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
SLC17A7	57030	broad.mit.edu	37	19	49935776	49935776	+	Splice_Site	SNP	C	C	T	rs35127332		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:49935776C>T	ENST00000221485.3	-	9	1321	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	SLC17A7_ENST00000543531.1_Splice_Site_p.G372S|SLC17A7_ENST00000600601.1_Splice_Site_p.G317S	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	384					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCCCACTCACCTCCGCAGTTC	0.642000													3	8					0	0	1	0	0
TAGLN3	29114	broad.mit.edu	37	3	111719684	111719684	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111719684G>C	ENST00000393917.2	+	3	798	c.246G>C	c.(244-246)gaG>gaC	p.E82D	TAGLN3_ENST00000455401.2_Missense_Mutation_p.E82D|TAGLN3_ENST00000478951.1_Missense_Mutation_p.E82D|TAGLN3_ENST00000486460.1_5'UTR|TAGLN3_ENST00000273368.4_Missense_Mutation_p.E82D	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	82	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						AGATCTCAGAGTCAAAGATGG	0.478000													4	243					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	32					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551962	165551962	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:165551962G>A	ENST00000375458.2	-	11	2161	c.1940C>T	c.(1939-1941)tCa>tTa	p.S647L	COBLL1_ENST00000409184.3_Missense_Mutation_p.S685L|COBLL1_ENST00000194871.6_Missense_Mutation_p.S752L|COBLL1_ENST00000342193.4_Missense_Mutation_p.S685L|COBLL1_ENST00000392717.2_Missense_Mutation_p.S723L	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	723										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGAATCTTGTGAACTTAAGCA	0.368000													31	81					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60456396	60456396	+	Silent	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:60456396C>A	ENST00000371201.3	-	12	1697	c.1590G>T	c.(1588-1590)tcG>tcT	p.S530S	C1orf87_ENST00000450089.2_Silent_p.S301S|C1orf87_ENST00000395552.1_Silent_p.S164S|C1orf87_ENST00000486478.1_5'UTR	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	530							calcium ion binding	p.S530S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TATTTTCTCCCGAACGGAATC	0.468000													4	207					0.184627	0.184627	1	1	0
UBALD2	283991	broad.mit.edu	37	17	74266281	74266281	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:74266281A>G	ENST00000327490.6	+	3	494	c.190A>G	c.(190-192)Act>Gct	p.T64A	UBALD2_ENST00000589240.1_Missense_Mutation_p.T4A	NM_182565.3	NP_872371.1			UBA-like domain containing 2																		GCAGATGTGCACTCCCAGCAA	0.677000													4	19					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165315	123165315	+	Silent	SNP	C	C	T	rs141234621		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr9:123165315C>T	ENST00000349780.4	-	34	5255	c.5076G>A	c.(5074-5076)acG>acA	p.T1692T	CDK5RAP2_ENST00000360822.3_Silent_p.T1660T|CDK5RAP2_ENST00000360190.4_Silent_p.T1613T|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000359309.3_Silent_p.T1651T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1692					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						AGAGGGAGTCCGTGTCATTCC	0.537000													3	69					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218101	105218101	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:105218101G>A	ENST00000329905.5	-	1	544	c.408C>T	c.(406-408)agC>agT	p.S136S	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	136						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGCCCAGTGCGCTCACGGGCA	0.706000													8	25					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124997998	124997998	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:124997998G>T	ENST00000360647.4	-	6	1038	c.553C>A	c.(553-555)Cac>Aac	p.H185N	ZNF148_ENST00000485866.1_Missense_Mutation_p.H185N|ZNF148_ENST00000492394.1_Missense_Mutation_p.H185N|ZNF148_ENST00000484491.1_Missense_Mutation_p.H185N|SLC12A8_ENST00000423114.2_Silent_p.I8I|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	185					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						CTCTGTAAGTGATAGTTCGTT	0.358000													40	57					8.16277e-20	9.09036e-20	1	1	0
ASNS	440	broad.mit.edu	37	7	97488604	97488604	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr7:97488604G>A	ENST00000175506.4	-	6	1122	c.594C>T	c.(592-594)tcC>tcT	p.S198S	ASNS_ENST00000437628.1_Silent_p.S115S|ASNS_ENST00000422745.1_Silent_p.S177S|ASNS_ENST00000444334.1_Silent_p.S177S|ASNS_ENST00000455086.1_Silent_p.S115S|ASNS_ENST00000394309.3_Silent_p.S198S|ASNS_ENST00000394308.3_Silent_p.S198S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	198					cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATTTCCACGGATGCAACTT	0.458000													30	79					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													3	68					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S	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	63					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605187	37605187	+	Silent	SNP	G	G	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr21:37605187G>C	ENST00000399151.3	+	15	2521	c.2436G>C	c.(2434-2436)gtG>gtC	p.V812V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	812					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCAGAACGTGGCCATTTCCA	0.498000													16	116					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102840	34102840	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:34102840G>A	ENST00000389232.4	+	71	10257	c.10187G>A	c.(10186-10188)cGa>cAa	p.R3396Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3396					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAAAATCGCGATACAGCCAT	0.547000													14	22					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132445686	132445686	+	Silent	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:132445686C>T	ENST00000333577.4	+	2	631	c.522C>T	c.(520-522)agC>agT	p.S174S	EP400_ENST00000389561.2_Silent_p.S174S|EP400_ENST00000330386.6_Silent_p.S174S|EP400_ENST00000332482.4_Silent_p.S174S|EP400_ENST00000389562.2_Silent_p.S174S			Q96L91	EP400_HUMAN	E1A binding protein p400	174					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGATGCCAGCGTGCTGGTGA	0.667000													5	18					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175140	11175140	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:11175140T>C	ENST00000390673.2	-	1	79	c.31A>G	c.(31-33)Att>Gtt	p.I11V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	11					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTACCAGAATTGATGAAATG	0.378000													4	26					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416600	121416600	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr12:121416600C>T	ENST00000257555.6	+	1	255	c.29C>T	c.(28-30)aCg>aTg	p.T10M	HNF1A_ENST00000400024.2_Missense_Mutation_p.T10M|HNF1A_ENST00000541395.1_Missense_Mutation_p.T10M|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000544413.1_Missense_Mutation_p.T10M|HNF1A_ENST00000402929.1_Missense_Mutation_p.T10M|HNF1A_ENST00000538626.1_Missense_Mutation_p.T10M			P20823	HNF1A_HUMAN	HNF1 homeobox A	10	Dimerization.				glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q9fs*11(1)|p.Q7_L12del(1)|p.?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAGCTGCAGACGGAGCTCCTG	0.692000									Hepatic Adenoma, Familial Clustering of				12	62					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:1266085C>G	ENST00000447027.1	+	31	8042	c.7984C>G	c.(7984-7986)Ccc>Gcc	p.P2662A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617000													3	37					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426980	111426980	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:111426980C>T	ENST00000393934.3	+	2	941	c.371C>T	c.(370-372)gCc>gTc	p.A124V	PLCXD2_ENST00000477665.1_Missense_Mutation_p.A124V	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	124	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCAGGGGATGCCGACCAGGAG	0.507000													4	97					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29891286	29891286	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:29891286C>T	ENST00000308713.5	-	9	1999	c.1472G>A	c.(1471-1473)tGc>tAc	p.C491Y	SEZ6L2_ENST00000350527.3_Missense_Mutation_p.C421Y|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.C447Y|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.C377Y	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	491	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTGGGAGGCACGAGAAGGT	0.617000													15	93					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E	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	64					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677083	219677083	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:219677083G>A	ENST00000258415.4	+	3	1012	c.585G>A	c.(583-585)gaG>gaA	p.E195E		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	195					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCGGGCAGAGAGTGCTTCGG	0.557000													21	97					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1023628	1023628	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:1023628G>A	ENST00000421673.2	-	26	3457	c.3407C>T	c.(3406-3408)aCg>aTg	p.T1136M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1136					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCGTGTGCGTGTTGTAGAA	0.662000													4	25					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106802875	106802875	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802875C>A	ENST00000369701.3	+	5	1244	c.1017C>A	c.(1015-1017)aaC>aaA	p.N339K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	339						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCACACCCAACAGGTTTTATT	0.433000													5	71					4.14922e-12	4.41982e-12	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	34					0	0	1	0	0
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral to membrane		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682000													9	13					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:169196591G>A	ENST00000393743.3	-	16	2500	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737W(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393000													15	44					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106802876	106802876	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802876A>G	ENST00000369701.3	+	5	1245	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	340						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CACACCCAACAGGTTTTATTG	0.433000													6	68					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101063356	101063356	+	RNA	SNP	C	C	T	rs79106047	by1000genomes	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr7:101063356C>T	ENST00000313669.7	+	0	449				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		TGCCGGTGGCCGGGGCCCTGC	0.647000													4	50					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19047013	19047013	+	Silent	SNP	C	C	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:19047013C>T	ENST00000421369.3	+	7	1101	c.543C>T	c.(541-543)ttC>ttT	p.F181F	TMC7_ENST00000304381.5_Silent_p.F291F|TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000569532.1_Silent_p.F291F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	291						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGAAGGATTCAAAATCAACC	0.458000													44	34					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106802882	106802882	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr10:106802882T>A	ENST00000369701.3	+	5	1251	c.1024T>A	c.(1024-1026)Tat>Aat	p.Y342N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	342						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAACAGGTTTTATTGGTAAGC	0.438000													7	69					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49703225	49703225	+	Missense_Mutation	SNP	C	C	A	rs144478251	byFrequency	TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr6:49703225C>A	ENST00000433368.2	-	4	407	c.338G>T	c.(337-339)cGa>cTa	p.R113L	CRISP3_ENST00000263045.4_Missense_Mutation_p.R103L|CRISP3_ENST00000423399.2_5'UTR|CRISP3_ENST00000393666.1_Missense_Mutation_p.R90L|CRISP3_ENST00000371159.4_Missense_Mutation_p.R121L	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	90					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACTTGTCATTCGATCCTTTGG	0.328000													35	100					5.8336e-16	6.35215e-16	1	1	0
LONRF1	91694	broad.mit.edu	37	8	12586450	12586450	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:12586450C>A	ENST00000398246.3	-	10	2039	c.1970G>T	c.(1969-1971)gGa>gTa	p.G657V	LONRF1_ENST00000533751.1_Missense_Mutation_p.G300V|LONRF1_ENST00000525024.1_Missense_Mutation_p.G83V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	657	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGTGCAATATCCATCTTTCAT	0.393000													26	46					1.42536e-11	1.48601e-11	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41266101	41266101	+	Missense_Mutation	SNP	C	C	A	rs121913416		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:41266101C>A	ENST00000349496.5	+	3	378	c.98C>A	c.(97-99)tCt>tAt	p.S33Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S33C(168)|p.S33F(97)|p.S33Y(60)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TACCTGGACTCTGGAATCCAT	0.488000	S33C(SKMEL1_SKIN)|S33F(SW1573_LUNG)|S33Y(SW48_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				9	39					3.86212e-05	3.94258e-05	1	1	0
MACF1	23499	broad.mit.edu	37	1	39798764	39798764	+	Silent	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:39798764T>C	ENST00000564288.1	+	37	7281	c.6504T>C	c.(6502-6504)ttT>ttC	p.F2168F	MACF1_ENST00000567887.1_Silent_p.F2205F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.F608F|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F2173F|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2173					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACACTTCCTTTACATGTCAGA	0.403000													15	38					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72300187	72300187	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr15:72300187T>C	ENST00000356056.5	-	8	1832	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V	MYO9A_ENST00000444904.1_Missense_Mutation_p.I435V|MYO9A_ENST00000564571.1_Missense_Mutation_p.I454V|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.I454V|MYO9A_ENST00000566885.1_Missense_Mutation_p.I49V|RP11-390D11.1_ENST00000568391.1_RNA	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	454	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAGACAATAGGCAGAACT	0.323000													18	35					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448000										Prostate(2;0.17)			37	88					0	0	1	0	0
RMDN1	51115	broad.mit.edu	37	8	87487083	87487083	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:87487083T>C	ENST00000406452.3	-	9	1019	c.860A>G	c.(859-861)aAg>aGg	p.K287R	RMDN1_ENST00000519966.1_Missense_Mutation_p.K244R|RMDN1_ENST00000430676.2_Missense_Mutation_p.K257R|RMDN1_ENST00000523911.1_Missense_Mutation_p.K230R	NM_016033.2	NP_057117.2			regulator of microtubule dynamics 1																		TGGATAGTCCTTGGCTTTCAT	0.383000													49	96					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108056136	108056136	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr11:108056136A>G	ENST00000278612.8	-	9	917	c.812T>C	c.(811-813)tTa>tCa	p.L271S	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	271	Interaction with MIZF.|Mediates transcriptional activation.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTACCTAGTTAAAAATTTATT	0.264000													6	16					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H|SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478000													4	60					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	66					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-	rs11556342		TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000532105.1_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				7	98	---	---	---	---					
AC074391.1	0	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													2	4	---	---	---	---					
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr3:169896635_169896637delTGG	ENST00000495893.2	-	2	135_137	c.104_106delCCA	c.(103-108)accatc>atc	p.T35del	PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000494943.1_In_Frame_Del_p.T23del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del|PHC3_ENST00000467570.1_In_Frame_Del_p.T35del	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493													7	278	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187525553	187525554	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr4:187525553_187525554delTC	ENST00000441802.2	-	18	10734_10735	c.10525_10526delGA	c.(10525-10527)gatfs	p.D3509fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3509	Cadherin 32.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAGTAATGATCTTTCTCCTTC	0.431										HNSCC(5;0.00058)			9	36	---	---	---	---					
OR2V2	285659	broad.mit.edu	37	5	180582423	180582423	+	Frame_Shift_Del	DEL	A	A	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr5:180582423delA	ENST00000328275.1	+	1	481	c.481delA	c.(481-483)atgfs	p.M161fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGATCCAGATGGTGGTAGT	0.488													39	126	---	---	---	---					
FAM83H	286077	broad.mit.edu	37	8	144809818	144809818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr8:144809818delC	ENST00000388913.3	-	5	1938	c.1813delG	c.(1813-1815)gaafs	p.E605fs		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	605				E -> V (in Ref. 2; BAC87207).	biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCTCCGCTTCCATGGGCGCC	0.746													2	4	---	---	---	---					
SMG1	23049	broad.mit.edu	37	16	18937310	18937312	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr16:18937310_18937312delGCC	ENST00000446231.2	-	1	464_466	c.52_54delGGC	c.(52-54)ggcdel	p.G18del	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_In_Frame_Del_p.G18del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	18	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GATACTTGGTgccgccgccgccg	0.749													3	5	---	---	---	---					
ACADVL	37	broad.mit.edu	37	17	7127384	7127385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr17:7127384_7127385insT	ENST00000356839.5	+	14	1609_1610	c.1430_1431insT	c.(1429-1434)tgtatgfs	p.M478fs	ACADVL_ENST00000350303.5_Frame_Shift_Ins_p.M456fs|ACADVL_ENST00000543245.2_Frame_Shift_Ins_p.M501fs	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	478	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CTGCAGGGCTGTATGGTAAGAC	0.540													10	39	---	---	---	---					
LSM14A	26065	broad.mit.edu	37	19	34685513	34685514	+	Frame_Shift_Ins	INS	-	-	T			TCGA-VP-A87H-01A-11D-A34U-08	TCGA-VP-A87H-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83d97b01-92e2-41d7-acca-2d96a560970b	d500dcf5-dcd0-4372-b69e-011974798a94	g.chr19:34685513_34685514insT	ENST00000544216.3	+	2	329_330	c.252_253insT	c.(253-255)tgtfs	p.C85fs	LSM14A_ENST00000540746.2_Frame_Shift_Ins_p.C85fs|LSM14A_ENST00000433627.5_Frame_Shift_Ins_p.C85fs	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	85					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CAAAACCACAGTGTTCTTTGCC	0.431													14	117	---	---	---	---					
