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
PCSK5	5125	broad.mit.edu	37	9	78790173	78790173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:78790173G>A	ENST00000376767.3	+	14	2540	c.2028G>A	c.(2026-2028)tgG>tgA	p.W676*	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatggaatggaatgg	0.373000													3	3					0	0	1	0	0
IL22RA1	58985	broad.mit.edu	37	1	24463651	24463651	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:24463651T>A	ENST00000270800.1	-	3	363	c.325A>T	c.(325-327)Atg>Ttg	p.M109L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	109	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTGTCAGTCATCTTGGTGGCT	0.622000													6	35					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1459088	1459088	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:1459088T>G	ENST00000359801.3	-	3	652	c.616A>C	c.(616-618)Aac>Cac	p.N206H	SIRPB2_ENST00000537284.1_Missense_Mutation_p.N68H|SIRPB2_ENST00000381630.1_Missense_Mutation_p.N108H|SIRPB2_ENST00000444444.1_Missense_Mutation_p.N108H	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	206	Ig-like V-type 2.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCTCCAAAGTTGTAAATGGCC	0.567000													3	41					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40135934	40135934	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:40135934C>G	ENST00000278198.2	-	2	3872	c.1909G>C	c.(1909-1911)Gag>Cag	p.E637Q	LRRC4C_ENST00000527150.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000530763.1_Missense_Mutation_p.E637Q|LRRC4C_ENST00000528697.1_Missense_Mutation_p.E637Q			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	637					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGAGTCTCTTGTACATTG	0.318000													6	47					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98658459	98658459	+	Missense_Mutation	SNP	G	G	A	rs632729		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:98658459G>A	ENST00000261574.5	+	17	1807	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.E525K|IPO5_ENST00000539640.1_Missense_Mutation_p.E400K	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	525					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TACTGCAGAAGAAAAATTTGT	0.383000													11	89					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10297616	10297616	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:10297616C>T	ENST00000403437.2	-	35	5210	c.5116G>A	c.(5116-5118)Gaa>Aaa	p.E1706K	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1706					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGCTCCTGTTCGGCGATTTTC	0.562000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	55					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13792168	13792168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:13792168G>A	ENST00000265104.4	-	50	8487	c.8383C>T	c.(8383-8385)Cga>Tga	p.R2795*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2795	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAAGATCTCGTAGGTTAAAC	0.418000									Kartagener syndrome				4	47					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	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.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	56					0	0	1	0	0
CRLF3	51379	broad.mit.edu	37	17	29119578	29119578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:29119578C>T	ENST00000324238.6	-	6	963	c.839G>A	c.(838-840)gGt>gAt	p.G280D	CRLF3_ENST00000544695.1_Missense_Mutation_p.G164D|CTD-2349P21.9_ENST00000580085.1_lincRNA|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	280					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CCCCTCAAAACCAGCTGTCCA	0.403000													14	78					0	0	1	0	0
FAM183A	440585	broad.mit.edu	37	1	43621899	43621899	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:43621899G>A	ENST00000410048.1	+	4	332	c.236G>A	c.(235-237)cGc>cAc	p.R79H	FAM183A_ENST00000335282.4_Missense_Mutation_p.R107H|FAM183A_ENST00000409337.1_3'UTR			A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	107										kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						CGCCATGACCGCAGGCTGAAT	0.527000													4	104					0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17896185	17896185	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:17896185A>G	ENST00000313838.8	+	7	930	c.551A>G	c.(550-552)gAc>gGc	p.D184G	LRRC48_ENST00000399187.1_Missense_Mutation_p.D184G|LRRC48_ENST00000411504.2_Missense_Mutation_p.D184G|LRRC48_ENST00000584166.1_Missense_Mutation_p.D184G|LRRC48_ENST00000399182.1_Missense_Mutation_p.D184G	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	184	LRRCT.					cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TACCTTCCTGACCTCATGTAC	0.557000													3	31					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606524	21606524	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:21606524T>G	ENST00000392288.2	+	4	1172	c.1063T>G	c.(1063-1065)Tgc>Ggc	p.C355G	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.C227G	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGAAGAATATTGCAAAGCTTA	0.358000													7	45					0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10226178	10226178	+	Silent	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:10226178G>C	ENST00000253108.4	-	10	966	c.924C>G	c.(922-924)ctC>ctG	p.L308L		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	308	RRM.					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CGTTGAGGATGAGGTGGTCGT	0.632000													11	49					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164757710	164757710	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:164757710C>T	ENST00000264382.3	-	19	2271	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	737	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AATGCAGGGCCCCACAAAAAC	0.333000										HNSCC(35;0.089)			10	98					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402871	133402871	+	Silent	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:133402871C>A	ENST00000329321.3	+	2	1523	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	352						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCAGCAGTTTCGGCGGGTGTT	0.632000													16	46					2.35188e-11	2.6108e-11	1	1	0
WDR59	79726	broad.mit.edu	37	16	75018899	75018899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:75018899C>T	ENST00000262144.6	-	1	147	c.17G>A	c.(16-18)aGc>aAc	p.S6N	WDR59_ENST00000562331.1_Intron	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	6										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GTTTTCGCTGCTCCATCGCGC	0.726000													3	8					0	0	1	0	0
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343000													11	42					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	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	57					0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26422206	26422206	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:26422206G>A	ENST00000342320.4	+	5	528	c.352G>A	c.(352-354)Gac>Aac	p.D118N	RBPJ_ENST00000504907.1_Missense_Mutation_p.D118N|RBPJ_ENST00000348160.4_Missense_Mutation_p.D119N|RBPJ_ENST00000507561.1_Missense_Mutation_p.D97N|RBPJ_ENST00000342295.1_Missense_Mutation_p.D132N|RBPJ_ENST00000361572.6_Missense_Mutation_p.D132N|RBPJ_ENST00000355476.3_Missense_Mutation_p.D118N|RBPJ_ENST00000345843.3_Missense_Mutation_p.D117N			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	132					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTATATATCTGACTCAGACAA	0.373000													4	32					0	0	1	0	0
TADA1	117143	broad.mit.edu	37	1	166833074	166833074	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:166833074C>G	ENST00000367874.4	-	4	410	c.317G>C	c.(316-318)cGt>cCt	p.R106P		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	106					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						AAATTTCTGACGAACAGAAGA	0.393000													8	41					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36587780	36587780	+	Nonstop_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:36587780G>T	ENST00000273183.3	+	11	1508	c.1208G>T	c.(1207-1209)tGa>tTa	p.*403L	STAC_ENST00000457375.2_Nonstop_Mutation_p.*342L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	0					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAAAACATCTGATTGCTGGCT	0.507000													9	38					1.12685e-05	1.19604e-05	1	1	0
UIMC1	51720	broad.mit.edu	37	5	176334156	176334156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:176334156C>T	ENST00000377219.2	-	13	2040	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	UIMC1_ENST00000506128.1_Missense_Mutation_p.R458Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R624Q|UIMC1_ENST00000377227.4_Missense_Mutation_p.R624Q	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	624					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.R624L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTAAGGAGTCGGCCTTCACT	0.468000													3	19					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32379522	32379522	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:32379522C>T	ENST00000315285.3	+	17	1933	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	SPAST_ENST00000345662.1_Missense_Mutation_p.A571V	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	603	Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTTTAGAAGCGTACATACGT	0.348000													3	49					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510556	55510556	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:55510556C>T	ENST00000395472.2	+	2	1129	c.797C>T	c.(796-798)aCg>aTg	p.T266M	SOCS4_ENST00000339298.2_Missense_Mutation_p.T266M|SOCS4_ENST00000555846.1_Missense_Mutation_p.T266M	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	266					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AAATACCACACGCAGATTGAT	0.418000													16	60					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624329	53624329	+	Missense_Mutation	SNP	G	G	C	rs144683972		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:53624329G>C	ENST00000219022.2	+	5	1034	c.956G>C	c.(955-957)cGa>cCa	p.R319P		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	319	Olfactomedin-like.				cell adhesion	extracellular space		p.R319Q(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATAAATGCTCGAGAGTTGCGG	0.433000													25	78					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001737	177001737	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:177001737G>A	ENST00000367654.2	-	3	733	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ASTN1_ENST00000361833.2_Silent_p.D240D|ASTN1_ENST00000424564.2_Silent_p.D240D|ASTN1_ENST00000367657.3_Silent_p.D240D|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	240					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACTCATAGCCGTCCAGGATAG	0.632000													16	54					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204198208	204198208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:204198208C>T	ENST00000272203.3	-	19	2924	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E890K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	870										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ATGTCTACCTCATGGATGCTG	0.632000													8	37					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136680	96136680	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:96136680G>C	ENST00000324765.8	+	5	897	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q	DIAPH2_ENST00000373061.3_Missense_Mutation_p.E184Q|DIAPH2_ENST00000355827.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373049.4_Missense_Mutation_p.E184Q|DIAPH2_ENST00000373054.4_Missense_Mutation_p.E180Q			O60879	DIAP2_HUMAN	diaphanous-related formin 2	184	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TAATTGCCTAGAATCCCTCAG	0.383000													10	12					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27657240	27657240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27657240G>A	ENST00000374076.4	+	2	262	c.224G>A	c.(223-225)gGc>gAc	p.G75D		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	75						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GGCCACATGGGCATCTGCACA	0.577000													25	106					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	153001569	153001569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:153001569C>T	ENST00000218104.3	+	3	1484	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	362	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTGCAGATGCAGAGGCCGTG	0.622000													12	23					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108860946	108860946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:108860946C>G	ENST00000356922.4	-	2	2943	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	LIG4_ENST00000442234.1_Missense_Mutation_p.E891Q|LIG4_ENST00000405925.1_Missense_Mutation_p.E891Q	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	891	BRCT 2.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ACCCAACTTTCTTTTAGGATT	0.343000								Non-homologous end-joining					16	29					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126224668	126224668	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:126224668G>A	ENST00000290868.2	-	8	742	c.689C>T	c.(688-690)gCa>gTa	p.A230V	UROC1_ENST00000383579.3_Missense_Mutation_p.A230V	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	230					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GTACCGACGTGCAGCATTCAA	0.657000													4	31					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744164	140744164	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:140744164G>A	ENST00000518069.1	+	1	267	c.267G>A	c.(265-267)agG>agA	p.R89R	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGGGCAGGATAGACCGGG	0.557000													15	64					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145040931	145040931	+	Missense_Mutation	SNP	G	G	A	rs144802902	byFrequency	TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:145040931G>A	ENST00000360771.4	-	3	255	c.140C>T	c.(139-141)aCg>aTg	p.T47M	GYPA_ENST00000324022.10_Missense_Mutation_p.T14M|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000504786.1_Intron|GYPA_ENST00000512789.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000535709.1_Missense_Mutation_p.T21M|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512064.1_Missense_Mutation_p.T47M	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	47			T -> K (in ENEH/Hut antigen).|T -> M (in ENEH/Vw antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					CCGTTTGTGCGTATCTGCATA	0.453000													4	38					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799059	16799059	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:16799059C>T	ENST00000187762.2	+	6	868	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	259						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ACCATCACCACGACAACCATG	0.632000													32	131					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684366	100684366	+	Silent	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100684366A>G	ENST00000306151.4	+	3	9733	c.9669A>G	c.(9667-9669)ccA>ccG	p.P3223P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3223	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATGACTCCATTAACTAGTG	0.488000													56	281					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852908	2852908	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:2852908A>G	ENST00000334241.4	+	4	983	c.845A>G	c.(844-846)aAg>aGg	p.K282R	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.K281R	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGGCGAGAAGCCATATAAA	0.403000													7	52					0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5958338	5958338	+	Silent	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:5958338A>G	ENST00000379999.5	+	11	1964	c.1860A>G	c.(1858-1860)gaA>gaG	p.E620E	FBXO18_ENST00000362091.4_Silent_p.E569E|FBXO18_ENST00000379994.1_Silent_p.E306E|FBXO18_ENST00000397269.3_Silent_p.E56E	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	569					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGCTGACGAAGAGCTGACCA	0.478000													6	98					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538034	38538034	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr21:38538034A>G	ENST00000399017.2	+	33	6265	c.3518A>G	c.(3517-3519)aAg>aGg	p.K1173R	TTC3_ENST00000354749.2_Missense_Mutation_p.K1173R|TTC3_ENST00000355666.1_Missense_Mutation_p.K1173R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1173	Arg/Lys-rich (basic).				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GCACTGAAGAAGGTTGCATCA	0.368000													18	126					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27908805	27908805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:27908805C>A	ENST00000225394.3	-	6	921	c.673G>T	c.(673-675)Gag>Tag	p.E225*	GIT1_ENST00000579937.1_Nonsense_Mutation_p.E225*|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000581348.1_Nonsense_Mutation_p.E225*|GIT1_ENST00000394869.3_Nonsense_Mutation_p.E225*	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	225					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TCAGTGAGCTCATATTGGCAC	0.662000													6	26					0.0293803	0.0301273	1	1	0
PRPH2	5961	broad.mit.edu	37	6	42666177	42666177	+	Silent	SNP	A	A	G	rs61748429		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:42666177A>G	ENST00000230381.5	-	3	1136	c.897T>C	c.(895-897)tcT>tcC	p.S299S		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	299					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCGCTCTCAGATTCCTCGG	0.592000													18	48					0	0	1	0	0
CHPF2	54480	broad.mit.edu	37	7	150933597	150933597	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:150933597G>T	ENST00000035307.2	+	3	2445	c.932G>T	c.(931-933)gGt>gTt	p.G311V	CHPF2_ENST00000495645.1_Missense_Mutation_p.G303V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	311						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTCTCCGAAGGTACCCTCATG	0.552000													5	13					0.014758	0.0152625	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848805	166848805	+	Silent	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:166848805G>C	ENST00000423058.2	-	26	4997	c.4980C>G	c.(4978-4980)ctC>ctG	p.L1660L	SCN1A_ENST00000409050.1_Silent_p.L1632L|SCN1A_ENST00000375405.3_Silent_p.L1649L|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.L1660L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1660						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCAAAGCAAAGAGCAGCGTGC	0.502000													21	82					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393464	38393464	+	RNA	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:38393464T>A	ENST00000390345.2	-	0	539																											GGTGTAGGAGTCATAGTACAG	0.488000													15	73					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74208539	74208539	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:74208539A>G	ENST00000269391.6	-	2	245	c.113T>C	c.(112-114)aTt>aCt	p.I38T	RNF157_ENST00000592271.1_Missense_Mutation_p.I38T|RNF157_ENST00000319945.6_Missense_Mutation_p.I38T	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	38							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCCTCCCATAATGAAGTGGCT	0.398000													9	36					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73818688	73818688	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:73818688A>T	ENST00000293218.3	+	15	2196	c.2196A>T	c.(2194-2196)gaA>gaT	p.E732D	UNK_ENST00000589666.1_Missense_Mutation_p.E656D			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	656							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTGGATGAAGCCAACAGCA	0.642000													12	44					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921201	247921201	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:247921201C>T	ENST00000408896.2	-	1	781	c.508G>A	c.(508-510)Gcc>Acc	p.A170T		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATATTGGAGGCACAGAAGGAC	0.483000													7	25					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446166	49446166	+	Splice_Site	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr10:49446166G>A	ENST00000374201.3	-	8	1091	c.788_splice	c.e8-1	p.R263_splice	FRMPD2_ENST00000407470.4_Splice_Site_p.R232_splice|FRMPD2_ENST00000305531.3_Splice_Site_p.R239_splice	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	263					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGAAGAGCGCTGGCCAGGG	0.622000													12	32					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48755289	48755289	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:48755289G>A	ENST00000316623.5	-	42	5669	c.5214C>T	c.(5212-5214)atC>atT	p.I1738I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1738	TB 7.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGTACTTGGGATGGGACACT	0.428000													22	80					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348329	100348329	+	RNA	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:100348329C>G	ENST00000542585.1	+	0	1479				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCTTCTGCGCCCCAGGTGAC	0.602000													5	16					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46931868	46931868	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:46931868G>T	ENST00000262738.3	-	1	1199	c.1200C>A	c.(1198-1200)ttC>ttA	p.F400L	CELSR1_ENST00000395964.1_Missense_Mutation_p.F400L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	400	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTTGAGCTGGAAGACGTCCC	0.687000													3	26					2.56e-06	2.76571e-06	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53619411	53619411	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chrX:53619411C>G	ENST00000342160.3	-	32	4376	c.3919G>C	c.(3919-3921)Gag>Cag	p.E1307Q	HUWE1_ENST00000218328.8_Missense_Mutation_p.E1307Q|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1307Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1307					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCACCTTCCTCTTGCCCTGTA	0.562000													11	47					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82644572	82644572	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:82644572C>T	ENST00000533655.1	+	6	2404	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L	C11orf82_ENST00000430323.2_Missense_Mutation_p.S731L|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.S430L	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	731					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATCCAGCCTTCACAAAAATTA	0.368000													14	53					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85597629	85597629	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:85597629T>C	ENST00000376447.3	-	17	2446	c.2186A>G	c.(2185-2187)aAa>aGa	p.K729R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	729					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TGGTGACTTTTTGGAATTGGT	0.408000													26	116					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373777	17373777	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:17373777C>T	ENST00000252597.3	-	4	399	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	USHBP1_ENST00000431146.2_Missense_Mutation_p.G12S|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	76							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCAGAGCCCCCATCCATC	0.547000													18	64					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5838521	5838521	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5838521G>A	ENST00000324989.7	-	10	1511	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	CRMP1_ENST00000512574.1_Missense_Mutation_p.R359W|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Missense_Mutation_p.R361W	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	361					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		ACCGTCATCCGCTCCTCTATC	0.577000													21	60					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216498645	216498645	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216498645A>G	ENST00000366943.2	-	6	1530		c.e6+1		USH2A_ENST00000307340.3_Splice_Site|USH2A_ENST00000366942.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						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)		GTTTCTCATTACCTGATACTG	0.343000										HNSCC(13;0.011)			12	44					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31692670	31692670	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:31692670G>A	ENST00000375483.3	+	14	1735	c.1735G>A	c.(1735-1737)Gca>Aca	p.A579T	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	579						cytoplasm|extracellular region	lipid binding										ATTCATGCCCGCAATGAACGG	0.572000													6	44					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193673	77193673	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr18:77193673C>T	ENST00000253506.5	+	3	1690	c.1321C>T	c.(1321-1323)Cac>Tac	p.H441Y	NFATC1_ENST00000397790.2_5'UTR|NFATC1_ENST00000587635.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000329101.4_Missense_Mutation_p.H428Y|NFATC1_ENST00000591814.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000586434.1_Missense_Mutation_p.H428Y|NFATC1_ENST00000318065.5_Missense_Mutation_p.H428Y|NFATC1_ENST00000545796.1_5'UTR|NFATC1_ENST00000542384.1_Missense_Mutation_p.H441Y|NFATC1_ENST00000427363.2_Missense_Mutation_p.H441Y|NFATC1_ENST00000592223.1_Missense_Mutation_p.H428Y	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	441	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCACCGAGCCCACTACGAGAC	0.687000													15	49					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18389389	18389389	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:18389389C>T	ENST00000441493.2	-	2	542	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	MICAL3_ENST00000207726.7_Missense_Mutation_p.A64T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A64T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A64T|MICAL3_ENST00000414725.2_Missense_Mutation_p.A64T|MICAL3_ENST00000429452.1_Missense_Mutation_p.A64T|MICAL3_ENST00000585038.1_Missense_Mutation_p.A64T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A64T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	64						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GCCCAGAGGGCTTTGGCTTTC	0.502000													37	108					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901213	24901213	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:24901213G>A	ENST00000251343.5	+	3	885	c.746G>A	c.(745-747)aGg>aAg	p.R249K	KHNYN_ENST00000556842.1_Missense_Mutation_p.R249K|KHNYN_ENST00000553935.1_Missense_Mutation_p.R249K			O15037	KHNYN_HUMAN	KH and NYN domain containing	249										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						AGGGGAGCAAGGGGAGACACT	0.617000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139151265	139151265	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:139151265G>T	ENST00000395297.1	-	18	4035	c.3865C>A	c.(3865-3867)Cgc>Agc	p.R1289S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1289								p.R1289G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAACATTTGCGCAAATCAGCA	0.438000										HNSCC(54;0.14)			10	37					3.86212e-05	4.06362e-05	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44682334	44682334	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:44682334G>A	ENST00000454036.1	+	20	2810	c.2734G>A	c.(2734-2736)Gag>Aag	p.E912K	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E889K	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	912					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGGAGGTCGAGGTGGTGGA	0.542000													19	86					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133858144	133858144	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:133858144G>C	ENST00000395386.2	+	21	3329	c.3030G>C	c.(3028-3030)caG>caC	p.Q1010H	PHF20L1_ENST00000220847.7_Missense_Mutation_p.Q397H|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Q985H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	1010							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAGTACAGCAGATAGCAACTC	0.423000													7	32					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	12750005	12750005	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:12750005C>G	ENST00000379350.1	+	3	362	c.233C>G	c.(232-234)tCc>tGc	p.S78C	PHACTR1_ENST00000379348.2_Missense_Mutation_p.S78C|PHACTR1_ENST00000332995.7_Missense_Mutation_p.S78C			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	78						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCAGGATCTCCTTTAACCTG	0.697000													4	25					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372741	24372741	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr16:24372741T>A	ENST00000005284.3	+	4	1707	c.505T>A	c.(505-507)Tcc>Acc	p.S169T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGCGTGACTCCAAAAAAAG	0.443000													33	122					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5576499	5576499	+	Splice_Site	SNP	A	A	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:5576499A>C	ENST00000310917.2	-	19	3764	c.3032_splice	c.e19-1	p.C1011_splice	EVC2_ENST00000344408.5_Splice_Site_p.C1091_splice|EVC2_ENST00000344938.1_Splice_Site_p.C1091_splice	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1091						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCTCTCTCAAACTGGAGTGAA	0.393000													13	47					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175995	45175995	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:45175995G>A	ENST00000358777.4	+	2	663	c.183G>A	c.(181-183)caG>caA	p.Q61Q	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000480278.1_3'UTR|CEACAM19_ENST00000403660.3_Silent_p.Q61Q	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	61						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				ACACCTTCCAGGACTTCAACT	0.567000													6	58					0	0	1	0	0
DAPK3	1613	broad.mit.edu	37	19	3964800	3964800	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:3964800C>T	ENST00000545797.2	-	3	495	c.252G>A	c.(250-252)gaG>gaA	p.E84E	DAPK3_ENST00000301264.3_Silent_p.E84E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	84	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTCTTGTTCTCGAAGATGT	0.642000													10	49					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13763786	13763786	+	Translation_Start_Site	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:13763786T>A	ENST00000202816.1	-	2	108	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTGGATGACATTTTTAATTCT	0.318000													8	33					0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61580768	61580768	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:61580768G>A	ENST00000350997.7	-	2	665	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	FADS1_ENST00000542506.1_Missense_Mutation_p.L4F|FADS1_ENST00000433932.1_Missense_Mutation_p.L4F|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	88					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	CCAATCAGGAGAGAGTTCATA	0.522000													24	112					0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27883959	27883959	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:27883959G>A	ENST00000337768.5	-	3	880	c.311C>T	c.(310-312)tCg>tTg	p.S104L	SUPT7L_ENST00000405491.1_Missense_Mutation_p.S102L|SUPT7L_ENST00000404798.2_Intron|SUPT7L_ENST00000464789.2_Missense_Mutation_p.S102L|SUPT7L_ENST00000406540.1_Missense_Mutation_p.S102L	NM_014860.1	NP_055675.1	O94864	ST65G_HUMAN	suppressor of Ty 7 (S. cerevisiae)-like	104					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CCCAGGGCACGAGGGAAGAGG	0.532000													8	39					0	0	1	0	0
SHISA5	51246	broad.mit.edu	37	3	48510907	48510907	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:48510907G>A	ENST00000296444.2	-	5	832	c.496C>T	c.(496-498)Ccg>Tcg	p.P166S	SHISA5_ENST00000443308.2_Missense_Mutation_p.P159S|SHISA5_ENST00000442747.1_Missense_Mutation_p.P135S|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Missense_Mutation_p.P63S|SHISA5_ENST00000444115.1_Missense_Mutation_p.P135S	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	166	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						TAGCTGGGCGGCACACTTGGA	0.597000													3	50					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62871146	62871146	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr20:62871146G>A	ENST00000536311.1	+	22	3572	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MYT1_ENST00000328439.1_Missense_Mutation_p.E1043K			Q01538	MYT1_HUMAN	myelin transcription factor 1	1043					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAAGAACATCGAGGAGGAGAA	0.577000													15	66					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216061956	216061956	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:216061956G>T	ENST00000366943.2	-	41	8421	c.8035C>A	c.(8035-8037)Cat>Aat	p.H2679N	USH2A_ENST00000307340.3_Missense_Mutation_p.H2679N|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2679	Fibronectin type-III 13.				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)		CTCATGGAATGACTCCTCGGG	0.468000										HNSCC(13;0.011)			9	38					2.74318e-10	3.0175e-10	1	1	0
CCDC125	202243	broad.mit.edu	37	5	68599697	68599697	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:68599697T>C	ENST00000396496.2	-	7	784	c.677A>G	c.(676-678)aAa>aGa	p.K226R	CCDC125_ENST00000460090.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.K225R|CCDC125_ENST00000511257.1_Missense_Mutation_p.K101R|CCDC125_ENST00000396499.1_Missense_Mutation_p.K226R			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	226						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		CTTCAGCATTTTAATTTCTTC	0.279000													6	13					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424015	21424015	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:21424015C>T	ENST00000304625.2	+	2	175	c.85C>T	c.(85-87)Cct>Tct	p.P29S		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	29					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CCATGTCAAACCTCCACAGTT	0.453000													9	66					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316105	72316105	+	Splice_Site	SNP	G	G	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr4:72316105G>T	ENST00000340595.3	+	7	1117		c.e7-1		SLC4A4_ENST00000425175.1_Splice_Site|SLC4A4_ENST00000514331.1_Splice_Site|SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000264485.5_Splice_Site|SLC4A4_ENST00000512686.1_Splice_Site	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTATTCTTTAGGTGTTCCATG	0.408000													4	33					0.184627	0.184627	1	1	0
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr17:7578196A>C	ENST00000420246.2	-	6	785	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000269305.4_Missense_Mutation_p.V218G|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(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)		CTCATAGGGCACCACCACACT	0.552000		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)			5	20					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824372	224824372	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:224824372G>A	ENST00000258383.3	+	2	370	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	101	RNase III.				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATTAAAAGTGAGGAGGCCAA	0.368000													10	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9006365	9006365	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:9006365C>A	ENST00000397910.4	-	45	39856	c.39653G>T	c.(39652-39654)gGc>gTc	p.G13218V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13220	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCTGCAGCCAGAATACAG	0.527000													4	77					0.014758	0.0152625	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79853232	79853232	+	Missense_Mutation	SNP	G	G	T	rs113804310		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr9:79853232G>T	ENST00000360280.3	+	19	2090	c.1830G>T	c.(1828-1830)gaG>gaT	p.E610D	VPS13A_ENST00000376634.4_Missense_Mutation_p.E610D|VPS13A_ENST00000376636.3_Missense_Mutation_p.E610D|VPS13A_ENST00000357409.5_Missense_Mutation_p.E610D	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	610					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCCAAAAGAGGTACATCTAG	0.343000													8	52					1.12685e-05	1.19604e-05	1	1	0
KALRN	8997	broad.mit.edu	37	3	123946894	123946894	+	Missense_Mutation	SNP	A	A	C	rs36107295		TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:123946894A>C	ENST00000360013.3	+	2	252	c.125A>C	c.(124-126)aAg>aCg	p.K42T	KALRN_ENST00000460856.1_Missense_Mutation_p.K42T|KALRN_ENST00000240874.3_Missense_Mutation_p.K42T	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	42	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTAAAGGAAAAGGTGGCCTTC	0.448000													25	123					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36332691	36332691	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:36332691T>C	ENST00000378910.5	-	20	2740	c.2741A>G	c.(2740-2742)gAt>gGt	p.D914G	NPHS1_ENST00000353632.6_Missense_Mutation_p.D914G	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	914	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGGCGTAATCCTGGGCGGC	0.572000													4	35					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41859694	41859694	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr15:41859694C>T	ENST00000263798.3	+	7	1144	c.920C>T	c.(919-921)tCt>tTt	p.S307F	TYRO3_ENST00000559066.1_Missense_Mutation_p.S262F	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	307	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTGGGGCCCTCTCCCTATGCT	0.647000													21	99					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18327881	18327881	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:18327881T>C	ENST00000396253.3	-	6	745	c.283A>G	c.(283-285)Aaa>Gaa	p.K95E	HPS5_ENST00000438420.2_Missense_Mutation_p.K95E|HPS5_ENST00000531848.1_Missense_Mutation_p.K95E|HPS5_ENST00000349215.3_Missense_Mutation_p.K209E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	209						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTTCCAATTTTCCAAAACTTT	0.398000									Hermansky-Pudlak syndrome				5	30					0	0	1	0	0
MRPL40	64976	broad.mit.edu	37	22	19423198	19423198	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:19423198G>C	ENST00000333130.3	+	4	987	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	HIRA_ENST00000546308.1_Intron|HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000471259.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	112					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGAGGAGACTGAGAGGAGAGC	0.522000													37	198					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636403	50636403	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:50636403G>A	ENST00000303434.4	+	8	942	c.823G>A	c.(823-825)Gag>Aag	p.E275K	TRABD_ENST00000395829.1_Missense_Mutation_p.E275K|TRABD_ENST00000380909.4_Missense_Mutation_p.E275K|TRABD_ENST00000395827.1_Missense_Mutation_p.E275K	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	275										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCGGCGCCTCGAGCTGCCTCG	0.692000													14	59					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771514	143771514	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:143771514G>A	ENST00000408898.2	+	1	240	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCTGGCGGTCGTCGACATCGC	0.577000													13	57					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230391092	230391092	+	Splice_Site	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:230391092T>C	ENST00000366672.4	+	11	1208		c.e11+2		GALNT2_ENST00000543760.1_Splice_Site|GALNT2_ENST00000541865.1_Splice_Site	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)						immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTTGCCCGGTAAGTAGTGAA	0.577000													4	34					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927938	23927938	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr19:23927938C>A	ENST00000402377.3	-	4	555	c.414G>T	c.(412-414)caG>caT	p.Q138H	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q69H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATTTTGCTCTGGGTAGTTG	0.294000													3	17					0.115264	0.116225	1	1	0
ZNF311	282890	broad.mit.edu	37	6	28963925	28963925	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:28963925T>C	ENST00000377179.3	-	7	1366	c.854A>G	c.(853-855)aAg>aGg	p.K285R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATTTCTGGTCTTGAATGCTTT	0.438000													8	56					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242174939	242174939	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:242174939C>T	ENST00000391975.1	-	22	3202	c.2975G>A	c.(2974-2976)gGa>gAa	p.G992E	HDLBP_ENST00000310931.4_Missense_Mutation_p.G992E|HDLBP_ENST00000427183.2_Missense_Mutation_p.G959E|HDLBP_ENST00000391976.2_Missense_Mutation_p.G992E	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	992	KH 12.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATCCCACTTCCTTTCTGCCC	0.552000													15	61					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991442	144991442	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr8:144991442T>A	ENST00000322810.4	-	32	13127	c.12958A>T	c.(12958-12960)Atc>Ttc	p.I4320F	PLEC_ENST00000354958.2_Missense_Mutation_p.I4161F|PLEC_ENST00000354589.3_Missense_Mutation_p.I4183F|PLEC_ENST00000357649.2_Missense_Mutation_p.I4187F|PLEC_ENST00000398774.2_Missense_Mutation_p.I4151F|PLEC_ENST00000345136.3_Missense_Mutation_p.I4183F|PLEC_ENST00000356346.3_Missense_Mutation_p.I4169F|PLEC_ENST00000436759.2_Missense_Mutation_p.I4210F|PLEC_ENST00000527096.1_Missense_Mutation_p.I4206F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4320	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGGAGGAGATGGTGATCTCC	0.607000													12	54					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343483	234343483	+	Silent	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr2:234343483G>A	ENST00000264057.2	+	5	534	c.522G>A	c.(520-522)ccG>ccA	p.P174P	DGKD_ENST00000409813.3_Silent_p.P130P	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	174					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACGCGAGGCCGACCTACTGCA	0.562000													17	85					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196089375	196089375	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr3:196089375C>T	ENST00000296328.4	-	9	1092	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	UBXN7_ENST00000535858.1_Missense_Mutation_p.E192K|UBXN7_ENST00000428095.1_Missense_Mutation_p.E178K	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	340	Poly-Glu.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCTCTACCTCTTCTTCTTCA	0.458000													18	125					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32953741	32953741	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:32953741C>T	ENST00000399302.2	+	4	885	c.550C>T	c.(550-552)Cga>Tga	p.R184*	QSER1_ENST00000527788.1_Nonsense_Mutation_p.R184*	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	184	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AGCTCTTCTTCGAGAATGTAG	0.453000													11	91					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847134	83847134	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:83847134G>A	ENST00000349129.2	+	21	3633	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	DOPEY1_ENST00000237163.5_Missense_Mutation_p.E1106K|DOPEY1_ENST00000369739.3_Missense_Mutation_p.E1116K	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1125					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CTTGAGTTACGAAGTTGATCC	0.448000													11	40					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107543983	107543983	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:107543983G>A	ENST00000205402.5	+	5	609	c.328G>A	c.(328-330)Gga>Aga	p.G110R	DLD_ENST00000440410.1_Missense_Mutation_p.G87R|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000537148.1_Missense_Mutation_p.G11R|DLD_ENST00000437604.2_Missense_Mutation_p.G110R	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	110					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	TGCATCTAGAGGAATTGAAAG	0.313000													3	18					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743768	148743768	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr5:148743768C>T	ENST00000514349.1	+	2	774	c.195C>T	c.(193-195)ttC>ttT	p.F65F	PCYOX1L_ENST00000274569.4_Silent_p.F155F			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	155					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGAAGTTCATGAGGTAGG	0.562000													7	24					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121738887	121738887	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr7:121738887C>T	ENST00000393376.1	-	13	1535	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.R480R			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	480	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAACCTTTCTCCTGGTGCCCA	0.318000													4	23					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80197214	80197214	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:80197214C>G	ENST00000392959.1	-	9	2212	c.1601G>C	c.(1600-1602)gGa>gCa	p.G534A	LCA5_ENST00000369846.4_Missense_Mutation_p.G534A	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	534					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTGACCTTCTCCTTTTGGAGT	0.438000													19	84					0	0	1	0	0
PRKD1	5587	broad.mit.edu	37	14	30100021	30100021	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:30100021C>G	ENST00000331968.5	-	10	1828	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D	PRKD1_ENST00000415220.2_Missense_Mutation_p.E541D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522000													12	74					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38225478	38225478	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr13:38225478T>A	ENST00000379705.3	-	8	2860	c.2003A>T	c.(2002-2004)tAc>tTc	p.Y668F	TRPC4_ENST00000355779.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y495F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y668F|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y495F|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y668F|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y668F|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	668	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGATCAGGTACCAGAGAGA	0.423000													15	30					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974261	44974261	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr14:44974261C>A	ENST00000340446.4	-	1	2221	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	644	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAACTTCAGCGGGGGCCTCC	0.662000													5	14					2.0095e-06	2.19053e-06	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27106260	27106260	+	Silent	SNP	C	C	T			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:27106260C>T	ENST00000324856.7	+	20	6242	c.5871C>T	c.(5869-5871)gaC>gaT	p.D1957D	ARID1A_ENST00000374152.2_Silent_p.D1574D|ARID1A_ENST00000457599.2_Silent_p.D1740D|ARID1A_ENST00000540690.1_Silent_p.D285D	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1957					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTAGAGGACGAACCCCACA	0.532000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								17	90					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153651952	153651952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr1:153651952delC	ENST00000368680.3	+	1	840	c.368delC	c.(367-369)gcfs	p.A123fs		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	123					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TACGCCGCCGCCCCAGTGGGG	0.741													2	4	---	---	---	---					
SNX14	57231	broad.mit.edu	37	6	86246536	86246537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr6:86246536_86246537insA	ENST00000314673.3	-	17	1757_1758	c.1581_1582insT	c.(1579-1584)tagtgtfs	p.*C527fs	SNX14_ENST00000369627.2_Frame_Shift_Ins_p.*C518fs|SNX14_ENST00000346348.3_Frame_Shift_Ins_p.*C474fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Frame_Shift_Ins_p.*C475fs|SNX14_ENST00000513865.1_Intron	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	527					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCAGCTACACCATAATTAGGCA	0.317													10	29	---	---	---	---					
HSPA8	3312	broad.mit.edu	37	11	122928524	122928535	+	In_Frame_Del	DEL	CCTCCTGGCATG	CCTCCTGGCATG	-			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr11:122928524_122928535delCCTCCTGGCATG	ENST00000534624.1	-	9	2124_2135	c.1848_1859delCATGCCAGGAGG	c.(1846-1860)gga>gg	p.GMPGG616del	HSPA8_ENST00000533540.1_In_Frame_Del_p.GMPGG470del|HSPA8_ENST00000534319.1_In_Frame_Del_p.GMPGG380del|HSPA8_ENST00000526110.1_In_Frame_Del_p.GMPGG597del|HSPA8_ENST00000532636.1_In_Frame_Del_p.GMPGG616del|HSPA8_ENST00000453788.2_Splice_Site_p.GMPGG463_splice|HSPA8_ENST00000227378.3_In_Frame_Del_p.GMPGG616del	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	616					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCCAGGCATTCCTCCTGGCATGCCTCCTGCAC	0.519													15	85	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													2	4	---	---	---	---					
SYNGR1	9145	broad.mit.edu	37	22	39746049	39746049	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-A4CB-01A-11D-A25D-08	TCGA-CQ-A4CB-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430bec67-a658-440a-8f47-573c9fba6f01	b0fef95e-da4e-4dde-9ca4-beae6138966e	g.chr22:39746049delG	ENST00000328933.5	+	1	49	c.34delG	c.(34-36)ggfs	p.G13fs	SYNGR1_ENST00000318801.4_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000406293.3_Frame_Shift_Del_p.G13fs|SYNGR1_ENST00000216155.7_Frame_Shift_Del_p.G13fs	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GGGCAAAGCCGGGGGCGCCTT	0.766													2	4	---	---	---	---