	c.680T>C	c.(679-681)aTt>aCt	p.I227T	BCMS_uc010adl.1_Intron|BCMS_uc001vee.1_Intron|BCMS_uc010adm.1_Intron|BCMS_uc010adn.1_Intron|BCMS_uc001vef.1_Intron|BCMS_uc001veg.1_Intron|BCMS_uc010tgn.1_Intron|BCMS_uc001vei.1_Intron|BCMS_uc010ado.1_Intron|BCMS_uc010adp.1_Intron					Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4 (ST13P4), non-coding RNA.																		GCACAGAAAATTGCAGAACAT	0.428												
ATP8B4	79895	broad.mit.edu	37	15	50254197	50254197	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr15:50254197C>A	uc001zxu.3	-	13	1406	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	ATP8B4_uc010ber.3_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	422					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTCTGATCCAGGTCATCA	0.264												
ITFG3	83986	broad.mit.edu	37	16	315011	315012	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:315011_315012delGT	uc002cgf.3	+	12	1844_1845	c.1649_1650delGT	c.(1648-1650)agtfs	p.S550fs	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Frame_Shift_Del_p.S550fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	550						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGTACCAGAGTGAGGCGTAGA	0.649												
UMOD	7369	broad.mit.edu	37	16	20357449	20357449	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:20357449G>A	uc002dhb.3	-	6	1410	c.1281_splice	c.e6+1	p.T427_splice	UMOD_uc002dgz.3_Splice_Site_p.T394_splice|UMOD_uc002dha.3_Splice_Site_p.T394_splice	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567												
NOD2	64127	broad.mit.edu	37	16	50731207	50731209	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:50731207_50731209delTCC	uc002egm.1	+	0	158_160	c.53_55delTCC	c.(52-57)gtcctc>gtc	p.L20del	NOD2_uc010cbj.1_Intron|NOD2_uc021tia.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	20					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGCAAGTGTCCTCCTCGGACA	0.601												
ATP2C2	9914	broad.mit.edu	37	16	84472802	84472802	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:84472802G>A	uc010chj.3	+	11	1106	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ATP2C2_uc002fhx.3_Silent_p.L339L|ATP2C2_uc002fhy.3_Silent_p.L356L|ATP2C2_uc002fhz.3_Silent_p.L188L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	339					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGAGGGTCTGCCCATCGTCG	0.572												
UBC	7316	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr17:21730916G>T	uc002gyy.3	+	1	343	c.218G>T	c.(217-219)cGg>cTg	p.R73L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	225	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.R73L(24)|p.R72S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCGGAGAGGTGGT	0.552												
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:40395919G>A	uc002omp.4	-	14	7486	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627												
RAB4B	53916	broad.mit.edu	37	19	41292794	41292794	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41292794G>A	uc002opd.2	+	6	725	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.G216R	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	190					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATTCAGTACGGGGATGCGTC	0.682												
AXL	558	broad.mit.edu	37	19	41726597	41726597	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41726597C>T	uc010ehj.3	+	1	332	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.3_Missense_Mutation_p.R48W	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	48	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R48W(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACAGGTGCCCGGGGACTCAC	0.622												
ERCC1	2067	broad.mit.edu	37	19	45912970	45912970	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:45912970A>G	uc002pbs.2	-	9	1003	c.857T>C	c.(856-858)tTt>tCt	p.F286S	CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.2_Missense_Mutation_p.F262S|ERCC1_uc002pbu.2_Missense_Mutation_p.F214S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	286					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.L285M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAGGACATCAAACAGCCTCCG	0.502								Nucleotide excision repair (NER)				
NCR1	9437	broad.mit.edu	37	19	55420770	55420770	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:55420770G>C	uc002qib.2	+	3	560	c.522G>C	c.(520-522)gaG>gaC	p.E174D	NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	174	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCAGGCGGAGTTCCCCCTGG	0.572												
ALLC	55821	broad.mit.edu	37	2	3743415	3743415	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:3743415G>T	uc010ewt.3	+	7	781	c.620G>T	c.(619-621)tGt>tTt	p.C207F	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	226							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGGGTGTCTGTGTAGGATTT	0.448										HNSCC(21;0.051)		
TMEM182	130827	broad.mit.edu	37	2	103379127	103379133	+	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:103379127_103379133delATTTGGA	uc010fjb.3	+	1	401_407	c.214_220delATTTGGA	c.(214-222)atttggaagfs	p.I72fs	TMEM182_uc002tcc.4_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.4_5'UTR	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGACTCCAATATTTGGAAGTTCTGGTA	0.362												
ITGB6	3694	broad.mit.edu	37	2	161025770	161025770	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:161025770C>T	uc002ubh.2	-	6	985	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	324	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATAACACGTTGTTTTGT	0.294												
DNAH7	56171	broad.mit.edu	37	2	196865488	196865488	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:196865488G>A	uc002utj.4	-	11	1394	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	431	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATCATGACGTCATAAACAT	0.338												
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626												
CHGB	1114	broad.mit.edu	37	20	5903131	5903131	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:5903131G>A	uc002wmg.3	+	3	647	c.341G>A	c.(340-342)gGc>gAc	p.G114D	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	114						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACATCCAAGGCCCAACAAAG	0.607												
LSM14B	149986	broad.mit.edu	37	20	60697790	60697790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:60697790G>A	uc010gjy.1	+	0	274	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	23					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCAGATCCGCTACGAGGGC	0.706												
KRTAP19-1	337882	broad.mit.edu	37	21	31852408	31852408	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:31852408G>A	uc011acx.2	-	0	229	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACGATGGGCGGCAGCAGCCA	0.488												
KRTAP20-2	337976	broad.mit.edu	37	21	32007726	32007726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:32007726T>A	uc011adg.2	+	0	144	c.144T>A	c.(142-144)taT>taA	p.Y48*		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	48						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GCTATGGATATGGCTGCTGCC	0.557												
BCL2L13	23786	broad.mit.edu	37	22	18178948	18178948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:18178948C>T	uc002zmw.3	+	4	646	c.428C>T	c.(427-429)aCc>aTc	p.T143I	BCL2L13_uc002zmu.3_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Intron	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	143					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACACTGGAGACCACAGTTCAT	0.383												
TMPRSS6	164656	broad.mit.edu	37	22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667												
TBC1D22A	25771	broad.mit.edu	37	22	47189513	47189513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:47189513G>A	uc003bib.3	+	2	401	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TBC1D22A_uc010haf.3_Missense_Mutation_p.D49N|TBC1D22A_uc003bie.3_Missense_Mutation_p.D60N|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.D32N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	79						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGACGACGATGAGCTCCT	0.647												
FBLN2	2199	broad.mit.edu	37	3	13672223	13672223	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:13672223G>A	uc011avc.2	+	14	3375	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	FBLN2_uc011auz.2_Missense_Mutation_p.R977H|FBLN2_uc011avb.2_Missense_Mutation_p.R951H|FBLN2_uc011ava.2_Missense_Mutation_p.R998H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	990	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCCAGCGCTGCAGCCAG	0.607												
ATP11B	23200	broad.mit.edu	37	3	182585181	182585181	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:182585181T>C	uc003flb.3	+	14	1894	c.1637T>C	c.(1636-1638)aTt>aCt	p.I546T	ATP11B_uc003flc.3_Missense_Mutation_p.I130T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	546					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTGTGTTTATTGGCAATTCT	0.294												
CTBP1	1487	broad.mit.edu	37	4	1206064	1206064	+	Silent	SNP	G	G	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:1206064G>C	uc003gcw.3	-	8	1455	c.1290C>G	c.(1288-1290)ccC>ccG	p.P430P	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcv.1_Silent_p.P429P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	429					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TATCCGCCTCGGGCTTGACGG	0.692												
CLNK	116449	broad.mit.edu	37	4	10515205	10515205	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:10515205C>A	uc003gmo.4	-	15	926	c.789G>T	c.(787-789)atG>atT	p.M263I		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	263					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACAGGGCTGCATGCCTCCTC	0.502												
Unknown	441032	broad.mit.edu	37	4	106406491	106406491	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:106406491delA								PPA2 (11264 upstream) : ARHGEF38 (67286 downstream)																							CAAGGGATGGAAAGTCACCCG	0.532												
DCHS2	54798	broad.mit.edu	37	4	155252747	155252747	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:155252747C>T	uc003inw.2	-	9	2353	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	785	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctcctaattcacagaaCAGA	0.483												
CTNND2	1501	broad.mit.edu	37	5	11022883	11022883	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:11022883A>C	uc003jfa.1	-	16	3142	c.2997T>G	c.(2995-2997)gaT>gaG	p.D999E	CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	999					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAACTTACTTATCTCCTTTGC	0.488												
PCDHAC2	56140	broad.mit.edu	37	5	140222517	140222517	+	Silent	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:140222517G>A	uc003lhs.2	+	0	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A537A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667												
DOCK2	1794	broad.mit.edu	37	5	169122848	169122848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:169122848G>T	uc003maf.3	+	9	965	c.885G>T	c.(883-885)ttG>ttT	p.L295F	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	295					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTACTTGATTTGTCAAA	0.463												
HCRTR2	3062	broad.mit.edu	37	6	55142306	55142306	+	Silent	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr6:55142306A>G	uc003pcl.3	+	4	1206	c.891A>G	c.(889-891)cgA>cgG	p.R297R	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	297					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGATCCGAGCCAGAAGGA	0.493												
GHRHR	2692	broad.mit.edu	37	7	31016925	31016925	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:31016925C>T	uc003tbx.3	+	11	1182	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	GHRHR_uc003tby.3_Silent_p.F314F|GHRHR_uc003tbz.3_Missense_Mutation_p.P145S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	378					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCTACTGCTTCCTCAACCAAG	0.552												
EGFR	1956	broad.mit.edu	37	7	55221781	55221781	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221781C>T	uc003tqk.3	+	6	1071	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_uc003tqh.3_Silent_p.Y275Y|EGFR_uc003tqi.3_Silent_p.Y275Y|EGFR_uc003tqj.3_Silent_p.Y275Y|EGFR_uc022adm.1_Silent_p.Y275Y|EGFR_uc010kzg.2_Silent_p.Y230Y|EGFR_uc022adn.1_Silent_p.Y230Y|EGFR_uc011kco.2_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	275					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.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCACCACGTACCAGATGGATG	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221796	55221796	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221796C>T	uc003tqk.3	+	6	1086	c.840C>T	c.(838-840)aaC>aaT	p.N280N	EGFR_uc003tqh.3_Silent_p.N280N|EGFR_uc003tqi.3_Silent_p.N280N|EGFR_uc003tqj.3_Silent_p.N280N|EGFR_uc022adm.1_Silent_p.N280N|EGFR_uc010kzg.2_Silent_p.N235N|EGFR_uc022adn.1_Silent_p.N235N|EGFR_uc011kco.2_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	280					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.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGATGTGAACCCCGAGGGCA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AT	rs149840192		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221821_55221822GC>AT	uc003tqk.3	+	6	1111_1112	c.865_866GC>AT	c.(865-867)gcc>ATc	p.A289I	EGFR_uc003tqh.3_Missense_Mutation_p.A289I|EGFR_uc003tqi.3_Missense_Mutation_p.A289I|EGFR_uc003tqj.3_Missense_Mutation_p.A289I|EGFR_uc022adm.1_Missense_Mutation_p.A289I|EGFR_uc010kzg.2_Missense_Mutation_p.A244I|EGFR_uc022adn.1_Missense_Mutation_p.A244I|EGFR_uc011kco.2_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					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.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SEMA3E	9723	broad.mit.edu	37	7	82997221	82997221	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:82997221A>C	uc003uhy.2	-	16	2630	c.2009T>G	c.(2008-2010)tTg>tGg	p.L670W	SEMA3E_uc022agy.1_Missense_Mutation_p.L610W	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	670					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACTACCTCCAAGGTGATTTT	0.468												
ZAN	7455	broad.mit.edu	37	7	100350611	100350611	+	Silent	SNP	A	A	G			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:100350611A>G	uc003uwj.3	+	13	3048	c.2883A>G	c.(2881-2883)aaA>aaG	p.K961K	ZAN_uc003uwk.3_Silent_p.K961K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	961	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.512												
LAMB4	22798	broad.mit.edu	37	7	107706946	107706946	+	Missense_Mutation	SNP	C	C	T	rs148837121		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:107706946C>T	uc010ljo.1	-	19	2630	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	849	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCAGGCAGCGATCACAGCG	0.532												
MLL3	58508	broad.mit.edu	37	7	151892993	151892993	+	Silent	SNP	T	T	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:151892993T>C	uc003wla.3	-	28	4597	c.4378_splice	c.e28+1	p.D1460_splice	MLL3_uc003wkz.3_Splice_Site_p.D521_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1460					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATATATACCTGAATGATCAA	0.363			N		medulloblastoma							
PREX2	80243	broad.mit.edu	37	8	69104577	69104577	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr8:69104577G>A	uc003xxv.1	+	36	4448	c.4421G>A	c.(4420-4422)aGg>aAg	p.R1474K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1474					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTAATGAGGCCTCTCAAC	0.413												
LPAR1	1902	broad.mit.edu	37	9	113704320	113704320	+	Silent	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:113704320A>C	uc011lwo.2	-	1	179	c.177T>G	c.(175-177)acT>acG	p.T59T	LPAR1_uc004bfa.3_Silent_p.T58T|LPAR1_uc011lwm.2_Silent_p.T59T|LPAR1_uc004bfc.3_Silent_p.T58T|LPAR1_uc011lwn.2_Silent_p.T40T|LPAR1_uc004bfb.3_Silent_p.T58T|LPAR1_uc010mub.3_Silent_p.T58T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	58					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAAACAGTGATTCCAA	0.438												
TRAF1	7185	broad.mit.edu	37	9	123675735	123675735	+	Silent	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:123675735C>T	uc004bku.2	-	4	1148	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRAF1_uc011lyg.2_Silent_p.G70G|TRAF1_uc010mvl.2_Silent_p.G192G	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612												
GOLGA1	2800	broad.mit.edu	37	9	127670739	127670739	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:127670739C>T	uc004bpc.3	-	11	1324	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	328						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAATTCTGCTCAGCAAGTGTT	0.418												
KCNT1	57582	broad.mit.edu	37	9	138667205	138667205	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:138667205A>C	uc011mdq.2	+	19	2367	c.2293A>C	c.(2293-2295)Acc>Ccc	p.T765P	KCNT1_uc011mdr.2_Missense_Mutation_p.T592P|KCNT1_uc010nbf.3_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	765						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCCAACCCTGTGCCA	0.662												
SCML2	10389	broad.mit.edu	37	X	18275064	18275064	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:18275064G>A	uc004cyl.2	-	10	1517	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	454					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGCAGACTGTGGCAGAAGTTC	0.468												
KLHL13	90293	broad.mit.edu	37	X	117054239	117054239	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:117054239A>T	uc011mtp.2	-	3	477	c.344T>A	c.(343-345)aTg>aAg	p.M115K	KLHL13_uc004eqk.3_Missense_Mutation_p.M61K|KLHL13_uc004eql.3_Missense_Mutation_p.M112K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.M106K|KLHL13_uc011mtq.2_Missense_Mutation_p.M96K|KLHL13_uc004eqm.3_Missense_Mutation_p.M70K|KLHL13_uc022cde.1_Missense_Mutation_p.M96K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	112	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGATGCCATCATGACTCT	0.408												
