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
SIX5	147912	broad.mit.edu	37	19	46268961	46268961	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:46268961G>A	ENST00000317578.6	-	3	2399	c.2018C>T	c.(2017-2019)gCa>gTa	p.A673V	SIX5_ENST00000560168.1_3'UTR|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	673						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		CTCTGTTCCTGCGCTTAGTTC	0.692000													33	30					0	0	0.00327116	0	0
KIF4B	285643	broad.mit.edu	37	5	154395370	154395370	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:154395370A>G	ENST00000435029.4	+	1	2111	c.1951A>G	c.(1951-1953)Atg>Gtg	p.M651V		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	651					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTACAGTTAATGCGTCAAAT	0.408000													40	66					0	0	0.00111076	0	0
C9orf171	389799	broad.mit.edu	37	9	135418412	135418412	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:135418412G>C	ENST00000343036.2	+	6	866	c.818G>C	c.(817-819)tGg>tCg	p.W273S	C9orf171_ENST00000393216.2_Missense_Mutation_p.W237S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	273										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACACCCTCTGGCACATGCCT	0.597000													13	39					0	0	0.00185496	0	0
C17orf85	55421	broad.mit.edu	37	17	3716385	3716385	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:3716385T>C	ENST00000158149.3	-	14	1871	c.976A>G	c.(976-978)Att>Gtt	p.I326V	C17orf85_ENST00000389005.4_Missense_Mutation_p.I606V			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	606							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		CTAACTTCAATCTGGAGAGAT	0.532000													37	66					0	0	0.00128727	0	0
BMP5	653	broad.mit.edu	37	6	55659208	55659208	+	Nonsense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:55659208A>T	ENST00000370830.3	-	3	1399	c.701T>A	c.(700-702)tTg>tAg	p.L234*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.L234*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	234					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTGTCTAACAAGAACAGATC	0.348000													36	49					0	0	0.00428921	0	0
HGD	3081	broad.mit.edu	37	3	120365873	120365873	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:120365873A>G	ENST00000283871.5	-	8	955	c.496T>C	c.(496-498)Tac>Cac	p.Y166H		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	166					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AACTCGGTGTAAATGAGAAGG	0.458000													26	31					0	0	0.000878237	0	0
ACSS3	79611	broad.mit.edu	37	12	81545689	81545689	+	Missense_Mutation	SNP	C	C	G	rs148018840		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:81545689C>G	ENST00000548058.1	+	6	1898	c.988C>G	c.(988-990)Ctt>Gtt	p.L330V	ACSS3_ENST00000548324.1_Missense_Mutation_p.L12V|ACSS3_ENST00000261206.3_Missense_Mutation_p.L329V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	330						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATATACGGACTTCAACCCGG	0.363000													17	37					0	0	0.000566183	0	0
RBM39	9584	broad.mit.edu	37	20	34326906	34326906	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:34326906C>T	ENST00000361162.6	-	3	469	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	RBM39_ENST00000253363.6_Missense_Mutation_p.E29K|RBM39_ENST00000528062.3_Missense_Mutation_p.E29K|RBM39_ENST00000397370.3_Missense_Mutation_p.E29K|RBM39_ENST00000407261.4_5'UTR	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	29					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTACGTTCTTCATGGCCGTTG	0.438000													13	2					0	0	0.00244969	0	0
MCU	90550	broad.mit.edu	37	10	74628463	74628463	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:74628463C>T	ENST00000536019.1	+	5	797	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	MCU_ENST00000373053.3_Missense_Mutation_p.L167F|MCU_ENST00000357157.6_Intron	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	167					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TGTTTCAGACCTCTTAAGTCA	0.378000													28	35					0	0	0.000878237	0	0
FHOD3	80206	broad.mit.edu	37	18	34298173	34298173	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr18:34298173A>T	ENST00000257209.4	+	16	2509	c.2387A>T	c.(2386-2388)cAg>cTg	p.Q796L	FHOD3_ENST00000359247.4_Missense_Mutation_p.Q779L|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.Q758L|FHOD3_ENST00000590592.1_Missense_Mutation_p.Q971L	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	779					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GCGCCGGTGCAGCCGAAGACA	0.532000													23	55					0	0	0.00278032	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27891735	27891735	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:27891735T>G	ENST00000326019.6	+	4	1452	c.1170T>G	c.(1168-1170)gaT>gaG	p.D390E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	390						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					ATGAATTTGATGAACAGGGAC	0.338000													27	54					0	0	0.00127121	0	0
PRODH2	58510	broad.mit.edu	37	19	36303425	36303425	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:36303425G>A	ENST00000301175.3	-	3	453	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	146					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTGAGAGCCGGGAGCCCAGG	0.652000													18	21					0	0	0.000958276	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067354	18067354	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:18067354T>C	ENST00000506618.2	-	1	132	c.52A>G	c.(52-54)Aaa>Gaa	p.K18E		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	18					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCAGCAATTTTCTGGGATAAG	0.552000													29	104					0	0	0.001512	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2577440	2577440	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:2577440C>G	ENST00000397195.5	+	8	1209	c.758C>G	c.(757-759)tCc>tGc	p.S253C	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.S82C|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	253	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GCCAGCTGTTCCAATGACCAG	0.483000													13	33					0	0	0.00185496	0	0
WDR6	11180	broad.mit.edu	37	3	49050914	49050914	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:49050914C>T	ENST00000395474.3	+	2	2317	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	WDR6_ENST00000608424.1_Silent_p.H649H|WDR6_ENST00000415265.2_Silent_p.H97H|WDR6_ENST00000448293.1_Silent_p.H598H	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	649					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGAAGCTGCACATCGTCAACT	0.552000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	37					0	0	0.00152264	0	0
ZNF83	55769	broad.mit.edu	37	19	53122295	53122295	+	Silent	SNP	A	A	G	rs11669959	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:53122295A>G	ENST00000594682.2	-	5	363	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000596930.1_Silent_p.D12D	NM_001105552.1|NM_001277945.1|NM_001277946.1|NM_001277948.1	NP_001099022.1|NP_001264874.1|NP_001264875.1|NP_001264877.1	P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433000													5	160					0	0	0.000602214	0	0
AIM1	202	broad.mit.edu	37	6	107003712	107003712	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:107003712T>C	ENST00000369066.3	+	15	4918	c.4431T>C	c.(4429-4431)tgT>tgC	p.C1477C	AIM1_ENST00000535438.1_Silent_p.C296C	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1477	Beta/gamma crystallin 'Greek key' 10.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATTATCCTTGTCTGTCTGCAA	0.413000													67	80					0	0	0.00361006	0	0
ZEB1	6935	broad.mit.edu	37	10	31791287	31791287	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:31791287G>A	ENST00000446923.2	+	4	674	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E44K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E91K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E112K|ZEB1_ENST00000320985.10_Missense_Mutation_p.E111K	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	111					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAAGATGATGAATGCGAGTC	0.333000													15	47					0	0	0.00316338	0	0
S100PBP	64766	broad.mit.edu	37	1	33292201	33292201	+	Silent	SNP	G	G	A	rs12092326		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:33292201G>A	ENST00000373475.5	+	3	755	c.501G>A	c.(499-501)tcG>tcA	p.S167S	S100PBP_ENST00000398243.3_Silent_p.S167S|S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000373476.1_Silent_p.S167S	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	167						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGACTGATTCGTCCAAAGATA	0.393000													36	31					0	0	0.00111076	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084295	26084295	+	RNA	SNP	C	C	T	rs76611503	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:26084295C>T	ENST00000478176.1	-	0	162					NR_003678.1													p.G41R(1)									TGTTTGCCTCCAAATGCTGGA	0.373000													3	26					0	0	0.00024832	0	0
HEPHL1	341208	broad.mit.edu	37	11	93844757	93844757	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:93844757C>T	ENST00000315765.9	+	19	3271	c.3263C>T	c.(3262-3264)aCg>aTg	p.T1088M		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	1088	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CACCCAGCCACGGTGCCATCT	0.448000													4	4					0	0	0.000602214	0	0
RET	5979	broad.mit.edu	37	10	43620383	43620383	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:43620383T>C	ENST00000355710.3	+	18	3224	c.2992T>C	c.(2992-2994)Ttt>Ctt	p.F998L	RET_ENST00000340058.5_Missense_Mutation_p.F998L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	998	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AAGGCCGGTGTTTGCGGACAT	0.557000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				31	24					0	0	0.0024448	0	0
CC2D1B	200014	broad.mit.edu	37	1	52826703	52826703	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:52826703T>G	ENST00000371586.2	-	5	558	c.420A>C	c.(418-420)gaA>gaC	p.E140D	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E140D|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	140	Glu-rich.									breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GTTCAGTGTCTTCTAGGCCGT	0.622000													46	37					0	0	0.0025221	0	0
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	238	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				14	19					0	0	0.00244969	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163215	163215	+	RNA	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:163215G>A	ENST00000606975.1	-	0	706																											AGATACACATGTATTTAGAGT	0.323000													5	42					0	0	0.00116845	0	0
B4GALT7	11285	broad.mit.edu	37	5	177035948	177035948	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:177035948C>T	ENST00000029410.5	+	5	872	c.761C>T	c.(760-762)aCa>aTa	p.T254I		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	254					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTACAAGACATTTCGCCAC	0.607000													33	47					0	0	0.00375469	0	0
KCNN4	3783	broad.mit.edu	37	19	44276232	44276232	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:44276232T>A	ENST00000262888.3	-	4	1134	c.739A>T	c.(739-741)Aca>Tca	p.T247S		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	247					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GTCAGGAATGTGATGGGGATC	0.552000													18	31					0	0	0.00074312	0	0
VCAN	1462	broad.mit.edu	37	5	82815521	82815521	+	Missense_Mutation	SNP	G	G	A	rs147551428		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:82815521G>A	ENST00000265077.3	+	7	1961	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.V466I|VCAN_ENST00000512590.2_Missense_Mutation_p.V418I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	466	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACAACTGGCGTCTCTCATTA	0.443000													41	61					0	0	0.00148497	0	0
IQCH	64799	broad.mit.edu	37	15	67687840	67687840	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:67687840T>C	ENST00000335894.4	+	13	1910	c.1844T>C	c.(1843-1845)gTc>gCc	p.V615A	IQCH_ENST00000360277.4_Intron|IQCH_ENST00000546225.1_Intron|IQCH_ENST00000358767.3_Intron	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	615										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGCAAACGTGTCTTTGACAGT	0.433000													56	35					0	0	0.00361006	0	0
REV1	51455	broad.mit.edu	37	2	100021109	100021109	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:100021109G>A	ENST00000258428.3	-	18	3071	c.2843C>T	c.(2842-2844)cCt>cTt	p.P948L	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P947L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	948					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCGGAGATCAGGTGGAAGTGC	0.428000								Direct reversal of damage					36	29					0	0	0.000953801	0	0
UBE4B	10277	broad.mit.edu	37	1	10218426	10218426	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:10218426C>T	ENST00000377157.3	+	21	3265	c.2204C>T	c.(2203-2205)aCc>aTc	p.T735I	UBE4B_ENST00000343090.6_Missense_Mutation_p.T980I|UBE4B_ENST00000253251.8_Missense_Mutation_p.T851I	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	980					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTTGAGCATACCGGAGCCACC	0.388000													8	12					0	0	0.000274275	0	0
NOS2	4843	broad.mit.edu	37	17	26107901	26107901	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:26107901T>C	ENST00000313735.6	-	9	1129	c.896A>G	c.(895-897)tAc>tGc	p.Y299C		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	299					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAAGCGGCCGTACTTGGGCTT	0.622000													23	27					0	0	0.00332997	0	0
TBC1D31	93594	broad.mit.edu	37	8	124154594	124154594	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:124154594A>G	ENST00000287380.1	+	19	2823	c.2733A>G	c.(2731-2733)ctA>ctG	p.L911L	TBC1D31_ENST00000518805.1_Silent_p.L465L|TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000522420.1_Silent_p.L806L|TBC1D31_ENST00000521676.1_Silent_p.L788L	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GTGATGATCTACAACGAAACA	0.378000													11	21					0	0	0.000673444	0	0
LMCD1	29995	broad.mit.edu	37	3	8574495	8574495	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:8574495G>A	ENST00000157600.3	+	2	347	c.115G>A	c.(115-117)Gag>Aag	p.E39K	LMCD1_ENST00000454244.1_Intron|LMCD1_ENST00000535732.1_Missense_Mutation_p.E39K|LMCD1_ENST00000397386.3_Missense_Mutation_p.R12Q|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	39	Cys-rich.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		TTCGGGCTTCGAGCCACATTC	0.537000													46	53					0	0	0.00321405	0	0
AFF1	4299	broad.mit.edu	37	4	88048243	88048243	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:88048243A>G	ENST00000307808.6	+	14	3276	c.2856A>G	c.(2854-2856)ccA>ccG	p.P952P	AFF1_ENST00000544085.1_Silent_p.P590P|AFF1_ENST00000395146.4_Silent_p.P959P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	952						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACTCTAAACCAGGGAAGCCTC	0.403000													45	14					0	0	0.00361006	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751746	140751746	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:140751746C>T	ENST00000576222.1	+	1	1916	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGTGGACGCAGACTCGG	0.667000													30	98					0	0	0.00283554	0	0
EIF1B	10289	broad.mit.edu	37	3	40352498	40352498	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:40352498G>A	ENST00000232905.3	+	2	404	c.146G>A	c.(145-147)gGc>gAc	p.G49D		NM_005875.2	NP_005866.1	O60739	EIF1B_HUMAN	eukaryotic translation initiation factor 1B	49					regulation of translational initiation		protein binding|translation initiation factor activity			central_nervous_system(1)|lung(3)	4				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACTGTTCAGGGCATTGCAGAT	0.428000													7	49					0	0	0.00198382	0	0
CUBN	8029	broad.mit.edu	37	10	16949542	16949542	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:16949542C>A	ENST00000377833.4	-	49	7735	c.7670G>T	c.(7669-7671)gGc>gTc	p.G2557V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2557	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCAGTGAAGCCGCCATATGG	0.438000													24	25					1.55469e-16	4.34295e-16	0.00332997	1	0
HRH4	59340	broad.mit.edu	37	18	22040842	22040842	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr18:22040842T>C	ENST00000256906.4	+	1	250	c.150T>C	c.(148-150)agT>agC	p.S50S	HRH4_ENST00000426880.2_Silent_p.S50S	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	50						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	GACATCGAAGTAGTTATTTTT	0.308000													56	92					0	0	0.00361006	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214377	140214377	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:140214377C>G	ENST00000525929.1	+	1	409	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.Q137E	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGCGACACAAAGGAATCT	0.567000													42	57					0	0	0.00361006	0	0
TMEM245	23731	broad.mit.edu	37	9	111826797	111826797	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:111826797T>C	ENST00000374586.3	-	10	1614	c.1583A>G	c.(1582-1584)aAc>aGc	p.N528S		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	528						integral to membrane											ATACACGTTGTTAGCCGCAGA	0.408000													41	116					0	0	0.00170553	0	0
FGFR3	2261	broad.mit.edu	37	4	1805561	1805561	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:1805561C>T	ENST00000440486.2	+	8	1329	c.1073C>T	c.(1072-1074)cCa>cTa	p.P358L	FGFR3_ENST00000260795.2_Missense_Mutation_p.P358L|FGFR3_ENST00000481110.2_Missense_Mutation_p.P358L|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000340107.4_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	358					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GTGGTGCTGCCAGGTACCGGC	0.612000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				21	31					0	0	0.000720815	0	0
RASSF4	83937	broad.mit.edu	37	10	45480290	45480290	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:45480290C>G	ENST00000340258.5	+	6	516	c.403C>G	c.(403-405)Cag>Gag	p.Q135E	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.Q144E|RASSF4_ENST00000374417.2_Missense_Mutation_p.P104R	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4						cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGAGGCCCCCCAGCTGATGCG	0.662000													74	92					0	0	0.00361006	0	0
TPP2	7174	broad.mit.edu	37	13	103282493	103282493	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:103282493C>G	ENST00000376052.3	+	10	1208	c.1192C>G	c.(1192-1194)Ctg>Gtg	p.L398V	TPP2_ENST00000376065.4_Missense_Mutation_p.L398V			P29144	TPP2_HUMAN	tripeptidyl peptidase II	398					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGAGTATTCACTGAGAGAGAA	0.403000													31	47					0	0	0.00375469	0	0
SIX5	147912	broad.mit.edu	37	19	46271455	46271455	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:46271455G>A	ENST00000317578.6	-	1	1029	c.648C>T	c.(646-648)ctC>ctT	p.L216L	AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	216						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		AGCAGGCCTTGAGCGCTGCGC	0.647000													11	12					0	0	0.00136819	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606096	82606096	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:82606096T>C	ENST00000518568.1	-	1	2313	c.1112A>G	c.(1111-1113)gAa>gGa	p.E371G		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	371						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CATCCCACTTTCAATAGCAAC	0.433000													15	32					0	0	0.00316338	0	0
FBXO30	84085	broad.mit.edu	37	6	146125833	146125833	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:146125833C>A	ENST00000237281.4	-	2	1875	c.1709G>T	c.(1708-1710)tGt>tTt	p.C570F		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	570							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TATTGATGGACAAAATCTACG	0.433000													30	27					1.75199e-13	4.8464e-13	0.00127121	1	0
PXDNL	137902	broad.mit.edu	37	8	52320778	52320778	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:52320778C>T	ENST00000356297.4	-	17	3506	c.3406G>A	c.(3406-3408)Gat>Aat	p.D1136N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D1136N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1136					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.D1136N(1)|p.D335N(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GCAGCCGAATCCACGGCCGCA	0.532000													44	71					0	0	0.00361006	0	0
TET1	80312	broad.mit.edu	37	10	70332319	70332319	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:70332319C>G	ENST00000373644.4	+	2	433	c.224C>G	c.(223-225)aCa>aGa	p.T75R		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	75					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGCCTTCTGACAAGAGCTGGA	0.428000													43	70					0	0	0.00321405	0	0
ZNF485	220992	broad.mit.edu	37	10	44112798	44112798	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:44112798G>A	ENST00000361807.3	+	5	1501	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K	ZNF485_ENST00000374435.3_Missense_Mutation_p.R436K|ZNF485_ENST00000374437.2_Missense_Mutation_p.R345K	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AATAAAGAAAGAGCCATGAAA	0.343000													8	47					0	0	0.00307968	0	0
PTPRN	5798	broad.mit.edu	37	2	220159808	220159808	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:220159808T>G	ENST00000295718.2	-	19	2804	c.2564A>C	c.(2563-2565)tAc>tCc	p.Y855S	PTPRN_ENST00000409251.3_Missense_Mutation_p.Y826S|PTPRN_ENST00000497977.1_Intron|PTPRN_ENST00000423636.2_Missense_Mutation_p.Y765S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	855	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTTCTTCAGGTAGAAGCTCCG	0.687000											OREG0015220	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	2					0	0	0.00229938	0	0
FER1L5	90342	broad.mit.edu	37	2	97370440	97370440	+	RNA	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:97370440C>T	ENST00000457909.1	+	0	5688							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TTAGTCCATGCTGCCTGGCTT	0.478000													13	20					0	0	0.00136819	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583676	145583676	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:145583676C>G	ENST00000532887.1	+	3	1107	c.524C>G	c.(523-525)gCc>gGc	p.A175G	SLC52A2_ENST00000540505.1_Missense_Mutation_p.A87G|SLC52A2_ENST00000329994.2_Missense_Mutation_p.A175G|SLC52A2_ENST00000527078.1_Missense_Mutation_p.A175G|SLC52A2_ENST00000402965.1_Missense_Mutation_p.A175G|SLC52A2_ENST00000530047.1_Missense_Mutation_p.A175G|SLC52A2_ENST00000526752.1_Intron			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	175						integral to plasma membrane	receptor activity|riboflavin transporter activity										TGCCCGCCAGCCCCCATCAAC	0.657000													55	58					0	0	0.00361006	0	0
GCLM	2730	broad.mit.edu	37	1	94363409	94363409	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:94363409C>T	ENST00000370238.3	-	4	569	c.323G>A	c.(322-324)aGt>aAt	p.S108N	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	108					glutamate metabolic process|glutathione biosynthetic process|regulation of blood vessel size|response to drug|response to oxidative stress|xenobiotic metabolic process	cytosol|soluble fraction	glutamate-cysteine ligase catalytic subunit binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	GTCAACTGCACTTCTAGTTGA	0.318000													12	14					0	0	0.00185496	0	0
PAFAH1B2	5049	broad.mit.edu	37	11	117031863	117031863	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:117031863A>G	ENST00000527958.1	+	4	333	c.174A>G	c.(172-174)atA>atG	p.I58M	PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000529887.2_Missense_Mutation_p.I58M|PAFAH1B2_ENST00000530272.1_Missense_Mutation_p.I58M|PAFAH1B2_ENST00000419197.2_Missense_Mutation_p.I58M	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	58					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		TTTTTTAGATATGGCGAGAGC	0.368000			T	IGH@	MLCLS								9	37					0	0	0.000274275	0	0
ITSN1	6453	broad.mit.edu	37	21	35206683	35206683	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr21:35206683A>C	ENST00000381318.3	+	28	3712	c.3424A>C	c.(3424-3426)Aaa>Caa	p.K1142Q	ITSN1_ENST00000399367.3_Missense_Mutation_p.K1137Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Missense_Mutation_p.K1100Q|ITSN1_ENST00000399349.1_Missense_Mutation_p.K1066Q|ITSN1_ENST00000381291.4_Missense_Mutation_p.K1142Q|ITSN1_ENST00000399352.1_Missense_Mutation_p.K1137Q|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.K1137Q|ITSN1_ENST00000399355.2_Missense_Mutation_p.K1071Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.K1142Q|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1142					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGGGACGAGCAAAATCACTCC	0.448000													14	19					0	0	0.00244969	0	0
E4F1	1877	broad.mit.edu	37	16	2284977	2284977	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:2284977C>A	ENST00000301727.4	+	12	1958	c.1910C>A	c.(1909-1911)gCt>gAt	p.A637D	E4F1_ENST00000564139.1_Intron|E4F1_ENST00000565090.1_Missense_Mutation_p.A460D	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	637					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCCGTGGTAGCTGACACCCAG	0.647000													5	9					0.000602214	0.00156429	0.000602214	1	0
GPR116	221395	broad.mit.edu	37	6	46827120	46827120	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:46827120A>C	ENST00000283296.7	-	17	2808	c.2520T>G	c.(2518-2520)gaT>gaG	p.D840E	GPR116_ENST00000545669.1_Missense_Mutation_p.D269E|GPR116_ENST00000265417.7_Missense_Mutation_p.D840E|GPR116_ENST00000362015.4_Missense_Mutation_p.D840E|GPR116_ENST00000456426.2_Missense_Mutation_p.D698E	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	840					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGAGGGCTATCTCCCGACT	0.448000													23	25					0	0	0.00395357	0	0
LRP6	4040	broad.mit.edu	37	12	12318192	12318192	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:12318192A>G	ENST00000261349.4	-	8	1659	c.1583T>C	c.(1582-1584)gTg>gCg	p.V528A	LRP6_ENST00000543091.1_Missense_Mutation_p.V528A	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	528	Beta-propeller 2.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTTGTCTTCCACTAGTACTCG	0.373000													55	37					0	0	0.00361006	0	0
ZNF79	7633	broad.mit.edu	37	9	130206795	130206795	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:130206795C>T	ENST00000342483.5	+	5	1222	c.816C>T	c.(814-816)acC>acT	p.T272T	ZNF79_ENST00000543471.1_Silent_p.T248T	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAACCCACACCGGAGAGAAGC	0.527000													24	59					0	0	0.00278032	0	0
PSMD7	5713	broad.mit.edu	37	16	74339276	74339276	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:74339276A>G	ENST00000219313.4	+	7	760	c.620A>G	c.(619-621)gAt>gGt	p.D207G	PSMD7_ENST00000567958.1_Intron|PSMD7_ENST00000540379.1_Missense_Mutation_p.D130G|AC009120.6_ENST00000566411.1_RNA|AC009120.6_ENST00000565313.1_RNA	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						AAGCTTCTGGATATCAGGAGC	0.522000													14	8					0	0	0.00244969	0	0
CD96	10225	broad.mit.edu	37	3	111264196	111264196	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:111264196T>C	ENST00000352690.4	+	2	605	c.365T>C	c.(364-366)cTg>cCg	p.L122P	CD96_ENST00000283285.5_Missense_Mutation_p.L122P|CD96_ENST00000438817.2_Missense_Mutation_p.L122P	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	122	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATGCTTGTTCTGTATCCAGAG	0.433000									Opitz Trigonocephaly syndrome				17	29					0	0	0.00400662	0	0
MAATS1	89876	broad.mit.edu	37	3	119434529	119434529	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:119434529A>G	ENST00000273390.5	+	6	698	c.621A>G	c.(619-621)gcA>gcG	p.A207A	MAATS1_ENST00000463700.1_Silent_p.A207A	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		CATACTCTGCAGAATATGTAG	0.468000													69	75					0	0	0.00361006	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925718	67925718	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:67925718G>A	ENST00000304363.4	-	11	2448	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	699					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CTTGTGATTCGCCTCTTCTTT	0.413000													45	95					0	0	0.00285205	0	0
LST3	0	broad.mit.edu	37	12	21174488	21174488	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:21174488T>C	ENST00000381541.3	+	4	518	c.453T>C	c.(451-453)aaT>aaC	p.N151N	SLCO1B7_ENST00000421593.2_Silent_p.N104N|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.N151N|LST3_ENST00000540229.1_Intron																							TATCACTCAATAGAACACCGT	0.254000													5	1					0	0	0.000602214	0	0
F10	2159	broad.mit.edu	37	13	113803351	113803351	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:113803351G>A	ENST00000375551.3	+	8	1019	c.977G>A	c.(976-978)aGa>aAa	p.R326K	F10_ENST00000375559.3_Silent_p.K329K|F10_ENST00000409306.1_Missense_Mutation_p.R328K			P00742	FA10_HUMAN	coagulation factor X	0	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCGGCTCAAGACCCCCATCA	0.632000													43	115					0	0	0.00222228	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494290	21494290	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:21494290T>C	ENST00000377142.4	-	1	374	c.18A>G	c.(16-18)acA>acG	p.T6T		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	6					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACCCCGTCTTTGTGTTGGTCA	0.592000													10	70					0	0	0.000673444	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596405	23596405	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:23596405G>A	ENST00000316902.7	-	11	2314	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	SLC7A8_ENST00000469263.1_3'UTR|SLC7A8_ENST00000453702.1_Missense_Mutation_p.A327V|SLC7A8_ENST00000422941.2_Missense_Mutation_p.A306V|SLC7A8_ENST00000529705.2_Missense_Mutation_p.A425V	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	530					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GGGCTGCCCCGCCACGTCCTT	0.622000													17	36					0	0	0.00074312	0	0
AKAP6	9472	broad.mit.edu	37	14	33015574	33015574	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:33015574C>T	ENST00000280979.4	+	4	1885	c.1715C>T	c.(1714-1716)aCa>aTa	p.T572I	AKAP6_ENST00000557272.1_Missense_Mutation_p.T572I|AKAP6_ENST00000557354.1_Missense_Mutation_p.T572I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	572					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTCAGAAACATCCAGTTCA	0.438000													14	58					0	0	0.00244969	0	0
DGKE	8526	broad.mit.edu	37	17	54912384	54912384	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:54912384G>A	ENST00000284061.3	+	2	408	c.228G>A	c.(226-228)gtG>gtA	p.V76V	DGKE_ENST00000572810.1_Silent_p.V76V|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	76					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ACTGCTGCGTGTGCGCGCAGC	0.682000													37	64					0	0	0.00428921	0	0
GOLIM4	27333	broad.mit.edu	37	3	167754638	167754638	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:167754638G>C	ENST00000470487.1	-	8	1518	c.829C>G	c.(829-831)Cga>Gga	p.R277G	GOLIM4_ENST00000309027.4_Missense_Mutation_p.R249G	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	277					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGCACCTCTCGGGTTGGCTTC	0.493000													58	68					0	0	0.00361006	0	0
ABCC9	10060	broad.mit.edu	37	12	22065823	22065823	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:22065823T>C	ENST00000261200.4	-	6	993	c.994A>G	c.(994-996)Aca>Gca	p.T332A	ABCC9_ENST00000345162.2_Missense_Mutation_p.T332A|ABCC9_ENST00000261201.4_Missense_Mutation_p.T332A	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	332	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTGTTATTTGTCCCATTCTGG	0.363000													17	28					0	0	0.000958276	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989672	64989672	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:64989672A>G	ENST00000358738.3	+	2	1841	c.1450A>G	c.(1450-1452)Act>Gct	p.T484A	ZBTB1_ENST00000554015.1_Missense_Mutation_p.T484A|RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.T484A	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GTTAGGAAATACTGAGGAGAA	0.423000													28	90					0	0	0.00106085	0	0
DNAH9	1770	broad.mit.edu	37	17	11556147	11556147	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:11556147A>T	ENST00000262442.4	+	14	2491	c.2423A>T	c.(2422-2424)aAa>aTa	p.K808I	DNAH9_ENST00000454412.2_Missense_Mutation_p.K808I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGAAAACTAAAGACAATGTG	0.343000													37	49					0	0	0.00327116	0	0
WDR92	116143	broad.mit.edu	37	2	68358520	68358520	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:68358520T>C	ENST00000295121.6	-	8	1040	c.924A>G	c.(922-924)gcA>gcG	p.A308A	WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	308					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TTACAGAACCTGCGACTCCCA	0.433000													27	46					0	0	0.000878237	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4446307	4446307	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:4446307G>A	ENST00000254718.4	-	20	3099	c.2793C>T	c.(2791-2793)ctC>ctT	p.L931L	MYBBP1A_ENST00000381556.2_Silent_p.L931L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	931					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCAAGACCCGGAGCAGGTAGA	0.672000													76	92					0	0	0.00361006	0	0
HMP19	51617	broad.mit.edu	37	5	173534471	173534471	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:173534471T>A	ENST00000303177.3	+	5	741	c.479T>A	c.(478-480)aTc>aAc	p.I160N	NSG2_ENST00000521959.1_3'UTR|NSG2_ENST00000521585.1_Intron	NM_015980.4	NP_057064.1																					GCCGCTGTCATCCATGAGCCC	0.647000													8	31					0	0	0.00307968	0	0
DSC1	1823	broad.mit.edu	37	18	28720131	28720131	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr18:28720131C>A	ENST00000257197.3	-	10	1655	c.1394G>T	c.(1393-1395)aGt>aTt	p.S465I	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.S465I	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	465	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GCCCTCATCACTGTCTATAAT	0.473000													54	69					3.31993e-32	9.52383e-32	0.00361006	1	0
DDX3X	1654	broad.mit.edu	37	X	41206266	41206266	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:41206266G>T	ENST00000399959.2	+	15	2624		c.e15+1		DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_Splice_Site|DDX3X_ENST00000457138.2_Splice_Site	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked						interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GTTCTAAGAGGTGAGGTATAA	0.408000										HNSCC(61;0.18)			15	24					2.23348e-06	5.87324e-06	0.00400662	1	0
GRHPR	9380	broad.mit.edu	37	9	37428496	37428496	+	Silent	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:37428496G>T	ENST00000607784.1	+	5	425	c.420G>T	c.(418-420)tcG>tcT	p.S140S	GRHPR_ENST00000318158.6_Silent_p.S140S|GRHPR_ENST00000493368.1_3'UTR			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	140					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GCTGGACCTCGTGGAAGCCCC	0.667000													27	117					4.59853e-10	1.24379e-09	0.000878237	1	0
HSPH1	10808	broad.mit.edu	37	13	31711586	31711586	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:31711586G>C	ENST00000320027.5	-	18	2790	c.2446C>G	c.(2446-2448)Cca>Gca	p.P816A	HSPH1_ENST00000380405.4_Missense_Mutation_p.P772A|HSPH1_ENST00000380406.5_Missense_Mutation_p.P775A|HSPH1_ENST00000445273.2_Missense_Mutation_p.P818A|HSPH1_ENST00000429785.2_Missense_Mutation_p.P635A	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	816					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		GGGCCATTTGGAGTTCTTTCC	0.353000													14	55					0	0	0.00316338	0	0
CMAS	55907	broad.mit.edu	37	12	22208137	22208137	+	Silent	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:22208137T>A	ENST00000229329.2	+	2	445	c.315T>A	c.(313-315)ggT>ggA	p.G105G		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	105					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						AACAATTTGGTGCACAAGTTC	0.343000													18	8					0	0	0.000566183	0	0
LRRC7	57554	broad.mit.edu	37	1	70446112	70446112	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:70446112T>C	ENST00000310961.5	+	10	1081	c.663T>C	c.(661-663)aaT>aaC	p.N221N	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Silent_p.N216N			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	216						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGATGGATAATAATGCATTAC	0.338000													19	53					0	0	0.00332997	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132444	91132444	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:91132444A>G	ENST00000373094.1	+	2	2050	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	PCDH11X_ENST00000361655.2_Missense_Mutation_p.H402R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H402R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H402R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.H402R|PCDH11X_ENST00000395337.2_Missense_Mutation_p.H402R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.H402R|PCDH11X_ENST00000504220.2_Missense_Mutation_p.H402R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H402R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	402	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTCACAGATCATGAAATCCCT	0.408000													58	8					0	0	0.00361006	0	0
B9D2	80776	broad.mit.edu	37	19	41860670	41860670	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:41860670C>T	ENST00000243578.3	-	4	682	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	155					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						TGCACGGTGCCACCAGCAGCT	0.652000													24	46					0	0	0.00229938	0	0
MAN2A1	4124	broad.mit.edu	37	5	109106139	109106139	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:109106139A>G	ENST00000261483.4	+	7	2145	c.1093A>G	c.(1093-1095)Aaa>Gaa	p.K365E		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	365					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACCTGATCCTAAAATATGCTG	0.443000													57	53					0	0	0.00361006	0	0
RPN2	6185	broad.mit.edu	37	20	35862483	35862483	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:35862483C>T	ENST00000237530.6	+	15	2049	c.1738C>T	c.(1738-1740)Cac>Tac	p.H580Y	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Missense_Mutation_p.H548Y	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	580					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GATTATATTTCACCTGGGACA	0.458000													15	4					0	0	0.00316338	0	0
NSUN2	54888	broad.mit.edu	37	5	6600239	6600239	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:6600239T>G	ENST00000264670.6	-	19	2415	c.2104A>C	c.(2104-2106)Atg>Ctg	p.M702L	NSUN2_ENST00000539938.1_Missense_Mutation_p.M466L|NSUN2_ENST00000506139.1_Missense_Mutation_p.M667L	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	702						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCAGCCCCATCATCCTGAGA	0.527000													17	34					0	0	0.00400662	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42103140	42103140	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:42103140C>T	ENST00000457542.2	+	4	552	c.266C>T	c.(265-267)tCc>tTc	p.S89F	MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.S89F|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.S89F|MAPKBP1_ENST00000507762.1_3'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.S89F	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	89										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTCAACAGTTCCAGGTAAATG	0.537000													9	37					0	0	0.000673444	0	0
PITX1	5307	broad.mit.edu	37	5	134364925	134364925	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:134364925C>T	ENST00000265340.7	-	3	905	c.489G>A	c.(487-489)caG>caA	p.Q163Q	PITX1_ENST00000506438.1_Silent_p.Q163Q	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	163	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCCGCTGAACTGCGGCACGT	0.662000													24	57					0	0	0.00395357	0	0
CARF	79800	broad.mit.edu	37	2	203834670	203834670	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:203834670C>T	ENST00000402905.3	+	10	1303	c.982C>T	c.(982-984)Cct>Tct	p.P328S	CARF_ENST00000414439.1_Missense_Mutation_p.P226S|CARF_ENST00000545262.1_Missense_Mutation_p.P252S|CARF_ENST00000320443.8_Missense_Mutation_p.P328S|CARF_ENST00000438828.2_Missense_Mutation_p.P328S|CARF_ENST00000545253.1_Missense_Mutation_p.P240S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000456821.2_3'UTR|CARF_ENST00000428585.1_Missense_Mutation_p.P252S	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		ACAGAAGTTTCCTGAATATAG	0.303000													22	4					0	0	0.00188189	0	0
EXD3	54932	broad.mit.edu	37	9	140242557	140242557	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:140242557A>G	ENST00000340951.4	-	17	2159	c.1964T>C	c.(1963-1965)cTg>cCg	p.L655P	EXD3_ENST00000342129.4_Missense_Mutation_p.L306P	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	655					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						ACCATTGCCCAGCATGCGTGC	0.662000													6	8					0	0	0.00307968	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69337330	69337330	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:69337330T>G	ENST00000305363.4	+	5	543	c.479T>G	c.(478-480)gTt>gGt	p.V160G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	160	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCTCACTCAGTTAAAATTAAA	0.318000													68	11					0	0	0.00361006	0	0
HIPK1	204851	broad.mit.edu	37	1	114504992	114504992	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:114504992G>A	ENST00000369558.1	+	9	2267	c.2035G>A	c.(2035-2037)Gct>Act	p.A679T	HIPK1_ENST00000406344.1_Missense_Mutation_p.A285T|HIPK1_ENST00000369561.4_Missense_Mutation_p.A645T|HIPK1_ENST00000369555.2_Missense_Mutation_p.A679T|HIPK1_ENST00000369554.2_Missense_Mutation_p.A679T|HIPK1_ENST00000369553.1_Missense_Mutation_p.A285T|HIPK1_ENST00000369559.4_Missense_Mutation_p.A679T|HIPK1_ENST00000426820.2_Missense_Mutation_p.A679T|HIPK1_ENST00000340480.4_Missense_Mutation_p.A305T			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATGGATAATGCTGTACCGAT	0.458000													15	42					0	0	0.00244969	0	0
BATF2	116071	broad.mit.edu	37	11	64756647	64756647	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:64756647G>T	ENST00000301887.4	-	3	909	c.779C>A	c.(778-780)cCt>cAt	p.P260H	BATF2_ENST00000527716.1_Missense_Mutation_p.P236H|BATF2_ENST00000435842.2_Missense_Mutation_p.P175H	NM_138456.3	NP_612465.3	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor, ATF-like 2	260						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1)	9						GGCCAGGAGAGGGTGAGGGCT	0.602000													30	25					9.39395e-14	2.60705e-13	0.00106085	1	0
SORCS2	57537	broad.mit.edu	37	4	7728551	7728551	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:7728551C>A	ENST00000507866.2	+	21	2899	c.2790C>A	c.(2788-2790)gaC>gaA	p.D930E	SORCS2_ENST00000329016.9_Missense_Mutation_p.D758E	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	930						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGTTTTCGGACACGGGCGACG	0.657000													20	100					1.2644e-06	3.35599e-06	0.00152264	1	0
ASH1L	55870	broad.mit.edu	37	1	155448259	155448259	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:155448259T>A	ENST00000368346.3	-	3	5041	c.4402A>T	c.(4402-4404)Agt>Tgt	p.S1468C	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1468					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GGAGGAACACTGGGGTAGGTA	0.493000													37	32					0	0	0.00111076	0	0
C5orf20	140947	broad.mit.edu	37	5	134782554	134782554	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:134782554C>T	ENST00000503143.2	-	1	484	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	82						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCCCCTCTCGCAGGACCCC	0.592000													15	39					0	0	0.00316338	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	136					0	0	0.00024832	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494123	102494123	+	Silent	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:102494123G>T	ENST00000360184.4	+	47	9380	c.9216G>T	c.(9214-9216)tcG>tcT	p.S3072S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3072	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCCGTCCTCGGAGGGACTCA	0.567000													25	69					6.12954e-19	1.74079e-18	0.000720815	1	0
MUC15	143662	broad.mit.edu	37	11	26587354	26587354	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:26587354G>A	ENST00000436318.2	-	2	266	c.133C>T	c.(133-135)Cta>Tta	p.L45L	MUC15_ENST00000527569.1_Silent_p.L45L|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Silent_p.L18L|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Silent_p.L45L|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Silent_p.L45L			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	18						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CTCCCCGATAGAAGTGAATAA	0.323000													29	19					0	0	0.00283554	0	0
RYR3	6263	broad.mit.edu	37	15	34077871	34077871	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:34077871A>G	ENST00000389232.4	+	66	9347	c.9277A>G	c.(9277-9279)Atg>Gtg	p.M3093V	RYR3_ENST00000415757.3_Missense_Mutation_p.M3093V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3093					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTTCTGGGGATGCCAGACAC	0.522000													12	10					0	0	0.00136819	0	0
SETD1A	9739	broad.mit.edu	37	16	30983006	30983006	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:30983006G>A	ENST00000262519.8	+	13	4010	c.3324G>A	c.(3322-3324)ctG>ctA	p.L1108L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1108	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCACACCCCTGCCCGAACAGG	0.642000													14	21					0	0	0.00316338	0	0
ZNF148	7707	broad.mit.edu	37	3	124952263	124952263	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:124952263A>C	ENST00000360647.4	-	9	1792	c.1307T>G	c.(1306-1308)cTg>cGg	p.L436R	ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.L436R|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.L436R|ZNF148_ENST00000492394.1_Missense_Mutation_p.L436R	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	436					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCTGAGTCCAGTAAAGCCTG	0.408000													48	48					0	0	0.00361006	0	0
NUMA1	4926	broad.mit.edu	37	11	71717195	71717195	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:71717195G>A	ENST00000393695.3	-	22	5909	c.5578C>T	c.(5578-5580)Ctg>Ttg	p.L1860L	NUMA1_ENST00000358965.6_Silent_p.L1846L|NUMA1_ENST00000351960.6_Silent_p.L724L	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1860					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGAACCCAGGCGAGCTAGA	0.627000			T	RARA	APL								16	67					0	0	0.00400662	0	0
KCNC1	3746	broad.mit.edu	37	11	17793258	17793258	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:17793258C>A	ENST00000379472.3	+	2	647	c.617C>A	c.(616-618)aCc>aAc	p.T206N	KCNC1_ENST00000265969.6_Missense_Mutation_p.T206N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	206						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCCATCACCACCTTCTGCCTG	0.582000													21	66					1.22574e-08	3.29441e-08	0.00229938	1	0
SLC13A5	284111	broad.mit.edu	37	17	6604326	6604326	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:6604326A>T	ENST00000433363.2	-	6	1069	c.836T>A	c.(835-837)tTc>tAc	p.F279Y	SLC13A5_ENST00000381074.4_Missense_Mutation_p.F236Y|SLC13A5_ENST00000573648.1_Missense_Mutation_p.F279Y|SLC13A5_ENST00000293800.6_Missense_Mutation_p.F262Y	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	279						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						AACTTACTTGAATCTCATGTA	0.473000													12	19					0	0	0.00136819	0	0
CDC45	8318	broad.mit.edu	37	22	19496133	19496133	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:19496133C>T	ENST00000407835.1	+	14	1392	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	CDC45_ENST00000437685.2_Missense_Mutation_p.A411V|CDC45_ENST00000404724.3_Missense_Mutation_p.A333V|CDC45_ENST00000263201.1_Missense_Mutation_p.A379V			O75419	CDC45_HUMAN	cell division cycle 45	379					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTGGTCTTTGCCACCATGTCT	0.547000													12	31					0	0	0.000978159	0	0
TDRD1	56165	broad.mit.edu	37	10	115962887	115962887	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:115962887G>A	ENST00000251864.2	+	7	906	c.753G>A	c.(751-753)atG>atA	p.M251I	TDRD1_ENST00000369280.1_Missense_Mutation_p.M251I|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.M251I|TDRD1_ENST00000369281.2_Missense_Mutation_p.M251I	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	251				M -> T (in Ref. 1; BAG53796).	DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AGAGAATAATGTTTTCTGATT	0.353000													9	29					0	0	0.00136819	0	0
PARVB	29780	broad.mit.edu	37	22	44532374	44532374	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:44532374C>T	ENST00000338758.7	+	7	731	c.668C>T	c.(667-669)tCg>tTg	p.S223L	PARVB_ENST00000404989.1_Missense_Mutation_p.S186L|PARVB_ENST00000406477.3_Missense_Mutation_p.S256L	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AGCCACATCTCGGAGGAGCTG	0.552000													26	25					0	0	0.00127121	0	0
DDHD1	80821	broad.mit.edu	37	14	53513535	53513535	+	Missense_Mutation	SNP	T	T	C	rs141960546	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:53513535T>C	ENST00000357758.3	-	12	2753	c.2570A>G	c.(2569-2571)tAt>tGt	p.Y857C	DDHD1_ENST00000395606.1_Missense_Mutation_p.Y864C|DDHD1_ENST00000323669.5_Missense_Mutation_p.Y885C	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	885	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTCATGTTTATACATGAAGGT	0.413000													26	30					0	0	0.000720815	0	0
FCGBP	8857	broad.mit.edu	37	19	40395942	40395942	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:40395942G>A	ENST00000221347.6	-	15	7462	c.7455C>T	c.(7453-7455)acC>acT	p.T2485T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2485	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCAGGCCGGGTGCCGCAGG	0.637000													49	228					0	0	0.00361006	0	0
ACBD7	414149	broad.mit.edu	37	10	15120541	15120541	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:15120541T>A	ENST00000356189.5	-	4	302	c.255A>T	c.(253-255)aaA>aaT	p.K85N	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	85	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						AAATTCCGTATTTTTCTATCA	0.388000													51	60					0	0	0.00361006	0	0
HHIP	64399	broad.mit.edu	37	4	145635407	145635407	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:145635407C>T	ENST00000296575.3	+	9	2109	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	485						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCAAGCCATTCAGTAAT	0.383000													16	13					0	0	0.00400662	0	0
FAM117A	81558	broad.mit.edu	37	17	47810026	47810026	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:47810026G>T	ENST00000240364.2	-	2	332	c.253C>A	c.(253-255)Cag>Aag	p.Q85K	FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	85										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CGCCGGACCTGAAGTGGCTGA	0.607000													15	20					6.31663e-08	1.68707e-07	0.00316338	1	0
GSTA1	2938	broad.mit.edu	37	6	52659041	52659041	+	Missense_Mutation	SNP	A	A	G	rs113736593	byFrequency	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:52659041A>G	ENST00000334575.5	-	5	451	c.296T>C	c.(295-297)aTa>aCa	p.I99T	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	99	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CAAATCTGCTATACCTTCTAT	0.368000													72	98					0	0	0.00361006	0	0
BRPF1	7862	broad.mit.edu	37	3	9781196	9781196	+	Silent	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:9781196T>A	ENST00000383829.2	+	3	1517	c.1113T>A	c.(1111-1113)atT>atA	p.I371I	BRPF1_ENST00000457855.1_Silent_p.I371I|BRPF1_ENST00000302054.3_Silent_p.I371I|BRPF1_ENST00000433861.2_Silent_p.I371I|BRPF1_ENST00000424362.1_Silent_p.I371I	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	371					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TAGAGCCTATTGACAGCATTG	0.582000													49	172					0	0	0.00361006	0	0
HHIP	64399	broad.mit.edu	37	4	145567984	145567984	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:145567984A>G	ENST00000296575.3	+	1	812	c.157A>G	c.(157-159)Agg>Ggg	p.R53G	HHIP_ENST00000434550.2_Missense_Mutation_p.R53G|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	53	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGGAGAGACAGGAGGATGAT	0.602000													29	7					0	0	0.00106085	0	0
CA11	770	broad.mit.edu	37	19	49143140	49143140	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:49143140C>T	ENST00000084798.4	-	5	1151	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	158						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		ATGAGCTGCACCTGGGGGTAG	0.597000													14	48					0	0	0.00185496	0	0
LRRK2	120892	broad.mit.edu	37	12	40687424	40687424	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:40687424C>G	ENST00000298910.7	+	21	2825	c.2767C>G	c.(2767-2769)Cag>Gag	p.Q923E	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q923E	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	923					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGCCGTATTACAGCGTTGCTC	0.328000													9	17					0	0	0.000442599	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	105					0	0	0.00024832	0	0
KIF11	3832	broad.mit.edu	37	10	94399644	94399644	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:94399644G>T	ENST00000260731.3	+	17	2344	c.2254G>T	c.(2254-2256)Gaa>Taa	p.E752*		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	752					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TAGTGTCCAGGAAAATATACA	0.303000													28	46					6.32553e-13	1.73291e-12	0.000720815	1	0
LTF	4057	broad.mit.edu	37	3	46506348	46506348	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:46506348C>T	ENST00000231751.4	-	1	305	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	LTF_ENST00000417439.1_Missense_Mutation_p.V4I	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	4					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	ACGAGGAAGACAAGTTTCATG	0.657000													19	31					0	0	0.00278032	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628310	206628310	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:206628310C>T	ENST00000414007.1	+	17	2027	c.2027C>T	c.(2026-2028)gCg>gTg	p.A676V	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.A121V			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	816	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACAGCCAGAGCGGGGGCCAGC	0.532000													22	32					0	0	0.00229938	0	0
MED12	9968	broad.mit.edu	37	X	70339689	70339689	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:70339689T>G	ENST00000333646.6	+	3	557	c.358T>G	c.(358-360)Ttg>Gtg	p.L120V	MED12_ENST00000374080.3_Missense_Mutation_p.L120V|MED12_ENST00000374102.1_Missense_Mutation_p.L120V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	120					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCACTGACTTGGCTGGCAC	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	2					0	0	0.000673444	0	0
GGA2	23062	broad.mit.edu	37	16	23503012	23503012	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:23503012A>C	ENST00000309859.4	-	5	543	c.461T>G	c.(460-462)aTg>aGg	p.M154R	GGA2_ENST00000567468.1_Missense_Mutation_p.M154R	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	154	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TTTCTTCAGCATCTGATAAGC	0.408000													38	45					0	0	0.000953801	0	0
SLC26A10	65012	broad.mit.edu	37	12	58016358	58016358	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:58016358T>A	ENST00000379218.2	+	5	1036	c.725T>A	c.(724-726)gTg>gAg	p.V242E	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V242E			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	242						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTGGCCTCCGTGCTCTGCTTC	0.517000											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	144	151					0	0	0.00361006	0	0
KCNN4	3783	broad.mit.edu	37	19	44284936	44284936	+	Silent	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:44284936G>C	ENST00000262888.3	-	1	473	c.78C>G	c.(76-78)gcC>gcG	p.A26A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	26					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GTGCCCAGCCGGCCAGAGACT	0.662000													62	67					0	0	0.00361006	0	0
ENO3	2027	broad.mit.edu	37	17	4857070	4857070	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:4857070A>T	ENST00000323997.6	+	6	506	c.374A>T	c.(373-375)gAg>gTg	p.E125V	ENO3_ENST00000518175.1_Missense_Mutation_p.E125V|ENO3_ENST00000519584.1_Missense_Mutation_p.E82V	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	125					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GGAGCAGCTGAGAAGGGGGTC	0.612000													47	56					0	0	0.00361006	0	0
ZNF569	148266	broad.mit.edu	37	19	37904635	37904635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:37904635G>A	ENST00000316950.6	-	6	1482	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.Q309*|ZNF569_ENST00000392150.2_Nonsense_Mutation_p.Q150*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTTGCTTCTGGCTGAATGCT	0.398000													61	47					0	0	0.00361006	0	0
CLVS1	157807	broad.mit.edu	37	8	62412013	62412013	+	Splice_Site	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:62412013G>T	ENST00000519846.1	+	7	1449		c.e7-1		CLVS1_ENST00000518592.1_Splice_Site|CLVS1_ENST00000325897.4_Splice_Site|CLVS1_ENST00000518858.1_Splice_Site			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTCTTGTTAGATCTCAGTCT	0.438000													39	47					3.76604e-16	1.04858e-15	0.0025221	1	0
DLEC1	9940	broad.mit.edu	37	3	38159040	38159040	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:38159040G>A	ENST00000308059.6	+	32	4444	c.4423G>A	c.(4423-4425)Ggc>Agc	p.G1475S	DLEC1_ENST00000346219.3_Missense_Mutation_p.G1475S|DLEC1_ENST00000452631.2_Missense_Mutation_p.G1478S			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1475					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGGACTACGGCGGCAGTAT	0.642000											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	50					0	0	0.00127121	0	0
ELOVL3	83401	broad.mit.edu	37	10	103986332	103986332	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:103986332T>C	ENST00000370005.3	+	1	248	c.27T>C	c.(25-27)caT>caC	p.H9H		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	9					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ATGTCTCACATGAAGTAAATC	0.517000													29	34					0	0	0.00106085	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34838884	34838884	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:34838884C>T	ENST00000192788.5	+	18	4143	c.3972C>T	c.(3970-3972)atC>atT	p.I1324I	UHRF1BP1_ENST00000452449.2_Silent_p.I1324I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1324										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ACTCCAGCATCACCCTAAAGG	0.517000													35	26					0	0	0.00128727	0	0
ATP11B	23200	broad.mit.edu	37	3	182545944	182545944	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:182545944G>A	ENST00000323116.5	+	3	441	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	ATP11B_ENST00000493826.1_Missense_Mutation_p.E61K	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	61					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAATTTATTTGAACAGTTCAG	0.224000													40	52					0	0	0.00285205	0	0
IP6K2	51447	broad.mit.edu	37	3	48726987	48726987	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:48726987C>A	ENST00000328631.5	-	5	987	c.764G>T	c.(763-765)cGt>cTt	p.R255L		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	255					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GCCACACACACGCACACCAAT	0.537000													16	41					2.23348e-06	5.87324e-06	0.00400662	1	0
PAAF1	80227	broad.mit.edu	37	11	73610248	73610248	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:73610248G>C	ENST00000544909.1	+	3	600	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	PAAF1_ENST00000544552.1_Missense_Mutation_p.G97R|PAAF1_ENST00000310571.3_Missense_Mutation_p.G114R|PAAF1_ENST00000536003.1_Missense_Mutation_p.G97R|PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000376384.5_Missense_Mutation_p.G97R			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	114					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TAGTACTGACGGGACCATGAA	0.418000													5	24					0	0	0.00198382	0	0
STIM1	6786	broad.mit.edu	37	11	4091330	4091330	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:4091330G>C	ENST00000300737.4	+	6	1257	c.688G>C	c.(688-690)Gcc>Ccc	p.A230P	STIM1_ENST00000527651.1_Missense_Mutation_p.A230P|STIM1_ENST00000533977.1_Missense_Mutation_p.A57P	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	230					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		CTGCTGGTTTGCCTATATCCA	0.522000													17	32					0	0	0.000958276	0	0
PRDM2	7799	broad.mit.edu	37	1	14106611	14106611	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:14106611A>C	ENST00000235372.7	+	8	3177	c.2321A>C	c.(2320-2322)aAa>aCa	p.K774T	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.K573T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.K774T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.K573T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	774						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAAAAATCCAAATTAGAAAGT	0.478000													16	32					0	0	0.00400662	0	0
NEB	4703	broad.mit.edu	37	2	152496552	152496552	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:152496552T>C	ENST00000427231.2	-	62	8910	c.8708A>G	c.(8707-8709)cAg>cGg	p.Q2903R	NEB_ENST00000603639.1_Missense_Mutation_p.Q2903R|NEB_ENST00000172853.10_Missense_Mutation_p.Q2903R|NEB_ENST00000409198.1_Missense_Mutation_p.Q2903R|NEB_ENST00000397345.3_Missense_Mutation_p.Q2903R|NEB_ENST00000604864.1_Missense_Mutation_p.Q2903R	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2903					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCTCATCCACTGGAGATCAGA	0.388000													40	10					0	0	0.00195071	0	0
SPINK4	27290	broad.mit.edu	37	9	33245129	33245129	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:33245129A>G	ENST00000379725.1	+	3	272	c.150A>G	c.(148-150)ggA>ggG	p.G50G	SPINK4_ENST00000379721.3_Silent_p.G27G|SPINK4_ENST00000379723.1_Silent_p.G50G			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	27	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGGCAGCAGGAAAGCTCCCTT	0.502000													10	23					0	0	0.000978159	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558695	140558695	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:140558695T>C	ENST00000239444.2	+	1	1325	c.1080T>C	c.(1078-1080)aaT>aaC	p.N360N		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		360	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACCTGAGAATGCGCCTGAAA	0.453000													40	338					0	0	0.00361006	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156918252	156918252	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:156918252A>G	ENST00000368194.3	-	23	3003	c.1964T>C	c.(1963-1965)cTc>cCc	p.L655P	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.L31P|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.L615P	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	615					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGGCCCTTGAGGCTTTCAGA	0.582000													26	20					0	0	0.00106085	0	0
CHD4	1108	broad.mit.edu	37	12	6704529	6704529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:6704529C>A	ENST00000309577.6	-	14	2255	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	CHD4_ENST00000357008.2_Nonsense_Mutation_p.E698*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.E695*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.E691*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	698					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGAGGCCTCTCCAACTTCCGA	0.498000													31	44					8.16721e-17	2.29652e-16	0.00209593	1	0
TICRR	90381	broad.mit.edu	37	15	90145134	90145134	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:90145134C>G	ENST00000268138.7	+	12	2599	c.2494C>G	c.(2494-2496)Cgt>Ggt	p.R832G	TICRR_ENST00000560985.1_Missense_Mutation_p.R831G					TOPBP1-interacting checkpoint and replication regulator																		GTCAAGTGCTCGTAGATCAGT	0.443000													23	52					0	0	0.00278032	0	0
AQP2	359	broad.mit.edu	37	12	50344871	50344871	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:50344871C>T	ENST00000199280.3	+	1	343	c.258C>T	c.(256-258)gcC>gcT	p.A86A		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	86					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						TTCTCCGAGCCGCCTTCTACG	0.672000													10	19					0	0	0.000442599	0	0
MAP1A	4130	broad.mit.edu	37	15	43821927	43821927	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:43821927G>A	ENST00000382031.1	+	6	8860	c.8829G>A	c.(8827-8829)aaG>aaA	p.K2943K	MAP1A_ENST00000300231.5_Silent_p.K2705K|MAP1A_ENST00000399453.1_Silent_p.K2705K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2705						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCAGTGGCAAGACTGCTGACC	0.557000													45	41					0	0	0.00285205	0	0
REST	5978	broad.mit.edu	37	4	57798295	57798295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:57798295G>T	ENST00000309042.7	+	4	3585	c.3271G>T	c.(3271-3273)Gaa>Taa	p.E1091*		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1091					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			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)					CTATCTTGAAGAAGCAGCTCA	0.353000													38	12					4.14481e-20	1.18106e-19	0.00128727	1	0
KIF11	3832	broad.mit.edu	37	10	94399643	94399643	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:94399643G>T	ENST00000260731.3	+	17	2343	c.2253G>T	c.(2251-2253)caG>caT	p.Q751H		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	751					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTAGTGTCCAGGAAAATATAC	0.303000													28	46					6.32553e-13	1.73291e-12	0.000720815	1	0
USP54	159195	broad.mit.edu	37	10	75277409	75277409	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:75277409T>C	ENST00000339859.4	-	19	2875	c.2775A>G	c.(2773-2775)tcA>tcG	p.S925S	USP54_ENST00000422491.2_Silent_p.S107S|USP54_ENST00000394811.2_Silent_p.S13S|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Silent_p.S775S|USP54_ENST00000408019.1_Silent_p.S925S|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	925					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGAAGCAGGTGAATGGAAGA	0.522000													19	24					0	0	0.00074312	0	0
SF3B1	23451	broad.mit.edu	37	2	198266837	198266837	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:198266837G>C	ENST00000335508.6	-	15	2186	c.2095C>G	c.(2095-2097)Cag>Gag	p.Q699E	SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGAACTTTCTGCTGCTCATCC	0.408000			Mis		myelodysplastic syndrome								23	8					0	0	0.00278032	0	0
DIAPH2	1730	broad.mit.edu	37	X	96213049	96213049	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:96213049C>T	ENST00000324765.8	+	16	2184	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	DIAPH2_ENST00000373054.4_Missense_Mutation_p.P609S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.P613S|DIAPH2_ENST00000373061.3_Missense_Mutation_p.P613S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	613	FH1.|Poly-Pro.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TGGAGGAGTTCCTCCTCCCCC	0.478000													18	5					0	0	0.00121646	0	0
SLC37A3	84255	broad.mit.edu	37	7	140058482	140058482	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:140058482G>T	ENST00000326232.9	-	6	682	c.479C>A	c.(478-480)cCc>cAc	p.P160H	SLC37A3_ENST00000340308.3_Missense_Mutation_p.P160H|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000447932.2_Missense_Mutation_p.P160H|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	160					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					AACCACACAGGGCCAACCAGT	0.498000													84	104					8.2577e-42	2.38494e-41	0.00361006	1	0
HFE2	148738	broad.mit.edu	37	1	145416381	145416381	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:145416381T>C	ENST00000336751.5	+	4	964	c.726T>C	c.(724-726)aaT>aaC	p.N242N	HFE2_ENST00000497365.1_Silent_p.N16N|HFE2_ENST00000357836.5_Silent_p.N129N|HFE2_ENST00000475797.1_Silent_p.N16N	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	242					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGTGGATAATCTTCCTGTAG	0.453000													67	42					0	0	0.00361006	0	0
ZNF106	64397	broad.mit.edu	37	15	42731273	42731273	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:42731273G>T	ENST00000263805.4	-	8	4759	c.4433C>A	c.(4432-4434)aCc>aAc	p.T1478N	ZNF106_ENST00000565611.1_Missense_Mutation_p.T663N|ZNF106_ENST00000565380.1_Missense_Mutation_p.T706N	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1			zinc finger protein 106																		AATTTCACTGGTAGAGCTAAC	0.393000													51	49					2.37032e-18	6.70936e-18	0.00361006	1	0
CELSR2	1952	broad.mit.edu	37	1	109815272	109815272	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:109815272G>T	ENST00000271332.3	+	30	8126	c.8065G>T	c.(8065-8067)Gca>Tca	p.A2689S	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2689					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGGAGTCCGCACTGAACCC	0.647000													7	24					1.26484e-09	3.41028e-09	0.00307968	1	0
TMEM181	57583	broad.mit.edu	37	6	159046174	159046174	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:159046174C>T	ENST00000367090.3	+	12	1415	c.1404C>T	c.(1402-1404)taC>taT	p.Y468Y		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	468					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		CAGCGGTGTACATTCTGTACC	0.547000													50	74					0	0	0.00361006	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494897	53494897	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:53494897C>T	ENST00000548547.1	+	3	829	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	IGFBP6_ENST00000301464.3_Missense_Mutation_p.L185F|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	185	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						GGCTCAAACACTCTACGTGCC	0.572000													24	22					0	0	0.00395357	0	0
OGDH	4967	broad.mit.edu	37	7	44747277	44747277	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:44747277T>A	ENST00000222673.5	+	22	2935	c.2893T>A	c.(2893-2895)Tac>Aac	p.Y965N	OGDH_ENST00000447398.1_Missense_Mutation_p.Y976N|OGDH_ENST00000444676.1_Missense_Mutation_p.Y980N|OGDH_ENST00000439616.2_Missense_Mutation_p.Y815N|OGDH_ENST00000543843.1_Missense_Mutation_p.Y916N|OGDH_ENST00000449767.1_Missense_Mutation_p.Y961N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	965					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GAACCAAGGCTACTATGACTA	0.597000													57	62					0	0	0.00361006	0	0
ABCA6	23460	broad.mit.edu	37	17	67132375	67132375	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:67132375C>T	ENST00000284425.2	-	4	492	c.318G>A	c.(316-318)ggG>ggA	p.G106G	ABCA6_ENST00000590645.1_Silent_p.G106G	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	106					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TATTTGGTGCCCCAATGACAC	0.313000													3	6					0	0	6.4e-05	0	0
CDH22	64405	broad.mit.edu	37	20	44815226	44815226	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:44815226C>T	ENST00000372262.3	-	9	2064		c.e9+1		CDH22_ENST00000537909.1_Splice_Site	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGGAGGCTCACCTTGGATGTC	0.592000													35	9					0	0	0.000953801	0	0
CBS	875	broad.mit.edu	37	21	44479365	44479365	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr21:44479365C>T	ENST00000398165.3	-	13	1453	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	CBS_ENST00000398158.1_Silent_p.K398K|CBS_ENST00000398168.1_Silent_p.K398K|CBS_ENST00000359624.3_Silent_p.K398K|CBS_ENST00000544202.1_Silent_p.K310K|CBS_ENST00000352178.5_Silent_p.K398K	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	398					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GGTCCTCCTCCTTCAGAAAGC	0.677000													45	41					0	0	0.00361006	0	0
PDXDC1	23042	broad.mit.edu	37	16	15125755	15125755	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:15125755G>A	ENST00000396410.4	+	17	1660	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	PDXDC1_ENST00000450288.2_Silent_p.G493G|PDXDC1_ENST00000569715.1_Silent_p.G494G|PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Silent_p.G539G|PDXDC1_ENST00000325823.7_Silent_p.G506G|PDXDC1_ENST00000447912.2_Silent_p.G430G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	521					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CTGGAATAGGGGTTGTCAGGT	0.463000													7	3					0	0	0.00307968	0	0
CDHR3	222256	broad.mit.edu	37	7	105615355	105615355	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:105615355G>A	ENST00000542731.1	+	2	220	c.112G>A	c.(112-114)Ggg>Agg	p.G38R	CDHR3_ENST00000541203.1_Missense_Mutation_p.G38R|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.G38R			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	38	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTCTCCACCTGGGACTTCAGT	0.478000													41	49					0	0	0.00111076	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847367	32847367	+	RNA	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:32847367C>G	ENST00000420261.1	-	0	258																											GCATCTTCATCATCACCCATC	0.428000													9	23					0	0	0.000274275	0	0
IFT46	56912	broad.mit.edu	37	11	118427757	118427757	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:118427757T>C	ENST00000264020.2	-	5	579	c.202A>G	c.(202-204)Aag>Gag	p.K68E	IFT46_ENST00000264021.3_Missense_Mutation_p.K17E|IFT46_ENST00000530872.1_Missense_Mutation_p.K68E	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	17					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GTCTTCTTCTTCTCCTGTGAT	0.423000													8	10					0	0	0.00307968	0	0
WNT10B	7480	broad.mit.edu	37	12	49364041	49364041	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:49364041C>T	ENST00000301061.4	-	3	516	c.168G>A	c.(166-168)aaG>aaA	p.K56K	WNT10B_ENST00000403957.1_Silent_p.K56K|WNT10B_ENST00000407467.1_Silent_p.K56K	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	56					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTAGCTGCCGCTTGCTCAGGC	0.662000													4	15					0	0	0.00024832	0	0
DST	667	broad.mit.edu	37	6	56473708	56473708	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:56473708T>C	ENST00000370754.5	-	39	5618	c.5619A>G	c.(5617-5619)ttA>ttG	p.L1873L	DST_ENST00000370769.4_Silent_p.L1695L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L1695L|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L1695L|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Silent_p.L1369L			Q03001	DYST_HUMAN	dystonin	1695					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)			CTTTAGAAAATAATGCTGAGG	0.403000													33	40					0	0	0.00283554	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673450	51673450	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:51673450G>T	ENST00000409535.2	+	12	2001	c.1876G>T	c.(1876-1878)Gat>Tat	p.D626Y	RAD54L2_ENST00000296477.3_Missense_Mutation_p.D320Y	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GAATCACCCTGATGTGCTGTA	0.532000													16	28					3.52763e-06	9.24782e-06	0.000566183	1	0
BPIFA1	51297	broad.mit.edu	37	20	31825634	31825634	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:31825634C>T	ENST00000354297.4	+	2	188	c.117C>T	c.(115-117)gcC>gcT	p.A39A	BPIFA1_ENST00000375422.2_Silent_p.A39A|BPIFA1_ENST00000375413.4_Silent_p.A39A	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	39					innate immune response	extracellular region	lipid binding										TGAATCCAGCCCTGCCCTTGA	0.562000													34	319					0	0	0.00428921	0	0
XAB2	56949	broad.mit.edu	37	19	7688160	7688160	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:7688160T>C	ENST00000358368.4	-	9	1172	c.1135A>G	c.(1135-1137)Aca>Gca	p.T379A	XAB2_ENST00000534844.1_Missense_Mutation_p.T376A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	379					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACAGCCTCTGTGTAGGTGTTG	0.597000								Direct reversal of damage;Nucleotide excision repair (NER)					28	34					0	0	0.00127121	0	0
PDHX	8050	broad.mit.edu	37	11	35016604	35016604	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:35016604G>A	ENST00000448838.3	+	11	1588	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	PDHX_ENST00000227868.4_Missense_Mutation_p.R464H|PDHX_ENST00000430469.2_Missense_Mutation_p.R237H|PDHX_ENST00000477173.3_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	464					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTGCAGCAGCGCCAGCTCATA	0.488000													20	54					0	0	0.00188189	0	0
TRANK1	9881	broad.mit.edu	37	3	36898806	36898806	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:36898806C>A	ENST00000301807.6	-	12	2522	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	TRANK1_ENST00000428977.2_Missense_Mutation_p.D209Y|TRANK1_ENST00000429976.2_Missense_Mutation_p.D759Y			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	759					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTGTTATCATCAGGCACAAGC	0.577000													110	138					7.8952e-62	2.29581e-61	0.00361006	1	0
CSPP1	79848	broad.mit.edu	37	8	68007747	68007747	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:68007747G>T	ENST00000262210.5	+	6	761	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	279						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TATTAAAAAAGCAAATGAAGA	0.378000													23	27					3.62473e-10	9.83526e-10	0.00188189	1	0
CIITA	4261	broad.mit.edu	37	16	11001118	11001118	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:11001118A>G	ENST00000324288.8	+	11	1902	c.1769A>G	c.(1768-1770)cAc>cGc	p.H590R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	590	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ATGACAGAGCACCAAGACAGA	0.612000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								15	17					0	0	0.00244969	0	0
TEX2	55852	broad.mit.edu	37	17	62272445	62272445	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:62272445T>G	ENST00000258991.3	-	3	1739	c.1655A>C	c.(1654-1656)aAt>aCt	p.N552T	TEX2_ENST00000583097.1_Missense_Mutation_p.N552T|TEX2_ENST00000584379.1_Missense_Mutation_p.N552T			Q8IWB9	TEX2_HUMAN	testis expressed 2	552					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GTAAATCTCATTCATCCATCC	0.378000													20	24					0	0	0.000958276	0	0
MON1B	22879	broad.mit.edu	37	16	77229558	77229558	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:77229558G>A	ENST00000320859.6	+	4	743	c.413G>A	c.(412-414)aGa>aAa	p.R138K	MON1B_ENST00000545553.1_Silent_p.E328E|MON1B_ENST00000439557.2_Silent_p.E365E|MON1B_ENST00000248248.3_Silent_p.E474E			Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	0							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACGTGGCTGAGAAGGAGACAC	0.587000													7	26					0	0	0.00307968	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909067	101909067	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:101909067C>G	ENST00000537097.1	+	6	1039	c.226C>G	c.(226-228)Cct>Gct	p.P76A	GPRASP1_ENST00000361600.5_Missense_Mutation_p.P76A|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P76A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.P76A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	76						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGGGCACGCCCTAAGAGTAA	0.522000													85	17					0	0	0.00361006	0	0
FOXN2	3344	broad.mit.edu	37	2	48573594	48573594	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:48573594A>G	ENST00000340553.3	+	3	502	c.241A>G	c.(241-243)Att>Gtt	p.I81V		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	81					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			GGGTCTTCCAATTGTTAGTCC	0.453000													31	25					0	0	0.00178596	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324158	136324158	+	Missense_Mutation	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:136324158C>A	ENST00000394945.1	-	8	1050	c.881G>T	c.(880-882)gGc>gTc	p.G294V	SPOCK1_ENST00000282223.7_Missense_Mutation_p.G294V|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	294					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAAAGCTTGCCATCCTTGAA	0.537000													28	64					3.1745e-13	8.75298e-13	0.001512	1	0
PNMA2	10687	broad.mit.edu	37	8	26365887	26365887	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:26365887C>T	ENST00000522362.2	-	3	1279	c.385G>A	c.(385-387)Gtg>Atg	p.V129M		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	129				GV -> AL (in Ref. 1; AAD02098).	apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gctggagacacgccctcctgc	0.542000													31	39					0	0	0.00178596	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449660	105449660	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:105449660C>G	ENST00000337685.2	+	5	1020	c.235C>G	c.(235-237)Cca>Gca	p.P79A	MUM1L1_ENST00000357175.2_Missense_Mutation_p.P79A|MUM1L1_ENST00000372552.1_Missense_Mutation_p.P79A	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	79										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGACAGTGCTCCACCTACAGA	0.398000													17	1					0	0	0.000566183	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675082	40675082	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:40675082A>C	ENST00000416151.2	+	1	161	c.46A>C	c.(46-48)Aca>Cca	p.T16P	KNSTRN_ENST00000249776.8_Missense_Mutation_p.T16P|KNSTRN_ENST00000448395.2_Missense_Mutation_p.T16P	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TTTCCGTACAACATGGCTGTC	0.582000													22	10					0	0	0.00152264	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													4	57					0	0	0.00024832	0	0
ZNF85	7639	broad.mit.edu	37	19	21132918	21132918	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:21132918C>T	ENST00000601023.1	+	2	2067	c.1421C>T	c.(1420-1422)aCt>aTt	p.T474I	ZNF85_ENST00000345030.6_Missense_Mutation_p.T500I|ZNF85_ENST00000328178.8_Missense_Mutation_p.T533I			Q03923	ZNF85_HUMAN	zinc finger protein 85	533						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAATTCATACTGGAGAGAAA	0.353000													14	25					0	0	0.00244969	0	0
MALSU1	115416	broad.mit.edu	37	7	23340520	23340520	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:23340520A>G	ENST00000466681.1	+	2	472	c.319A>G	c.(319-321)Aga>Gga	p.R107G	MALSU1_ENST00000479974.1_3'UTR	NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	107						mitochondrion											AGAAAATGCAAGAGACATTTG	0.408000													49	88					0	0	0.00361006	0	0
AGGF1	55109	broad.mit.edu	37	5	76326729	76326729	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:76326729C>T	ENST00000312916.7	+	1	520	c.138C>T	c.(136-138)atC>atT	p.I46I	AGGF1_ENST00000506806.1_Silent_p.I46I|AGGF1_ENST00000503538.1_Intron	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	46					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGCGGGAGATCGAGAAGCTGC	0.657000													23	43					0	0	0.00332997	0	0
ZNF574	64763	broad.mit.edu	37	19	42582872	42582872	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:42582872C>T	ENST00000600245.1	+	2	769	c.114C>T	c.(112-114)caC>caT	p.H38H	ZNF574_ENST00000222339.7_Silent_p.H128H|ZNF574_ENST00000359044.4_Silent_p.H38H|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	38					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AAAACTCCCACGTGCCCCAGC	0.572000													23	66					0	0	0.00229938	0	0
TUBA1C	84790	broad.mit.edu	37	12	49663420	49663420	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:49663420G>T	ENST00000301072.6	+	2	451	c.176G>T	c.(175-177)gGc>gTc	p.G59V	TUBA1C_ENST00000541364.1_Missense_Mutation_p.G129V|TUBA1C_ENST00000549183.1_Missense_Mutation_p.G59V|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	59					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						ACGGGTGCTGGCAAGCATGTG	0.552000													57	51					3.76628e-20	1.0768e-19	0.00361006	1	0
NOLC1	9221	broad.mit.edu	37	10	103921400	103921400	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:103921400C>T	ENST00000405356.1	+	11	2094	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	NOLC1_ENST00000605788.1_Missense_Mutation_p.T610I|NOLC1_ENST00000488254.2_Missense_Mutation_p.T611I|NOLC1_ENST00000603742.1_Missense_Mutation_p.T329I|NOLC1_ENST00000477977.1_3'UTR	NM_001284388.1	NP_001271317.1	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	610					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ACCCCTAACACATTTCCAAAA	0.433000													11	15					0	0	0.000673444	0	0
LINC00521	256369	broad.mit.edu	37	14	94464425	94464425	+	RNA	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:94464425C>T	ENST00000444118.1	+	0	105					NR_024182.1																						TGTCTTCATCCTGCCTGACTC	0.567000													3	7					0	0	6.4e-05	0	0
ITGB6	3694	broad.mit.edu	37	2	160958320	160958320	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:160958320G>A	ENST00000283249.2	-	15	2531	c.2294C>T	c.(2293-2295)tCc>tTc	p.S765F	ITGB6_ENST00000409967.2_Missense_Mutation_p.S658F|ITGB6_ENST00000409872.1_Missense_Mutation_p.S765F|ITGB6_ENST00000428609.2_Missense_Mutation_p.S723F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	765					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGTACTTGTGGATCCTCTGTA	0.308000													24	2					0	0	0.00278032	0	0
KCNQ5	56479	broad.mit.edu	37	6	73830216	73830216	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:73830216G>A	ENST00000342056.2	+	8	1534	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	KCNQ5_ENST00000355635.3_Missense_Mutation_p.R379H|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R379H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R379H|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R379H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R379H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R379H|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R379H	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	379					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGTGTTTGGCGTAGTTACGCA	0.418000													14	24					0	0	0.00244969	0	0
MUT	4594	broad.mit.edu	37	6	49425684	49425684	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:49425684C>T	ENST00000274813.3	-	3	600	c.473G>A	c.(472-474)gGa>gAa	p.G158E		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	158			G -> V (in MMAM; mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAGCCATTCCAACATCACC	0.408000													31	23					0	0	0.00375469	0	0
RBM5	10181	broad.mit.edu	37	3	50150944	50150944	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:50150944G>A	ENST00000347869.3	+	18	1759	c.1584G>A	c.(1582-1584)aaG>aaA	p.K528K		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	528	Required for interaction with U2AF2.|Sufficient for interaction with ACIN1, PRPF8, SFRS3, SNRPB, SNRPN, SNRNP70 and SNRNP200.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAAGAGAAGAAGGAGAAAC	0.502000													17	29					0	0	0.00400662	0	0
PLXNA4	91584	broad.mit.edu	37	7	131815255	131815255	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:131815255T>C	ENST00000359827.3	-	32	6630	c.5668A>G	c.(5668-5670)Atg>Gtg	p.M1890V	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M1890V			Q9HCM2	PLXA4_HUMAN	plexin A4	1890						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCTAAGCTCATGAGGGTTATG	0.537000													15	50					0	0	0.00400662	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834432	101834432	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:101834432T>A	ENST00000263468.8	+	6	2936	c.2666T>A	c.(2665-2667)aTa>aAa	p.I889K	KIAA1377_ENST00000537689.1_Missense_Mutation_p.I690K	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	889							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCGCAAAAATAAATCATTCA	0.418000													27	20					0	0	0.000878237	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	88					0	0	0.00024832	0	0
SLC36A4	120103	broad.mit.edu	37	11	92916061	92916061	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:92916061C>T	ENST00000326402.4	-	4	401		c.e4-1		SLC36A4_ENST00000529184.1_Splice_Site	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGGTCCAAGCTGTGGGGAAA	0.323000													20	17					0	0	0.00152264	0	0
SLC38A2	54407	broad.mit.edu	37	12	46759034	46759034	+	Silent	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:46759034T>G	ENST00000551374.1	-	1	56	c.16A>C	c.(16-18)Aga>Cga	p.R6R	SLC38A2_ENST00000547252.1_Intron|SLC38A2_ENST00000256689.5_Intron			Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	0	Regulates protein turnover upon amino acid deprivation (By similarity).				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		TATACACATCTTCTAACAGGA	0.333000													15	13					0	0	0.00316338	0	0
ZMYM2	7750	broad.mit.edu	37	13	20635276	20635276	+	Silent	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:20635276T>G	ENST00000382869.3	+	17	3074	c.2823T>G	c.(2821-2823)gtT>gtG	p.V941V	ZMYM2_ENST00000382874.2_Silent_p.V941V|ZMYM2_ENST00000382871.2_Silent_p.V941V	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAAGCAAGGTTTCTTCAGATG	0.433000													5	14					0	0	0.000602214	0	0
RHBDF2	79651	broad.mit.edu	37	17	74467778	74467778	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:74467778G>A	ENST00000591885.1	-	19	2971	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	RHBDF2_ENST00000313080.4_Silent_p.L836L|RHBDF2_ENST00000389760.4_Silent_p.L807L			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	836					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GGAAGCAGGTGAGGTGCTCGA	0.632000													5	7					0	0	0.000602214	0	0
KRT27	342574	broad.mit.edu	37	17	38935853	38935853	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:38935853A>G	ENST00000301656.3	-	5	913	c.873T>C	c.(871-873)tcT>tcC	p.S291S		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	291	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGCGTCGTCAGAGATCTGCT	0.617000													31	35					0	0	0.00209593	0	0
F13A1	2162	broad.mit.edu	37	6	6152127	6152127	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:6152127T>G	ENST00000264870.3	-	14	2229	c.1964A>C	c.(1963-1965)aAt>aCt	p.N655T		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	655					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTTTAAAGGATTGGTAAACTC	0.458000													22	12					0	0	0.00278032	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032601	46032601	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr21:46032601C>T	ENST00000334662.2	+	1	606	c.584C>T	c.(583-585)cCg>cTg	p.P195L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	195	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						AGCTGCCAGCCGGCTTGCTGC	0.652000													116	136					0	0	0.00361006	0	0
F12	2161	broad.mit.edu	37	5	176831363	176831363	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:176831363C>T	ENST00000253496.3	-	9	900	c.852G>A	c.(850-852)cgG>cgA	p.R284R		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	284	Kringle.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGCTCAGCCGGTCGCGGT	0.697000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	17					0	0	0.000673444	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247307	89247307	+	RNA	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:89247307C>G	ENST00000496168.1	-	0	168																											TGTGTCCTGACTGGGTCTGAC	0.562000													4	119					0	0	0.00116845	0	0
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:19992447G>A	ENST00000289753.1	+	1	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTGGTGTCGCTCTTCACGT	0.682000													10	21					0	0	0.000442599	0	0
TRPV2	51393	broad.mit.edu	37	17	16321006	16321006	+	Silent	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:16321006A>T	ENST00000338560.7	+	2	423	c.24A>T	c.(22-24)ccA>ccT	p.P8P	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	8	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCAGCTCTCCAGTTTTCAGGT	0.577000													25	34					0	0	0.00395357	0	0
KIAA1279	26128	broad.mit.edu	37	10	70775967	70775967	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:70775967A>C	ENST00000361983.4	+	7	1763	c.1661A>C	c.(1660-1662)tAt>tCt	p.Y554S		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	554					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCCCGTCTCTATGGCAAAATC	0.408000													34	42					0	0	0.00283554	0	0
RLBP1	6017	broad.mit.edu	37	15	89760487	89760487	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:89760487C>T	ENST00000268125.5	-	5	649	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	70					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CCTGCGCCTGCACCATCTCCT	0.642000													49	36					0	0	0.00361006	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													18	97					0	0	0.00332997	0	0
EPAS1	2034	broad.mit.edu	37	2	46609650	46609650	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:46609650G>A	ENST00000263734.3	+	15	2884	c.2374G>A	c.(2374-2376)Ggg>Agg	p.G792R		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	792					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CATCAGTCCCGGGGAGAACAG	0.602000													21	70					0	0	0.00121646	0	0
SLC25A38	54977	broad.mit.edu	37	3	39435938	39435938	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:39435938C>T	ENST00000273158.4	+	6	1040	c.663C>T	c.(661-663)ttC>ttT	p.F221F		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	221					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTACAAATTTCAGCTGTGGGA	0.393000													105	147					0	0	0.00361006	0	0
KANK1	23189	broad.mit.edu	37	9	712554	712554	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:712554A>C	ENST00000382303.1	+	7	2440	c.1788A>C	c.(1786-1788)gaA>gaC	p.E596D	KANK1_ENST00000382293.3_Missense_Mutation_p.E438D|KANK1_ENST00000382297.2_Missense_Mutation_p.E596D|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	596					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGAGTGTGGAAGTCAGCGTCT	0.493000													14	50					0	0	0.00244969	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327654	88327654	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:88327654G>C	ENST00000325089.6	+	2	230	c.11G>C	c.(10-12)tGc>tCc	p.C4S	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	4						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATGCACACTTGCTGCCCCCCA	0.423000													15	50					0	0	0.00400662	0	0
TFRC	7037	broad.mit.edu	37	3	195802070	195802070	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:195802070G>A	ENST00000360110.4	-	3	367	c.198C>T	c.(196-198)atC>atT	p.I66I	TFRC_ENST00000392396.3_Silent_p.I66I|TFRC_ENST00000420415.1_Intron|TFRC_ENST00000540528.1_Intron|TFRC_ENST00000535031.1_Intron	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	66	Mediates interaction with SH3BP4.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		TCCCATAGCAGATACTTCCAC	0.383000			T	BCL6	NHL								50	52					0	0	0.00361006	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													4	44					0	0	0.00024832	0	0
GEMIN2	8487	broad.mit.edu	37	14	39583591	39583591	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:39583591C>T	ENST00000308317.6	+	1	165	c.82C>T	c.(82-84)Cta>Tta	p.L28L	GEMIN2_ENST00000396249.2_Silent_p.L28L|GEMIN2_ENST00000250379.8_Silent_p.L28L	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	28					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										GATGCCTCGGCTATTGCCGGT	0.597000													27	10					0	0	0.000878237	0	0
NYAP1	222950	broad.mit.edu	37	7	100084671	100084671	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:100084671G>A	ENST00000423930.1	+	3	455	c.296G>A	c.(295-297)gGc>gAc	p.G99D	NYAP1_ENST00000300179.2_Missense_Mutation_p.G99D|NYAP1_ENST00000454988.1_Missense_Mutation_p.G42D			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	99																	GGTGGCCCTGGCGGGGCCAGT	0.721000													14	17					0	0	0.00244969	0	0
EXD3	54932	broad.mit.edu	37	9	140242555	140242555	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:140242555C>G	ENST00000340951.4	-	17	2161	c.1966G>C	c.(1966-1968)Ggc>Cgc	p.G656R	EXD3_ENST00000342129.4_Missense_Mutation_p.G307R	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	656					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TCACCATTGCCCAGCATGCGT	0.662000													4	9					0	0	0.00116845	0	0
UNC93B1	81622	broad.mit.edu	37	11	67770563	67770563	+	Silent	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:67770563G>T	ENST00000227471.2	-	3	400	c.321C>A	c.(319-321)atC>atA	p.I107I	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	107					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TTTTGCTGTCGATGTCGGGCA	0.607000													11	13					1.58986e-06	4.20672e-06	0.000673444	1	0
COL6A5	256076	broad.mit.edu	37	3	130159037	130159037	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:130159037G>A	ENST00000265379.6	+	35	6349	c.5855G>A	c.(5854-5856)cGa>cAa	p.R1952Q	COL6A5_ENST00000432398.2_Missense_Mutation_p.R1952Q			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1952	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCTTGCATTCGAGAGGCTTTC	0.393000													12	13					0	0	0.00136819	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													5	40					0	0	0.00198382	0	0
DEFB135	613209	broad.mit.edu	37	8	11841963	11841963	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:11841963T>G	ENST00000382208.2	+	2	98	c.98T>G	c.(97-99)aTc>aGc	p.I33S		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	33					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						ATACAAAAAATCTTTGCTTCA	0.383000													24	42					0	0	0.00278032	0	0
PRDX4	10549	broad.mit.edu	37	X	23693164	23693164	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chrX:23693164A>T	ENST00000379341.4	+	3	542	c.417A>T	c.(415-417)agA>agT	p.R139S	PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_Missense_Mutation_p.R139S	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	139	Thioredoxin.				cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAGAATTCAGATCTATAAATA	0.338000													47	5					0	0	0.00361006	0	0
ABHD11	83451	broad.mit.edu	37	7	73151295	73151295	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:73151295G>T	ENST00000222800.3	-	5	848	c.779C>A	c.(778-780)aCa>aAa	p.T260K	ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000437775.2_Missense_Mutation_p.T253K|ABHD11_ENST00000395147.4_Missense_Mutation_p.T203K	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	260							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAGAAAGAGTGTTGGCCCGAG	0.597000													74	118					3.12118e-38	8.98395e-38	0.00361006	1	0
FANCM	57697	broad.mit.edu	37	14	45644762	45644762	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:45644762T>C	ENST00000267430.5	+	14	2890	c.2805T>C	c.(2803-2805)agT>agC	p.S935S	FANCM_ENST00000542564.2_Silent_p.S909S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	935					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AATCCACTAGTTCACTTGCTG	0.303000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				16	44					0	0	0.00074312	0	0
HIPK3	10114	broad.mit.edu	37	11	33374986	33374986	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:33374986C>T	ENST00000303296.4	+	17	3825	c.3520C>T	c.(3520-3522)Cca>Tca	p.P1174S	HIPK3_ENST00000525975.1_Missense_Mutation_p.P1153S|HIPK3_ENST00000379016.3_Missense_Mutation_p.P1153S|HIPK3_ENST00000456517.1_Missense_Mutation_p.P1153S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1174					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCGTCTGTTACCATCCCCAAC	0.458000													26	86					0	0	0.00395357	0	0
ANO6	196527	broad.mit.edu	37	12	45751191	45751191	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:45751191G>A	ENST00000320560.8	+	8	1184	c.982G>A	c.(982-984)Gat>Aat	p.D328N	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Missense_Mutation_p.D310N|ANO6_ENST00000425752.2_Missense_Mutation_p.D328N|ANO6_ENST00000435642.1_Missense_Mutation_p.D328N|ANO6_ENST00000423947.3_Missense_Mutation_p.D349N	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	328					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TCTTAATCAAGATAACTGTAC	0.383000													34	25					0	0	0.0024448	0	0
ULK1	8408	broad.mit.edu	37	12	132393275	132393275	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:132393275A>G	ENST00000321867.4	+	6	754	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	135	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CAAAGGCATCATCCACCGCGA	0.672000													6	10					0	0	0.00198382	0	0
CR1	1378	broad.mit.edu	37	1	207758089	207758089	+	Missense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:207758089T>A	ENST00000367049.4	+	33	5398	c.5398T>A	c.(5398-5400)Tgt>Agt	p.C1800S	CR1_ENST00000367052.1_Missense_Mutation_p.C1350S|CR1_ENST00000367053.1_Missense_Mutation_p.C1350S|CR1_ENST00000367051.1_Missense_Mutation_p.C1350S|CR1_ENST00000400960.2_Missense_Mutation_p.C1350S|RP11-78B10.2_ENST00000596003.1_RNA|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1350	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATCTTACACATGTGACCCCCA	0.498000													30	45					0	0	0.00106085	0	0
AP5B1	91056	broad.mit.edu	37	11	65545451	65545451	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:65545451G>A	ENST00000532090.2	-	2	2723	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	781							protein binding			lung(1)	1						CAGCAGCTTTGAGTCCGGGGG	0.682000													7	6					0	0	0.00198382	0	0
PRODH	5625	broad.mit.edu	37	22	18905905	18905905	+	Silent	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:18905905G>T	ENST00000357068.6	-	11	1616	c.1351C>A	c.(1351-1353)Cga>Aga	p.R451R	PRODH_ENST00000420436.1_Silent_p.R343R|PRODH_ENST00000334029.2_Silent_p.R343R	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	451					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCACGGGCTCGCTCCTGGGCC	0.652000													19	26					2.94398e-08	7.88765e-08	0.000958276	1	0
NEBL	10529	broad.mit.edu	37	10	21097571	21097571	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:21097571T>C	ENST00000377122.4	-	26	3025	c.2629A>G	c.(2629-2631)Agg>Ggg	p.R877G	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	877	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CAGTGTCGCCTATAGTGACTC	0.408000													30	60					0	0	0.00209593	0	0
ZNF232	7775	broad.mit.edu	37	17	5012239	5012239	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:5012239G>C	ENST00000250076.3	-	4	1261	c.607C>G	c.(607-609)Cag>Gag	p.Q203E	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.Q203E|ZNF232_ENST00000575538.1_5'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	176					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GGGAAAGGCTGGGTCTCCTTA	0.547000													65	82					0	0	0.00361006	0	0
CAD	790	broad.mit.edu	37	2	27454972	27454972	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:27454972G>A	ENST00000264705.4	+	17	2687	c.2525G>A	c.(2524-2526)cGt>cAt	p.R842H	CAD_ENST00000464159.1_3'UTR|CAD_ENST00000403525.1_Missense_Mutation_p.R779H	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	842	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGAATGAAGCGTATCATCGCA	0.557000													14	52					0	0	0.00244969	0	0
NCOA7	135112	broad.mit.edu	37	6	126210363	126210363	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:126210363C>T	ENST00000368357.3	+	10	1515	c.1163C>T	c.(1162-1164)aCt>aTt	p.T388I	NCOA7_ENST00000229634.9_Missense_Mutation_p.T273I|NCOA7_ENST00000392477.2_Missense_Mutation_p.T388I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	388					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CCCACAGTGACTAAGCTCAGC	0.448000													24	41					0	0	0.00229938	0	0
ANGPTL4	51129	broad.mit.edu	37	19	8431098	8431098	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:8431098G>A	ENST00000301455.2	+	3	613	c.442G>A	c.(442-444)Gac>Aac	p.D148N	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.D148N	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	148					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TGGCCTCCTGGACCACAAGCA	0.637000													25	34					0	0	0.00332997	0	0
SEMA5B	54437	broad.mit.edu	37	3	122641124	122641124	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:122641124A>G	ENST00000195173.4	-	11	1746	c.1443T>C	c.(1441-1443)gcT>gcC	p.A481A	SEMA5B_ENST00000357599.3_Silent_p.A481A|SEMA5B_ENST00000451055.2_Silent_p.A535A			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	481	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GCGTGTCTTTAGCCTGCACCA	0.652000													5	12					0	0	0.000602214	0	0
CSMD2	114784	broad.mit.edu	37	1	34046411	34046411	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:34046411G>T	ENST00000373381.4	-	48	7505	c.7329C>A	c.(7327-7329)taC>taA	p.Y2443*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2445	CUB 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACCAACGCAGGTACACAGAGT	0.512000													16	29					1.5739e-10	4.28422e-10	0.00400662	1	0
CD1B	910	broad.mit.edu	37	1	158299775	158299775	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:158299775C>G	ENST00000368168.3	-	3	581	c.474G>C	c.(472-474)agG>agC	p.R158S		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	158					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATTTCTGTGCCCTGCTGCCAC	0.488000													29	82					0	0	0.000878237	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20126764	20126764	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:20126764A>G	ENST00000334554.7	+	2	293	c.152A>G	c.(151-153)aAt>aGt	p.N51S	ZDHHC8_ENST00000320602.7_Missense_Mutation_p.N51S|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.N51S|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	51						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCGTCTACAATGGCATCATC	0.607000													32	61					0	0	0.00209593	0	0
HMCN1	83872	broad.mit.edu	37	1	185931772	185931772	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:185931772T>C	ENST00000271588.4	+	12	2180	c.1951T>C	c.(1951-1953)Ttt>Ctt	p.F651L	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.F651L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	651	Ig-like C2-type 3.				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						TAACGATATGTTTATCGTGGG	0.413000													27	76					0	0	0.00127121	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814402	23814402	+	Nonsense_Mutation	SNP	T	T	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:23814402T>A	ENST00000264867.2	-	10	2106	c.1987A>T	c.(1987-1989)Aag>Tag	p.K663*	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	663					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCCCTTTGCTTGGCCCTCTCA	0.458000													52	64					0	0	0.00361006	0	0
FER	2241	broad.mit.edu	37	5	108133901	108133901	+	Translation_Start_Site	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:108133901C>A	ENST00000438717.2	+	0	87				FER_ENST00000502752.1_3'UTR|FER_ENST00000281092.4_Missense_Mutation_p.D6E|FER_ENST00000536402.1_Missense_Mutation_p.D6E			P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTGGGAGTGACCTGAAGAATT	0.388000													27	52					8.16721e-17	2.29652e-16	0.00209593	1	0
CUL7	9820	broad.mit.edu	37	6	43014672	43014672	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:43014672C>G	ENST00000535468.1	-	10	2681	c.2595G>C	c.(2593-2595)aaG>aaC	p.K865N	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Missense_Mutation_p.K781N	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	781	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGTGGGCATGCTTCTCACACT	0.562000													15	38					0	0	0.00316338	0	0
CSF1R	1436	broad.mit.edu	37	5	149460527	149460527	+	Missense_Mutation	SNP	G	G	A	rs139635308		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:149460527G>A	ENST00000286301.3	-	3	401	c.110C>T	c.(109-111)aCg>aTg	p.T37M	CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	37	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.T37M(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAAGGTCACCGTTGCTCCTGG	0.597000													10	27					0	0	0.000442599	0	0
SGCG	6445	broad.mit.edu	37	13	23824816	23824816	+	Silent	SNP	G	G	A	rs1800352		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:23824816G>A	ENST00000218867.3	+	4	469	c.345G>A	c.(343-345)gcG>gcA	p.A115A	SGCG_ENST00000545013.1_Silent_p.A115A|SGCG_ENST00000537476.1_Silent_p.A115A	NM_000231.2	NP_000222	Q13326	SGCG_HUMAN	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)	115					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		CTGTAAATGCGCGCAACTCAG	0.403000													3	13					0	0	6.4e-05	0	0
WDR36	134430	broad.mit.edu	37	5	110461459	110461459	+	Missense_Mutation	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr5:110461459A>G	ENST00000506538.2	+	22	3245	c.2672A>G	c.(2671-2673)gAg>gGg	p.E891G	WDR36_ENST00000513710.2_Missense_Mutation_p.E891G	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	891					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CGTGATTTTGAGTTAGCCCAG	0.453000													35	52					0	0	0.00111076	0	0
FILIP1	27145	broad.mit.edu	37	6	76063419	76063419	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:76063419C>T	ENST00000393004.2	-	4	686	c.465G>A	c.(463-465)gaG>gaA	p.E155E	FILIP1_ENST00000237172.7_Silent_p.E155E|FILIP1_ENST00000370020.1_Silent_p.E56E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	155										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTGTTTTTCCTCAAGTCTGT	0.438000													26	31					0	0	0.00395357	0	0
ACHE	43	broad.mit.edu	37	7	100490874	100490874	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:100490874C>G	ENST00000302913.4	-	2	1118	c.980G>C	c.(979-981)cGg>cCg	p.R327P	ACHE_ENST00000412389.1_Missense_Mutation_p.R327P|ACHE_ENST00000411582.1_Missense_Mutation_p.R327P|ACHE_ENST00000428317.1_Missense_Mutation_p.R327P|ACHE_ENST00000419336.2_Missense_Mutation_p.R327P|ACHE_ENST00000241069.5_Missense_Mutation_p.R327P	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	327					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GAAGGAGAACCGGAAGACGCT	0.597000													13	23					0	0	0.00136819	0	0
HEPHL1	341208	broad.mit.edu	37	11	93819162	93819162	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:93819162T>C	ENST00000315765.9	+	11	1895	c.1887T>C	c.(1885-1887)taT>taC	p.Y629Y		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	629	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCTACATGTATGGCAACCAGC	0.413000													11	19					0	0	0.000978159	0	0
EPS8	2059	broad.mit.edu	37	12	15811450	15811450	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:15811450T>G	ENST00000281172.5	-	11	1443	c.1007A>C	c.(1006-1008)aAa>aCa	p.K336T	EPS8_ENST00000540613.1_Missense_Mutation_p.K76T|EPS8_ENST00000543612.1_Missense_Mutation_p.K336T|EPS8_ENST00000542903.1_Missense_Mutation_p.K76T|EPS8_ENST00000543523.1_Missense_Mutation_p.K336T	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	336					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AAATCCGTGTTTAAACTTTTG	0.353000													21	43					0	0	0.00152264	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619473	64619473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:64619473G>A	ENST00000498707.1	-	13	2281	c.1939C>T	c.(1939-1941)Cga>Tga	p.R647*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.R619*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	647	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGGAAGTCTCGCTTCTGCTTG	0.438000													19	131					0	0	0.000958276	0	0
ZHX3	23051	broad.mit.edu	37	20	39832703	39832703	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:39832703T>C	ENST00000309060.3	-	4	1269	c.854A>G	c.(853-855)cAt>cGt	p.H285R	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.H285R|ZHX3_ENST00000432768.2_Missense_Mutation_p.H285R|ZHX3_ENST00000540170.1_Missense_Mutation_p.H285R|ZHX3_ENST00000544979.2_Missense_Mutation_p.H285R|ZHX3_ENST00000559234.1_Missense_Mutation_p.H285R|ZHX3_ENST00000558993.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	285	Required for homodimerization and interaction with NFYA.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CTGGTGGACATGGTGTTGGGC	0.597000													21	226					0	0	0.00152264	0	0
ACER3	55331	broad.mit.edu	37	11	76731359	76731359	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:76731359C>T	ENST00000532485.1	+	11	896	c.792C>T	c.(790-792)ctC>ctT	p.L264L	ACER3_ENST00000526597.1_Silent_p.L169L|ACER3_ENST00000538157.1_Silent_p.L222L|ACER3_ENST00000544113.1_Silent_p.L131L|ACER3_ENST00000533873.1_Silent_p.L227L	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	264					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TTGAGCCTCTCAGGAAGCATT	0.388000													19	23					0	0	0.00278032	0	0
TST	7263	broad.mit.edu	37	22	37414714	37414714	+	Silent	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:37414714G>A	ENST00000403892.3	-	1	794	c.60C>T	c.(58-60)atC>atT	p.I20I	TST_ENST00000249042.3_Silent_p.I20I	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	20					cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						TGCCAGTCCTGATGGACTCCG	0.667000													6	10					0	0	0.00198382	0	0
KCNJ11	3767	broad.mit.edu	37	11	17408985	17408985	+	Missense_Mutation	SNP	C	C	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:17408985C>G	ENST00000339994.4	-	1	1221	c.654G>C	c.(652-654)caG>caC	p.Q218H	KCNJ11_ENST00000528731.1_Missense_Mutation_p.Q131H	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	131						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGCGTACCACCTGCATGTGGA	0.642000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	22					0	0	0.00185496	0	0
CENPT	80152	broad.mit.edu	37	16	67863881	67863881	+	Missense_Mutation	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:67863881G>C	ENST00000562787.1	-	12	1521	c.973C>G	c.(973-975)Ccc>Gcc	p.P325A	CENPT_ENST00000440851.2_Missense_Mutation_p.P325A|CENPT_ENST00000219172.3_Missense_Mutation_p.P325A|CENPT_ENST00000564817.1_Missense_Mutation_p.P325A	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	325					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGTGTAAGGGCTCTACTTCA	0.532000													46	67					0	0	0.00361006	0	0
ANKMY2	57037	broad.mit.edu	37	7	16666775	16666775	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:16666775G>A	ENST00000306999.2	-	3	404	c.161C>T	c.(160-162)gCa>gTa	p.A54V	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	54						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCTTTATATGCTGCATGCAT	0.353000													12	19					0	0	0.00244969	0	0
CFAP221	200373	broad.mit.edu	37	2	120395922	120395922	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr2:120395922T>C	ENST00000602047.1	+	21	2316	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	PCDP1_ENST00000413369.3_Missense_Mutation_p.Y688H			Q4G0U5	PCDP1_HUMAN		688						cilium	calmodulin binding					Colorectal(110;0.196)					TCACCCCAAGTACAAATTCAC	0.488000													45	7					0	0	0.0025221	0	0
NLRP7	199713	broad.mit.edu	37	19	55449488	55449488	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:55449488T>C	ENST00000446217.1	-	7	2539	c.2137A>G	c.(2137-2139)Agc>Ggc	p.S713G	NLRP7_ENST00000340844.2_Missense_Mutation_p.S685G|NLRP7_ENST00000592784.1_Missense_Mutation_p.S685G|NLRP7_ENST00000590030.1_Missense_Mutation_p.S685G|NLRP7_ENST00000448121.2_Missense_Mutation_p.S657G|NLRP7_ENST00000328092.5_Missense_Mutation_p.S657G|NLRP7_ENST00000588756.1_Missense_Mutation_p.S685G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	685							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGGAAGCTTTGTTTCACT	0.493000													73	150					0	0	0.00361006	0	0
SSRP1	6749	broad.mit.edu	37	11	57099224	57099224	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:57099224G>A	ENST00000278412.2	-	9	1407	c.1141C>T	c.(1141-1143)Cgt>Tgt	p.R381C		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	381					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTGGTACCACGAGCAAAGTTG	0.517000													4	27					0	0	0.00024832	0	0
DST	667	broad.mit.edu	37	6	56323851	56323851	+	Silent	SNP	G	G	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:56323851G>C	ENST00000370754.5	-	102	23204	c.23205C>G	c.(23203-23205)ccC>ccG	p.P7735P	DST_ENST00000370769.4_Silent_p.P7557P|DST_ENST00000244364.6_Silent_p.P5156P|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.P5360P|DST_ENST00000361203.3_Silent_p.P7446P|DST_ENST00000421834.2_Silent_p.P5442P|DST_ENST00000446842.2_Silent_p.P7231P			Q03001	DYST_HUMAN	dystonin	7555					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)			ATTTCCTCTGGGGCGTGGGGA	0.502000													38	41					0	0	0.00428921	0	0
SNAPC4	6621	broad.mit.edu	37	9	139276733	139276733	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:139276733G>A	ENST00000298532.2	-	16	2407	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	680					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AGCCGTGTTGGCCCTGAGCAC	0.672000													18	10					0	0	0.00152264	0	0
ZNF160	90338	broad.mit.edu	37	19	53571970	53571970	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:53571970G>A	ENST00000601421.1	-	3	2585	c.1709C>T	c.(1708-1710)tCa>tTa	p.S570L	ZNF160_ENST00000599056.1_Missense_Mutation_p.S606L|ZNF160_ENST00000429604.1_Missense_Mutation_p.S606L|ZNF160_ENST00000418871.1_Missense_Mutation_p.S606L			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	606					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AGTTAGGCTTGAACGATCACT	0.413000													32	54					0	0	0.0024448	0	0
PRDM2	7799	broad.mit.edu	37	1	14106615	14106615	+	Silent	SNP	A	A	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:14106615A>G	ENST00000235372.7	+	8	3181	c.2325A>G	c.(2323-2325)ttA>ttG	p.L775L	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Silent_p.L574L|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.L775L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L574L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	775						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AATCCAAATTAGAAAGTCACA	0.473000													17	29					0	0	0.00400662	0	0
ZNF90	7643	broad.mit.edu	37	19	20229941	20229941	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:20229941A>T	ENST00000418063.2	+	4	1690	c.1578A>T	c.(1576-1578)aaA>aaT	p.K526N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	526						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCCTTAGTAAACATAAGATAA	0.418000													16	15					0	0	0.00074312	0	0
A2ML1	144568	broad.mit.edu	37	12	9009905	9009905	+	Silent	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:9009905C>T	ENST00000299698.7	+	24	3174	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	A2ML1_ENST00000539547.1_Silent_p.I507I	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	842						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGAGGAGATCAGGTCTCGGG	0.507000													35	100					0	0	0.00327116	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788313	21788313	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:21788313T>C	ENST00000206660.6	+	11	1444	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L	RPGRIP1_ENST00000382933.4_Silent_p.L124L|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Silent_p.L455L|RPGRIP1_ENST00000557771.1_Silent_p.L455L|RPGRIP1_ENST00000400017.2_Silent_p.L482L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	482					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCCAGCTGTATTGCAAGAGAA	0.458000													11	6					0	0	0.00136819	0	0
OSBPL7	114881	broad.mit.edu	37	17	45897102	45897102	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:45897102C>T	ENST00000007414.3	-	4	439	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	OSBPL7_ENST00000392507.3_Missense_Mutation_p.R83Q	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	83	PH.				lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CACGTCTTGCCGGGTTGTTGC	0.607000													8	150					0	0	0.000274275	0	0
FRMD4A	55691	broad.mit.edu	37	10	13804668	13804668	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:13804668C>T	ENST00000357447.2	-	7	765	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FRMD4A_ENST00000358621.4_Missense_Mutation_p.V118I|FRMD4A_ENST00000342409.2_Missense_Mutation_p.V149I|FRMD4A_ENST00000378503.1_Missense_Mutation_p.V133I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	133	FERM.					cytoplasm|cytoskeleton	binding	p.V133F(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TCGCTGTCAACGTCAATAAGC	0.373000													9	11					0	0	0.000274275	0	0
UCHL5	51377	broad.mit.edu	37	1	193020932	193020932	+	Missense_Mutation	SNP	T	T	G			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:193020932T>G	ENST00000367455.4	-	2	327	c.92A>C	c.(91-93)cAa>cCa	p.Q31P	UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367451.4_Missense_Mutation_p.Q31P|UCHL5_ENST00000367454.1_Missense_Mutation_p.Q31P|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367448.1_Missense_Mutation_p.Q31P|UCHL5_ENST00000367449.1_Missense_Mutation_p.Q31P|UCHL5_ENST00000483156.1_5'UTR	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						TTCTTCTACTTGGGCTCCTCG	0.254000													14	65					0	0	0.00400662	0	0
ALG5	29880	broad.mit.edu	37	13	37573397	37573397	+	Missense_Mutation	SNP	G	G	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr13:37573397G>A	ENST00000239891.3	-	1	107	c.41C>T	c.(40-42)gCg>gTg	p.A14V	ALG5_ENST00000496689.1_Intron|EXOSC8_ENST00000489088.1_Intron|ALG5_ENST00000413537.2_Missense_Mutation_p.A14V|ALG5_ENST00000443765.1_Missense_Mutation_p.A14V	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	14					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GGCCGCCAGCGCCGCGCCGAG	0.716000													7	7					0	0	0.000442599	0	0
POT1	25913	broad.mit.edu	37	7	124532352	124532352	+	Missense_Mutation	SNP	A	A	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:124532352A>C	ENST00000357628.3	-	6	690	c.92T>G	c.(91-93)tTc>tGc	p.F31C	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	31					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGGCTTAAAGAACTTCACAAC	0.373000													96	119					0	0	0.00361006	0	0
MYH11	4629	broad.mit.edu	37	16	15833952	15833952	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr16:15833952C>T	ENST00000452625.2	-	24	3061	c.2974G>A	c.(2974-2976)Gat>Aat	p.D992N	MYH11_ENST00000396324.3_Missense_Mutation_p.D992N|MYH11_ENST00000576790.2_Missense_Mutation_p.D985N|MYH11_ENST00000300036.5_Missense_Mutation_p.D985N	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	985					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGGATCTCATCCTCCAGTTTC	0.517000			T	CBFB	AML								19	18					0	0	0.00121646	0	0
PDP1	54704	broad.mit.edu	37	8	94935154	94935154	+	Silent	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr8:94935154T>C	ENST00000396200.3	+	3	1218	c.942T>C	c.(940-942)acT>acC	p.T314T	PDP1_ENST00000520728.1_Silent_p.T289T|PDP1_ENST00000517764.1_Silent_p.T289T|PDP1_ENST00000297598.4_Silent_p.T289T	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	289					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TGGCCAATACTGGCGATAGCA	0.502000													23	37					0	0	0.00229938	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478694	21478694	+	Splice_Site	SNP	G	G	A	rs142004523	byFrequency	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:21478694G>A	ENST00000281523.2	-	5	959	c.441C>T	c.(439-441)gaC>gaT	p.D147D	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	147	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTGCAGTACCGTCTGTATTCA	0.383000													28	43					0	0	0.00106085	0	0
TIGD4	201798	broad.mit.edu	37	4	153691615	153691615	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr4:153691615T>C	ENST00000304337.2	-	2	1362	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	181	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTCTTTTATATTAAAAACATT	0.348000													56	6					0	0	0.00361006	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861075	34861075	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr21:34861075T>C	ENST00000314399.3	-	2	1064	c.626A>G	c.(625-627)cAa>cGa	p.Q209R	DNAJC28_ENST00000381947.3_Missense_Mutation_p.Q209R|DNAJC28_ENST00000402202.1_Missense_Mutation_p.Q209R	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	209							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATGGATTCTTGAATGAGGTC	0.378000													66	98					0	0	0.00361006	0	0
MAGI1	9223	broad.mit.edu	37	3	65361527	65361527	+	Missense_Mutation	SNP	A	A	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr3:65361527A>T	ENST00000330909.8	-	19	3172	c.3173T>A	c.(3172-3174)aTc>aAc	p.I1058N	MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000483466.1_Missense_Mutation_p.I1059N|MAGI1_ENST00000402939.2_Missense_Mutation_p.I1030N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1059	Interaction with FCHSD2.|PDZ 5.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TACTGCCAAGATCCGGTCTCC	0.488000													35	53					0	0	0.00327116	0	0
C10orf111	221060	broad.mit.edu	37	10	15138489	15138489	+	Missense_Mutation	SNP	G	G	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:15138489G>T	ENST00000378207.3	-	2	608	c.335C>A	c.(334-336)tCt>tAt	p.S112Y		NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	112						integral to membrane				lung(5)|upper_aerodigestive_tract(1)	6						CATTAGGTCAGAAGCAACCTG	0.502000													26	42					5.49717e-05	0.000143229	0.00332997	1	0
SUPT6H	6830	broad.mit.edu	37	17	27024663	27024663	+	Missense_Mutation	SNP	T	T	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:27024663T>C	ENST00000314616.6	+	31	4518	c.4235T>C	c.(4234-4236)gTt>gCt	p.V1412A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V1412A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1412	SH2.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GATGAGATTGTTGCTCGCTAT	0.498000													16	17					0	0	0.00074312	0	0
PLCB1	23236	broad.mit.edu	37	20	8626777	8626777	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:8626777C>T	ENST00000378641.3	+	5	888	c.413C>T	c.(412-414)gCa>gTa	p.A138V	PLCB1_ENST00000338037.6_Missense_Mutation_p.A138V|PLCB1_ENST00000378637.2_Missense_Mutation_p.A138V	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	138					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTCAGTTTGGCAACAAACCTG	0.403000													13	27					0	0	0.00316338	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399157	22399157	+	Silent	SNP	C	C	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr11:22399157C>A	ENST00000263160.3	+	12	2057	c.1620C>A	c.(1618-1620)acC>acA	p.T540T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	540					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATTATGGTACCACCAAGTCTT	0.398000													28	21					1.2476e-16	3.49656e-16	0.00106085	1	0
C1orf168	199920	broad.mit.edu	37	1	57233501	57233501	+	Splice_Site	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:57233501C>T	ENST00000343433.6	-	5	1144		c.e5+1		C1orf168_ENST00000484327.1_Splice_Site	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGCAGACTTACGATCAGCAAT	0.363000													5	53					0	0	0.000602214	0	0
TNKS2	80351	broad.mit.edu	37	10	93608192	93608192	+	Missense_Mutation	SNP	C	C	T			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr10:93608192C>T	ENST00000371627.4	+	19	2790	c.2411C>T	c.(2410-2412)cCc>cTc	p.P804L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	804					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCTCTGCCCTCTTGTTAC	0.517000													14	50					0	0	0.00316338	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37948444	37948445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:37948444_37948445insC	ENST00000373087.6	+	6	1148_1149	c.1032_1033insC	c.(1033-1035)cccfs	p.P345fs		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	345					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCTCCTCTCACCCCCCAGAGC	0.599													19	35	---	---	---	---					
BCL9	607	broad.mit.edu	37	1	147092014	147092022	+	In_Frame_Del	DEL	CCTCTGAGT	CCTCTGAGT	-	rs151150531		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr1:147092014_147092022delCCTCTGAGT	ENST00000234739.3	+	8	2793_2801	c.2053_2061delCCTCTGAGT	c.(2053-2061)cctctgagtdel	p.PLS685del		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	685	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTTGAGGGCCCTCTGAGTCCTTCTAGGG	0.545			T	"""IGH@, IGL@"""	B-ALL								21	27	---	---	---	---					
POLH	5429	broad.mit.edu	37	6	43578415	43578439	+	Frame_Shift_Del	DEL	TTACTGTCATCAAGAACTGTAATAC	TTACTGTCATCAAGAACTGTAATAC	-			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:43578415_43578439delTTACTGTCATCAAGAACTGTAATAC	ENST00000372236.4	+	10	1494_1518	c.1199_1223delTTACTGTCATCAAGAACTGTAATAC	c.(1198-1224)tttactgtcatcaagaactgtaatactfs	p.FTVIKNCNT400fs	POLH_ENST00000372226.1_Frame_Shift_Del_p.FTVIKNCNT400fs|POLH_ENST00000535400.1_Frame_Shift_Del_p.FTVIKNCNT338fs	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	400					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CATGATGCATTTACTGTCATCAAGAACTGTAATACTTCTGGAATC	0.440								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				6	13	---	---	---	---					
ZNF451	26036	broad.mit.edu	37	6	57012839	57012839	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr6:57012839delC	ENST00000370706.4	+	10	2200	c.1956delC	c.(1954-1956)tacfs	p.Y652fs	ZNF451_ENST00000357489.3_Frame_Shift_Del_p.Y652fs|ZNF451_ENST00000491832.2_Frame_Shift_Del_p.Y652fs|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AAACATTGTACCGACATTGCC	0.373													20	99	---	---	---	---					
STYXL1	51657	broad.mit.edu	37	7	75634671	75634672	+	Frame_Shift_Ins	INS	-	-	GACCTTCCCT			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr7:75634671_75634672insGACCTTCCCT	ENST00000451157.1	-	6	673_674	c.504_505insAGGGAAGGTC	c.(502-507)gtcttcfs	p.F169fs	STYXL1_ENST00000340062.5_Frame_Shift_Ins_p.F73fs|STYXL1_ENST00000431581.1_Frame_Shift_Ins_p.F169fs|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Frame_Shift_Ins_p.F169fs|STYXL1_ENST00000359697.3_Frame_Shift_Ins_p.F169fs			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	169	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TTGCCAACGAAGACCTTCCCTG	0.480													10	53	---	---	---	---					
HNRNPK	3190	broad.mit.edu	37	9	86586850	86586851	+	Frame_Shift_Ins	INS	-	-	C			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr9:86586850_86586851insC	ENST00000376263.3	-	11	1122_1123	c.899_900insG	c.(898-900)ggtfs	p.G300fs	HNRNPK_ENST00000360384.5_Frame_Shift_Ins_p.G300fs|HNRNPK_ENST00000376281.4_Frame_Shift_Ins_p.G300fs|HNRNPK_ENST00000351839.3_Frame_Shift_Ins_p.G300fs|HNRNPK_ENST00000376264.2_Frame_Shift_Ins_p.G300fs	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	300	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTCTGCTACCACCCCGGCCGCC	0.559													24	76	---	---	---	---					
RAPGEF3	10411	broad.mit.edu	37	12	48135329	48135330	+	Frame_Shift_Ins	INS	-	-	A			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:48135329_48135330insA	ENST00000405493.2	-	19	1964_1965	c.1755_1756insT	c.(1753-1758)aatgagfs	p.E586fs	RAPGEF3_ENST00000549151.1_Frame_Shift_Ins_p.E586fs|RAPGEF3_ENST00000171000.4_Frame_Shift_Ins_p.E586fs|RAPGEF3_ENST00000449771.2_Frame_Shift_Ins_p.E628fs|RP1-197B17.3_ENST00000547799.1_lincRNA|RAPGEF3_ENST00000548919.1_Frame_Shift_Ins_p.E537fs|RAPGEF3_ENST00000389212.3_Frame_Shift_Ins_p.E628fs	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	586					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AAGAGACGCTCATTGAGCCCCA	0.604													35	84	---	---	---	---					
MON2	23041	broad.mit.edu	37	12	62928686	62928689	+	Frame_Shift_Del	DEL	CTCA	CTCA	-	rs145910619		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr12:62928686_62928689delCTCA	ENST00000393630.3	+	13	2086_2089	c.1695_1698delCTCA	c.(1693-1698)ctctcafs	p.LS565fs	MON2_ENST00000393632.2_Frame_Shift_Del_p.LS565fs|MON2_ENST00000552738.1_Frame_Shift_Del_p.LS565fs|MON2_ENST00000546600.1_Frame_Shift_Del_p.LS565fs|MON2_ENST00000552115.1_Frame_Shift_Del_p.LS565fs|MON2_ENST00000393629.2_Frame_Shift_Del_p.LS565fs|MON2_ENST00000280379.6_Frame_Shift_Del_p.LS565fs	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	565					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGCTGCACTCTCACTCCTTCTTG	0.333													61	75	---	---	---	---					
DLGAP5	9787	broad.mit.edu	37	14	55618476	55618476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:55618476delC	ENST00000247191.2	-	17	2521	c.2305delG	c.(2305-2307)gaafs	p.E769fs	DLGAP5_ENST00000395425.2_Frame_Shift_Del_p.E769fs	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	769					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GTATTTTTTTCAGGGCTACTC	0.308													26	25	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs11429169		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr14:70270922delT	ENST00000408133.1	-	0	126																											ATGGATTCTCTTTTTTTTTTT	0.353													4	9	---	---	---	---					
RPAP1	26015	broad.mit.edu	37	15	41821681	41821691	+	Frame_Shift_Del	DEL	CCATGGTGGTG	CCATGGTGGTG	-			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr15:41821681_41821691delCCATGGTGGTG	ENST00000304330.4	-	9	1251_1261	c.1135_1145delCACCACCATGG	c.(1135-1146)caccaccatggafs	p.HHHG379fs	RPAP1_ENST00000568413.1_5'UTR|RPAP1_ENST00000561603.1_Frame_Shift_Del_p.HHHG379fs	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	379						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGCCTCCTCTCCATGGTGGTGCAGACCCAGG	0.555													4	6	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579471	7579471	+	Frame_Shift_Del	DEL	G	G	-	rs56275308		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:7579471delG	ENST00000420246.2	-	4	348	c.216delC	c.(214-216)cccfs	p.P72fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P72fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P72fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P72fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	72	Interaction with HRMT1L2.|Interaction with WWOX.		P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V73fs*76(11)|p.0?(8)|p.G59fs*23(3)|p.R72fs*51(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGGGCCACGGGGGGAGCAG	0.602		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			153	32	---	---	---	---					
NPEPPS	9520	broad.mit.edu	37	17	45664632	45664634	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr17:45664632_45664634delTTC	ENST00000322157.4	+	9	1254_1256	c.1017_1019delTTC	c.(1015-1020)tgttct>tgt	p.S342del	NPEPPS_ENST00000544660.1_In_Frame_Del_p.S262del|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_In_Frame_Del_p.S338del	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	342					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AAAATTCCTGTTCTTCATCCCGC	0.365													6	8	---	---	---	---					
ITPKC	80271	broad.mit.edu	37	19	41223815	41223835	+	In_Frame_Del	DEL	AGGAAACAGCCTGGCACTGGT	AGGAAACAGCCTGGCACTGGT	-	rs138437975	byFrequency	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr19:41223815_41223835delAGGAAACAGCCTGGCACTGGT	ENST00000263370.2	+	1	808_828	c.775_795delAGGAAACAGCCTGGCACTGGT	c.(775-795)aggaaacagcctggcactggtdel	p.RKQPGTG259del		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	259						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAAGCAGCCAGGAAACAGCCTGGCACTGGTGGTTTCCAAA	0.516													12	38	---	---	---	---					
CST9L	128821	broad.mit.edu	37	20	23545653	23545666	+	Frame_Shift_Del	DEL	TGGTGAAGAAGCAG	TGGTGAAGAAGCAG	-	rs146390169	byFrequency	TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr20:23545653_23545666delTGGTGAAGAAGCAG	ENST00000376979.3	-	3	661_674	c.363_376delCTGCTTCTTCACCA	c.(361-378)acctgcttcttcaccatcfs	p.CFFTI122fs		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	122						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CTGGTGCTGATGGTGAAGAAGCAGGTGAAAGTCT	0.537													14	44	---	---	---	---					
IGLC3	3539	broad.mit.edu	37	22	23248846	23248846	+	RNA	DEL	C	C	-	rs71815924		TCGA-UY-A78N-01A-12D-A339-08	TCGA-UY-A78N-10A-01D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69ffdd-6719-4284-a3ca-2861c48042ae	de6a0a76-657b-4ad0-ac42-88c5e68b12e1	g.chr22:23248846delC	ENST00000390325.2	+	0	335																											TCAACCCTCACCCCCCACCAC	0.587													8	14	---	---	---	---