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
HPS3	84343	broad.mit.edu	37	3	148880568	148880568	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:148880568T>G	ENST00000296051.2	+	13	2524	c.2384T>G	c.(2383-2385)cTt>cGt	p.L795R	HPS3_ENST00000460120.1_Missense_Mutation_p.L630R	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	795						cytoplasm		p.L795R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATGTGGTACTTCAGGAACTC	0.458000									Hermansky-Pudlak syndrome				28	62					0	0	0.740014	0	0
POLK	51426	broad.mit.edu	37	5	74892214	74892214	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:74892214A>G	ENST00000241436.4	+	13	1868	c.1696A>G	c.(1696-1698)Agt>Ggt	p.S566G	POLK_ENST00000380481.3_Missense_Mutation_p.S476G|POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.S368G|POLK_ENST00000508526.1_Missense_Mutation_p.S368G|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	566					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	p.S566G(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TCATAAGAAGAGTTTCTTTGA	0.363000								DNA polymerases (catalytic subunits)					6	76					0	0	0.248553	0	0
VEGFC	7424	broad.mit.edu	37	4	177605128	177605128	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:177605128T>G	ENST00000280193.2	-	7	1627	c.1212A>C	c.(1210-1212)gaA>gaC	p.E404D	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	404					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.E404D(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		AACGACACACTTCTTCACTAT	0.403000													23	84					0	0	0.639603	0	0
ABCC6	368	broad.mit.edu	37	16	16256971	16256971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:16256971C>A	ENST00000205557.7	-	24	3414	c.3385G>T	c.(3385-3387)Gag>Tag	p.E1129*		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1129	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E1129*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGGAACGTCTCAGCCATGTGG	0.567000													25	56					5.35356e-11	5.60339e-11	0.639603	1	0
SLC37A1	54020	broad.mit.edu	37	21	43945903	43945903	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:43945903T>G	ENST00000352133.2	+	3	1056	c.74T>G	c.(73-75)tTt>tGt	p.F25C	SLC37A1_ENST00000471277.1_3'UTR|SLC37A1_ENST00000398341.3_Missense_Mutation_p.F25C			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	25					carbohydrate transport|transmembrane transport	integral to membrane		p.F25C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GCCTTCATTTTTATTTTGACA	0.373000													4	46					0	0	0.217242	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336857	104336857	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:104336857A>T	ENST00000299767.5	+	13	1832	c.1650A>T	c.(1648-1650)gaA>gaT	p.E550D		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	550					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	p.E550D(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGTAGGCTGAATCTTCTCCAT	0.388000													35	104					0	0	0.853193	0	0
MIR517A	574479	broad.mit.edu	37	19	54215570	54215570	+	RNA	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:54215570A>G	ENST00000385001.1	+	0	49					NR_030201.1																						TGTATAAAAGAAAAGATCGTG	0.458000													22	59					0	0	0.639603	0	0
C17orf104	284071	broad.mit.edu	37	17	42744680	42744680	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:42744680T>G	ENST00000409122.2	+	5	1543	c.1401T>G	c.(1399-1401)tcT>tcG	p.S467S	C17orf104_ENST00000409464.1_Silent_p.S301S|C17orf104_ENST00000359945.3_Silent_p.S467S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	467								p.S467S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CAGCAACATCTTCAGGAGGTA	0.328000													43	133					0	0	0.834066	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	102					0	0	0.115264	0	0
PMS1	5378	broad.mit.edu	37	2	190719714	190719714	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:190719714G>A	ENST00000441310.2	+	9	1949	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	PMS1_ENST00000418224.3_Silent_p.K396K|PMS1_ENST00000409823.3_Silent_p.K533K|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000447232.2_Silent_p.K572K|PMS1_ENST00000432292.3_Silent_p.K396K	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	572					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GAGTAATCAAGAAACCCATGT	0.318000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					10	120					0	0	0.361761	0	0
PGBD1	84547	broad.mit.edu	37	6	28265725	28265725	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28265725G>A	ENST00000405948.2	+	6	1246	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E276K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	276					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.E276K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAAACTTCTGAAGAAATGGA	0.343000													12	63					0	0	0.387290	0	0
ERAP2	64167	broad.mit.edu	37	5	96253179	96253179	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:96253179T>G	ENST00000437043.3	+	19	3464	c.2753T>G	c.(2752-2754)tTt>tGt	p.F918C	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.F873C	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	918					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.F918C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AAACTATTTTTTGAATCTCTT	0.383000													22	113					0	0	0.639603	0	0
CD5L	922	broad.mit.edu	37	1	157805885	157805885	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:157805885A>C	ENST00000368174.4	-	3	212	c.116T>G	c.(115-117)gTg>gGg	p.V39G	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	39	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.V39G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCTGTTCCACCTCCACCCG	0.637000													10	104					0	0	0.624587	0	0
MYO5B	4645	broad.mit.edu	37	18	47462675	47462675	+	Silent	SNP	C	C	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:47462675C>G	ENST00000285039.7	-	16	2249	c.1950G>C	c.(1948-1950)acG>acC	p.T650T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	650	Actin-binding (Potential).|Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.T650T(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGAGGTGTCGTGGCATTCA	0.517000													2	6					0	0	0.115264	0	0
ATP1A4	480	broad.mit.edu	37	1	160124926	160124926	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:160124926T>G	ENST00000368081.4	+	3	770	c.299T>G	c.(298-300)tTc>tGc	p.F100C		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	100					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.F100C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGTCAAATTCTGTAAGCAA	0.522000													19	85					0	0	0.575678	0	0
APOB	338	broad.mit.edu	37	2	21233338	21233338	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:21233338T>G	ENST00000233242.1	-	26	6529	c.6402A>C	c.(6400-6402)caA>caC	p.Q2134H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2134	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.Q2134H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATGTGAAACTTGTCTCTCCC	0.343000													5	39					0	0	0.184627	0	0
TAOK2	9344	broad.mit.edu	37	16	29999087	29999087	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:29999087G>T	ENST00000308893.4	+	16	4537	c.3494G>T	c.(3493-3495)aGc>aTc	p.S1165I	TAOK2_ENST00000543033.1_Missense_Mutation_p.S1052I|TAOK2_ENST00000416441.2_Missense_Mutation_p.S992I|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1165					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.S1165I(1)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCACGGGCCAGCCAGGGTTTA	0.667000													11	58					0.010729	0.0110095	0.387290	1	0
TMEM198	130612	broad.mit.edu	37	2	220412409	220412409	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:220412409G>A	ENST00000344458.2	+	4	933	c.348G>A	c.(346-348)gtG>gtA	p.V116V	TMEM198_ENST00000373883.3_Silent_p.V116V			Q66K66	TM198_HUMAN	transmembrane protein 198	116	Leu-rich.					integral to membrane		p.V116V(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCGCAGCGTGGGCCTCTTCC	0.701000													7	49					0	0	0.248553	0	0
MUC17	140453	broad.mit.edu	37	7	100678181	100678181	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:100678181T>C	ENST00000306151.4	+	3	3548	c.3484T>C	c.(3484-3486)Tta>Cta	p.L1162L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1162	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L1162L(1)		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)					AACCACTCCGTTAGCAAGTAT	0.517000													82	180					0	0	0.870114	0	0
REST	5978	broad.mit.edu	37	4	57797750	57797750	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:57797750T>G	ENST00000309042.7	+	4	3040	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	909					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	p.L909R(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTACCTGGTCTTGCTGCTAAT	0.428000													3	74					0	0	0.115264	0	0
OR6C2	341416	broad.mit.edu	37	12	55846627	55846627	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:55846627T>G	ENST00000322678.1	+	1	630	c.630T>G	c.(628-630)gtT>gtG	p.V210V	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V210V(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TCACCCTAGTTTGTGTGATTC	0.408000													33	110					0	0	0.788014	0	0
CR2	1380	broad.mit.edu	37	1	207642160	207642160	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:207642160C>T	ENST00000367057.3	+	4	839	c.650C>T	c.(649-651)tCt>tTt	p.S217F	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367059.3_Missense_Mutation_p.S217F|CR2_ENST00000458541.2_Missense_Mutation_p.S217F|CR2_ENST00000367058.3_Missense_Mutation_p.S217F	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	217	Sushi 4.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.S217F(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CGCTGTAAATCTCTAGGACGA	0.408000													26	101					0	0	0.681144	0	0
PRG4	10216	broad.mit.edu	37	1	186276052	186276052	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:186276052A>C	ENST00000445192.2	+	7	1246	c.1201A>C	c.(1201-1203)Acc>Ccc	p.T401P	PRG4_ENST00000367484.3_Missense_Mutation_p.T360P|PRG4_ENST00000367486.3_Missense_Mutation_p.T358P|PRG4_ENST00000367483.4_Missense_Mutation_p.T360P|PRG4_ENST00000367485.4_Missense_Mutation_p.T308P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T401P(4)|p.T400>?(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.642000													3	66					0	0	0.361761	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20062036	20062036	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:20062036T>G	ENST00000276390.2	+	2	218	c.178T>G	c.(178-180)Tta>Gta	p.L60V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	60					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.L60V(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		ACTAGTGATCTTAGATCATGT	0.313000													14	55					0	0	0.557998	0	0
EPG5	57724	broad.mit.edu	37	18	43534828	43534828	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:43534828T>G	ENST00000282041.5	-	2	574	c.540A>C	c.(538-540)gaA>gaC	p.E180D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	180					autophagy			p.E180D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTTGTTTGTCTTCTTTACTAT	0.418000													7	57					0	0	0.248553	0	0
LRCH1	23143	broad.mit.edu	37	13	47224374	47224374	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:47224374T>A	ENST00000311191.6	+	2	575	c.346T>A	c.(346-348)Ttg>Atg	p.L116M	LRCH1_ENST00000389797.3_Missense_Mutation_p.L116M|LRCH1_ENST00000389798.3_Missense_Mutation_p.L116M	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	116								p.L116M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TCCAATGGAATTGTGCCATTT	0.333000													10	30					0	0	0.335167	0	0
KLF16	83855	broad.mit.edu	37	19	1854696	1854696	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:1854696A>G	ENST00000250916.4	-	2	591	c.521T>C	c.(520-522)cTg>cCg	p.L174P	KLF16_ENST00000592313.1_5'UTR	NM_031918.3	NP_114124.1	Q9BXK1	KLF16_HUMAN	Kruppel-like factor 16	174						nucleus	DNA binding|zinc ion binding	p.L174P(1)		lung(1)	1		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GTGGCGGGCCAGCTCGTCGGA	0.672000													4	26					0	0	0.335167	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835749	12835749	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:12835749T>C	ENST00000357726.4	+	2	378	c.351T>C	c.(349-351)tcT>tcC	p.S117S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	117								p.S117S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCATATGGTCTGGAGCTTCTG	0.542000													15	174					0	0	0.520397	0	0
RUFY3	22902	broad.mit.edu	37	4	71665865	71665865	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:71665865A>C	ENST00000381006.3	+	15	2144	c.1565A>C	c.(1564-1566)aAg>aCg	p.K522T	RUFY3_ENST00000512331.1_3'UTR|RUFY3_ENST00000502653.1_Missense_Mutation_p.K469T	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	359					negative regulation of axonogenesis	filopodium|growth cone		p.K522T(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGATGGGAAGCACAAAATG	0.328000													9	26					0	0	0.361761	0	0
GOLGA4	2803	broad.mit.edu	37	3	37365668	37365668	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:37365668T>C	ENST00000361924.2	+	14	2665	c.2291T>C	c.(2290-2292)cTc>cCc	p.L764P	GOLGA4_ENST00000356847.4_Missense_Mutation_p.L786P|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	764	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L764P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTTGAGCTTCTCTTGAAGGAA	0.408000													5	74					0	0	0.217242	0	0
PWP2	5822	broad.mit.edu	37	21	45540652	45540652	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:45540652T>C	ENST00000291576.7	+	12	1605	c.1478T>C	c.(1477-1479)cTc>cCc	p.L493P		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	493						cytoplasm|nucleolus	signal transducer activity	p.L493P(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACAGGCAGGCTCCTTGATGTA	0.632000													13	41					0	0	0.520397	0	0
C2CD5	9847	broad.mit.edu	37	12	22680702	22680702	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:22680702G>A	ENST00000333957.4	-	4	557	c.302C>T	c.(301-303)gCt>gTt	p.A101V	C2CD5_ENST00000396028.2_Missense_Mutation_p.A101V|C2CD5_ENST00000542676.1_Missense_Mutation_p.A101V|C2CD5_ENST00000545552.1_Missense_Mutation_p.A101V|C2CD5_ENST00000446597.1_Missense_Mutation_p.A101V|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000536386.1_Missense_Mutation_p.A101V	NM_014802.1	NP_055617.1			C2 calcium-dependent domain containing 5									p.A101V(1)									GACTGTTGCAGCTTCACTATA	0.323000													34	82					0	0	0.812448	0	0
MIR329-2	574409	broad.mit.edu	37	14	101493500	101493500	+	RNA	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr14:101493500T>C	ENST00000385029.1	+	0	64					NR_029968.1																						CACACCTGGTTAACCTCTTTT	0.473000													8	126					0	0	0.335167	0	0
PRF1	5551	broad.mit.edu	37	10	72360376	72360376	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:72360376A>G	ENST00000441259.1	-	2	443	c.283T>C	c.(283-285)Tgg>Cgg	p.W95R	PRF1_ENST00000373209.2_Missense_Mutation_p.W95R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	95	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	p.W95R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGGCCCGCCAGTTGGTGAGC	0.657000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				7	17					0	0	0.278610	0	0
WDR96	80217	broad.mit.edu	37	10	105944850	105944850	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:105944850T>G	ENST00000357060.3	-	16	2180	c.2065A>C	c.(2065-2067)Atg>Ctg	p.M689L	WDR96_ENST00000428666.1_Missense_Mutation_p.M690L|WDR96_ENST00000278064.2_Missense_Mutation_p.M620L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	689								p.M689L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GAAATTCTCATTGACTGAATC	0.383000													5	107					0	0	0.217242	0	0
PLXND1	23129	broad.mit.edu	37	3	129305021	129305021	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:129305021T>C	ENST00000393239.1	-	4	1893	c.1715A>G	c.(1714-1716)gAg>gGg	p.E572G	PLXND1_ENST00000324093.4_Missense_Mutation_p.E572G			Q9Y4D7	PLXD1_HUMAN	plexin D1	572					axon guidance	integral to membrane|intracellular|plasma membrane		p.E572G(1)	PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCACCGCGTCTCCAGGGCACA	0.701000													4	6					0	0	0.217242	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279608	18279608	+	Silent	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:18279608C>T	ENST00000593731.1	+	15	2441	c.1881C>T	c.(1879-1881)atC>atT	p.I627I	PIK3R2_ENST00000222254.7_Silent_p.I627I			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	627	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.I627I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TGGGCAAGATCAACCGCACGC	0.667000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	11					0	0	0.115264	0	0
RENBP	5973	broad.mit.edu	37	X	153209152	153209152	+	Missense_Mutation	SNP	C	C	A	rs34430440	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:153209152C>A	ENST00000412763.1	-	5	477	c.308G>T	c.(307-309)cGg>cTg	p.R103L	RENBP_ENST00000369997.3_Missense_Mutation_p.R89L|RENBP_ENST00000393700.3_Missense_Mutation_p.R103L			P51606	RENBP_HUMAN	renin binding protein	103					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	p.R93L(1)|p.R103L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	CCGGGCATACCGCAGCAAGAA	0.632000													23	53					1.1804e-14	1.24377e-14	0.667858	1	0
CDC42BPA	8476	broad.mit.edu	37	1	227223259	227223259	+	Silent	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:227223259A>C	ENST00000366769.3	-	24	4435	c.3144T>G	c.(3142-3144)acT>acG	p.T1048T	CDC42BPA_ENST00000366767.3_Silent_p.T967T|CDC42BPA_ENST00000366765.3_Silent_p.T1061T|CDC42BPA_ENST00000535525.1_Silent_p.T1028T|CDC42BPA_ENST00000366764.2_Silent_p.T1020T|CDC42BPA_ENST00000366766.2_Silent_p.T1083T|CDC42BPA_ENST00000334218.5_Silent_p.T1048T	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1061					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.T1083T(1)|p.T1048T(1)|p.T967T(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAACTGGACAAGTGGTTGGAG	0.378000													6	127					0	0	0.278610	0	0
LHB	3972	broad.mit.edu	37	19	49519935	49519935	+	Missense_Mutation	SNP	C	C	T	rs146354951	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:49519935C>T	ENST00000221421.2	-	2	51	c.52G>A	c.(52-54)Gca>Aca	p.A18T		NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	18			A -> T (more effective in stimulating IP3 but not cAMP production; dbSNP:rs5030775).		cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	p.A18T(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	GATGCCCATGCCCCGCCCATG	0.647000													3	45					0	0	0.115264	0	0
ZNF74	7625	broad.mit.edu	37	22	20754938	20754938	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr22:20754938A>C	ENST00000400451.2	+	3	651	c.137A>C	c.(136-138)aAg>aCg	p.K46T	ZNF74_ENST00000357502.5_Missense_Mutation_p.Q51H|ZNF74_ENST00000403682.3_Missense_Mutation_p.Q17H|ZNF74_ENST00000405993.1_Missense_Mutation_p.K46T|ZNF74_ENST00000356671.5_Missense_Mutation_p.K46T	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	46	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	p.K46T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGAGTTTCAAGGATGTGGCT	0.502000													15	45					0	0	0.500413	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340050	29340050	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:29340050C>T	ENST00000269205.5	-	1	793	c.605G>A	c.(604-606)gGc>gAc	p.G202D	SLC25A52_ENST00000579441.2_Missense_Mutation_p.G192D	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	192					transport	integral to membrane|mitochondrial inner membrane		p.G192D(1)|p.G202D(1)									ACCTCGAAGGCCGAAAAACAA	0.478000													10	68					0	0	0.361761	0	0
PGBD1	84547	broad.mit.edu	37	6	28264604	28264604	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264604G>A	ENST00000405948.2	+	5	1074	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PGBD1_ENST00000259883.3_Silent_p.K218K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	218					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.K218K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CATTGGTGAAGACTGAGGAAG	0.463000													14	71					0	0	0.457914	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626586	44626586	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:44626586T>C	ENST00000576629.1	+	10	4576	c.4081T>C	c.(4081-4083)Tcc>Ccc	p.S1361P	LRRC37A2_ENST00000333412.3_Missense_Mutation_p.S1361P|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1361						integral to membrane		p.S1361P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGCTTTTTCATCCTTAGGAGA	0.413000													13	160					0	0	0.654019	0	0
ASB6	140459	broad.mit.edu	37	9	132402830	132402830	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:132402830G>A	ENST00000277458.4	-	2	450	c.285C>T	c.(283-285)ctC>ctT	p.L95L	ASB6_ENST00000450050.2_Intron|ASB6_ENST00000277459.4_Silent_p.L95L|RP11-483H20.4_ENST00000455074.1_RNA	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	95					intracellular signal transduction	cytoplasm		p.L95L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CTTCAAAGTTGAGATTGGCCC	0.652000													12	19					0	0	0.479597	0	0
NCAN	1463	broad.mit.edu	37	19	19338102	19338102	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:19338102G>A	ENST00000252575.5	+	8	1716	c.1673G>A	c.(1672-1674)gGc>gAc	p.G558D	NCAN_ENST00000538881.1_Missense_Mutation_p.G9D	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	558					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.G558D(1)|p.G572D(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCTGCTGGTGGCAAGAGCTCC	0.607000													8	98					0	0	0.307466	0	0
TUSC3	7991	broad.mit.edu	37	8	15508234	15508234	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:15508234G>T	ENST00000382020.4	+	3	545	c.337G>T	c.(337-339)Gcg>Tcg	p.A113S	TUSC3_ENST00000503731.1_Missense_Mutation_p.A113S|TUSC3_ENST00000506802.1_Missense_Mutation_p.A113S|TUSC3_ENST00000509380.1_Missense_Mutation_p.A113S|TUSC3_ENST00000503191.1_Intron	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	113					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.A113S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCAAATACTGGCGAACTCCTG	0.393000													56	128					2.47907e-22	2.62982e-22	0.870114	1	0
PSG2	5670	broad.mit.edu	37	19	43576000	43576000	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:43576000A>G	ENST00000406487.1	-	4	914	c.816T>C	c.(814-816)tcT>tcC	p.S272S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	272	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.S272S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAATTGTCCAAGAATACTGTG	0.443000													51	55					0	0	0.870114	0	0
MTMR7	9108	broad.mit.edu	37	8	17188790	17188790	+	Splice_Site	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:17188790A>C	ENST00000180173.5	-	7	768	c.732_splice	c.e7-1	p.L245_splice	MTMR7_ENST00000521857.1_Splice_Site_p.L245_splice	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	245	Myotubularin phosphatase.						protein tyrosine phosphatase activity	p.L245R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CATTGCATTAAGCTGCAGTGG	0.378000													22	29					0	0	0.608945	0	0
ZNF271P	10778	broad.mit.edu	37	18	32886980	32886980	+	RNA	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:32886980T>C	ENST00000399070.3	+	0	1374					NR_024565.1|NR_024566.1													p.F131S(1)		large_intestine(3)|lung(9)	12						ATCACAGAATTCATACAGGTG	0.383000													4	63					0	0	0.150653	0	0
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:80723075A>C	ENST00000509894.1	+	9	1805	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_ENST00000369798.2_Missense_Mutation_p.N326H|TTK_ENST00000230510.3_Missense_Mutation_p.N326H			P33981	TTK_HUMAN	TTK protein kinase	326					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358000													13	151					0	0	0.479597	0	0
UTP14A	10813	broad.mit.edu	37	X	129059058	129059058	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:129059058C>T	ENST00000394422.3	+	12	1664	c.1636C>T	c.(1636-1638)Cct>Tct	p.P546S	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.P492S|UTP14A_ENST00000425117.2_Missense_Mutation_p.P494S|UTP14A_ENST00000371042.3_Missense_Mutation_p.P378S	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	546					rRNA processing	nucleolus|small-subunit processome	protein binding	p.P546S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAATAATCGCCCTGATGCCCC	0.478000													19	97					0	0	0.592651	0	0
SLC4A10	57282	broad.mit.edu	37	2	162696373	162696373	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:162696373T>G	ENST00000375514.5	+	5	672	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F118V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.F118V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F118V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	118					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.F118V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCATGACCTTTTCACAGAACT	0.443000													5	67					0	0	0.184627	0	0
PGBD1	84547	broad.mit.edu	37	6	28264697	28264697	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264697G>C	ENST00000405948.2	+	5	1167	c.747G>C	c.(745-747)gaG>gaC	p.E249D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E249D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	249					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.E249D(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGCTCAGGAGACAGTTATGA	0.567000													9	47					0	0	0.307466	0	0
UBA6	55236	broad.mit.edu	37	4	68506908	68506908	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:68506908G>A	ENST00000322244.4	-	18	1574	c.1515C>T	c.(1513-1515)aaC>aaT	p.N505N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	505					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.N505N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTCTATTTAAGTTGGATTTCT	0.279000													69	136					0	0	0.870114	0	0
RETSAT	54884	broad.mit.edu	37	2	85570424	85570424	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:85570424A>C	ENST00000295802.4	-	11	1886	c.1774T>G	c.(1774-1776)Ttg>Gtg	p.L592V	RETSAT_ENST00000457495.2_Missense_Mutation_p.L531V|RETSAT_ENST00000263854.6_3'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	592					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.L592V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TCTGAGTACAAGTTCCGCTTC	0.537000													20	43					0	0	0.592651	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108420	64108420	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:64108420T>G	ENST00000356786.5	+	3	292	c.248T>G	c.(247-249)cTt>cGt	p.L83R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	83					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.L83R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCAGAGGCCTTGACGGACCT	0.667000													21	89					0	0	0.693898	0	0
FAM214A	56204	broad.mit.edu	37	15	52874472	52874472	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:52874472A>T	ENST00000261844.7	-	13	3262	c.3110T>A	c.(3109-3111)cTc>cAc	p.L1037H	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.L1044H	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1037								p.L1037H(1)									GTCTCTATGGAGGTAGATCTT	0.358000													12	18					0	0	0.479597	0	0
ZMYND11	10771	broad.mit.edu	37	10	255922	255922	+	Silent	SNP	A	A	T	rs138135446	byFrequency	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:255922A>T	ENST00000309776.4	+	3	638	c.90A>T	c.(88-90)acA>acT	p.T30T	ZMYND11_ENST00000397959.3_Silent_p.T70T|ZMYND11_ENST00000381584.1_Silent_p.T53T|ZMYND11_ENST00000402736.1_Silent_p.T70T|ZMYND11_ENST00000602682.1_Silent_p.T70T|ZMYND11_ENST00000381607.4_Silent_p.T30T|ZMYND11_ENST00000509513.2_Silent_p.T70T|ZMYND11_ENST00000558098.2_Silent_p.T70T|ZMYND11_ENST00000403354.1_Silent_p.T70T|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000545619.1_Silent_p.T30T|ZMYND11_ENST00000381591.1_Silent_p.T70T|ZMYND11_ENST00000381604.4_Silent_p.T30T|ZMYND11_ENST00000381602.4_Silent_p.T30T|ZMYND11_ENST00000397962.3_Silent_p.T70T	NM_001202466.1|NM_006624.5	NP_001189395.1|NP_006615.2	Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	30					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T70T(2)|p.T30T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AAACTCTAACAGTGGGCTGCA	0.418000													45	97					0	0	0.864702	0	0
PSG2	5670	broad.mit.edu	37	19	43576051	43576051	+	Missense_Mutation	SNP	A	A	C	rs1058095		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:43576051A>C	ENST00000406487.1	-	4	863	c.765T>G	c.(763-765)gaT>gaG	p.D255E		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	255	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.D255E(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				AGTAGAGGTTATCTCCTGAAC	0.458000													62	47					0	0	0.870114	0	0
SPHK2	56848	broad.mit.edu	37	19	49132515	49132515	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:49132515T>C	ENST00000443164.1	+	5	2341	c.1636T>C	c.(1636-1638)Tca>Cca	p.S546P	SPHK2_ENST00000599029.1_Missense_Mutation_p.S448P|SPHK2_ENST00000599748.1_Missense_Mutation_p.S448P|SPHK2_ENST00000600537.1_Missense_Mutation_p.S425P|SPHK2_ENST00000598088.1_Missense_Mutation_p.S484P|SPHK2_ENST00000245222.4_Missense_Mutation_p.S484P|SPHK2_ENST00000340932.3_Missense_Mutation_p.S446P			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	484					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	p.S484P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGCTCTACACTCACCCGTCTC	0.697000													8	91					0	0	0.361761	0	0
PABPC3	5042	broad.mit.edu	37	13	25670991	25670991	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:25670991A>G	ENST00000281589.3	+	1	692	c.655A>G	c.(655-657)Agt>Ggt	p.S219G		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	219	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.S219G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCCCGCCTTAAGTGTGAAAGT	0.418000													4	68					0	0	0.184627	0	0
BCOR	54880	broad.mit.edu	37	X	39921444	39921444	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:39921444T>C	ENST00000342274.4	-	10	4636	c.4274A>G	c.(4273-4275)aAt>aGt	p.N1425S	BCOR_ENST00000378444.4_Missense_Mutation_p.N1459S|BCOR_ENST00000397354.3_Missense_Mutation_p.N1425S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1407S|BCOR_ENST00000378463.1_Missense_Mutation_p.N302S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1459					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.N1425S(12)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGCGTTCTTATTGACAATAAG	0.647000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						7	14					0	0	0.248553	0	0
ZXDA	7789	broad.mit.edu	37	X	57935082	57935082	+	Silent	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:57935082G>T	ENST00000358697.4	-	1	1985	c.1773C>A	c.(1771-1773)acC>acA	p.T591T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	591	Required for transcriptional activation.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T591T(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						GTCTCTGGCTGGTAAGTTCAC	0.473000													24	75					2.79863e-10	2.90984e-10	0.681144	1	0
TBX4	9496	broad.mit.edu	37	17	59543207	59543207	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:59543207A>C	ENST00000393853.4	+	4	472	c.309A>C	c.(307-309)aaA>aaC	p.K103N	TBX4_ENST00000240335.1_Missense_Mutation_p.K103N			P57082	TBX4_HUMAN	T-box 4	103					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K103N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACAAGGTAAAAGTCACAGGCA	0.542000													15	66					0	0	0.479597	0	0
GALNS	2588	broad.mit.edu	37	16	88898418	88898418	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:88898418G>A	ENST00000268695.5	-	9	1078	c.990C>T	c.(988-990)gtC>gtT	p.V330V	GALNS_ENST00000542788.1_Silent_p.V255V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	330						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	p.V330V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGCCTGCAGTGACGTGCCCTG	0.677000													15	16					0	0	0.457914	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306126	58306126	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:58306126T>C	ENST00000249750.4	-	3	1060	c.293A>G	c.(292-294)gAt>gGt	p.D98G	ALDH1A2_ENST00000347587.3_Missense_Mutation_p.D98G|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.D2G|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.D77G|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.D69G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	98					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.D98G(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTCTGAAGCATCCATCCTTCT	0.483000													94	190					0	0	0.870114	0	0
ANKRD55	79722	broad.mit.edu	37	5	55422837	55422837	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:55422837T>G	ENST00000341048.4	-	8	860	c.709A>C	c.(709-711)Atc>Ctc	p.I237L	ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Missense_Mutation_p.I194L	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	236								p.I237L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GCCGCTGCGATATGTACACAT	0.502000													46	128					0	0	0.870114	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160237	61160237	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:61160237T>G	ENST00000382771.4	+	5	768	c.476T>G	c.(475-477)aTc>aGc	p.I159S	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I159S|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	159					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	p.I159S(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						CAGACCAAAATCCTTGTGGTT	0.388000													6	223					0	0	0.217242	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33091950	33091950	+	Missense_Mutation	SNP	T	T	G	rs138840363		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:33091950T>G	ENST00000267068.3	-	6	1905	c.1741A>C	c.(1741-1743)Aat>Cat	p.N581H	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000399396.3_Intron	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	581								p.N581H(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TAATGATTATTTGTGACACAG	0.408000													3	35					0	0	0.115264	0	0
TOB1	10140	broad.mit.edu	37	17	48941171	48941171	+	Nonsense_Mutation	SNP	G	G	A	rs142442521	by1000genomes	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:48941171G>A	ENST00000499247.2	-	2	641	c.208C>T	c.(208-210)Caa>Taa	p.Q70*	TOB1_ENST00000509385.1_5'UTR|TOB1_ENST00000268957.3_Nonsense_Mutation_p.Q70*	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	70					negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.Q70*(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTGGATGCTTGTTCAATCACT	0.428000													14	196					0	0	0.435327	0	0
MYO1C	4641	broad.mit.edu	37	17	1369047	1369047	+	Splice_Site	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:1369047C>T	ENST00000359786.5	-	32	3490		c.e32-1		MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site|MYO1C_ENST00000575158.1_Splice_Site	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC						mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGGGCGACCTGTGGGGGCG	0.567000													26	40					0	0	0.706142	0	0
RELN	5649	broad.mit.edu	37	7	103202292	103202292	+	Silent	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:103202292T>G	ENST00000428762.1	-	35	5478	c.5319A>C	c.(5317-5319)tcA>tcC	p.S1773S	RELN_ENST00000343529.5_Silent_p.S1773S|RELN_ENST00000424685.2_Silent_p.S1773S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1773	EGF-like 4.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1773S(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCTCGTCCTGAGCACATCC	0.473000													15	29					0	0	0.520397	0	0
NCSTN	23385	broad.mit.edu	37	1	160318908	160318908	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:160318908A>G	ENST00000368063.1	+	4	530	c.250A>G	c.(250-252)Acc>Gcc	p.T84A	NCSTN_ENST00000294785.5_Missense_Mutation_p.T104A|NCSTN_ENST00000535857.1_Missense_Mutation_p.T104A|NCSTN_ENST00000392212.4_Missense_Mutation_p.T84A			Q92542	NICA_HUMAN	nicastrin	104					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.T104A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGCATTTTACCAGGTAAGA	0.473000													11	53					0	0	0.387290	0	0
DEFB125	245938	broad.mit.edu	37	20	76828	76828	+	Missense_Mutation	SNP	G	G	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr20:76828G>T	ENST00000382410.2	+	2	241	c.241G>T	c.(241-243)Gat>Tat	p.D81Y		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	81					defense response to bacterium	extracellular region		p.D81Y(1)		central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TATAACATTGGATTATAGTGA	0.368000													57	114					2.47907e-22	2.62982e-22	0.870114	1	0
DST	667	broad.mit.edu	37	6	56470190	56470190	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:56470190T>G	ENST00000370754.5	-	39	9136	c.9137A>C	c.(9136-9138)aAa>aCa	p.K3046T	DST_ENST00000361203.3_Missense_Mutation_p.K2868T|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.K2542T|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.K2868T|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.K2868T			Q03001	DYST_HUMAN	dystonin	2868					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTGTATTTTTACCAGGCAA	0.338000													3	87					0	0	0.150653	0	0
EFHB	151651	broad.mit.edu	37	3	19921190	19921190	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:19921190T>G	ENST00000295824.9	-	13	2596	c.2435A>C	c.(2434-2436)gAg>gCg	p.E812A	EFHB_ENST00000344838.4_Missense_Mutation_p.E682A	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	812					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.E810A(1)|p.E812A(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGATGTTCTCAACACAAAC	0.363000													33	98					0	0	0.769981	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224294	172224294	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:172224294A>C	ENST00000241261.2	-	5	956	c.834T>G	c.(832-834)ttT>ttG	p.F278L	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	278					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.F278L(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGCCAACTAAAAAGGCCCCAA	0.363000													4	75					0	0	0.150653	0	0
PGBD1	84547	broad.mit.edu	37	6	28265744	28265744	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28265744G>C	ENST00000405948.2	+	6	1265	c.845G>C	c.(844-846)gGa>gCa	p.G282A	PGBD1_ENST00000259883.3_Missense_Mutation_p.G282A	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	282					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G282A(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAACAAAGTGGAGAAGCCTCA	0.353000													13	53					0	0	0.457914	0	0
PARP3	10039	broad.mit.edu	37	3	51978834	51978834	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:51978834A>T	ENST00000417220.2	+	6	1030	c.542A>T	c.(541-543)cAg>cTg	p.Q181L	PARP3_ENST00000398755.3_Missense_Mutation_p.Q188L|PARP3_ENST00000431474.1_Missense_Mutation_p.Q181L			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	181					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	p.Q188L(1)		ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGCGGGTGCAGCCCTGCTCC	0.602000													7	14					0	0	0.278610	0	0
WDR19	57728	broad.mit.edu	37	4	39201143	39201143	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:39201143A>C	ENST00000399820.3	+	6	606	c.452A>C	c.(451-453)aAt>aCt	p.N151T	WDR19_ENST00000506503.1_Missense_Mutation_p.N151T|WDR19_ENST00000288634.7_5'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	151					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	p.N151T(1)		large_intestine(1)	1						AATGCAGAAAATCTGCTTGCT	0.338000													14	48					0	0	0.500413	0	0
NCOR1	9611	broad.mit.edu	37	17	16062117	16062117	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:16062117T>C	ENST00000268712.3	-	6	946	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	NCOR1_ENST00000395848.1_Missense_Mutation_p.Q121R|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q230R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	230	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.Q230R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCGGTGTTTCTGCTCCACAGG	0.493000													3	58					0	0	0.150653	0	0
PCDHA4	56144	broad.mit.edu	37	5	140189052	140189052	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140189052T>C	ENST00000530339.1	+	1	2280	c.2280T>C	c.(2278-2280)tcT>tcC	p.S760S	PCDHA4_ENST00000512229.2_Silent_p.S760S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S760S|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1												p.S760S(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGTGCTCTGGTGAGGGCC	0.632000													4	104					0	0	0.184627	0	0
ZNF391	346157	broad.mit.edu	37	6	27368305	27368305	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:27368305A>C	ENST00000244576.4	+	3	701	c.156A>C	c.(154-156)gaA>gaC	p.E52D		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E52D(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CACTCAAAGAAATTTTCACAG	0.423000													32	64					0	0	0.750413	0	0
SRBD1	55133	broad.mit.edu	37	2	45778344	45778344	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:45778344C>T	ENST00000263736.4	-	12	1657	c.1595G>A	c.(1594-1596)aGc>aAc	p.S532N	SRBD1_ENST00000535761.1_Missense_Mutation_p.S51N	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	532					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	p.S532N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGGAACAGGGCTTGTTAAAAG	0.393000													5	43					0	0	0.184627	0	0
NCOR1	9611	broad.mit.edu	37	17	15938112	15938112	+	Missense_Mutation	SNP	C	C	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:15938112C>G	ENST00000268712.3	-	45	7359	c.7102G>C	c.(7102-7104)Ggg>Cgg	p.G2368R	NCOR1_ENST00000395857.3_Missense_Mutation_p.G952R|NCOR1_ENST00000395851.1_Missense_Mutation_p.G2265R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2368	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.G2368R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGCCCACCCTGGCGTCTGC	0.468000													5	110					0	0	0.184627	0	0
CYLD	1540	broad.mit.edu	37	16	50783950	50783950	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:50783950A>C	ENST00000540145.1	+	4	756	c.341A>C	c.(340-342)aAa>aCa	p.K114T	CYLD_ENST00000311559.9_Missense_Mutation_p.K114T|CYLD_ENST00000569418.1_Missense_Mutation_p.K114T|CYLD_ENST00000427738.3_Missense_Mutation_p.K114T|CYLD_ENST00000568704.2_Missense_Mutation_p.K114T|CYLD_ENST00000566206.1_Missense_Mutation_p.K114T|CYLD_ENST00000564326.1_Missense_Mutation_p.K114T|CYLD_ENST00000398568.2_Missense_Mutation_p.K114T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	114	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.K114T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AGCCTGTTTAAAAACAGAAAC	0.403000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				8	128					0	0	0.278610	0	0
PGBD1	84547	broad.mit.edu	37	6	28264610	28264610	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:28264610G>A	ENST00000405948.2	+	5	1080	c.660G>A	c.(658-660)gaG>gaA	p.E220E	PGBD1_ENST00000259883.3_Silent_p.E220E	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	220					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.E220E(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGAAGACTGAGGAAGAAACAG	0.468000													13	68					0	0	0.435327	0	0
FUT7	2529	broad.mit.edu	37	9	139925457	139925457	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:139925457G>A	ENST00000314412.6	-	2	1752	c.734C>T	c.(733-735)gCa>gTa	p.A245V	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	245					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.A245V(1)		NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		AGCCACCAGTGCGTTGCGCCA	0.627000													34	87					0	0	0.779181	0	0
TDP2	51567	broad.mit.edu	37	6	24651080	24651080	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:24651080A>G	ENST00000341060.3	-	6	1246	c.851T>C	c.(850-852)cTg>cCg	p.L284P	TDP2_ENST00000545995.1_Missense_Mutation_p.L372P|TDP2_ENST00000378198.4_Missense_Mutation_p.L342P			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	342					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity	p.L342P(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						ACCACAGTCCAGTTTTTCTAA	0.403000								Direct reversal of damage					22	52					0	0	0.639603	0	0
KMT2E	55904	broad.mit.edu	37	7	104749673	104749673	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:104749673A>G	ENST00000334877.4	+	23	4287	c.3753A>G	c.(3751-3753)caA>caG	p.Q1251Q	KMT2E_ENST00000257745.4_Silent_p.Q1251Q|KMT2E_ENST00000334914.7_Silent_p.Q306Q|KMT2E_ENST00000311117.3_Silent_p.Q1251Q					lysine (K)-specific methyltransferase 2E									p.Q1251Q(1)									CAGAAGTTCAATGGTAAGCCC	0.398000													8	13					0	0	0.307466	0	0
ANKFN1	162282	broad.mit.edu	37	17	54517778	54517778	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:54517778T>C	ENST00000566473.2	+	8	1010	c.1010T>C	c.(1009-1011)cTt>cCt	p.L337P	ANKFN1_ENST00000318698.2_Missense_Mutation_p.L337P			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	337	Fibronectin type-III.							p.L337P(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATCACAGGACTTACAATGGTA	0.428000													4	81					0	0	0.150653	0	0
KRR1	11103	broad.mit.edu	37	12	75897801	75897801	+	Missense_Mutation	SNP	A	A	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:75897801A>T	ENST00000229214.4	-	7	737	c.714T>A	c.(712-714)agT>agA	p.S238R	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	238					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding	p.S238R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						ATCTCTCCCAACTTTGTGATC	0.343000													8	124					0	0	0.278610	0	0
UTP20	27340	broad.mit.edu	37	12	101723073	101723073	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:101723073T>G	ENST00000261637.4	+	27	3437	c.3263T>G	c.(3262-3264)gTt>gGt	p.V1088G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1088					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.V1088G(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTCTAAAGTTCTTCCTTTA	0.413000													8	100					0	0	0.278610	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529864	140529864	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140529864A>C	ENST00000231136.1	+	1	26	c.26A>C	c.(25-27)aAg>aCg	p.K9T	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.K9T(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTACAGAACAAGAAAAGGCAA	0.433000													4	159					0	0	0.150653	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209755	140209755	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:140209755G>A	ENST00000529310.1	+	1	2193	c.2079G>A	c.(2077-2079)ctG>ctA	p.L693L	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.L693L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGGCGCTGGTGGATGTCA	0.677000													42	31					0	0	0.834066	0	0
OR4A5	81318	broad.mit.edu	37	11	51412305	51412305	+	Missense_Mutation	SNP	G	G	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:51412305G>C	ENST00000319760.6	-	1	143	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L31V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAGTATGTGAGTAAAAACATG	0.428000													19	39					0	0	0.539581	0	0
DSG4	147409	broad.mit.edu	37	18	28979256	28979256	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:28979256C>T	ENST00000359747.4	+	9	1056	c.1027C>T	c.(1027-1029)Cct>Tct	p.P343S	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P343S|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	343	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P343S(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAACAAGCACCTAACATTCA	0.373000													30	71					0	0	0.729181	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	19					0	0	0.115264	0	0
TNRC6A	27327	broad.mit.edu	37	16	24800787	24800787	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:24800787A>C	ENST00000395799.3	+	6	953	c.824A>C	c.(823-825)aAc>aCc	p.N275T	TNRC6A_ENST00000315183.7_Missense_Mutation_p.N275T	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	275	Ser-rich.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	p.N275T(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCTTCAGGGAACACAGGTGGT	0.483000													4	102					0	0	0.150653	0	0
TRERF1	55809	broad.mit.edu	37	6	42231109	42231109	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:42231109G>A	ENST00000541110.1	-	8	2401	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TRERF1_ENST00000372922.4_Silent_p.S611S|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000340840.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	611	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.S611S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGTCTCTGGCGGAGGGGGCGG	0.657000													5	82					0	0	0.184627	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99337939	99337939	+	Silent	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:99337939T>C	ENST00000408927.3	+	8	920	c.807T>C	c.(805-807)tgT>tgC	p.C269C	RAP1GDS1_ENST00000453712.2_Silent_p.C270C|RAP1GDS1_ENST00000408900.3_Silent_p.C220C|RAP1GDS1_ENST00000264572.7_Silent_p.C178C|RAP1GDS1_ENST00000380158.4_Silent_p.C221C|RAP1GDS1_ENST00000339360.5_Silent_p.C270C	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	269							binding|GTPase activator activity	p.C270C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TAGTAGAGTGTCTACTAGAGA	0.363000			T	NUP98	T-ALL								24	67					0	0	0.624587	0	0
ANTXR1	84168	broad.mit.edu	37	2	69330049	69330049	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:69330049A>C	ENST00000303714.4	+	10	1101	c.779A>C	c.(778-780)aAg>aCg	p.K260T	ANTXR1_ENST00000409829.3_Missense_Mutation_p.K260T|ANTXR1_ENST00000409349.3_Missense_Mutation_p.K260T	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	260					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity	p.K260T(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGCAGCTTCAAGATCAATGAC	0.493000									Familial Infantile Hemangioma				61	130					0	0	0.870114	0	0
GALNT12	79695	broad.mit.edu	37	9	101594148	101594148	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:101594148A>C	ENST00000375011.3	+	4	826	c.826A>C	c.(826-828)Atc>Ctc	p.I276L		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	276						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I276L(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GGAGCCCCAGATCGGCGGTTT	0.577000													7	13					0	0	0.278610	0	0
SP1	6667	broad.mit.edu	37	12	53805023	53805023	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:53805023G>A	ENST00000426431.2	+	6	2396	c.2336G>A	c.(2335-2337)tGa>tAa	p.*779*	SP1_ENST00000327443.4_Silent_p.*786*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	0	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.*786*(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		AATGGCTTCTGAGATCAGGCA	0.552000													4	39					0	0	0.184627	0	0
BPHL	670	broad.mit.edu	37	6	3129325	3129325	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr6:3129325G>A	ENST00000380368.2	+	5	1018	c.374G>A	c.(373-375)gGc>gAc	p.G125D	BPHL_ENST00000434640.1_Missense_Mutation_p.G125D|BPHL_ENST00000380379.5_Missense_Mutation_p.G142D|BPHL_ENST00000380375.3_Missense_Mutation_p.G125D			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	142					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	p.G125D(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				AGTGATGGGGGCATAACCGCA	0.488000													4	91					0	0	0.150653	0	0
LCT	3938	broad.mit.edu	37	2	136581471	136581471	+	Splice_Site	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:136581471C>T	ENST00000264162.2	-	4	917	c.907_splice	c.e4+1	p.A303_splice		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	303	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A303T(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCCACTCACCTTCAAAAAGG	0.502000													9	32					0	0	0.361761	0	0
PNPLA8	50640	broad.mit.edu	37	7	108137971	108137971	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:108137971T>G	ENST00000426128.2	-	5	1534	c.1409A>C	c.(1408-1410)aAg>aCg	p.K470T	PNPLA8_ENST00000453144.1_Missense_Mutation_p.K370T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.K470T|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000388728.5_Missense_Mutation_p.K470T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.K470T|PNPLA8_ENST00000436062.1_Missense_Mutation_p.K470T	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	470	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.K470T(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATGAACTGGCTTCTGAGTAAG	0.363000													9	44					0	0	0.335167	0	0
GAS7	8522	broad.mit.edu	37	17	9828912	9828912	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:9828912C>T	ENST00000396115.1	-	11	1149	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	GAS7_ENST00000323816.4_Missense_Mutation_p.R276Q|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000432992.2_Missense_Mutation_p.R340Q|GAS7_ENST00000542249.1_Missense_Mutation_p.R285Q|GAS7_ENST00000580865.1_Missense_Mutation_p.R200Q|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.R276Q|GAS7_ENST00000579158.1_Missense_Mutation_p.R292Q|GAS7_ENST00000585266.1_Missense_Mutation_p.R276Q	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	340	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.R340Q(2)|p.R200Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAGGGCTTTCCGGGCCTGGGG	0.617000			T	MLL	AML*								24	16					0	0	0.639603	0	0
CERKL	375298	broad.mit.edu	37	2	182403906	182403906	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:182403906T>G	ENST00000410087.3	-	12	1551	c.1451A>C	c.(1450-1452)gAg>gCg	p.E484A	CERKL_ENST00000339098.5_Missense_Mutation_p.E510A|CERKL_ENST00000374969.2_Missense_Mutation_p.E371A|CERKL_ENST00000374970.2_Missense_Mutation_p.E415A|CERKL_ENST00000409440.3_Missense_Mutation_p.E466A	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	510					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.E484A(1)|p.E510A(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCCTCCTCCTCCTCTGGATT	0.353000													33	49					0	0	0.740014	0	0
TTLL7	79739	broad.mit.edu	37	1	84415658	84415658	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:84415658T>C	ENST00000260505.8	-	4	546	c.169A>G	c.(169-171)Ata>Gta	p.I57V	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	57	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.I57V(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ATTTCATCTATTACTAAACGA	0.308000													12	18					0	0	0.387290	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548004	47548004	+	Splice_Site	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:47548004A>C	ENST00000334194.3	+	4	367		c.e4-1			NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1							endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.?(1)		cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TCATTTCATAAGGTCGAGGAC	0.448000													10	35					0	0	0.387290	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739364	15739364	+	RNA	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:15739364T>G	ENST00000441682.2	+	0	1334							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.F424V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CATCAACATCTTCGCAATCCA	0.622000													30	206					0	0	0.760397	0	0
GFAP	2670	broad.mit.edu	37	17	42988815	42988815	+	Silent	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr17:42988815G>A	ENST00000253408.5	-	6	981	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Silent_p.L306L|GFAP_ENST00000586793.1_Silent_p.L306L	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	306	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.L306L(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGCCTCTCCAGGGACTCGTTC	0.726000													12	40					0	0	0.411799	0	0
TTN	7273	broad.mit.edu	37	2	179572258	179572258	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:179572258A>C	ENST00000589042.1	-	100	29260	c.29036T>G	c.(29035-29037)aTt>aGt	p.I9679S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9362S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8435S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9362	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I8435S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTACCTTTAATGGTCACTTT	0.383000													11	17					0	0	0.387290	0	0
ATRX	546	broad.mit.edu	37	X	76872168	76872168	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chrX:76872168A>G	ENST00000373344.5	-	22	5693	c.5479T>C	c.(5479-5481)Ttg>Ctg	p.L1827L	ATRX_ENST00000395603.3_Silent_p.L1789L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1827					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.L1827L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTGGAGGCAAGAATTTTGTT	0.313000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						5	79					0	0	0.184627	0	0
FAM21C	253725	broad.mit.edu	37	10	46261127	46261127	+	Splice_Site	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr10:46261127G>A	ENST00000336378.4	+	19	1856	c.1737_splice	c.e19-1	p.D580_splice	FAM21C_ENST00000540872.1_Splice_Site_p.D580_splice|FAM21C_ENST00000537517.1_Splice_Site_p.D556_splice|FAM21C_ENST00000359860.4_Splice_Site_p.D524_splice|FAM21C_ENST00000374362.2_Splice_Site_p.D580_splice	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	580								p.D579N(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTTTTCTAGGATAATCTTTT	0.403000													44	88					0	0	0.870114	0	0
CCDC24	149473	broad.mit.edu	37	1	44461327	44461327	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:44461327G>A	ENST00000372318.3	+	7	778	c.607G>A	c.(607-609)Gag>Aag	p.E203K	CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	203								p.E203K(1)		endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCAGCCCTGGAGCCCACCCT	0.647000													5	6					0	0	0.184627	0	0
CACNA1B	774	broad.mit.edu	37	9	140811791	140811791	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr9:140811791T>G	ENST00000371372.1	+	6	1019	c.874T>G	c.(874-876)Ttt>Gtt	p.F292V	CACNA1B_ENST00000277551.2_Missense_Mutation_p.F292V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F292V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.F292V|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	292					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.F292V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGACCCAACTTTGGCATCAC	0.582000													14	62					0	0	0.435327	0	0
MICAL3	57553	broad.mit.edu	37	22	18389374	18389374	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr22:18389374A>C	ENST00000441493.2	-	2	557	c.205T>G	c.(205-207)Ttg>Gtg	p.L69V	MICAL3_ENST00000585038.1_Missense_Mutation_p.L69V|MICAL3_ENST00000400561.2_Missense_Mutation_p.L69V|MICAL3_ENST00000383094.3_Missense_Mutation_p.L69V|MICAL3_ENST00000207726.7_Missense_Mutation_p.L69V|MICAL3_ENST00000444520.1_Missense_Mutation_p.L69V|MICAL3_ENST00000414725.2_Missense_Mutation_p.L69V|MICAL3_ENST00000429452.1_Missense_Mutation_p.L69V	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	69						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L69V(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGTTTGTCCAATTTTGCCCAG	0.502000													53	109					0	0	0.870114	0	0
EXOC1	55763	broad.mit.edu	37	4	56724547	56724547	+	Silent	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:56724547C>T	ENST00000381295.2	+	2	406	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	EXOC1_ENST00000349598.6_Silent_p.L20L|EXOC1_ENST00000346134.7_Silent_p.L20L	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	20					exocytosis|protein transport	exocyst	protein binding	p.L20L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGATGAACGCCTGCTGAGCAT	0.363000													44	83					0	0	0.870114	0	0
UBR5	51366	broad.mit.edu	37	8	103324705	103324705	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr8:103324705T>G	ENST00000520539.1	-	17	2622	c.2016A>C	c.(2014-2016)aaA>aaC	p.K672N	UBR5_ENST00000220959.4_Missense_Mutation_p.K672N|UBR5_ENST00000521922.1_Missense_Mutation_p.K666N	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	672					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.K672N(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACCATCTACTTTTAGCACCT	0.368000													35	73					0	0	0.853193	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025897	129025897	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:129025897A>G	ENST00000259241.6	-	2	1088	c.1075T>C	c.(1075-1077)Tac>Cac	p.Y359H		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	359					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.Y359H(1)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTACTGGTAGCGCTGCTGG	0.662000													18	54					0	0	0.557998	0	0
SSPO	23145	broad.mit.edu	37	7	149492740	149492740	+	RNA	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:149492740T>G	ENST00000378016.2	+	0	6520							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGGCATCTTGCCCCTGCC	0.592000													63	111					0	0	0.870114	0	0
RPLP2	6181	broad.mit.edu	37	11	812597	812597	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:812597T>C	ENST00000321153.4	+	4	629	c.235T>C	c.(235-237)Tct>Cct	p.S79P	RPLP2_ENST00000532004.1_3'UTR|RPLP2_ENST00000530797.1_Missense_Mutation_p.S79P	NM_001004.3	NP_000995.1	P05387	RLA2_HUMAN	ribosomal protein, large, P2	79					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.S79P(1)		lung(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCCCCAGGCTCTGCAGCCCC	0.637000													7	32					0	0	0.361761	0	0
HEATR1	55127	broad.mit.edu	37	1	236737633	236737633	+	Splice_Site	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:236737633T>C	ENST00000366582.3	-	24	3442	c.3327_splice	c.e24-1	p.I1110_splice	HEATR1_ENST00000366581.2_Splice_Site_p.I1029_splice	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1110					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.I1110V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTTTTGTAATCTAGAGGGGG	0.318000													80	56					0	0	0.870114	0	0
NMUR2	56923	broad.mit.edu	37	5	151784142	151784142	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr5:151784142G>A	ENST00000255262.3	-	1	698	c.533C>T	c.(532-534)tCc>tTc	p.S178F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	178					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.S178F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTTGGGCAGGGAGAAGAGCAC	0.627000													31	77					0	0	0.717897	0	0
ATM	472	broad.mit.edu	37	11	108236087	108236087	+	Missense_Mutation	SNP	G	G	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:108236087G>A	ENST00000278616.4	+	63	9408	c.9023G>A	c.(9022-9024)cGt>cAt	p.R3008H	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.R3008H|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	3008			R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).|R -> H (in B-cell chronic lymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.R3008H(6)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|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)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAGCTGAACGTGTCTTAATG	0.413000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			22	71					0	0	0.624587	0	0
TRIM29	23650	broad.mit.edu	37	11	119996453	119996453	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:119996453T>G	ENST00000341846.5	-	4	1700	c.1279A>C	c.(1279-1281)Atg>Ctg	p.M427L	TRIM29_ENST00000529044.1_Missense_Mutation_p.M166L|TRIM29_ENST00000541857.1_Missense_Mutation_p.M160L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	427					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M427L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCTTGCACATCTTCTCAACG	0.577000													8	44					0	0	0.307466	0	0
C1orf112	55732	broad.mit.edu	37	1	169816858	169816858	+	Missense_Mutation	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:169816858A>G	ENST00000286031.6	+	20	2672	c.1972A>G	c.(1972-1974)Aaa>Gaa	p.K658E	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.K658E	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	658								p.K658E(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCGCTACTTAAATTAGAGCT	0.353000													13	284					0	0	0.457914	0	0
TIAM1	7074	broad.mit.edu	37	21	32492740	32492740	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr21:32492740A>C	ENST00000286827.3	-	29	5193	c.4722T>G	c.(4720-4722)atT>atG	p.I1574M	TIAM1_ENST00000541036.1_Missense_Mutation_p.I1514M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1574					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.I1574M(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTAACCCAAATGACTTCCT	0.562000													11	25					0	0	0.435327	0	0
SLC6A12	6539	broad.mit.edu	37	12	301809	301809	+	Silent	SNP	A	A	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:301809A>G	ENST00000428720.1	-	15	2279	c.1536T>C	c.(1534-1536)acT>acC	p.T512T	SLC6A12_ENST00000424061.2_Silent_p.T512T|SLC6A12_ENST00000397296.2_Silent_p.T512T|SLC6A12_ENST00000536824.1_Silent_p.T512T|SLC6A12_ENST00000359674.4_Silent_p.T512T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	512					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.T512T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGAAGAGGAAAGTGGCCTGGG	0.567000													18	46					0	0	0.520397	0	0
ADCK3	56997	broad.mit.edu	37	1	227169734	227169734	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:227169734A>C	ENST00000366779.1	+	11	3508	c.737A>C	c.(736-738)aAg>aCg	p.K246T	ADCK3_ENST00000366778.1_Missense_Mutation_p.K194T|ADCK3_ENST00000366775.1_Missense_Mutation_p.K91T|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Missense_Mutation_p.K246T|ADCK3_ENST00000366776.1_Missense_Mutation_p.K171T|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000458507.2_5'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	246					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.K246T(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						ACAGGGAAGAAGGCCGTGCTG	0.652000													5	49					0	0	0.217242	0	0
CCDC109B	55013	broad.mit.edu	37	4	110606516	110606516	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:110606516T>G	ENST00000394650.4	+	7	1059	c.926T>G	c.(925-927)cTt>cGt	p.L309R		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	309						integral to membrane		p.L221R(1)|p.L309R(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAAGAAGACCTTGCTAAGGTA	0.378000													12	36					0	0	0.411799	0	0
USP12	219333	broad.mit.edu	37	13	27690659	27690659	+	Missense_Mutation	SNP	T	T	A			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:27690659T>A	ENST00000282344.6	-	2	379	c.123A>T	c.(121-123)ttA>ttT	p.L41F		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	41					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L41F(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTACATTGACTAATCCAAAAT	0.343000													15	28					0	0	0.479597	0	0
EPG5	57724	broad.mit.edu	37	18	43462310	43462310	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr18:43462310T>G	ENST00000282041.5	-	31	5481	c.5447A>C	c.(5446-5448)aAg>aCg	p.K1816T	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1816					autophagy			p.K1816T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AGTCCAGTGCTTACAGAAAAG	0.423000													22	39					0	0	0.639603	0	0
RBAK	57786	broad.mit.edu	37	7	5103663	5103663	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr7:5103663A>C	ENST00000396912.1	+	5	1095	c.576A>C	c.(574-576)gaA>gaC	p.E192D	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E192D|RBAK_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	192	Required for interaction with RB1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E192D(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		ACAATGAAGAAAATATTCTTC	0.333000													3	68					0	0	0.115264	0	0
KIFAP3	22920	broad.mit.edu	37	1	170003573	170003573	+	Missense_Mutation	SNP	C	C	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:170003573C>T	ENST00000367765.1	-	7	2063	c.562G>A	c.(562-564)Gat>Aat	p.D188N	KIFAP3_ENST00000538366.1_Missense_Mutation_p.D150N|KIFAP3_ENST00000367767.1_Missense_Mutation_p.D184N|KIFAP3_ENST00000361580.2_Missense_Mutation_p.D228N	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	228					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.D228N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACTCATGATCAATAATATTC	0.303000													19	82					0	0	0.575678	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157638	65157638	+	Missense_Mutation	SNP	T	T	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr15:65157638T>C	ENST00000323544.4	+	6	1152	c.1024T>C	c.(1024-1026)Tca>Cca	p.S342P	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	342	Pro-rich.							p.S342P(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTGCAGGTCTCAGTGAATGG	0.577000													3	32					0	0	0.115264	0	0
COPB1	1315	broad.mit.edu	37	11	14512166	14512166	+	Missense_Mutation	SNP	T	T	G			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr11:14512166T>G	ENST00000249923.3	-	5	851	c.551A>C	c.(550-552)gAg>gCg	p.E184A	COPB1_ENST00000439561.2_Missense_Mutation_p.E184A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	184					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity	p.E184A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCATCCTTCTCATTCACCAG	0.308000													3	60					0	0	0.184627	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420361	105420361	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr12:105420361A>C	ENST00000258494.9	-	22	2818	c.2678T>G	c.(2677-2679)tTt>tGt	p.F893C	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	893	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.F893C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						AACTCCGCCAAATGGGGCCGC	0.393000													30	89					0	0	0.729181	0	0
ACAD11	84129	broad.mit.edu	37	3	132360968	132360968	+	Missense_Mutation	SNP	A	A	C			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:132360968A>C	ENST00000264990.6	-	4	1356	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	ACAD11_ENST00000355458.3_Missense_Mutation_p.F129V|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000481970.2_Missense_Mutation_p.F129V	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11									p.F129V(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						AAATCACGGAAGATTCGACCC	0.353000													20	55					0	0	0.654019	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr1:74575212_74575213insT	ENST00000354431.4	-	5	923_924	c.732_733insA	c.(730-735)aaagcafs	p.A245fs	LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													8	90	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219900304	219900305	+	In_Frame_Ins	INS	-	-	CCT			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr2:219900304_219900305insCCT	ENST00000341552.5	-	5	522_523	c.439_440insAGG	c.(439-441)ggc>AGGggc	p.146_147insR	CCDC108_ENST00000410037.1_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000409865.3_In_Frame_Ins_p.135_136insR|CCDC108_ENST00000324264.6_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000295729.2_In_Frame_Ins_p.81_82insR|CCDC108_ENST00000441968.1_In_Frame_Ins_p.146_147insR|CCDC108_ENST00000453220.1_In_Frame_Ins_p.146_147insR	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	146						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCAGCCACCTCAATGCCC	0.525													40	90	---	---	---	---					
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294													3	6	---	---	---	---					
OTOP1	133060	broad.mit.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs111245977		TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)del	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development	extracellular space|integral to membrane		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727													4	8	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	4	---	---	---	---					
NPIPA8	101059953	broad.mit.edu	37	16	18441114	18441116	+	Splice_Site	DEL	CAC	CAC	-			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr16:18441114_18441116delCAC	ENST00000339303.5	-	1	15		c.e1+1							nuclear pore complex interacting protein family, member A8																		CGGCCATACTCACCACTGGGACT	0.709													6	13	---	---	---	---					
AKAP8L	26993	broad.mit.edu	37	19	15491175	15491175	+	Frame_Shift_Del	DEL	G	G	-			TCGA-67-6215-01A-11D-1753-08	TCGA-67-6215-10A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68c2a355-862c-4657-b296-5776ed8447b0	1d5b64bd-f901-4f03-95c8-db234cd459fd	g.chr19:15491175delG	ENST00000397410.4	-	14	1763	c.1699delC	c.(1699-1701)tgfs	p.L567fs	AKAP8L_ENST00000595465.1_Frame_Shift_Del_p.L506fs|AC005785.2_ENST00000597164.1_RNA	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	567				EEEKEQEEAEGGALDEGAQGEAAGISEGAEGVPAQPPVPPE PA -> RRRRSRRRLRAVPWTRGRRAKRQGFRRAQRACRRS LPCPQSQP (in Ref. 3; AAF86048).		cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCCTCGTCCAGGGCACCGCCC	0.741													2	4	---	---	---	---					
