Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ECSIT	51295	broad.mit.edu	37	19	11617043	11617043	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:11617043C>T	ENST00000270517.7	-	8	1387	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ECSIT_ENST00000417981.2_Missense_Mutation_p.E204K|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000591104.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	418					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCGTCTTCTTCCTGGTGGTCC	0.701000													28	77					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587000													4	16					0	0	1	0	0
BRIX1	55299	broad.mit.edu	37	5	34923315	34923315	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:34923315T>G	ENST00000336767.5	+	8	1002	c.639T>G	c.(637-639)aaT>aaG	p.N213K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	213	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTTTGGATAATAGGATATGGT	0.323000													4	46					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120307	64120307	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64120307C>T	ENST00000356786.5	+	20	3492	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302W|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1150					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGGGCATCGGCAGCGGGG	0.692000													5	27					0	0	1	0	0
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:89058940C>A	ENST00000286614.6	-	9	1727	c.1446G>T	c.(1444-1446)ggG>ggT	p.G482G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCAGGGATCCCTTTCCAGA	0.378000													18	37					3.99206e-14	4.67287e-14	1	1	0
ENC1	8507	broad.mit.edu	37	5	73931269	73931269	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:73931269G>T	ENST00000302351.4	-	2	2172	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	ENC1_ENST00000537006.1_Silent_p.R348R|ENC1_ENST00000510316.1_Silent_p.R275R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	348					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTA	0.532000													45	56					1.23713e-20	1.5312e-20	1	1	0
SRCAP	10847	broad.mit.edu	37	16	30735384	30735384	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:30735384C>T	ENST00000262518.4	+	25	5024	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1485S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1389S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1547	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCATGCTCACCTGTCCTGGT	0.572000													12	49					0	0	1	0	0
NPDC1	56654	broad.mit.edu	37	9	139934263	139934263	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:139934263C>T	ENST00000371600.3	-	8	1845	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	NPDC1_ENST00000371601.4_Silent_p.A313A			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	313						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCGGCAGGGGCGCGGACAGTG	0.711000													11	27					0	0	1	0	0
STX1A	6804	broad.mit.edu	37	7	73117273	73117273	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:73117273C>T	ENST00000222812.3	-	8	606	c.580G>A	c.(580-582)Gag>Aag	p.E194K	STX1A_ENST00000395156.3_Missense_Mutation_p.E194K|STX1A_ENST00000395154.3_Missense_Mutation_p.E194K|STX1A_ENST00000395155.3_Missense_Mutation_p.E194K|WBSCR22_ENST00000423166.2_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	194	t-SNARE coiled-coil homology.				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	p.E194K(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCTCAATCTCGCTCAGAGCC	0.607000													18	57					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29556329	29556329	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:29556329T>G	ENST00000383640.2	+	1	647	c.608T>G	c.(607-609)tTc>tGc	p.F203C	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	203					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCAGTGTCTTCATCTTGGTT	0.512000													47	115					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													5	67					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064695	37064695	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:37064695G>C	ENST00000282516.8	+	47	8615	c.8116G>C	c.(8116-8118)Gac>Cac	p.D2706H		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2706					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAAGTGTTGACGTCATGGA	0.438000													54	120					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181360	19181360	+	Missense_Mutation	SNP	G	G	A	rs145050419		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19181360G>A	ENST00000375371.3	-	3	625	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	202					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.R202C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGTTCCAGCGGAAGTGCAGC	0.642000													15	26					0	0	1	0	0
FN3K	64122	broad.mit.edu	37	17	80696461	80696461	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:80696461C>T	ENST00000300784.7	+	2	300	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	80					fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATCGACCTGCCGGGAGGTGG	0.627000													25	66					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57333850	57333850	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:57333850G>A	ENST00000342756.5	+	1	770	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	SRP72_ENST00000510663.1_Missense_Mutation_p.E17K|SRP72_ENST00000504757.1_Missense_Mutation_p.E17K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	17					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCTGTGGAGTGAAGTGAACCG	0.677000													9	40					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004364	187004364	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:187004364G>A	ENST00000296795.2	+	4	1628	c.1524G>A	c.(1522-1524)ttG>ttA	p.L508L	TLR3_ENST00000504367.1_Silent_p.L231L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	508					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTCGTAACTTGACCATTCTGG	0.448000													29	101					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89498523	89498523	+	Splice_Site	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:89498523A>G	ENST00000336596.2	+	14	2720	c.2496_splice	c.e14+1	p.D832_splice	EPHA3_ENST00000494014.1_Splice_Site_p.D832_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	832	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATCAGGATGTAAGTATT	0.443000										TSP Lung(6;0.00050)			7	101					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296613	219296613	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:219296613C>A	ENST00000248444.5	+	11	1224	c.1136C>A	c.(1135-1137)tCc>tAc	p.S379Y	VIL1_ENST00000392114.2_Missense_Mutation_p.S68Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	379	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGCCACATCCATGCATGTC	0.567000													25	14					7.76418e-22	9.68919e-22	1	1	0
C10orf62	414157	broad.mit.edu	37	10	99349663	99349663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:99349663G>A	ENST00000370640.3	+	1	214	c.9G>A	c.(7-9)tgG>tgA	p.W3*	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	3							protein binding			endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCATGCTGTGGGTTCAGAGAA	0.502000													32	110					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39710705	39710705	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710705C>T	ENST00000216146.4	-	6	1008	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.E227K	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	279					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TTGTTGATCTCAGTGCGGTGA	0.612000													8	24					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80921300	80921300	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:80921300G>A	ENST00000376588.3	+	5	536	c.468G>A	c.(466-468)acG>acA	p.T156T	PSAT1_ENST00000347159.2_Silent_p.T156T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	156					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CAAATGAGACGGTGCATGGTG	0.468000													151	357					0	0	1	0	0
ABHD17B	51104	broad.mit.edu	37	9	74489704	74489704	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:74489704T>C	ENST00000333421.6	-	2	404	c.293A>G	c.(292-294)cAt>cGt	p.H98R	ABHD17B_ENST00000377041.2_Missense_Mutation_p.H98R	NM_001025780.1	NP_001020951.1			abhydrolase domain containing 17B																		AGCATTTCCATGTGAGAAGAG	0.363000													52	104					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39713611	39713611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39713611C>A	ENST00000216146.4	-	3	393	c.220G>T	c.(220-222)Gag>Tag	p.E74*	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Nonsense_Mutation_p.E22*	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GTCACAGCCTCCACCACCTCC	0.512000													56	160					9.16383e-17	1.09821e-16	1	1	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													4	141					0	0	1	0	0
PACS2	23241	broad.mit.edu	37	14	105821492	105821492	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105821492C>T	ENST00000447393.1	+	4	576	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PACS2_ENST00000458164.2_Missense_Mutation_p.A134V|PACS2_ENST00000430725.2_Missense_Mutation_p.A67V|PACS2_ENST00000325438.8_Missense_Mutation_p.A134V|PACS2_ENST00000547217.1_Missense_Mutation_p.A104V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	134					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGCTGGCCGCGGGCTCCATC	0.607000													21	58					0	0	1	0	0
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G						neuroblastoma breakpoint family, member 8																		GATGAGAAAGAGCCTGAAGTC	0.483000													5	151					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	66					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499650	141499650	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:141499650G>T	ENST00000264952.2	+	2	1184	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	349	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCATCACCCAGAGGGTGAGTG	0.567000													11	27					4.68919e-08	5.16838e-08	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390404	197390404	+	Silent	SNP	C	C	T	rs150894028		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:197390404C>T	ENST00000367400.3	+	6	1581	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	CRB1_ENST00000543483.1_Silent_p.I181I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I482I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.I413I|CRB1_ENST00000367399.2_Silent_p.I370I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	482					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGTGAAATCGCAACCACAC	0.493000													18	41					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994657	144994657	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:144994657G>T	ENST00000369359.4	-	4	524	c.486C>A	c.(484-486)cgC>cgA	p.R162R	PDE4DIP_ENST00000369356.4_Silent_p.R25R|PDE4DIP_ENST00000530740.1_Silent_p.R162R|PDE4DIP_ENST00000313382.9_Silent_p.R91R|PDE4DIP_ENST00000369347.4_Silent_p.R25R|PDE4DIP_ENST00000369348.3_Silent_p.R162R|PDE4DIP_ENST00000369349.3_Silent_p.R25R|PDE4DIP_ENST00000369351.3_Silent_p.R25R|PDE4DIP_ENST00000369354.3_Silent_p.R25R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	25					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R25R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGTAGATGCGCAGCTTGA	0.582000			T	PDGFRB	MPD								22	168					1.10923e-09	1.2407e-09	1	1	0
PNPLA2	57104	broad.mit.edu	37	11	821849	821849	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:821849G>A	ENST00000336615.4	+	3	611	c.409G>A	c.(409-411)Gag>Aag	p.E137K		NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	137	Patatin.				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAAGGACGAGCTCATCCA	0.617000													32	62					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943213	144943213	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943213G>T	ENST00000525985.1	-	2	4280	c.4209C>A	c.(4207-4209)ttC>ttA	p.F1403L				P58107	EPIPL_HUMAN	epiplakin 1	1403						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGTCAAAGAAGAACTTGT	0.627000													13	49					2.27111e-07	2.44955e-07	1	1	0
CTAGE5	4253	broad.mit.edu	37	14	39815174	39815174	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:39815174G>A	ENST00000553728.1	+	25	3716	c.3503G>A	c.(3502-3504)aGa>aAa	p.R1168K	CTAGE5_ENST00000557038.1_Missense_Mutation_p.R553K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R604K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R638K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R633K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R621K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R558K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R590K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R633K																							AATTCTGGTAGACTGTCTGGA	0.348000													23	49					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202626249	202626249	+	Silent	SNP	C	C	T	rs145506395	by1000genomes	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:202626249C>T	ENST00000264276.6	-	4	840	c.468G>A	c.(466-468)gcG>gcA	p.A156A	ALS2_ENST00000467448.1_Silent_p.A156A|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	156					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTCGCCACACGCCAACTGTA	0.522000													26	33					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49771952	49771952	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:49771952G>T	ENST00000492622.2	+	21	2737	c.2432G>T	c.(2431-2433)gGt>gTt	p.G811V	FNDC3A_ENST00000541916.1_Missense_Mutation_p.G811V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G755V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	811	Fibronectin type-III 6.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTGGGCCTGGTCTCAGTTAT	0.413000													22	57					2.37509e-13	2.71696e-13	1	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140718660	140718660	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140718660G>C	ENST00000394576.2	+	1	122	c.122G>C	c.(121-123)aGa>aCa	p.R41T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCGACAGAGGCTCCTTC	0.612000											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	91					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952346	141952346	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:141952346G>T	ENST00000552471.1	-	4	841	c.522C>A	c.(520-522)atC>atA	p.I174I	PRSS58_ENST00000547058.2_Silent_p.I174I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	174	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCCGTGATGTTGTAGG	0.433000													27	92					2.44723e-14	2.88697e-14	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105408332	105408332	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105408332C>A	ENST00000333244.5	-	7	13575	c.13456G>T	c.(13456-13458)Gtg>Ttg	p.V4486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACACATCCACCGAGACCTCG	0.562000													67	158					6.26901e-30	8.02221e-30	1	1	0
PMS1	5378	broad.mit.edu	37	2	190717430	190717430	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:190717430C>T	ENST00000441310.2	+	7	982	c.749C>T	c.(748-750)aCt>aTt	p.T250I	PMS1_ENST00000418224.3_Missense_Mutation_p.T74I|PMS1_ENST00000432292.3_Missense_Mutation_p.T74I|PMS1_ENST00000409823.3_Missense_Mutation_p.T211I|PMS1_ENST00000447232.2_Missense_Mutation_p.T250I|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	250					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CACTCTTTCACTAGTCTTTCA	0.328000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					27	68					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108188927	108188927	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:108188927C>A	ENST00000273353.3	-	15	1632	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	526	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAATCCAGACCAAAGCCAATA	0.368000													20	56					2.98393e-07	3.19556e-07	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:32725567C>T	ENST00000435145.2	-	4	801	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													4	37					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109760	160109760	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:160109760G>A	ENST00000361216.3	+	22	3109	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCATCCTGCGGCGGTATCCT	0.587000													31	67					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110853209	110853209	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:110853209C>T	ENST00000375820.4	-	20	1233	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G371E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	371	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGGAGGTCCGGGTTGGCC	0.393000													15	46					0	0	1	0	0
PRTFDC1	56952	broad.mit.edu	37	10	25144250	25144250	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:25144250C>T	ENST00000320152.6	-	7	578	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.D184N	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	184					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CACTTACAGTCAGGTCTAAAG	0.328000													16	23					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39504009	39504009	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:39504009C>T	ENST00000518318.2	+	10	1734	c.1692C>T	c.(1690-1692)atC>atT	p.I564I	POU6F2_ENST00000559001.1_Silent_p.I545I|POU6F2_ENST00000403058.1_Silent_p.I600I			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	600	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGAGTTTATCGGGAGTGAAC	0.572000													17	44					0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23415528	23415528	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:23415528A>G	ENST00000302291.4	-	5	3892	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R	LUZP1_ENST00000418342.1_Missense_Mutation_p.C1031R|LUZP1_ENST00000374623.3_Missense_Mutation_p.C1031R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1031						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTGAGTGTACAGTCTTCCCCT	0.552000													31	110					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98744493	98744493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:98744493G>A	ENST00000286067.2	+	1	3453	c.3346G>A	c.(3346-3348)Gat>Aat	p.D1116N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1116										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAGCATGCTGATGGAGCCAC	0.502000													31	65					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203890	56203890	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr18:56203890C>T	ENST00000361673.3	-	5	3742	c.3529G>A	c.(3529-3531)Gca>Aca	p.A1177T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1177							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTAGAGCTTGCGGGTGAGTGG	0.572000													4	184					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196458986	196458986	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:196458986G>C	ENST00000367433.5	-	3	358	c.257C>G	c.(256-258)cCt>cGt	p.P86R	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.P86R|KCNT2_ENST00000294725.8_Missense_Mutation_p.P86R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	86						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCTTGTGAAGGGTTTTCTAG	0.294000													25	79					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368779	22368779	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:22368779C>A	ENST00000332663.2	+	1	302	c.204C>A	c.(202-204)ttC>ttA	p.F68L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCTGGCCTTCCTTGATATTT	0.413000													62	336					5.73376e-24	7.21498e-24	1	1	0
SPATA6L	55064	broad.mit.edu	37	9	4622510	4622510	+	Splice_Site	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:4622510C>T	ENST00000454239.2	-	8	915	c.669_splice	c.e8-1	p.V224_splice	SPATA6L_ENST00000475086.1_Splice_Site_p.V166_splice|SPATA6L_ENST00000381895.5_Splice_Site_p.V101_splice|SPATA6L_ENST00000381890.5_Splice_Site_p.V238_splice			B4DIY4	B4DIY4_HUMAN	spermatogenesis associated 6-like	166																	GCACTGTCCACCTGAAAGTAA	0.428000													16	49					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179877788	179877788	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:179877788G>T	ENST00000435319.3	+	8	1078	c.887G>T	c.(886-888)aGa>aTa	p.R296I	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R297I|TOR1AIP1_ENST00000474875.1_3'UTR	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	296						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAAACTGCAAGAATAAGGACC	0.328000													8	26					0.0809354	0.0814749	1	1	0
DOCK8	81704	broad.mit.edu	37	9	405019	405019	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:405019T>G	ENST00000432829.2	+	27	3448	c.3132T>G	c.(3130-3132)ttT>ttG	p.F1044L	DOCK8_ENST00000382331.1_Missense_Mutation_p.F414L|DOCK8_ENST00000453981.1_Missense_Mutation_p.F1112L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F579L|DOCK8_ENST00000469391.1_Missense_Mutation_p.F1012L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1112					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAACCTTTTTTTTATGAATG	0.383000													9	22					0	0	1	0	0
HOXC4	3221	broad.mit.edu	37	12	54447714	54447714	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:54447714T>A	ENST00000430889.2	+	1	54	c.8T>A	c.(7-9)aTg>aAg	p.M3K	HOXC4_ENST00000303406.4_Missense_Mutation_p.M3K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	3						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTAATGATCATGAGCTCGTAT	0.398000													36	61					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90816327	90816327	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:90816327C>G	ENST00000394980.1	+	2	524	c.205C>G	c.(205-207)Cca>Gca	p.P69A	MMRN1_ENST00000264790.2_Missense_Mutation_p.P69A|MMRN1_ENST00000394981.1_Missense_Mutation_p.P69A			Q13201	MMRN1_HUMAN	multimerin 1	69					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCTACAACTCCAGAGGCAAG	0.453000													18	75					0	0	1	0	0
ZNF789	285989	broad.mit.edu	37	7	99084464	99084464	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:99084464A>G	ENST00000331410.5	+	5	901	c.631A>G	c.(631-633)Agg>Ggg	p.R211G	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAAGTCATTAGGCGTAAGGC	0.428000													4	158					0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43020903	43020903	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:43020903G>T	ENST00000356231.3	-	20	2774	c.2751C>A	c.(2749-2751)atC>atA	p.I917I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	917						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGAACACAAGATCTCCAACA	0.612000													33	89					1.36161e-19	1.65809e-19	1	1	0
CD19	930	broad.mit.edu	37	16	28943929	28943929	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:28943929C>A	ENST00000538922.1	+	2	413	c.351C>A	c.(349-351)ggC>ggA	p.G117G	CD19_ENST00000567541.1_Silent_p.G117G|CD19_ENST00000324662.3_Silent_p.G117G	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	117					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGTGGAGGGCAGCGGTGAGG	0.662000													6	14					0.0215528	0.0219896	1	1	0
SYNJ2	8871	broad.mit.edu	37	6	158509796	158509796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:158509796C>T	ENST00000355585.4	+	24	3523	c.3448C>T	c.(3448-3450)Cag>Tag	p.Q1150*	SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.Q1105*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.Q235*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.Q1150*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1150							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGAGCACCTCAGCAACCTGT	0.463000													27	85					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59770874	59770874	+	Splice_Site	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:59770874C>G	ENST00000259008.2	-	18	2760		c.e18-1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTAATACATCTAGAAAAAAT	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					12	45					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40134298	40134298	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:40134298C>T	ENST00000457167.4	-	11	1442	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	DNAJC7_ENST00000316603.7_Silent_p.R346R|DNAJC7_ENST00000426588.3_Silent_p.R346R	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	402	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGGCCCGTTTCCGATAAGCTT	0.532000													28	42					0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176988200	176988200	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:176988200G>T	ENST00000249499.6	+	1	1113	c.704G>T	c.(703-705)gGg>gTg	p.G235V	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	235						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGCGACTGGGACGGGCGGC	0.701000													4	10					0.00024832	0.000256824	1	1	0
RPL3	6122	broad.mit.edu	37	22	39710694	39710694	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710694C>G	ENST00000216146.4	-	6	1019	c.846G>C	c.(844-846)aaG>aaC	p.K282N	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.K230N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	282					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					ACCTCACCTTCTTGTTGATCT	0.597000													8	22					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	38					0	0	1	0	0
ELF4	2000	broad.mit.edu	37	X	129201241	129201241	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:129201241G>A	ENST00000308167.5	-	9	1826	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	ELF4_ENST00000335997.7_Missense_Mutation_p.L483F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	483					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGCCACTGAGAATCAGTGGA	0.647000			T	ERG	AML								27	26					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35168166	35168166	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:35168166C>T	ENST00000156471.5	-	28	3432	c.3207G>A	c.(3205-3207)gaG>gaA	p.E1069E		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1069						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCTATCTCCAGAATCT	0.358000													15	48					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60589725	60589725	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr20:60589725T>C	ENST00000252996.3	-	2	1398	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	467					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAGGAATCATTAACAACTGC	0.632000													46	87					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	163					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64574192	64574192	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:64574192C>G	ENST00000242480.3	-	2	531	c.206G>C	c.(205-207)aGg>aCg	p.R69T	EGR2_ENST00000411732.1_Missense_Mutation_p.R19T|EGR2_ENST00000439032.1_Missense_Mutation_p.R69T|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	69					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCAACGACCTCTTCTCTCC	0.507000													18	57					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69728029	69728029	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:69728029C>G	ENST00000260363.4	+	12	1308	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L	KIF23_ENST00000558585.1_Missense_Mutation_p.F214L|KIF23_ENST00000395392.2_Missense_Mutation_p.F397L|KIF23_ENST00000352331.4_Missense_Mutation_p.F397L|KIF23_ENST00000559279.1_Missense_Mutation_p.F397L|KIF23_ENST00000537891.1_Missense_Mutation_p.F214L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	397					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCCATCTGTTCAAGAACTACT	0.358000													16	43					0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178854323	178854323	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:178854323G>A	ENST00000367635.3	+	12	1355	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RALGPS2_ENST00000367634.2_Silent_p.R339R|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Silent_p.R304R	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	339					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGACATAGGAAGTGCCATA	0.408000													17	42					0	0	1	0	0
ARL1	400	broad.mit.edu	37	12	101796647	101796647	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:101796647T>C	ENST00000261636.8	-	3	394	c.220A>G	c.(220-222)Atc>Gtc	p.I74V	ARL1_ENST00000551671.1_Missense_Mutation_p.I74V|ARL1_ENST00000551828.1_Missense_Mutation_p.I57V|ARL1_ENST00000536227.1_Missense_Mutation_p.I57V|ARL1_ENST00000539055.1_Missense_Mutation_p.I28V|ARL1_ENST00000551688.1_Intron	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	74					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CCATACCTGATACTTGTCTGT	0.353000													15	23					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108708493	108708493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:108708493G>A	ENST00000218006.2	-	3	1201	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	304					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTCCCGGAGCTTTGGGTTG	0.483000													55	40					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7345999	7345999	+	Silent	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7345999T>C	ENST00000575331.1	+	3	2267	c.123T>C	c.(121-123)cgT>cgC	p.R41R	FGF11_ENST00000575082.1_Silent_p.R41R|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575398.1_Silent_p.R41R|FGF11_ENST00000572907.1_Silent_p.R41R|FGF11_ENST00000293829.4_Silent_p.R165R|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Silent_p.R41R			Q92914	FGF11_HUMAN	fibroblast growth factor 11	165					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCGCCAGCGTCGTTCTGGCC	0.557000													182	122					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507874	195507874	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:195507874G>T	ENST00000463781.3	-	2	11036	c.10577C>A	c.(10576-10578)aCt>aAt	p.T3526N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	323					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.602000													3	14					0.184627	0.184627	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106093	168106093	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:168106093A>C	ENST00000409195.1	+	9	8280	c.8191A>C	c.(8191-8193)Agt>Cgt	p.S2731R	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2509R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2731R|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2556					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCTATGAAAGTCATAAACA	0.348000													8	83					0	0	1	0	0
RSPO1	284654	broad.mit.edu	37	1	38079439	38079439	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:38079439C>A	ENST00000356545.2	-	7	1349	c.562G>T	c.(562-564)Gct>Tct	p.A188S	RSPO1_ENST00000401068.1_Missense_Mutation_p.A188S|RSPO1_ENST00000401069.1_Missense_Mutation_p.A188S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.A161S	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	188	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCAGGCAGCATGGTCCCCC	0.667000													17	61					1.15088e-07	1.25023e-07	1	1	0
TMEM252	169693	broad.mit.edu	37	9	71152264	71152264	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:71152264C>T	ENST00000377311.3	-	2	476	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_153237.1	NP_694969.1			transmembrane protein 252																		GGTGGGGCCTCTGGGTGGGAG	0.567000													26	52					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497036	18497036	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:18497036C>G	ENST00000595973.1	+	2	588	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	GDF15_ENST00000252809.3_Missense_Mutation_p.Q13E			Q99988	GDF15_HUMAN	growth differentiation factor 15	13					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GAATGGCTCTCAGATGCTCCT	0.642000													18	51					0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85961378	85961378	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:85961378G>A	ENST00000263360.6	+	2	841	c.155G>A	c.(154-156)cGc>cAc	p.R52H	EED_ENST00000351625.6_Missense_Mutation_p.R52H|EED_ENST00000528180.1_Missense_Mutation_p.R52H|EED_ENST00000327320.4_Missense_Mutation_p.R52H	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	52					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AACACTGAACGCCCTGATACA	0.378000													23	71					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365178	120365178	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:120365178C>A	ENST00000283871.5	-	9	1044	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	195					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGCCCCTGGTCTCCTCAAAGA	0.473000													23	78					7.87624e-14	9.14856e-14	1	1	0
PTHLH	5744	broad.mit.edu	37	12	28122338	28122338	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:28122338G>A	ENST00000535992.1	-	2	436	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PTHLH_ENST00000545234.1_Silent_p.L30L|PTHLH_ENST00000354417.3_Silent_p.L30L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.L30L|PTHLH_ENST00000201015.4_Silent_p.L30L|PTHLH_ENST00000395868.3_Silent_p.L30L|PTHLH_ENST00000538310.1_Silent_p.L30L|PTHLH_ENST00000539239.1_Silent_p.L30L			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	30					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGCGGCGGCTGAGACCCTCCA	0.711000													5	12					0	0	1	0	0
ETV2	2116	broad.mit.edu	37	19	36135623	36135623	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:36135623C>T	ENST00000379026.2	+	6	1421	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	ETV2_ENST00000379023.4_Missense_Mutation_p.R113C|ETV2_ENST00000479824.1_Missense_Mutation_p.R207C|ETV2_ENST00000403402.1_Missense_Mutation_p.R300C|ETV2_ENST00000402764.2_Missense_Mutation_p.R300C			B9EIN1	B9EIN1_HUMAN	ets variant 2	300							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGGCCTTCGCTACTACTA	0.662000													15	36					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589766	140589766	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140589766C>A	ENST00000239450.2	+	1	1476	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P	PCDHB12_ENST00000541609.1_Silent_p.P92P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGACCCCCAGGCTAAAAA	0.547000													98	67					2.1089e-46	2.72175e-46	1	1	0
CHKB	1120	broad.mit.edu	37	22	51018459	51018459	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:51018459C>T	ENST00000406938.2	-	8	1088	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	291					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGCCATTCCTCGTGAGTATAA	0.527000													21	77					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7569253	7569253	+	Silent	SNP	G	G	A	rs146786010	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:7569253G>A	ENST00000361664.2	+	4	879	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	246										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAACGTGTTCGGAGCAGAAAC	0.597000													41	107					0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118713579	118713579	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:118713579G>A	ENST00000355371.4	-	5	907	c.410C>T	c.(409-411)tCa>tTa	p.S137L	KIAA1598_ENST00000392901.4_Missense_Mutation_p.S77L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S137L|KIAA1598_ENST00000260777.10_Missense_Mutation_p.S137L|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	137					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ACACTGTACTGAGACACAAGT	0.418000													12	42					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714267	35714267	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:35714267G>A	ENST00000314888.9	-	24	3442	c.3089C>T	c.(3088-3090)gCg>gTg	p.A1030V	TLN1_ENST00000540444.1_Missense_Mutation_p.A1030V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1030					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCAGCCAGCGCGGTGCCCAG	0.577000													32	65					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176541	57176541	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:57176541A>T	ENST00000537055.2	-	2	257	c.26T>A	c.(25-27)cTc>cAc	p.L9H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCCCTGGAGGGCGACGCT	0.532000													8	54					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220391	56220391	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:56220391C>G	ENST00000332836.2	-	9	2890	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	955						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTCTTCATCAAAGCCAGAT	0.383000													8	22					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571477	71571477	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:71571477G>T	ENST00000338482.5	+	3	1240	c.897G>T	c.(895-897)ttG>ttT	p.L299F	CHST4_ENST00000539698.3_Missense_Mutation_p.L299F|CHST4_ENST00000572450.1_Missense_Mutation_p.L299F|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	299					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGAATTCTTGCCCCATCTTC	0.567000											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	60					1.58986e-06	1.67881e-06	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96546844	96546844	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:96546844C>A	ENST00000376747.3	-	24	2897	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	943					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATGTGACATCATATCGAGAT	0.343000													19	65					7.45023e-12	8.45853e-12	1	1	0
TRMU	55687	broad.mit.edu	37	22	46749736	46749736	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:46749736A>G	ENST00000290846.4	+	8	1185	c.845A>G	c.(844-846)aAg>aGg	p.K282R	TRMU_ENST00000381019.3_Missense_Mutation_p.K282R	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GTGGTGGAGAAGGACAGCGTC	0.587000													32	85					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223748	134223748	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223748C>T	ENST00000358387.4	+	2	1092	c.467C>T	c.(466-468)tCt>tTt	p.S156F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.S133F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	156	Thioredoxin.				cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCGGAATCTGACGCAGCC	0.493000													17	28					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46758449	46758449	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:46758449C>A	ENST00000256689.5	-	9	1127	c.683G>T	c.(682-684)tGt>tTt	p.C228F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Missense_Mutation_p.C66F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	228					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GAACACCATACACAACAAGGA	0.333000													30	65					6.00712e-18	7.2566e-18	1	1	0
PCDH9	5101	broad.mit.edu	37	13	66879158	66879158	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:66879158C>A	ENST00000544246.1	-	5	4034	c.3343G>T	c.(3343-3345)Ggg>Tgg	p.G1115W	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1081W|PCDH9_ENST00000377865.2_Missense_Mutation_p.G1115W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1081W	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1115					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCAAAGGCCCATCTGCAGAA	0.393000													12	29					7.93312e-07	8.43592e-07	1	1	0
NRIP2	83714	broad.mit.edu	37	12	2944011	2944011	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:2944011G>T	ENST00000337508.4	-	1	179	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	47					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCCCTGCTGGAGGAGTGGGC	0.652000													63	119					2.3441e-25	2.97445e-25	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416213	105416213	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105416213G>T	ENST00000333244.5	-	7	5694	c.5575C>A	c.(5575-5577)Ctc>Atc	p.L1859I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1859						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGAGGGGAGGCTCACTTCG	0.637000													128	324					1.19196e-58	1.5516e-58	1	1	0
USH2A	7399	broad.mit.edu	37	1	216420132	216420132	+	Silent	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:216420132A>G	ENST00000366943.2	-	13	2990	c.2604T>C	c.(2602-2604)tgT>tgC	p.C868C	USH2A_ENST00000307340.3_Silent_p.C868C|USH2A_ENST00000366942.3_Silent_p.C868C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	868	Laminin EGF-like 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTGCAAGGACATTGTCCTG	0.428000										HNSCC(13;0.011)			10	201					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144644483	144644483	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144644483C>T	ENST00000526406.1	+	12	1984	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	GSDMD_ENST00000533063.1_Silent_p.L415L|GSDMD_ENST00000262580.4_Silent_p.L367L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	367				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGCCGGAACTCGCTATCCCTG	0.692000													5	8					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185833633	185833633	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:185833633G>T	ENST00000271588.4	+	3	600	c.371G>T	c.(370-372)gGa>gTa	p.G124V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G124V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	124	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAGTATTGGAGCTATAAAA	0.393000													12	43					0.00185496	0.00190543	1	1	0
CEP152	22995	broad.mit.edu	37	15	49052444	49052444	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:49052444T>C	ENST00000380950.2	-	19	2769	c.2582A>G	c.(2581-2583)aAt>aGt	p.N861S	CEP152_ENST00000325747.5_Missense_Mutation_p.N768S|CEP152_ENST00000399334.3_Missense_Mutation_p.N861S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	861					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGATGAGCATTTTGCACAGC	0.403000													30	64					0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64066993	64066993	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64066993C>A	ENST00000539216.1	+	6	1337	c.977C>A	c.(976-978)gCt>gAt	p.A326D	KCNK4_ENST00000422670.2_Missense_Mutation_p.A326D|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Silent_p.G210G|KCNK4_ENST00000394525.2_Missense_Mutation_p.A326D			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	326						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCCGAGAAGGCTCAGCCGCCT	0.726000													21	74					2.37509e-13	2.71696e-13	1	1	0
GPR156	165829	broad.mit.edu	37	3	119886626	119886626	+	Silent	SNP	G	G	A	rs140788830	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:119886626G>A	ENST00000464295.1	-	10	2143	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	GPR156_ENST00000315843.3_Silent_p.T566T|GPR156_ENST00000461057.1_Silent_p.T562T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	566						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAGAGGGGGCGGTGGAGAGGG	0.577000													47	156					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48278778	48278778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:48278778C>A	ENST00000225964.5	-	1	215	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	33					axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACTGTCTTCGTCTTGGCCC	0.587000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						8	20					5.18039e-06	5.43222e-06	1	1	0
FLG	2312	broad.mit.edu	37	1	152280521	152280521	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:152280521G>T	ENST00000368799.1	-	3	6876	c.6841C>A	c.(6841-6843)Cac>Aac	p.H2281N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2281	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGGGGTGTCTGGAGCCA	0.552000									Ichthyosis				15	445					3.27435e-08	3.63549e-08	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76903103	76903103	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903103C>T	ENST00000409709.3	+	31	4204	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	MYO7A_ENST00000458637.2_Missense_Mutation_p.S1311F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1300F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1311	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGGTGTCCTCCCTGGGCAGC	0.652000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	29					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825355	196825355	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:196825355G>T	ENST00000312428.6	-	18	2620	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	840	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						TCACTTGAATGAGAGGAATGT	0.438000													43	99					8.20599e-20	1.0074e-19	1	1	0
CLMN	79789	broad.mit.edu	37	14	95670794	95670794	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:95670794T>C	ENST00000298912.4	-	9	1005	c.892A>G	c.(892-894)Att>Gtt	p.I298V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	298						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAATCGAAAATATCTTCCTGC	0.318000													9	33					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56974109	56974109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:56974109C>T	ENST00000439977.2	+	6	1054	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.S285F|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S261F|HERPUD1_ENST00000570273.1_Intron	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	286						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTACTCCTCCCTGAGCAGA	0.403000			T	ERG	prostate								35	72					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	by1000genomes	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA														p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478000													4	152					0	0	1	0	0
ABHD17C	58489	broad.mit.edu	37	15	81046671	81046671	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:81046671G>T	ENST00000258884.4	+	3	1077	c.950G>T	c.(949-951)aGa>aTa	p.R317I	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.R82I|ABHD17C_ENST00000558464.1_Missense_Mutation_p.R283I	NM_021214.1	NP_067037.1			abhydrolase domain containing 17C																		TACCTAGAAAGACTAAAACAG	0.463000													7	34					0.0477658	0.0484069	1	1	0
LILRB1	10859	broad.mit.edu	37	19	55143173	55143173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:55143173G>A	ENST00000396331.1	+	5	650	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	LILRB1_ENST00000396315.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396332.4_Missense_Mutation_p.C98Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.C98Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.C98Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.C134Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.C98Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	98	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGGTATCGCTGTTACTATGGT	0.587000										HNSCC(37;0.09)			36	86					0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673260	94673260	+	Missense_Mutation	SNP	G	G	A	rs139894368		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:94673260G>A	ENST00000258526.4	+	22	3859	c.3610G>A	c.(3610-3612)Gtc>Atc	p.V1204I	PLXNC1_ENST00000547057.1_Missense_Mutation_p.V251I|PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1204					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.V1204I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTAAACGTCGTCTTTGAAAA	0.403000													16	32					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102353044	102353044	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:102353044G>C	ENST00000438793.3	+	21	2808	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PAM_ENST00000346918.2_Missense_Mutation_p.D780H|PAM_ENST00000455264.2_Missense_Mutation_p.D780H|PAM_ENST00000304400.7_Missense_Mutation_p.D780H|PAM_ENST00000348126.2_Missense_Mutation_p.D673H|PAM_ENST00000274392.9_Missense_Mutation_p.D683H|PAM_ENST00000379787.4_Missense_Mutation_p.D160H	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	780	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCAGCACTTTGATATGCCTCA	0.413000													41	83					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19670881	19670881	+	Silent	SNP	T	T	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19670881T>A	ENST00000401084.2	-	8	835	c.702A>T	c.(700-702)ggA>ggT	p.G234G	CAPZB_ENST00000375142.1_Silent_p.G234G|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000375144.1_Silent_p.G222G|CAPZB_ENST00000433834.1_Silent_p.G263G|CAPZB_ENST00000264202.6_Silent_p.G234G	NM_004930.3	NP_004921.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	234					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CCTTTGTTTTTCCAAAGTAGA	0.483000											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	56					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903206	76903206	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903206C>A	ENST00000409709.3	+	31	4307	c.4035C>A	c.(4033-4035)ttC>ttA	p.F1345L	MYO7A_ENST00000458637.2_Missense_Mutation_p.F1345L|MYO7A_ENST00000409619.2_Missense_Mutation_p.F1334L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1345	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGCTCTTCTTCCGCAAAG	0.647000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	132					3.65163e-15	4.3417e-15	1	1	0
MDN1	23195	broad.mit.edu	37	6	90421860	90421860	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:90421860A>C	ENST00000369393.3	-	49	7661	c.7546T>G	c.(7546-7548)Ttg>Gtg	p.L2516V	MDN1_ENST00000428876.1_Missense_Mutation_p.L2516V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCATGACCAAAACATCTGGT	0.418000													50	126					0	0	1	0	0
KLRF1	51348	broad.mit.edu	37	12	9994936	9994936	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:9994936A>G	ENST00000279544.3	+	5	558	c.494A>G	c.(493-495)aAc>aGc	p.N165S	KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.N115S	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	165	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ATACAGAAAAACCTAAGACAA	0.333000													20	52					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997280	40997280	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:40997280C>T	ENST00000253799.3	+	1	664	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	213					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGGGCTTGCGCTCAGGGGA	0.592000													4	139					0	0	1	0	0
TXNDC15	79770	broad.mit.edu	37	5	134223674	134223674	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223674C>A	ENST00000358387.4	+	2	1018	c.393C>A	c.(391-393)ttC>ttA	p.F131L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.F108L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	131					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGCCTTTTCTCTCTGGATG	0.582000													16	37					1.02788e-11	1.15829e-11	1	1	0
FBXL7	23194	broad.mit.edu	37	5	15928350	15928350	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:15928350C>T	ENST00000504595.1	+	3	960	c.479C>T	c.(478-480)aCg>aTg	p.T160M	FBXL7_ENST00000510662.1_Missense_Mutation_p.T113M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T148M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	160					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T160M(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATCCGCCTGACGGGCGAGACC	0.657000													7	18					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943115	144943115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943115G>C	ENST00000525985.1	-	2	4378	c.4307C>G	c.(4306-4308)tCa>tGa	p.S1436*				P58107	EPIPL_HUMAN	epiplakin 1	1436						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACTGTGTCTGAGGGCAGTGG	0.622000													20	64					0	0	1	0	0
FBXO8	26269	broad.mit.edu	37	4	175158592	175158592	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:175158592T>C	ENST00000393674.2	-	6	1793	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	FBXO8_ENST00000503293.1_Missense_Mutation_p.I270V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	311					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATAAGGTAGATATTGTCATAA	0.383000													24	61					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80158594	80158594	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:80158594T>C	ENST00000428277.2	+	4	1066	c.680T>C	c.(679-681)cTg>cCg	p.L227P	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000557594.1_Intron	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	200	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGTGGCTGCAGGAAAAA	0.333000													4	24					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183905522	183905522	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:183905522A>G	ENST00000429586.2	+	5	604	c.419A>G	c.(418-420)aAg>aGg	p.K140R	ABCF3_ENST00000292808.5_Missense_Mutation_p.K134R|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	140							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCAGAGAAGGACACGCTC	0.532000													72	94					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191362215	191362216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:191362215_191362216insT	ENST00000392328.1	+	7	2266_2267	c.1942_1943insT	c.(1942-1944)agcfs	p.S648fs	MFSD6_ENST00000535751.1_Frame_Shift_Ins_p.S110fs|MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.S648fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	648					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCCCGTTCCTATAGCAACCATC	0.426													47	157	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220506439	220506440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:220506439_220506440insT	ENST00000358055.3	+	23	4200_4201	c.3688_3689insT	c.(3688-3690)gccfs	p.A1230fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A1230fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A1257fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A1257fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A1230fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1230	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCTGCACATGCCAGTGTGA	0.594													17	28	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1																						AGAAGGCTACCTCCTGTAAGAA	0.356													2	4	---	---	---	---					
SNORA26	677810	broad.mit.edu	37	9	89875500	89875500	+	RNA	DEL	A	A	-	rs142686931		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:89875500delA	ENST00000391119.1	+	0	136																											GAGCCACAGCaaaaaaaaaaa	0.363													3	4	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5623-5628)caccccfs	p.HP1875fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1875	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569													8	158	---	---	---	---					
WDR59	79726	broad.mit.edu	37	16	74927630	74927631	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:74927630_74927631insA	ENST00000262144.6	-	19	2076_2077	c.1946_1947insT	c.(1945-1947)acafs	p.T649fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	649										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAATATCCTGGATGATGACTTT	0.465													29	68	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578406	7578414	+	In_Frame_Del	DEL	CGCCTCACA	CGCCTCACA	-	rs138729528		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7578406_7578414delCGCCTCACA	ENST00000420246.2	-	5	648_656	c.516_524delTGTGAGGCG	c.(514-525)gtc>gt	p.VVRR172del	TP53_ENST00000269305.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000455263.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000359597.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000445888.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.VVRR172del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	172	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.V173L(68)|p.V173M(46)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.R175L(19)|p.R175C(19)|p.V173A(12)|p.R174W(12)|p.V173V(8)|p.0?(8)|p.R175P(6)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.R175S(5)|p.V173fs*1(4)|p.R174fs*73(4)|p.V172V(4)|p.R174K(4)|p.R174fs*24(3)|p.R43G(3)|p.V173fs*7(3)|p.V80M(3)|p.R82G(3)|p.V41M(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.R175fs*5(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.V80fs*7(1)|p.R175_H178>X(1)|p.V173W(1)|p.R175fs*6(1)|p.V173fs*8(1)|p.R42fs*24(1)|p.R81W(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R174G(1)|p.R42W(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.E171_V172delEV(1)|p.V41fs*7(1)|p.R174fs*3(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAACCTCCGTCA	0.651	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			25	43	---	---	---	---					
RAB37	326624	broad.mit.edu	37	17	72741214	72741217	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:72741214_72741217delCCAT	ENST00000340415.3	+	8	1545_1548	c.536_539delCCAT	c.(535-540)gcfs	p.AI179fs	RAB37_ENST00000392614.4_Frame_Shift_Del_p.AI191fs|RAB37_ENST00000392612.3_Frame_Shift_Del_p.AI149fs|RAB37_ENST00000392610.1_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000402449.4_Frame_Shift_Del_p.AI179fs|RAB37_ENST00000392613.5_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000528438.1_Frame_Shift_Del_p.AI159fs|RAB37_ENST00000392615.5_Frame_Shift_Del_p.AI154fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	186					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GCCTTTCTGGCCATCGCCAAGTGA	0.647											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	48	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21512157	21512157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr18:21512157delA	ENST00000313654.9	+	66	8851	c.8610delA	c.(8608-8610)agfs	p.R2870fs	LAMA3_ENST00000399516.3_Frame_Shift_Del_p.R2814fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.R1205fs|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.R1261fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2870	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTTCTGAGAAATAGCAAAA	0.473													54	107	---	---	---	---