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
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716000													3	25					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712441	140712441	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1												p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662000													43	74					0	0	1	0	0
ODF3L1	161753	broad.mit.edu	37	15	76018478	76018478	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:76018478G>A	ENST00000332145.2	+	3	532	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	103										kidney(1)|lung(1)	2						CCAGCTGCCCGCAGGTCCCCA	0.592000													9	14					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56190168	56190168	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:56190168A>G	ENST00000411543.2	+	3	1055	c.508A>G	c.(508-510)Atg>Gtg	p.M170V	EPN1_ENST00000270460.6_Missense_Mutation_p.M59V|EPN1_ENST00000085079.7_Missense_Mutation_p.M59V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	59					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GATCATGAGCATGATCTGGAA	0.592000													13	50					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	977319	977319	+	Silent	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:977319A>G	ENST00000537687.1	+	9	3070	c.2427A>G	c.(2425-2427)gtA>gtG	p.V809V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGTAGAGTAACTGGAGAGT	0.478000													19	37					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			207	2919					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27169602	27169602	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:27169602G>A	ENST00000380036.4	+	4	1045	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TEK_ENST00000406359.4_Silent_p.S201S|TEK_ENST00000519097.1_Silent_p.S97S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S201S(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTCACCTCGGCCTTCACCA	0.473000													41	20					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538446	39538446	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:39538446G>A	ENST00000394001.1	-	1	209	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	60	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGGCCGGGAGGAGCAGCT	0.627000													27	57					0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121429423	121429423	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:121429423G>A	ENST00000369085.3	+	2	547	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	81					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCCTGCTAGGGAAGGCCACCC	0.572000													42	25					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57347157	57347157	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:57347157C>T	ENST00000361249.3	+	5	600	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	168	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGAGTGTGTACGATGCCAGTT	0.473000													41	60					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500730	179500730	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:179500730G>A	ENST00000589042.1	-	226	41792	c.41568C>T	c.(41566-41568)aaC>aaT	p.N13856N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N4983N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN_ENST00000460472.2_Silent_p.N4791N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.N11288N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N12215N|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12215							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			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)			GGTTGTTGGCGTTTTCCACAG	0.453000													24	58					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702729	154702729	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:154702729G>A	ENST00000274063.4	-	3	1046	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	254	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GATAGGGCGCGTTGATGTCGT	0.557000													27	34					0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163030242	163030242	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:163030242C>G	ENST00000188790.4	-	23	2232	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	FAP_ENST00000443424.1_Missense_Mutation_p.E650D	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	675					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCTTATAGTGCTCAAGATTAT	0.299000													59	91					0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	86153116	86153116	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:86153116C>T	ENST00000304195.3	-	1	237	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	11						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GTCCTCCTGCCTCTCGGCACA	0.652000													4	7					0	0	1	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76621051	76621051	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:76621051C>T	ENST00000261530.7	+	2	411	c.345C>T	c.(343-345)gaC>gaT	p.D115D	GPATCH2L_ENST00000556663.1_Silent_p.D115D|GPATCH2L_ENST00000557263.1_Silent_p.D115D|GPATCH2L_ENST00000312858.5_Silent_p.D115D	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		ATGAATCTGACTCCTTTACTG	0.493000													28	36					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029011	219029011	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:219029011G>A	ENST00000295683.2	-	2	1044	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	308					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AATTTTGGCCGATGAAGGCGT	0.537000													5	70					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758395	111758395	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:111758395C>T	ENST00000261726.6	+	17	2736	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGGCCGAGGCGGGCGCGCGG	0.746000													4	2					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444725	61444725	+	Silent	SNP	G	G	A	rs74520364		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:61444725G>A	ENST00000370461.1	+	5	3879	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	OGFR_ENST00000290291.6_Silent_p.P586P			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	586	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GCCCCAGCCCGGCAGGACCTA	0.741000													3	18					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	rs143763173		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612000													5	167					0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36959088	36959088	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:36959088C>T	ENST00000225428.5	-	9	1325	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TTGCCGTTTTCGCTCTAATTC	0.483000													30	48					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927095	130927095	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:130927095A>T	ENST00000261655.4	-	8	914	c.751T>A	c.(751-753)Ttc>Atc	p.F251I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGTTGATGAAGTTCTGATCC	0.607000													8	82					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58545427	58545427	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:58545427G>A	ENST00000394282.4	+	16	1530	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	336					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CACCCACTCAGAGAGCAGCGA	0.682000													26	42					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313560	197313560	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:197313560A>C	ENST00000367400.3	+	3	937	c.802A>C	c.(802-804)Agt>Cgt	p.S268R	CRB1_ENST00000538660.1_Missense_Mutation_p.S268R|CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	268	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGTGTGCCAGTCAACCTTG	0.512000													52	101					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161015068	161015068	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:161015068A>G	ENST00000447678.1	-	23	3671	c.3551T>C	c.(3550-3552)gTc>gCc	p.V1184A	LPA_ENST00000316300.5_Missense_Mutation_p.V1184A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3692	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTCCTGTGACAGTGGTAGA	0.478000													4	100					0	0	1	0	0
BPHL	670	broad.mit.edu	37	6	3140630	3140630	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:3140630C>T	ENST00000380375.3	+	7	1268	c.624C>T	c.(622-624)tgC>tgT	p.C208C	RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000434640.1_Silent_p.C208C|BPHL_ENST00000380379.5_Silent_p.C225C|BPHL_ENST00000380368.2_3'UTR			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	225					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTAACATCTGCCGGCACCTGC	0.587000													51	97					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	692						integral to membrane	hedgehog receptor activity	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453000													10	9					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49934335	49934335	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:49934335G>A	ENST00000221485.3	-	11	1497	c.1326C>T	c.(1324-1326)aaC>aaT	p.N442N	SLC17A7_ENST00000543531.1_Silent_p.N430N|SLC17A7_ENST00000600601.1_Silent_p.N375N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	442					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622000													8	29					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700046	26700046	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:26700046C>T	ENST00000272371.2	-	21	2643	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000339598.3_Silent_p.A92A|OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000338581.6_Silent_p.A92A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTCGTCCGCCAGGAAGC	0.677000													8	5					0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33703560	33703560	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33703560G>T	ENST00000374492.3	-	11	1518	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	EDEM2_ENST00000374491.3_Nonsense_Mutation_p.Y434*|EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	471					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTTGAAGATGTACCCCCCAG	0.587000													22	66					4.35082e-09	4.55476e-09	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926951	43926951	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:43926951G>A	ENST00000537548.1	-	8	1529	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000372754.1_Missense_Mutation_p.R470W|MATN4_ENST00000360607.6_Missense_Mutation_p.R388W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W			O95460	MATN4_HUMAN	matrilin 4	470	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACCATGTGCCGCAACGCCAGC	0.672000													21	28					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	62					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505468	155505468	+	Silent	SNP	A	A	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:155505468A>G	ENST00000302053.3	-	6	2487	c.2409T>C	c.(2407-2409)taT>taC	p.Y803Y		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	803	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCCCCCATAGACTTCTG	0.507000													37	64					0	0	1	0	0
CRHR2	1395	broad.mit.edu	37	7	30721825	30721825	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:30721825C>A	ENST00000471646.1	-	1	489	c.72G>T	c.(70-72)ttG>ttT	p.L24F	CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F|CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000348438.4_Intron	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	24					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGCCGTCCAAGAGCAGCT	0.736000													6	17					0.00198382	0.00204486	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76503840	76503840	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:76503840G>A	ENST00000389840.5	-	28	4396	c.4272C>T	c.(4270-4272)caC>caT	p.H1424H	DNAH17_ENST00000585328.1_Silent_p.H1425H					dynein, axonemal, heavy chain 17									p.H1425H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGCGGCTCGTGCTGGAATT	0.552000													5	5					0	0	1	0	0
DHX29	54505	broad.mit.edu	37	5	54586064	54586064	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:54586064T>C	ENST00000251636.5	-	7	1037	c.889A>G	c.(889-891)Ata>Gta	p.I297V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	297							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATTTCCTTATTTTTTCCTGA	0.358000													26	32					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7192121	7192121	+	Missense_Mutation	SNP	T	T	G			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:7192121T>G	ENST00000007699.5	-	8	1144	c.1081A>C	c.(1081-1083)Acc>Ccc	p.T361P		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	361	Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCCAGGATGGTGGTGGTGGGG	0.542000													4	42					0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910609	52910609	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:52910609G>A	ENST00000252242.4	-	7	1641	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	417	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCTGCTCGGCATCCGCAA	0.617000													37	57					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70709895	70709895	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393000													50	77					0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70509372	70509372	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:70509372C>T	ENST00000265872.6	+	10	1167	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	350	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGCGAGAGCGATCACCTCG	0.463000													39	28					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940658	86940658	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:86940658G>A	ENST00000441037.2	+	17	2393	c.2298G>A	c.(2296-2298)tgG>tgA	p.W766*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	766					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCAGTTGGGTGATGAAGG	0.473000													21	30					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473000													28	36					0	0	1	0	0
PRPF19	27339	broad.mit.edu	37	11	60658695	60658695	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	486					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542000													14	23					0	0	1	0	0
FAM167B	84734	broad.mit.edu	37	1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637000													17	24					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662000													12	26					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61558848	61558848	+	Splice_Site	SNP	T	T	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr18:61558848T>A	ENST00000457692.1	+	3	501		c.e3+2		SERPINB2_ENST00000299502.4_Splice_Site	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2						anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGGCCAAGGTGAGTTTGAGC	0.522000													14	26					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185985120	185985120	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:185985120C>T	ENST00000271588.4	+	32	5169	c.4940C>T	c.(4939-4941)aCg>aTg	p.T1647M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1647	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGGCCACGCCTTTGAAT	0.403000													20	45					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915004	46915004	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:46915004G>A	ENST00000307522.3	-	1	1837	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTATCTGCAGCCTCTGCCCC	0.617000													51	150					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													4	133					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359940	180359940	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:180359940C>T	ENST00000273654.4	-	19	2586	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.R572Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	572					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323000													16	25					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87696751	87696751	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:87696751A>T	ENST00000436978.1	+	35	6332	c.5852A>T	c.(5851-5853)gAa>gTa	p.E1951V	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1946V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1946	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACCTTGGAGGAAGTTAACAGA	0.418000													15	19					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613107	61613107	+	Silent	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:61613107C>T	ENST00000583023.1	+	6	1190	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	393					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGACCGCTACTCTGAGTATG	0.607000													28	42					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522420	23522420	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428000										HNSCC(3;0.000094)			38	67					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23110996	23110996	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:23110996C>T	ENST00000400191.3	+	3	256	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	80					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTATCCGGCGCCGTGGCGC	0.577000													16	18					0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87377354	87377354	+	Silent	SNP	G	G	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:87377354G>A	ENST00000311635.7	-	4	519	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	169					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCACCCGATGATGAACAGGC	0.617000													16	26					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23503697	23503697	+	Silent	SNP	G	G	T			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr22:23503697G>T	ENST00000263116.2	+	11	988	c.948G>T	c.(946-948)ggG>ggT	p.G316G	RAB36_ENST00000341989.4_Silent_p.G294G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	316					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AAATGGAAGGGAGTCCGCCCG	0.607000													3	15					0.217242	0.217242	1	1	0
GCC2	9648	broad.mit.edu	37	2	109086787	109086790	+	Frame_Shift_Del	DEL	CAAA	CAAA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:109086787_109086790delCAAA	ENST00000309863.6	+	6	1716_1719	c.1002_1005delCAAA	c.(1000-1005)gtcaaafs	p.VK334fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	334					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAAAAAGTCAAACACTTAGAAG	0.294													13	38	---	---	---	---					
NBEAL2	23218	broad.mit.edu	37	3	47040555	47040555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:47040555delC	ENST00000450053.3	+	24	3670	c.3491delC	c.(3490-3492)gccfs	p.A1164fs	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1164	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCTACTGGCCCTGCTAGTG	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
SLC12A7	10723	broad.mit.edu	37	5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCCCCGAACCTgcaggcaggcg	0.673													3	6	---	---	---	---					
TAF2	6873	broad.mit.edu	37	8	120797466	120797468	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr8:120797466_120797468delCTT	ENST00000378164.2	-	15	2130_2132	c.1832_1834delAAG	c.(1831-1836)gaagtt>gtt	p.E611del		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	611					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCATATCAACTTCTTCTCCATT	0.305													29	70	---	---	---	---					
MBL1P	8512	broad.mit.edu	37	10	81680655	81680656	+	RNA	INS	-	-	A			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:81680655_81680656insA	ENST00000480805.1	+	0	722_723					NR_002724.2																						AGCTTTTGGGGAAAAAAAAAAG	0.545													2	4	---	---	---	---					
WDR20	91833	broad.mit.edu	37	14	102676161	102676162	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:102676161_102676162delGA	ENST00000335263.5	+	3	1734_1735	c.1654_1655delGA	c.(1654-1656)gagfs	p.E552fs	WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000342702.3_Frame_Shift_Del_p.E552fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	552										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCTTGTCAGGAGGGATTTATT	0.391													36	51	---	---	---	---					
POLDIP2	26073	broad.mit.edu	37	17	26684390	26684391	+	Frame_Shift_Ins	INS	-	-	C	rs148075904	by1000genomes	TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:26684390_26684391insC	ENST00000540200.1	-	2	80_81	c.81_82insG	c.(79-84)aagccgfs	p.P28fs	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	29				R -> K (in Ref. 1; AAK92018).		mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCACAGAGCGGCTTTGCCACCG	0.762													6	8	---	---	---	---					
