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
AKAP12	9590	broad.mit.edu	37	6	151670162	151670162	+	Silent	SNP	T	T	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:151670162T>G	ENST00000402676.2	+	4	876	c.636T>G	c.(634-636)gcT>gcG	p.A212A	AKAP12_ENST00000253332.1_Silent_p.A212A|AKAP12_ENST00000490177.1_3'UTR|AKAP12_ENST00000359755.5_Silent_p.A107A|AKAP12_ENST00000354675.6_Silent_p.A114A	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	212					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A212A(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGCAGGGGCTGGCGACCACA	0.517000													7	73					0	0	0.006214	0	0
MARCH8	220972	broad.mit.edu	37	10	45956749	45956749	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:45956749G>A	ENST00000453424.2	-	6	1460	c.1199C>T	c.(1198-1200)tCc>tTc	p.S400F	MARCH8_ENST00000395771.3_Missense_Mutation_p.S118F|MARCH8_ENST00000395769.2_Missense_Mutation_p.S118F|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.S118F			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	118						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.S118F(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCGCGTGTCGGAGCTCTTGAT	0.572000													11	63					0	0	0.001855	0	0
JAZF1	221895	broad.mit.edu	37	7	27872596	27872596	+	Splice_Site	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:27872596C>T	ENST00000283928.5	-	5	721		c.e5-1		JAZF1_ENST00000466516.1_Splice_Site|TAX1BP1_ENST00000488564.1_Intron	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding	p.?(1)	JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CATTCACATTCTGTGGAGAAG	0.433000			T	SUZ12	endometrial stromal tumours								4	26					0	0	0.000248	0	0
PKNOX1	5316	broad.mit.edu	37	21	44445025	44445025	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr21:44445025G>A	ENST00000291547.5	+	9	1105	c.894G>A	c.(892-894)caG>caA	p.Q298Q	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Silent_p.Q181Q	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	298							sequence-specific DNA binding	p.Q298Q(1)		cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TTGCTGCTCAGACAAATTTGA	0.438000													9	45					0	0	0.008291	0	0
AKAP6	9472	broad.mit.edu	37	14	33242896	33242896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:33242896G>T	ENST00000280979.4	+	12	3555	c.3385G>T	c.(3385-3387)Gaa>Taa	p.E1129*	AKAP6_ENST00000557272.1_Nonsense_Mutation_p.E1129*	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1129					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.E1129*(1)		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)		CCTCTGTCGTGAAATCAAGCA	0.458000													21	145					1.77063e-15	2.64682e-15	0.005443	1	0
DNAH3	55567	broad.mit.edu	37	16	21051256	21051256	+	Missense_Mutation	SNP	G	G	A	rs141534193	byFrequency	TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:21051256G>A	ENST00000261383.3	-	33	4647	c.4648C>T	c.(4648-4650)Cgg>Tgg	p.R1550W	DNAH3_ENST00000415178.1_Missense_Mutation_p.R1550W	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1550	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1550W(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCCACTGTCCGGAACAAGGCC	0.483000													4	104					0	0	0.000248	0	0
ZNF655	79027	broad.mit.edu	37	7	99170993	99170993	+	Missense_Mutation	SNP	C	C	T	rs141925358		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:99170993C>T	ENST00000424881.1	+	4	1587	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000252713.4_Missense_Mutation_p.S421L|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.S421L|ZNF655_ENST00000493277.1_Missense_Mutation_p.S456L	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	421					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.S456L(1)|p.S421L(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGTCAAACCTCATGCCTTATT	0.373000													10	64					0	0	0.006214	0	0
SLC7A7	9056	broad.mit.edu	37	14	23242848	23242848	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:23242848G>C	ENST00000397532.3	-	10	2032	c.1507C>G	c.(1507-1509)Ccc>Gcc	p.P503A	SLC7A7_ENST00000555702.1_Missense_Mutation_p.P503A|SLC7A7_ENST00000397529.2_Missense_Mutation_p.P503A|SLC7A7_ENST00000554517.1_Missense_Mutation_p.P237A|SLC7A7_ENST00000285850.7_Missense_Mutation_p.P503A|SLC7A7_ENST00000397528.4_Missense_Mutation_p.P503A|SLC7A7_ENST00000554061.1_5'UTR			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	503					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	p.P503A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CGTTGCTTGGGCATCTCTCCT	0.473000													7	62					0	0	0.001984	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000491507.1_5'UTR			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													5	0					0	0	0.001168	0	0
ZNF609	23060	broad.mit.edu	37	15	64792238	64792238	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:64792238G>A	ENST00000326648.3	+	1	748	c.620G>A	c.(619-621)gGa>gAa	p.G207E	ZNF609_ENST00000416172.1_Missense_Mutation_p.G207E	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	207						nucleus	zinc ion binding	p.G207E(3)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGATACAGGAGCTGTGGAG	0.572000													4	38					0	0	0.000248	0	0
DCAF5	8816	broad.mit.edu	37	14	69520961	69520961	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:69520961C>T	ENST00000341516.5	-	9	2589	c.2442G>A	c.(2440-2442)agG>agA	p.R814R	DCAF5_ENST00000557386.1_Silent_p.R813R|DCAF5_ENST00000554215.1_Silent_p.R732R|DCAF5_ENST00000556847.1_Silent_p.R732R	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	814						CUL4 RING ubiquitin ligase complex		p.R814R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						CAGACTGGGTCCTGGGACAGT	0.592000													4	36					0	0	0.000248	0	0
NUP214	8021	broad.mit.edu	37	9	134006218	134006218	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:134006218C>T	ENST00000359428.5	+	5	802	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	NUP214_ENST00000451030.1_Missense_Mutation_p.L220F|NUP214_ENST00000411637.2_Missense_Mutation_p.L220F			P35658	NU214_HUMAN	nucleoporin 214kDa	220					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.L220F(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGTCCAGTATCTTCCTGTAAG	0.403000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								7	55					0	0	0.001984	0	0
CDH19	28513	broad.mit.edu	37	18	64172164	64172164	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr18:64172164G>A	ENST00000262150.2	-	12	2496	c.2204C>T	c.(2203-2205)tCc>tTc	p.S735F		NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	735					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S735F(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGATTCTAAGGAGCTCAGGGA	0.463000													10	63					0	0	0.006214	0	0
MRPS14	63931	broad.mit.edu	37	1	174983875	174983875	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:174983875A>G	ENST00000476371.1	-	3	333	c.317T>C	c.(316-318)cTt>cCt	p.L106P	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	106					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.L106P(1)		large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						TATACGACTAAGCCTCCAGCG	0.537000													6	107					0	0	0.001168	0	0
IGHE	3497	broad.mit.edu	37	14	106066439	106066439	+	RNA	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:106066439G>A	ENST00000577108.1	-	0	107				IGHE_ENST00000576077.1_RNA																							CTCGCTGGACGGTCTGTGAGG	0.607000													4	81					0	0	0.000248	0	0
DDC	1644	broad.mit.edu	37	7	50531022	50531022	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:50531022G>A	ENST00000444124.2	-	14	1550	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DDC_ENST00000426377.1_Silent_p.I372I|DDC_ENST00000431062.1_Silent_p.I357I|DDC_ENST00000357936.5_Silent_p.I450I	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	450					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.I450I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGCGAGAACAGATGGCAAAGC	0.522000													6	46					0	0	0.001168	0	0
ECI1	1632	broad.mit.edu	37	16	2296868	2296868	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:2296868G>A	ENST00000301729.4	-	3	333	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	ECI1_ENST00000570258.1_Silent_p.L37L|ECI1_ENST00000562238.1_Silent_p.L96L	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	96					fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	p.L96L(1)		endometrium(1)|large_intestine(2)|lung(6)	9						ACCGAGGTCAGAATGACACCG	0.572000													12	64					0	0	0.001368	0	0
OR2W5	441932	broad.mit.edu	37	1	247655099	247655099	+	RNA	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:247655099C>T	ENST00000522351.1	+	0	730							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R224C(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGATTGCAGCCGCGGTGCTGA	0.567000													21	85					0	0	0.008871	0	0
GPR98	84059	broad.mit.edu	37	5	90020705	90020705	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:90020705G>C	ENST00000405460.2	+	46	9901	c.9805G>C	c.(9805-9807)Ggc>Cgc	p.G3269R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3269					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G3269R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCAGCTTCTGGCTGGTGTTT	0.333000													15	173					0	0	0.006122	0	0
SUPT6H	6830	broad.mit.edu	37	17	27016441	27016441	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:27016441G>A	ENST00000314616.6	+	25	3487	c.3204G>A	c.(3202-3204)aaG>aaA	p.K1068K	SUPT6H_ENST00000347486.4_Silent_p.K1068K	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1068					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	p.K1068K(1)		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)					GGGCTAGGAAGATGGCAGTGG	0.498000													7	75					0	0	0.001984	0	0
TBC1D31	93594	broad.mit.edu	37	8	124109655	124109655	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr8:124109655G>C	ENST00000287380.1	+	6	895	c.805G>C	c.(805-807)Gat>Cat	p.D269H	TBC1D31_ENST00000327098.5_Missense_Mutation_p.D269H|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D164H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D164H|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D269H|TBC1D31_ENST00000378080.2_Missense_Mutation_p.D164H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31									p.D269H(1)									ATTTCTTCCTGATAGTTTTGA	0.398000													8	63					0	0	0.004482	0	0
SYNE2	23224	broad.mit.edu	37	14	64630120	64630120	+	Splice_Site	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:64630120G>C	ENST00000357395.3	+	90	16599	c.5454_splice	c.e90-1	p.E1819_splice	SYNE2_ENST00000344113.4_Splice_Site_p.E5434_splice|SYNE2_ENST00000555002.1_Splice_Site_p.E2068_splice|SYNE2_ENST00000554584.1_Splice_Site_p.E5351_splice|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Splice_Site_p.E1819_splice|SYNE2_ENST00000358025.3_Splice_Site_p.E5434_splice			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5434					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E5434Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTTCTGCAGGAGCTGCAGCA	0.493000													8	47					0	0	0.004482	0	0
PCGF2	7703	broad.mit.edu	37	17	36895840	36895840	+	Splice_Site	SNP	T	T	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:36895840T>A	ENST00000580830.1	-	5	909	c.209_splice	c.e5+1	p.R70_splice	PCGF2_ENST00000581345.1_Splice_Site_p.R70_splice|PCGF2_ENST00000579882.1_Splice_Site_p.R70_splice|PCGF2_ENST00000578109.1_Splice_Site_p.R16_splice|PCGF2_ENST00000360797.2_Splice_Site_p.R70_splice|PCGF2_ENST00000585100.1_Splice_Site_p.R70_splice			P35227	PCGF2_HUMAN	polycomb group ring finger 2	70					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R70W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAAGCCCACCTGATGCTCAGC	0.622000													8	82					0	0	0.004482	0	0
FANCI	55215	broad.mit.edu	37	15	89836071	89836071	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:89836071G>C	ENST00000310775.7	+	21	2231	c.2145G>C	c.(2143-2145)aaG>aaC	p.K715N	FANCI_ENST00000300027.8_Missense_Mutation_p.K715N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	715					cell cycle|DNA repair	nucleoplasm	protein binding	p.K715N(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATGATTAAGAGTGAGCTGG	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				10	111					0	0	0.008291	0	0
DCAF6	55827	broad.mit.edu	37	1	167944145	167944145	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:167944145G>C	ENST00000367840.3	+	4	424	c.330G>C	c.(328-330)caG>caC	p.Q110H	DCAF6_ENST00000432587.2_Missense_Mutation_p.Q79H|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q110H|DCAF6_ENST00000312263.6_Missense_Mutation_p.Q110H|DCAF6_ENST00000470919.1_3'UTR	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	110					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.Q110H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						ATGATAAACAGATTGTATCCT	0.373000													15	82					0	0	0.004007	0	0
MGRN1	23295	broad.mit.edu	37	16	4715113	4715113	+	Silent	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:4715113G>T	ENST00000399577.5	+	7	732	c.639G>T	c.(637-639)gtG>gtT	p.V213V	MGRN1_ENST00000586183.1_Silent_p.V213V|MGRN1_ENST00000588994.1_Silent_p.V213V|MGRN1_ENST00000415496.1_Silent_p.V214V|MGRN1_ENST00000262370.7_Silent_p.V213V	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	213					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V213V(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGGTGGAAGTGACTGGCCACG	0.652000													5	50					5.18039e-06	7.62596e-06	0.003080	1	0
LATS2	26524	broad.mit.edu	37	13	21549028	21549028	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr13:21549028C>T	ENST00000382592.4	-	8	3653	c.3248G>A	c.(3247-3249)tGc>tAc	p.C1083Y	LATS2_ENST00000542899.1_Missense_Mutation_p.C1083Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1083					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.C1083Y(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CACAGGCTGGCAGCCTTCAGT	0.602000													11	41					0	0	0.000978	0	0
TMTC3	160418	broad.mit.edu	37	12	88568455	88568455	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:88568455G>A	ENST00000266712.6	+	9	1491	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	424						integral to membrane	binding	p.R424K(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ACATTCCACAGAAATTGGGAT	0.343000													13	117					0	0	0.001855	0	0
ALOX15B	247	broad.mit.edu	37	17	7942594	7942594	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:7942594C>T	ENST00000380183.4	+	1	260	c.121C>T	c.(121-123)Ctc>Ttc	p.L41F	ALOX15B_ENST00000573359.1_Missense_Mutation_p.L41F|ALOX15B_ENST00000380173.2_Missense_Mutation_p.L41F|ALOX15B_ENST00000572022.1_Missense_Mutation_p.L41F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	41	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.L41F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CCTGGACAATCTCGGCAAGGA	0.652000													13	56					0	0	0.004990	0	0
UBR4	23352	broad.mit.edu	37	1	19499493	19499493	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:19499493G>C	ENST00000375267.2	-	25	3389	c.3386C>G	c.(3385-3387)tCa>tGa	p.S1129*	UBR4_ENST00000375217.2_Nonsense_Mutation_p.S1129*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.S1129*|UBR4_ENST00000375254.3_Nonsense_Mutation_p.S1129*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1129					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.S1129*(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGGACCTTTGAGATCGCGGC	0.468000													6	80					0	0	0.001984	0	0
SLC5A11	115584	broad.mit.edu	37	16	24902236	24902236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:24902236C>G	ENST00000347898.3	+	9	1333	c.711C>G	c.(709-711)ttC>ttG	p.F237L	SLC5A11_ENST00000539472.1_Missense_Mutation_p.F173L|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000545376.1_Missense_Mutation_p.F167L|SLC5A11_ENST00000568579.1_Missense_Mutation_p.F167L|SLC5A11_ENST00000424767.2_Missense_Mutation_p.F202L|SLC5A11_ENST00000567758.1_Missense_Mutation_p.F202L|SLC5A11_ENST00000565769.1_Missense_Mutation_p.F173L	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	237					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.F237L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGAAGTACTTCTTGGCCCTGG	0.542000													27	170					0	0	0.004656	0	0
ABLIM3	22885	broad.mit.edu	37	5	148624548	148624548	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:148624548G>A	ENST00000506113.1	+	15	1938	c.1456G>A	c.(1456-1458)Gag>Aag	p.E486K	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.E375K|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000517451.1_5'UTR|ABLIM3_ENST00000356541.3_Missense_Mutation_p.E375K|ABLIM3_ENST00000309868.7_Missense_Mutation_p.E486K|ABLIM3_ENST00000508983.1_Missense_Mutation_p.E453K|ABLIM3_ENST00000326685.7_Missense_Mutation_p.E391K			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	486					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	p.E486K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGGAGTCTGAGTACTGGAC	0.542000													5	70					0	0	0.000602	0	0
CEP350	9857	broad.mit.edu	37	1	180062921	180062921	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:180062921C>G	ENST00000367607.3	+	34	8099	c.7681C>G	c.(7681-7683)Caa>Gaa	p.Q2561E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2561						centrosome|nucleus|spindle		p.Q2561E(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCTCCTCCTCAAAAAATATC	0.343000													16	90					0	0	0.004007	0	0
CLIC1	1192	broad.mit.edu	37	6	31701437	31701437	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:31701437C>T	ENST00000375780.2	-	5	860	c.288G>A	c.(286-288)ctG>ctA	p.L96L	CLIC1_ENST00000375779.2_Silent_p.L96L|CLIC1_ENST00000375784.3_Silent_p.L96L|CLIC1_ENST00000395892.1_Silent_p.L96L			O00299	CLIC1_HUMAN	chloride intracellular channel 1	96	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	p.L96L(1)		central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						TCAGAGCTGCCAGCTTGGGGT	0.512000													8	55					0	0	0.006214	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	74					0	0	0.000978	0	0
FAM155B	27112	broad.mit.edu	37	X	68749637	68749637	+	Silent	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chrX:68749637G>T	ENST00000252338.4	+	3	1299	c.1257G>T	c.(1255-1257)ccG>ccT	p.P419P		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	420						integral to membrane		p.P419P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						CCCTGCTGCCGGTCTCTGGGG	0.612000													5	50					0.000602214	0.000860306	0.000602	1	0
BHMT	635	broad.mit.edu	37	5	78417047	78417047	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:78417047G>C	ENST00000274353.5	+	5	591	c.484G>C	c.(484-486)Gaa>Caa	p.E162Q	DMGDH_ENST00000520388.1_5'UTR|BHMT_ENST00000524080.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	162	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.E162Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CCAGTATTTTGAACACGTTGA	0.413000													5	66					0	0	0.001984	0	0
GRP	2922	broad.mit.edu	37	18	56897691	56897691	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr18:56897691C>G	ENST00000256857.2	+	3	536	c.438C>G	c.(436-438)aaC>aaG	p.N146K	GRP_ENST00000529320.2_3'UTR|GRP_ENST00000420468.2_Missense_Mutation_p.N139K	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	146					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity	p.N146K(1)		large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				CCCAGCTGAACCAGCAATGAT	0.438000													11	102					0	0	0.000978	0	0
G3BP1	10146	broad.mit.edu	37	5	151183593	151183593	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:151183593G>A	ENST00000394123.3	+	12	1487	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	G3BP1_ENST00000543466.1_Missense_Mutation_p.G266R|G3BP1_ENST00000356245.3_Missense_Mutation_p.G448R			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	448	Gly-rich.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.G448R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCCTCCCCGTGGAGGCATGGT	0.612000													11	107					0	0	0.008291	0	0
TIMELESS	8914	broad.mit.edu	37	12	56826270	56826270	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:56826270G>A	ENST00000229201.4	-	7	721	c.567C>T	c.(565-567)ctC>ctT	p.L189L	TIMELESS_ENST00000553532.1_Silent_p.L190L|TIMELESS_ENST00000554616.1_Silent_p.L190L	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	190					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.L190L(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GAATCGCCCAGAGGAGCTGGT	0.557000													11	88					0	0	0.001855	0	0
LGALS2	3957	broad.mit.edu	37	22	37966318	37966318	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr22:37966318C>T	ENST00000215886.4	-	4	525	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	117	Galectin.							p.L117L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					CCCTTACGCTCAGGTAGCTCA	0.502000													16	118					0	0	0.006122	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986936	118986936	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:118986936G>A	ENST00000336702.3	+	14	2453	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	697						integral to membrane		p.K698K(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCAAACCCAAGGCCAATGGTA	0.587000													4	54					0	0	0.000602	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070626	32070626	+	RNA	SNP	C	C	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:32070626C>A	ENST00000566806.1	-	0	499																											CTTCTGGATACACCTTCACCT	0.527000													5	60					8.12818e-05	0.000117859	0.001984	1	0
MYD88	4615	broad.mit.edu	37	3	38180462	38180462	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:38180462G>C	ENST00000417037.2	+	1	494	c.310G>C	c.(310-312)Gag>Cag	p.E104Q	MYD88_ENST00000443433.2_Missense_Mutation_p.E104Q|MYD88_ENST00000396334.3_Missense_Mutation_p.E104Q|MYD88_ENST00000495303.1_Missense_Mutation_p.E104Q|MYD88_ENST00000424893.1_Missense_Mutation_p.E104Q	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	91	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity	p.E104Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCGACTGCTCGAGCTGCTTAC	0.667000			Mis		ABC-DLBCL								4	47					0	0	0.000248	0	0
PLCL1	5334	broad.mit.edu	37	2	198948761	198948761	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:198948761A>C	ENST00000428675.1	+	2	918	c.520A>C	c.(520-522)Aca>Cca	p.T174P	PLCL1_ENST00000437704.2_Missense_Mutation_p.T76P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	174	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T76P(1)|p.T174P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAACACGGAAACATTTAGAAA	0.458000													4	153					0	0	0.000248	0	0
IRF2	3660	broad.mit.edu	37	4	185320141	185320141	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:185320141C>T	ENST00000393593.3	-	7	829	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	208					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TCGTCGCTCTCAGTGGTCACC	0.552000													6	68					0	0	0.003080	0	0
CBWD1	55871	broad.mit.edu	37	9	121547	121547	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:121547T>G	ENST00000356521.4	-	15	1196	c.1108A>C	c.(1108-1110)Aaa>Caa	p.K370Q	CBWD1_ENST00000314367.10_Missense_Mutation_p.K334Q|CBWD1_ENST00000377400.4_Missense_Mutation_p.K322Q|CBWD1_ENST00000382447.4_Missense_Mutation_p.K351Q	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	370	CobW C-terminal.						ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AACAGCTGTTTAAGGATATCC	0.343000													4	366					0	0	0.000602	0	0
HIP1	3092	broad.mit.edu	37	7	75178196	75178196	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:75178196C>T	ENST00000336926.6	-	23	2425	c.2399G>A	c.(2398-2400)aGa>aAa	p.R800K	HIP1_ENST00000434438.2_Missense_Mutation_p.R800K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	800	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	p.R802K(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TACCTCTATTCTGGCCGTGGC	0.547000			T	PDGFRB	CMML								20	198					0	0	0.001882	0	0
HIPK3	10114	broad.mit.edu	37	11	33374837	33374837	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:33374837C>T	ENST00000303296.4	+	17	3676	c.3371C>T	c.(3370-3372)tCa>tTa	p.S1124L	HIPK3_ENST00000456517.1_Missense_Mutation_p.S1103L|HIPK3_ENST00000379016.3_Missense_Mutation_p.S1103L|HIPK3_ENST00000525975.1_Missense_Mutation_p.S1103L	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1124					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	p.S1124L(1)		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						TACCCATCATCAGCCACCCTC	0.517000													11	143					0	0	0.000978	0	0
OR11L1	391189	broad.mit.edu	37	1	248004717	248004717	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:248004717A>G	ENST00000355784.2	-	1	537	c.482T>C	c.(481-483)cTg>cCg	p.L161P		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAAATCATCAGGGAAGGCAG	0.557000													4	132					0	0	0.000248	0	0
UBA6	55236	broad.mit.edu	37	4	68499189	68499189	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:68499189C>G	ENST00000322244.4	-	23	2075	c.2016G>C	c.(2014-2016)aaG>aaC	p.K672N		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	672					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.K672N(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CACTCTGTATCTTCTAGAATG	0.348000													10	80					0	0	0.006214	0	0
TMEM8B	51754	broad.mit.edu	37	9	35847107	35847107	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:35847107C>G	ENST00000377996.1	+	9	2349	c.934C>G	c.(934-936)Ctt>Gtt	p.L312V	TMEM8B_ENST00000377991.4_Intron|TMEM8B_ENST00000377988.2_Intron|TMEM8B_ENST00000439587.2_Missense_Mutation_p.L312V			A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	0					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	p.L312V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TTCACTGTGTCTTCTACAGAC	0.453000													17	65					0	0	0.004990	0	0
SOGA2	23255	broad.mit.edu	37	18	8806923	8806923	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr18:8806923C>G	ENST00000359865.3	+	11	2611	c.2469C>G	c.(2467-2469)ttC>ttG	p.F823L	SOGA2_ENST00000306329.11_Missense_Mutation_p.F1142L|SOGA2_ENST00000306285.7_Missense_Mutation_p.F138L|SOGA2_ENST00000400050.3_Missense_Mutation_p.F782L|SOGA2_ENST00000517570.1_Missense_Mutation_p.F782L|SOGA2_ENST00000518815.1_Missense_Mutation_p.F138L	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1133								p.F823L(1)									TCAGCGCCTTCAAGGCCTTGC	0.597000													5	26					0	0	0.000602	0	0
ITGAX	3687	broad.mit.edu	37	16	31374654	31374654	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:31374654C>T	ENST00000268296.4	+	14	1790	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	ITGAX_ENST00000562522.1_Missense_Mutation_p.H557Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	557					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.H557Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTACCTGTTTCACGGAGTCTT	0.612000													12	158					0	0	0.001855	0	0
UTP20	27340	broad.mit.edu	37	12	101761655	101761655	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:101761655G>A	ENST00000261637.4	+	48	6459	c.6285G>A	c.(6283-6285)ctG>ctA	p.L2095L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2095					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.L2095L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCTGAGTCTGAAGACTTCCA	0.438000													12	161					0	0	0.003163	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123687489	123687489	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:123687489G>A	ENST00000606320.1	-	10	1669	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S336F|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S336F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S458F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	336					M phase of mitotic cell cycle	centriole|Golgi membrane		p.S336F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTCTATGTCAGAGGGACTAGA	0.458000													13	123					0	0	0.001855	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609962	115609962	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:115609962G>C	ENST00000361384.2	-	2	1819	c.902C>G	c.(901-903)tCt>tGt	p.S301C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S301C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	301					cell division|mitosis	nucleus	hydrolase activity	p.S301C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTGAAGTGGAGAATAGGAGAT	0.403000								Other identified genes with known or suspected DNA repair function					16	115					0	0	0.003163	0	0
METTL14	57721	broad.mit.edu	37	4	119631267	119631267	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:119631267G>C	ENST00000388822.4	+	11	1348	c.1181G>C	c.(1180-1182)aGa>aCa	p.R394T	METTL14_ENST00000506780.1_Missense_Mutation_p.R356T			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	394						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	p.R394T(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GAAATTGAGAGACTTCGACCA	0.478000													8	70					0	0	0.003080	0	0
MUC15	143662	broad.mit.edu	37	11	26584813	26584813	+	Splice_Site	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:26584813C>G	ENST00000436318.2	-	3	909		c.e3-1		MUC15_ENST00000527569.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Splice_Site|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000529533.1_Splice_Site			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated							extracellular region|integral to membrane|plasma membrane		p.?(1)		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						TTTCTATTTTCTACAGGACaa	0.318000													9	58					0	0	0.004482	0	0
NAA35	60560	broad.mit.edu	37	9	88557126	88557126	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:88557126A>G	ENST00000361671.5	+	2	185	c.52A>G	c.(52-54)Atg>Gtg	p.M18V	NAA35_ENST00000376040.1_Missense_Mutation_p.M18V	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	18					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.M18V(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GGAGCTCAGTATGCCAGAAAA	0.388000													4	86					0	0	0.000248	0	0
MROH2B	133558	broad.mit.edu	37	5	41019038	41019038	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:41019038G>C	ENST00000399564.4	-	25	2974	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	MROH2B_ENST00000506092.2_Missense_Mutation_p.L397V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.L842V(1)									AGATTTTCCAGAGGTGGAAGG	0.483000													5	42					0	0	0.000602	0	0
AFF2	2334	broad.mit.edu	37	X	147743947	147743947	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chrX:147743947C>T	ENST00000370460.2	+	3	1178	c.699C>T	c.(697-699)atC>atT	p.I233I	AFF2_ENST00000342251.3_Silent_p.I229I|AFF2_ENST00000370457.5_Silent_p.I229I|AFF2_ENST00000370458.1_Silent_p.I229I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	233					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.I233I(2)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAGAAATCTTTCAATCCA	0.473000													33	234					0	0	0.004289	0	0
ACD	65057	broad.mit.edu	37	16	67691946	67691946	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:67691946C>T	ENST00000219251.8	-	10	1729	c.1398G>A	c.(1396-1398)cgG>cgA	p.R466R	ACD_ENST00000393919.4_Silent_p.R469R	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	469					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding	p.R466R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAAAAGGCGGCCGATTCTTGC	0.612000													6	59					0	0	0.001168	0	0
TMEM190	147744	broad.mit.edu	37	19	55889060	55889060	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:55889060G>C	ENST00000291934.3	+	3	212	c.194G>C	c.(193-195)gGg>gCg	p.G65A	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	65	P-type.					integral to membrane		p.G65A(1)		large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TACCGCAATGGGGTCTGCTAC	0.692000													8	56					0	0	0.003080	0	0
ITCH	83737	broad.mit.edu	37	20	33068500	33068500	+	Missense_Mutation	SNP	A	A	G	rs139633287		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:33068500A>G	ENST00000374864.4	+	19	2128	c.1915A>G	c.(1915-1917)Att>Gtt	p.I639V	ITCH_ENST00000535650.1_Missense_Mutation_p.I529V|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.I680V	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	680	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	p.I639V(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTAGAATCTATTGATCCAGA	0.323000													16	116					0	0	0.004990	0	0
MAT2B	27430	broad.mit.edu	37	5	162943529	162943529	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:162943529G>C	ENST00000518095.1	+	5	605	c.532G>C	c.(532-534)Gct>Cct	p.A178P	MAT2B_ENST00000518731.1_Intron|MAT2B_ENST00000280969.5_Missense_Mutation_p.A167P|MAT2B_ENST00000321757.6_Missense_Mutation_p.A178P			Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta	178					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.A167P(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCTAGGAGCTGCTGTTTTGAG	0.348000													15	54					0	0	0.003163	0	0
NALCN	259232	broad.mit.edu	37	13	101997671	101997671	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr13:101997671C>G	ENST00000251127.6	-	7	826	c.745G>C	c.(745-747)Gaa>Caa	p.E249Q	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.E249Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	249						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.E249Q(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAGATCTTCAAGGTCCATG	0.433000													14	133					0	0	0.002450	0	0
TM2D1	83941	broad.mit.edu	37	1	62175070	62175070	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:62175070G>C	ENST00000371177.2	-	3	290	c.278C>G	c.(277-279)tCc>tGc	p.S93C	TM2D1_ENST00000371180.2_Missense_Mutation_p.S155C|TM2D1_ENST00000294613.5_Missense_Mutation_p.S93C|TM2D1_ENST00000606498.1_Missense_Mutation_p.S93C|TM2D1_ENST00000472989.1_5'UTR			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	93					apoptosis			p.S155C(1)|p.S93C(1)		large_intestine(2)|lung(3)|ovary(1)	6						ATTGCCACTGGAATCCTTACA	0.348000													7	84					0	0	0.003080	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54603853	54603853	+	Silent	SNP	A	A	G	rs145515923		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:54603853A>G	ENST00000230640.5	+	1	266	c.12A>G	c.(10-12)gcA>gcG	p.A4A	SKIV2L2_ENST00000545714.1_5'UTR|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	4					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.A4A(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGGCGGACGCATTCGGAGATG	0.577000													7	75					0	0	0.004482	0	0
MTUS2	23281	broad.mit.edu	37	13	30075296	30075296	+	Silent	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr13:30075296C>G	ENST00000431530.3	+	13	3949	c.3891C>G	c.(3889-3891)ctC>ctG	p.L1297L	MTUS2_ENST00000380808.2_Silent_p.L266L|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000542829.1_Silent_p.L176L	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1287						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.L1297L(1)|p.L266L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACGAAGACCTCAAAGCAAGGA	0.443000													12	69					0	0	0.001855	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070637	32070637	+	RNA	SNP	A	A	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:32070637A>C	ENST00000566806.1	-	0	499																											ACCTTCACCTACTGCTACTTG	0.512000													4	69					0	0	0.001168	0	0
EPHA10	284656	broad.mit.edu	37	1	38227381	38227381	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:38227381C>T	ENST00000373048.4	-	3	545	c.546G>A	c.(544-546)ccG>ccA	p.P182P	EPHA10_ENST00000427468.2_Silent_p.P182P|EPHA10_ENST00000319637.6_Silent_p.P182P	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	182						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCGGCTGAGCGGTCCGATCT	0.657000													5	32					0	0	0.001168	0	0
PCGF2	7703	broad.mit.edu	37	17	36895846	36895846	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:36895846T>C	ENST00000580830.1	-	5	903	c.202A>G	c.(202-204)Agc>Ggc	p.S68G	PCGF2_ENST00000581345.1_Missense_Mutation_p.S68G|PCGF2_ENST00000579882.1_Missense_Mutation_p.S68G|PCGF2_ENST00000578109.1_Missense_Mutation_p.S14G|PCGF2_ENST00000360797.2_Missense_Mutation_p.S68G|PCGF2_ENST00000585100.1_Missense_Mutation_p.S68G			P35227	PCGF2_HUMAN	polycomb group ring finger 2	68					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S68G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CACCTGATGCTCAGCAGCGGC	0.627000													7	91					0	0	0.003080	0	0
HOXC6	3223	broad.mit.edu	37	12	54422532	54422532	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:54422532C>G	ENST00000243108.4	+	1	391	c.227C>G	c.(226-228)tCc>tGc	p.S76C	HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000394331.3_5'UTR	NM_004503.3	NP_004494.1	P09630	HXC6_HUMAN	homeobox C6	76					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S76Y(1)|p.S76C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGATCTAATTCCTTTTACCAG	0.493000													15	86					0	0	0.003163	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655752	40655752	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:40655752C>G	ENST00000406785.1	-	2	1858	c.1669G>C	c.(1669-1671)Gag>Cag	p.E557Q	SLC8A1_ENST00000402441.1_Missense_Mutation_p.E557Q|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E557Q|SLC8A1_ENST00000405269.1_Missense_Mutation_p.E557Q|SLC8A1_ENST00000406391.2_Missense_Mutation_p.E557Q|SLC8A1_ENST00000408028.2_Missense_Mutation_p.E557Q|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E557Q|SLC8A1_ENST00000542024.1_Missense_Mutation_p.E557Q|SLC8A1_ENST00000542756.1_Missense_Mutation_p.E557Q|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E557Q			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	557	Calx-beta 2.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.E557Q(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTTTCACCTCCATGATGCCA	0.458000													14	166					0	0	0.004007	0	0
BLM	641	broad.mit.edu	37	15	91310173	91310173	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:91310173G>A	ENST00000355112.3	+	10	2345	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	BLM_ENST00000560509.1_Missense_Mutation_p.D743N|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	743	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	p.D743N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGATAAGACTGACTCAGAAGC	0.289000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				9	74					0	0	0.008291	0	0
RGPD4	285190	broad.mit.edu	37	2	108487524	108487524	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:108487524G>C	ENST00000408999.3	+	20	3141	c.3064G>C	c.(3064-3066)Gag>Cag	p.E1022Q	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1022Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1022					intracellular transport		binding	p.E1022Q(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CGGTGACTTTGAGAAAGATGA	0.388000													46	390					0	0	0.003610	0	0
ADCY5	111	broad.mit.edu	37	3	123005609	123005609	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:123005609G>A	ENST00000462833.1	-	20	4792	c.3580C>T	c.(3580-3582)Cct>Tct	p.P1194S	ADCY5_ENST00000309879.5_Missense_Mutation_p.P844S|ADCY5_ENST00000491190.1_Missense_Mutation_p.P852S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1194	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.P1194S(1)|p.P1194T(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCGTACTGAGGCTTTCGTGCC	0.622000											OREG0015741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	41					0	0	0.001984	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1																						CAGATGCGTCTGAAGAAACAT	0.488000													5	61					0	0	0.001168	0	0
MCM2	4171	broad.mit.edu	37	3	127339966	127339966	+	Silent	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:127339966C>G	ENST00000265056.7	+	15	2743	c.2499C>G	c.(2497-2499)ctC>ctG	p.L833L	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	833					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	p.L833L(1)		ovary(3)|skin(2)|stomach(1)	6						AGCTGTTGCTCTTCATACTGA	0.542000													13	145					0	0	0.001368	0	0
GRIN3A	116443	broad.mit.edu	37	9	104390585	104390585	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:104390585C>G	ENST00000361820.3	-	4	3051	c.2451G>C	c.(2449-2451)atG>atC	p.M817I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	817					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.M817I(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGTACCTTCTCATATATTCAT	0.428000													5	57					0	0	0.001984	0	0
NRSN1	140767	broad.mit.edu	37	6	24134591	24134591	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:24134591G>A	ENST00000378491.4	+	3	337	c.36G>A	c.(34-36)caG>caA	p.Q12Q	NRSN1_ENST00000378478.1_Silent_p.Q12Q|NRSN1_ENST00000378475.1_Silent_p.Q12Q	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	12					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle		p.Q12H(1)|p.Q12Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGTCCAGGCAGGCACAGGCTG	0.532000													7	40					0	0	0.003080	0	0
FAT1	2195	broad.mit.edu	37	4	187519168	187519168	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:187519168C>T	ENST00000441802.2	-	23	12424	c.12215G>A	c.(12214-12216)gGa>gAa	p.G4072E	FAT1_ENST00000512347.1_5'UTR	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4072	EGF-like 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.G4072V(1)|p.G4075V(1)|p.G4075E(1)|p.G4072E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AACAAAGCCTCCGTTGTCGAC	0.413000										HNSCC(5;0.00058)			4	73					0	0	0.001168	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099525	142099525	+	RNA	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:142099525C>T	ENST00000390359.3	-	0	315																											AGAGTGGAGACGGATCCCTCA	0.552000													6	41					0	0	0.001168	0	0
DUSP27	92235	broad.mit.edu	37	1	167097145	167097145	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:167097145G>A	ENST00000361200.2	+	6	2943	c.2777G>A	c.(2776-2778)aGa>aAa	p.R926K	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R926K|DUSP27_ENST00000271385.5_Missense_Mutation_p.R926K			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	926	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R926K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGTGGCAGCAGAGTTGGCAAA	0.488000													4	50					0	0	0.000248	0	0
PNPLA8	50640	broad.mit.edu	37	7	108119701	108119701	+	Silent	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:108119701C>G	ENST00000426128.2	-	9	1940	c.1815G>C	c.(1813-1815)gtG>gtC	p.V605V	PNPLA8_ENST00000257694.8_Silent_p.V667V|PNPLA8_ENST00000436062.1_Silent_p.V667V|PNPLA8_ENST00000422087.1_Silent_p.V667V|PNPLA8_ENST00000388728.5_Silent_p.V605V|PNPLA8_ENST00000453144.1_Silent_p.V567V	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	667	Patatin.				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	p.V667V(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCGTGTTTCTCACATCACTCT	0.408000													11	124					0	0	0.001368	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													4	154					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9074892	9074892	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:9074892G>A	ENST00000397910.4	-	3	12757	c.12554C>T	c.(12553-12555)tCt>tTt	p.S4185F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4187	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S4185F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGGAGTAGAGGAGGGACT	0.502000													9	85					0	0	0.006214	0	0
ACSL5	51703	broad.mit.edu	37	10	114136114	114136114	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:114136114G>T	ENST00000356116.1	+	1	159	c.47G>T	c.(46-48)gGg>gTg	p.G16V	ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G16V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACGAGCGAGGGAAGAAGGAC	0.627000													13	89					0.00010058	0.000144397	0.001368	1	0
EIF3B	8662	broad.mit.edu	37	7	2409165	2409165	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:2409165G>C	ENST00000360876.4	+	10	1518	c.1462G>C	c.(1462-1464)Gat>Cat	p.D488H	EIF3B_ENST00000397011.2_Missense_Mutation_p.D488H	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	488					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.D488H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TGAAGACAAAGATATTCCAGC	0.478000													16	226					0	0	0.004007	0	0
LONP1	9361	broad.mit.edu	37	19	5696170	5696170	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:5696170G>C	ENST00000360614.3	-	13	2065	c.1908C>G	c.(1906-1908)atC>atG	p.I636M	LONP1_ENST00000590729.1_Missense_Mutation_p.I506M|LONP1_ENST00000593119.1_Missense_Mutation_p.I572M|LONP1_ENST00000585374.1_Missense_Mutation_p.I522M|LONP1_ENST00000540670.2_Missense_Mutation_p.I440M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	636					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	p.I636M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCCGTGCAGATGAACAGCA	0.662000													5	96					0	0	0.001168	0	0
ZNF391	346157	broad.mit.edu	37	6	27368615	27368615	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:27368615C>G	ENST00000244576.4	+	3	1011	c.466C>G	c.(466-468)Caa>Gaa	p.Q156E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q156E(2)		endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						TATTGAACATCAAAGAACTCA	0.403000													10	99					0	0	0.001855	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089889	73089889	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:73089889C>G	ENST00000450736.2	+	2	573	c.158C>G	c.(157-159)tCt>tGt	p.S53C	SLC16A5_ENST00000580123.1_Missense_Mutation_p.S53C|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S53C|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S93C			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	53					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.S53C(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	AGCGAGACCTCTTGGTTCCCC	0.607000													7	137					0	0	0.001855	0	0
CCDC129	223075	broad.mit.edu	37	7	31683040	31683040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:31683040C>T	ENST00000319386.3	+	11	2605	c.1612C>T	c.(1612-1614)Cag>Tag	p.Q538*	CCDC129_ENST00000407970.3_Nonsense_Mutation_p.Q686*|CCDC129_ENST00000409210.1_Nonsense_Mutation_p.Q594*|CCDC129_ENST00000451887.2_Nonsense_Mutation_p.Q712*			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	686								p.Q538*(1)|p.Q686*(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TACTTTGGGTCAGATACTACC	0.512000													12	47					0	0	0.000978	0	0
TM9SF2	9375	broad.mit.edu	37	13	100153956	100153956	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr13:100153956G>A	ENST00000376387.4	+	1	286	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	32					transport	endosome membrane|integral to plasma membrane		p.R32R(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					GCCCGCGCCGGAGCGGCGCTT	0.667000													7	61					0	0	0.001984	0	0
SZT2	23334	broad.mit.edu	37	1	43893380	43893380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:43893380C>T	ENST00000562955.1	+	25	3607	c.3607C>T	c.(3607-3609)Cag>Tag	p.Q1203*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.Q361*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1260						peroxisome		p.Q361*(2)|p.Q1203*(1)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCAGCCCCCTCAGGCGCCCCG	0.582000													9	26					0	0	0.006214	0	0
NKTR	4820	broad.mit.edu	37	3	42679413	42679413	+	Silent	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:42679413T>C	ENST00000232978.8	+	13	2405	c.2217T>C	c.(2215-2217)agT>agC	p.S739S	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	739	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.S739S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CACAGTGTAGTAGATCATCTT	0.378000													3	59					0	0	0.004672	0	0
PRDX2	7001	broad.mit.edu	37	19	12911999	12911999	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:12911999T>A	ENST00000301522.2	-	2	205	c.77A>T	c.(76-78)aAa>aTa	p.K26I	CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.K26I|PRDX2_ENST00000334482.5_Missense_Mutation_p.K26I	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	26	Thioredoxin.				anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals		thioredoxin peroxidase activity	p.K26I(2)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTCACCTCTTTGAAGGCGCC	0.637000													5	18					0	0	0.001984	0	0
CCDC18	343099	broad.mit.edu	37	1	93722039	93722039	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:93722039G>A	ENST00000343253.7	+	25	3989	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	CCDC18_ENST00000557479.1_Missense_Mutation_p.E1282K|CCDC18_ENST00000401026.3_Missense_Mutation_p.E1164K|CCDC18_ENST00000334652.5_3'UTR|CCDC18_ENST00000338949.4_3'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	1163								p.E1282K(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGCACAGAGAGAAATAGAAAG	0.418000													8	91					0	0	0.004482	0	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													6	268					0	0	0.001168	0	0
YOD1	55432	broad.mit.edu	37	1	207222742	207222742	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:207222742C>T	ENST00000367084.1	-	4	742	c.538G>A	c.(538-540)Gag>Aag	p.E180K	YOD1_ENST00000315927.4_Missense_Mutation_p.E224K|YOD1_ENST00000391927.1_Missense_Mutation_p.E180K	NM_001276320.1	NP_001263249.1	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	224	OTU.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	p.E224K(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					ATCGATATCTCTATTGCTCCT	0.403000													44	179					0	0	0.003610	0	0
NUP188	23511	broad.mit.edu	37	9	131761475	131761475	+	Silent	SNP	C	C	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:131761475C>A	ENST00000372577.2	+	33	3561	c.3540C>A	c.(3538-3540)atC>atA	p.I1180I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1180					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.I1180I(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGATGAAATCCTTGGACCCT	0.547000											OREG0003925	type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	12	57					2.68362e-12	3.99102e-12	0.001368	1	0
TBCE	6905	broad.mit.edu	37	1	235577809	235577809	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:235577809A>G	ENST00000543662.1	+	4	353	c.247A>G	c.(247-249)Act>Gct	p.T83A	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000366601.3_Missense_Mutation_p.T83A|TBCE_ENST00000406207.1_Missense_Mutation_p.T83A			Q15813	TBCE_HUMAN	tubulin folding cofactor E	83					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGACTTTCTTACTGCAATTAA	0.388000													3	122					0	0	0.000248	0	0
KLK2	3817	broad.mit.edu	37	19	51378047	51378047	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:51378047G>T	ENST00000325321.3	+	2	342	c.117G>T	c.(115-117)caG>caT	p.Q39H	KLK2_ENST00000391810.2_Intron|KLK2_ENST00000597509.1_3'UTR|KLK2_ENST00000358049.4_Missense_Mutation_p.Q39H			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	39	Peptidase S1.				proteolysis		serine-type endopeptidase activity	p.Q39H(2)	KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		AACCCTGGCAGGTGGCTGTGT	0.617000			T	ETV4	prostate								13	43					1.49906e-05	2.18456e-05	0.002450	1	0
TFAP4	7023	broad.mit.edu	37	16	4312570	4312570	+	Silent	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:4312570G>T	ENST00000204517.6	-	2	550	c.222C>A	c.(220-222)ctC>ctA	p.L74L		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	74	Helix-loop-helix motif.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.L74L(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TGTGGGGGATGAGGGTCTTGA	0.637000													11	94					3.07112e-06	4.544e-06	0.000978	1	0
ADNP	23394	broad.mit.edu	37	20	49510947	49510947	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:49510947C>G	ENST00000396029.3	-	5	871	c.304G>C	c.(304-306)Gaa>Caa	p.E102Q	ADNP_ENST00000349014.3_Missense_Mutation_p.E102Q|ADNP_ENST00000371602.4_Missense_Mutation_p.E102Q|ADNP_ENST00000396032.3_Missense_Mutation_p.E102Q	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	102						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E102Q(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATCCTATTTTCAAAGTCTTCA	0.413000													11	79					0	0	0.001368	0	0
DDX1	1653	broad.mit.edu	37	2	15758387	15758387	+	Missense_Mutation	SNP	G	G	C	rs146515867		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:15758387G>C	ENST00000381341.2	+	17	1588	c.1199G>C	c.(1198-1200)aGa>aCa	p.R400T	DDX1_ENST00000233084.3_Missense_Mutation_p.R400T			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	400	Helicase ATP-binding.|Necessary for interaction with RELA.				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	p.R400T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GATGGAAAAAGACTTCAGGTA	0.368000													21	245					0	0	0.002780	0	0
KCTD16	57528	broad.mit.edu	37	5	143853393	143853393	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:143853393C>T	ENST00000507359.2	+	3	2094	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	KCTD16_ENST00000512467.1_Missense_Mutation_p.R335C	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	335						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R335C(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TCCCGTGACACGCCAGACCAA	0.597000													17	58					0	0	0.004990	0	0
RNF169	254225	broad.mit.edu	37	11	74546756	74546756	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:74546756G>C	ENST00000299563.4	+	6	1121	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	370							zinc ion binding	p.E370Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TGTCAGCCCTGAGAGCAATGA	0.532000													11	134					0	0	0.001368	0	0
HERC2P2	400322	broad.mit.edu	37	15	23285491	23285491	+	RNA	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:23285491C>T	ENST00000560464.1	-	0	5097																											TCCTCCCCGTCACAGTGTGCG	0.577000													4	16					0	0	0.000248	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954612	10954612	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:10954612G>A	ENST00000240687.2	-	1	614	c.558C>T	c.(556-558)ctC>ctT	p.L186L		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	186					sensory perception of taste	integral to membrane	taste receptor activity	p.L186L(1)		kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TTGCCAGGTTGAGAAATAACT	0.448000													4	24					0	0	0.000248	0	0
FGB	2244	broad.mit.edu	37	4	155491675	155491675	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:155491675G>A	ENST00000302068.4	+	8	1412	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	FGB_ENST00000509493.1_Missense_Mutation_p.G231E|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	450	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G450E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACTGGGGTGGACAGTACACC	0.463000													7	87					0	0	0.001984	0	0
AMZ2	51321	broad.mit.edu	37	17	66250612	66250612	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:66250612G>A	ENST00000359904.3	+	5	1786	c.654G>A	c.(652-654)gtG>gtA	p.V218V	AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000580753.1_Silent_p.V218V|AMZ2_ENST00000359783.4_Silent_p.V160V|AMZ2_ENST00000577985.1_Silent_p.V218V|AMZ2_ENST00000392720.2_Silent_p.V218V|AMZ2_ENST00000577866.1_Silent_p.V218V|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	218							metallopeptidase activity|zinc ion binding	p.V160V(1)|p.V218V(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGGCAAAGTGAAGAAGCTCA	0.358000													10	62					0	0	0.008291	0	0
FBXO38	81545	broad.mit.edu	37	5	147819233	147819233	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:147819233G>A	ENST00000340253.5	+	19	3216	c.3048G>A	c.(3046-3048)caG>caA	p.Q1016Q	FBXO38_ENST00000296701.6_Silent_p.Q771Q|FBXO38_ENST00000513826.1_Silent_p.Q771Q|FBXO38_ENST00000394370.3_Silent_p.Q941Q			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1016						cytoplasm|nucleus		p.Q1016Q(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGGAGCAGAAGCTATTTA	0.448000													9	102					0	0	0.008291	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161753	90161753	+	RNA	SNP	T	T	C	rs6500470	by1000genomes	TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:90161753T>C	ENST00000567960.1	+	0	489				TUBB8P7_ENST00000564451.1_RNA																							CAGACAGGATTATAAACACAT	0.562000													3	71					0	0	0.000602	0	0
RANBP9	10048	broad.mit.edu	37	6	13644815	13644815	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:13644815G>A	ENST00000011619.3	-	6	1132	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	RANBP9_ENST00000539980.1_Silent_p.I129I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	358					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	p.I358I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTCGATCTCCGATAGGAAATC	0.378000													14	142					0	0	0.004007	0	0
IL3RA	3563	broad.mit.edu	37	X	1464320	1464320	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chrX:1464320C>T	ENST00000331035.4	+	3	525	c.176C>T	c.(175-177)tCt>tTt	p.S59F	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	59						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.S59F(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGACTATTCTATGCCGGTA	0.348000													15	208					0	0	0.003163	0	0
ABCA3	21	broad.mit.edu	37	16	2331082	2331082	+	Silent	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:2331082G>C	ENST00000301732.5	-	28	5005	c.4305C>G	c.(4303-4305)ctC>ctG	p.L1435L	ABCA3_ENST00000382381.3_Silent_p.L1377L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1435	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L1435L(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCAGAAGTGAGGCTCTCCT	0.602000													3	51					0	0	0.004672	0	0
TFAP4	7023	broad.mit.edu	37	16	4312331	4312331	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:4312331G>A	ENST00000204517.6	-	3	676	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	116	Leucine-zipper 1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.F116F(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCACCTGGATGAAGCGCTTGA	0.622000													11	77					0	0	0.001368	0	0
APAF1	317	broad.mit.edu	37	12	99056294	99056294	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:99056294G>A	ENST00000357310.1	+	6	1348	c.771G>A	c.(769-771)caG>caA	p.Q257Q	APAF1_ENST00000359972.2_Silent_p.Q246Q|APAF1_ENST00000339433.3_Silent_p.Q257Q|APAF1_ENST00000333991.1_Silent_p.Q257Q|APAF1_ENST00000547045.1_Silent_p.Q257Q|APAF1_ENST00000552268.1_Silent_p.Q257Q|APAF1_ENST00000551964.1_Silent_p.Q257Q|APAF1_ENST00000550527.1_Silent_p.Q246Q|APAF1_ENST00000549007.1_Silent_p.Q257Q	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	257	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.Q257Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGACAGTCAGTGTCAGATTC	0.308000													16	91					0	0	0.008871	0	0
KRT13	3860	broad.mit.edu	37	17	39658760	39658760	+	Silent	SNP	G	G	A	rs147022064		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:39658760G>A	ENST00000246635.3	-	6	1156	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	KRT13_ENST00000587544.1_Silent_p.I370I|KRT13_ENST00000336861.3_Silent_p.I370I	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	370	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.I370I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCTGGGCCTCGATGCTGCTGA	0.602000													14	102					0	0	0.002450	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	27					0	0	0.004672	0	0
WDR81	124997	broad.mit.edu	37	17	1640965	1640965	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:1640965C>T	ENST00000409644.1	+	10	5812	c.5812C>T	c.(5812-5814)Cgc>Tgc	p.R1938C	WDR81_ENST00000545662.1_Missense_Mutation_p.R569C|WDR81_ENST00000437219.2_Missense_Mutation_p.R735C|WDR81_ENST00000419248.1_Missense_Mutation_p.R711C|WDR81_ENST00000446363.1_Missense_Mutation_p.R577C|WDR81_ENST00000309182.5_Missense_Mutation_p.R887C|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	711								p.R887C(1)|p.R1938C(1)|p.R735C(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGGGTTATCCGCCTCCTGGC	0.642000													4	25					0	0	0.000248	0	0
DDX27	55661	broad.mit.edu	37	20	47841720	47841720	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:47841720C>T	ENST00000371764.4	+	6	686	c.677C>T	c.(676-678)tCc>tTc	p.S226F	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	226						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.S226F(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATGAACCTTTCCCGCCCTCTT	0.428000													18	119					0	0	0.001523	0	0
F5	2153	broad.mit.edu	37	1	169487715	169487715	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:169487715C>G	ENST00000367796.3	-	23	6496	c.6295G>C	c.(6295-6297)Gat>Cat	p.D2099H	F5_ENST00000367797.3_Missense_Mutation_p.D2094H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2094	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.D2094H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCCCAGTAATCTCCCCACCAA	0.463000													9	71					0	0	0.006214	0	0
RNF19B	127544	broad.mit.edu	37	1	33402454	33402454	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:33402454C>T	ENST00000373456.7	-	9	2151	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K	RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.E717K	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	718						integral to membrane	ligase activity|protein binding|zinc ion binding	p.E527K(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTTTGTCCCTCGGCTAGGGCA	0.567000													28	168					0	0	0.007291	0	0
PSD3	23362	broad.mit.edu	37	8	18662370	18662370	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr8:18662370G>C	ENST00000440756.2	-	5	1775	c.1673C>G	c.(1672-1674)tCt>tGt	p.S558C	PSD3_ENST00000286485.8_Missense_Mutation_p.S24C|PSD3_ENST00000523619.1_Missense_Mutation_p.S493C|PSD3_ENST00000327040.8_Missense_Mutation_p.S558C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	558	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	p.S24C(1)|p.S558C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CCCCATTTCAGAATGAGCTTC	0.393000													19	225					0	0	0.008871	0	0
EIF2B3	8891	broad.mit.edu	37	1	45316677	45316677	+	Splice_Site	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:45316677T>C	ENST00000360403.2	-	12	1433		c.e12-2			NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa						negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	p.?(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					CTCGTTTAGCTACAAAAGAAA	0.443000													3	104					0	0	0.004672	0	0
SMYD1	150572	broad.mit.edu	37	2	88402637	88402637	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:88402637G>A	ENST00000419482.2	+	7	1034	c.949G>A	c.(949-951)Gac>Aac	p.D317N	SMYD1_ENST00000444564.2_Missense_Mutation_p.D304N|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.D317N(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGAAAAGATAGACAAGGCTCG	0.458000													6	63					0	0	0.001984	0	0
GLB1L2	89944	broad.mit.edu	37	11	134240907	134240907	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:134240907C>G	ENST00000535456.2	+	13	1409	c.1221C>G	c.(1219-1221)atC>atG	p.I407M	GLB1L2_ENST00000339772.7_Missense_Mutation_p.I407M|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.I407M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	407					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.I407M(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGCAGCCAATCAAGTCTGAAA	0.567000													19	124					0	0	0.002299	0	0
FAM155A	728215	broad.mit.edu	37	13	108518943	108518943	+	Translation_Start_Site	SNP	A	A	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr13:108518943A>G	ENST00000375915.2	-	1	140	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	1						integral to membrane	binding	p.M1T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACCCCTGGTCATATTTTGGGA	0.532000													9	77					0	0	0.004482	0	0
HECTD1	25831	broad.mit.edu	37	14	31576369	31576369	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:31576369C>T	ENST00000399332.1	-	38	7197	c.6709G>A	c.(6709-6711)Gag>Aag	p.E2237K	HECTD1_ENST00000553700.1_Missense_Mutation_p.E2237K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2237	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.E2237K(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTTCAAGCTCATCACTATCC	0.393000													7	62					0	0	0.001984	0	0
FAM208A	23272	broad.mit.edu	37	3	56667420	56667420	+	Silent	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr3:56667420G>C	ENST00000431842.2	-	11	3012	c.2088C>G	c.(2086-2088)ctC>ctG	p.L696L	FAM208A_ENST00000493960.2_Silent_p.L1133L|FAM208A_ENST00000355628.5_Silent_p.L1072L	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	1133								p.L696L(2)|p.L1072L(2)		NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						GTGGCTCAAGGAGATGTTTAT	0.438000													11	124					0	0	0.000978	0	0
IL27RA	9466	broad.mit.edu	37	19	14143202	14143202	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:14143202C>A	ENST00000263379.2	+	2	230	c.105C>A	c.(103-105)agC>agA	p.S35R		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	35					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	p.S35R(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTCCAGGCAGCGCCGGGCCAC	0.632000													8	103					0.00621372	0.00883322	0.006214	1	0
CENPQ	55166	broad.mit.edu	37	6	49456172	49456172	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:49456172G>C	ENST00000335783.3	+	7	679	c.585G>C	c.(583-585)gaG>gaC	p.E195D		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	195					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.E195D(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					AAGAAGAGGAGAGAGTAAAAC	0.308000													5	95					0	0	0.001168	0	0
EGFL6	25975	broad.mit.edu	37	X	13636018	13636018	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chrX:13636018C>G	ENST00000361306.1	+	8	1205	c.948C>G	c.(946-948)ttC>ttG	p.F316L	EGFL6_ENST00000380602.3_Missense_Mutation_p.F316L	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	316					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	p.F316L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGCAGCCCTTCAACTATGAAG	0.433000													7	99					0	0	0.004482	0	0
ACTR6	64431	broad.mit.edu	37	12	100617685	100617685	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr12:100617685G>C	ENST00000188312.2	+	11	1948	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	ACTR6_ENST00000551617.1_Missense_Mutation_p.D293H|ACTR6_ENST00000546902.1_Missense_Mutation_p.D313H|ACTR6_ENST00000552376.1_Missense_Mutation_p.D375H	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	395						cytoplasm|cytoskeleton		p.D395H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						AGAGAAATTTGATATTTAAGC	0.318000													7	86					0	0	0.001984	0	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:140453155C>G	ENST00000288602.6	-	15	1840	c.1780G>C	c.(1780-1782)Gat>Cat	p.D594H		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGACCAAAATCACCTATTTTT	0.378000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				7	67					0	0	0.004482	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134475673	134475673	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr8:134475673C>G	ENST00000319914.5	-	7	1740	c.713G>C	c.(712-714)aGa>aCa	p.R238T	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R238T|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R238T|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R238T			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	238					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.R238T(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CTGTTTCACTCTGATCTTTGC	0.547000													6	86					0	0	0.001984	0	0
OR2K2	26248	broad.mit.edu	37	9	114090198	114090198	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:114090198G>A	ENST00000374428.1	-	1	602	c.603C>T	c.(601-603)ctC>ctT	p.L201L	OR2K2_ENST00000302681.1_Silent_p.L172L			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L201L(1)|p.L172L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGTGATCGATGAGATTCCCAC	0.537000													5	59					0	0	0.001168	0	0
CD74	972	broad.mit.edu	37	5	149782841	149782841	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:149782841G>A	ENST00000009530.7	-	7	661	c.660C>T	c.(658-660)atC>atT	p.I220I	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	220	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	p.I220I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACAGCAGGGATGTGGCTGA	0.572000			T	ROS1	NSCLC								14	151					0	0	0.002450	0	0
GSS	2937	broad.mit.edu	37	20	33519152	33519152	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:33519152C>G	ENST00000216951.2	-	11	1196	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	GSS_ENST00000451957.2_Missense_Mutation_p.Q255H|GSS_ENST00000541098.1_Missense_Mutation_p.Q238H	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	366					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	p.Q366H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CACCCTCTCTCTGGGGCTTTA	0.587000													5	51					0	0	0.000602	0	0
KRT28	162605	broad.mit.edu	37	17	38953259	38953259	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:38953259G>C	ENST00000306658.7	-	5	952	c.887C>G	c.(886-888)tCa>tGa	p.S296*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	296	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.S296*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGCTGCGCCTGAGTCGTGGGA	0.662000													8	53					0	0	0.003080	0	0
SEC14L5	9717	broad.mit.edu	37	16	5056047	5056047	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:5056047G>T	ENST00000251170.7	+	12	1615	c.1435G>T	c.(1435-1437)Gtg>Ttg	p.V479L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	479	CRAL-TRIO.					integral to membrane|intracellular	transporter activity	p.V479L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGGAGAGAGTGTGGTGAGGCT	0.602000													5	38					1.23904e-05	1.81476e-05	0.000602	1	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858806	149858806	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:149858806G>A	ENST00000331380.2	+	1	282	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	94					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L94L(2)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACGAGGAACTGAACAAGCTGC	0.582000													21	121					0	0	0.001882	0	0
PTBP2	58155	broad.mit.edu	37	1	97278831	97278831	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:97278831G>C	ENST00000236228.6	+	14	1551	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	PTBP2_ENST00000370197.1_Missense_Mutation_p.R495T|PTBP2_ENST00000370198.1_Splice_Site|PTBP2_ENST00000541987.1_Splice_Site|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.R506T|PTBP2_ENST00000426398.2_Splice_Site	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	489	RRM 4.						nucleotide binding	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTTTCAGAAGAGATCACAAA	0.323000													11	98					0	0	0.000978	0	0
EPHB4	2050	broad.mit.edu	37	7	100420177	100420177	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr7:100420177T>C	ENST00000358173.3	-	4	992	c.524A>G	c.(523-525)tAc>tGc	p.Y175C	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.Y175C	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	175					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.Y175C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAAGGCCAGGTAGAAGCCAGC	0.637000													6	35					0	0	0.003080	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141841	64141841	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chrX:64141841G>C	ENST00000545618.1	-	3	629	c.66C>G	c.(64-66)atC>atG	p.I22M	ZC4H2_ENST00000447788.2_Missense_Mutation_p.I27M|ZC4H2_ENST00000374839.3_Missense_Mutation_p.I27M|ZC4H2_ENST00000337990.2_Missense_Mutation_p.I4M|ZC4H2_ENST00000488608.1_5'UTR			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	27							metal ion binding|protein binding	p.I27M(2)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AACGAGCCTTGATCTTCTCCA	0.468000													4	52					0	0	0.000248	0	0
IL16	3603	broad.mit.edu	37	15	81589336	81589336	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:81589336C>T	ENST00000394660.2	+	13	2330	c.1970C>T	c.(1969-1971)tCt>tTt	p.S657F	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000302987.4_Missense_Mutation_p.S657F|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	657					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S611F(1)|p.S657F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCTAGTGCCTCTGCCGGCTGC	0.592000													6	22					0	0	0.001168	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265841	89265841	+	RNA	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:89265841G>T	ENST00000464162.1	-	0	319																											GCAGGCTGCTGATGGTGAGAG	0.493000													34	265					6.53348e-20	9.81714e-20	0.003755	1	0
VPS13D	55187	broad.mit.edu	37	1	12378268	12378268	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:12378268C>T	ENST00000358136.3	+	31	7418	c.7288C>T	c.(7288-7290)Cgc>Tgc	p.R2430C	VPS13D_ENST00000356315.4_Missense_Mutation_p.R2430C	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2430					protein localization			p.R2430C(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TACTCCTTCTCGCCACCGTAA	0.438000													31	138					0	0	0.002836	0	0
SYNE1	23345	broad.mit.edu	37	6	152560670	152560670	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr6:152560670C>G	ENST00000367255.5	-	108	20666	c.20065G>C	c.(20065-20067)Gag>Cag	p.E6689Q	SYNE1_ENST00000341594.5_Missense_Mutation_p.E6301Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E6618Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6689Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6618Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1213Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6689					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.E6689Q(2)|p.E6618Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTCTCACCTCTAGAATGTAC	0.463000										HNSCC(10;0.0054)			8	64					0	0	0.008291	0	0
ACSL5	51703	broad.mit.edu	37	10	114136115	114136115	+	Silent	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:114136115G>T	ENST00000356116.1	+	1	160	c.48G>T	c.(46-48)ggG>ggT	p.G16G	ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	0					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.G16V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ACGAGCGAGGGAAGAAGGACA	0.622000													13	92					0.00010058	0.000144397	0.001368	1	0
ZNF253	56242	broad.mit.edu	37	19	20002899	20002899	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:20002899G>C	ENST00000589717.1	+	4	935	c.843G>C	c.(841-843)gaG>gaC	p.E281D	ZNF253_ENST00000355650.4_Missense_Mutation_p.E205D	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	281				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E281D(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATACTGGAGAGAAACCCTACA	0.413000													7	75					0	0	0.001984	0	0
PROM1	8842	broad.mit.edu	37	4	16019964	16019964	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:16019964G>A	ENST00000505450.1	-	8	1569	c.957C>T	c.(955-957)agC>agT	p.S319S	PROM1_ENST00000510224.1_Silent_p.S328S|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000447510.2_Silent_p.S328S|PROM1_ENST00000508167.1_Silent_p.S319S|PROM1_ENST00000540805.1_Silent_p.S328S|PROM1_ENST00000539194.1_Silent_p.S328S|PROM1_ENST00000543373.1_Silent_p.S319S	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	328					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.S327S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						GTTCAGGGTTGCTATTCAGCT	0.547000													7	36					0	0	0.004482	0	0
C5orf42	65250	broad.mit.edu	37	5	37169148	37169148	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:37169148C>G	ENST00000274258.7	-	34	7205	c.3618G>C	c.(3616-3618)ttG>ttC	p.L1206F	C5orf42_ENST00000508244.1_Missense_Mutation_p.L2326F|C5orf42_ENST00000425232.2_Missense_Mutation_p.L2326F			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2326								p.L1206F(1)|p.L2326F(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GTTGAGGTGTCAAATTTTCTT	0.383000													22	151					0	0	0.002299	0	0
TTC40	54777	broad.mit.edu	37	10	134647588	134647588	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:134647588C>T	ENST00000368586.5	-	49	7006	c.6906G>A	c.(6904-6906)tcG>tcA	p.S2302S	TTC40_ENST00000263170.5_Silent_p.S463S	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	463								p.S463S(1)|p.S2302S(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTTTGCCCTTCGACTTCCCTG	0.522000													14	120					0	0	0.004007	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089908	73089908	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:73089908C>T	ENST00000450736.2	+	2	592	c.177C>T	c.(175-177)ctC>ctT	p.L59L	SLC16A5_ENST00000580123.1_Silent_p.L59L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L59L|SLC16A5_ENST00000538213.2_Silent_p.L99L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	59					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.L59L(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCTCCATCCTCACGGCTGTGC	0.597000													7	132					0	0	0.008291	0	0
STIM2	57620	broad.mit.edu	37	4	27004688	27004688	+	Silent	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:27004688T>C	ENST00000382009.3	+	7	1471	c.1204T>C	c.(1204-1206)Ttg>Ctg	p.L402L	STIM2_ENST00000465503.1_Silent_p.L315L|STIM2_ENST00000467011.1_Silent_p.L315L|STIM2_ENST00000412829.2_Silent_p.L402L|STIM2_ENST00000237364.5_Silent_p.L402L|STIM2_ENST00000467087.1_Silent_p.L315L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	315					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.L402L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TGAATGTGAATTGAGTAGACG	0.398000													7	59					0	0	0.001984	0	0
UMOD	7369	broad.mit.edu	37	16	20348643	20348643	+	Silent	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:20348643G>C	ENST00000396134.2	-	9	1932	c.1809C>G	c.(1807-1809)ctC>ctG	p.L603L	UMOD_ENST00000424589.1_Silent_p.L603L|UMOD_ENST00000302509.4_Silent_p.L570L|UMOD_ENST00000396138.4_Silent_p.L619L|UMOD_ENST00000396142.2_Silent_p.L570L|UMOD_ENST00000570689.1_Silent_p.L570L|UMOD_ENST00000570331.1_5'UTR	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	570					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.L570L(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGGTGTCACAGAGATAGACTT	0.493000													7	38					0	0	0.003080	0	0
HES4	57801	broad.mit.edu	37	1	935105	935105	+	Silent	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:935105G>C	ENST00000428771.2	-	1	447	c.249C>G	c.(247-249)ctC>ctG	p.L83L	HES4_ENST00000304952.6_Silent_p.L57L|HES4_ENST00000484667.2_Intron	NM_001142467.1|NM_021170.3	NP_001135939.1|NP_066993.1	Q9HCC6	HES4_HUMAN	hes family bHLH transcription factor 4	57	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L57L(1)		lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGAGGGTTTTGAGCTGAGCGA	0.662000													6	47					0	0	0.001984	0	0
PYCR2	29920	broad.mit.edu	37	1	226109325	226109325	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:226109325G>A	ENST00000343818.6	-	5	708	c.560C>T	c.(559-561)gCa>gTa	p.A187V	RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.A113V|PYCR2_ENST00000478402.1_5'UTR	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	187					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	p.A187V(1)		kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	ATCAGCCAATGCGTCCAGAGC	0.562000													10	58					0	0	0.000978	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593840	7593840	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:7593840T>C	ENST00000264079.6	+	9	1243	c.1118T>C	c.(1117-1119)aTc>aCc	p.I373T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	373					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	p.I373T(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCATGAAGATCGGCATCGAG	0.632000													4	41					0	0	0.001984	0	0
MTIF2	4528	broad.mit.edu	37	2	55463886	55463886	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:55463886G>A	ENST00000394600.3	-	17	2818	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	MTIF2_ENST00000263629.4_Silent_p.L694L|MTIF2_ENST00000403721.1_Silent_p.L694L	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	694					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	p.L694L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CATCTAAACTGAGACCACAAT	0.333000													5	52					0	0	0.000602	0	0
HRNR	388697	broad.mit.edu	37	1	152191807	152191807	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:152191807G>A	ENST00000368801.2	-	3	2373	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	766					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCTTGTCGGCCGTGGCCCG	0.587000													4	149					0	0	0.000248	0	0
ATMIN	23300	broad.mit.edu	37	16	81078195	81078195	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:81078195G>A	ENST00000566488.1	+	3	2587	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.E542K|ATMIN_ENST00000299575.4_Missense_Mutation_p.E698K			O43313	ATMIN_HUMAN	ATM interactor	698					response to DNA damage stimulus	nucleus	zinc ion binding	p.E698K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTTAGGCCTTGAGATGTTTGA	0.453000													25	217					0	0	0.006320	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988655	103988655	+	Silent	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr10:103988655C>G	ENST00000370005.3	+	4	680	c.459C>G	c.(457-459)ctC>ctG	p.L153L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	153					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	p.L153L(1)		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)		GCACAGTGCTCGTGTACACAA	0.498000													17	118					0	0	0.007413	0	0
CENPF	1063	broad.mit.edu	37	1	214816089	214816089	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:214816089G>C	ENST00000366955.3	+	12	4576	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1566	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1470Q(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTTGGAGGAGGGGCTCGT	0.478000													23	51					0	0	0.002780	0	0
CC2D2A	57545	broad.mit.edu	37	4	15539654	15539654	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:15539654G>C	ENST00000424120.1	+	16	2151	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	CC2D2A_ENST00000389652.5_Missense_Mutation_p.E584Q|CC2D2A_ENST00000503292.1_Missense_Mutation_p.E633Q|CC2D2A_ENST00000413206.1_Missense_Mutation_p.E633Q|CC2D2A_ENST00000513811.1_3'UTR			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	633					cell projection organization	cilium|microtubule basal body		p.E633Q(1)|p.E584Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATAGAGCAGGAGGTGAGGGA	0.612000													3	12					0	0	0.004672	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070636	32070636	+	RNA	SNP	T	T	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr16:32070636T>A	ENST00000566806.1	-	0	499																											CACCTTCACCTACTGCTACTT	0.507000													5	66					0	0	0.001984	0	0
VPS13B	157680	broad.mit.edu	37	8	100155244	100155244	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr8:100155244A>T	ENST00000395996.1	+	13	1805	c.1694A>T	c.(1693-1695)gAt>gTt	p.D565V	VPS13B_ENST00000355155.1_Missense_Mutation_p.D565V|VPS13B_ENST00000357162.2_Missense_Mutation_p.D565V|VPS13B_ENST00000358544.2_Missense_Mutation_p.D565V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	565					protein transport			p.D565V(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAAGTGAAGATTTGGGAACA	0.343000													6	47					0	0	0.001984	0	0
CYP27A1	1593	broad.mit.edu	37	2	219677453	219677453	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:219677453G>T	ENST00000258415.4	+	4	1252	c.825G>T	c.(823-825)tgG>tgT	p.W275C		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	275					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	p.W275C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGGATGGTTGGAATGCCATCT	0.567000													30	199					3.80469e-20	5.74667e-20	0.001786	1	0
TARSL2	123283	broad.mit.edu	37	15	102211689	102211689	+	Splice_Site	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:102211689C>T	ENST00000335968.3	-	15	2183	c.1967_splice	c.e15+1	p.S656_splice		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	656					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	p.S656N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCACTCACCTAACATATGT	0.299000													15	102					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79373458	79373458	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:79373458G>C	ENST00000264895.6	+	47	7153	c.6713G>C	c.(6712-6714)aGa>aCa	p.R2238T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2237					cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2239T(1)|p.R2238T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGATCTACAGAATCACCAGA	0.458000													9	42					0	0	0.004482	0	0
FABP6	2172	broad.mit.edu	37	5	159640748	159640748	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr5:159640748G>A	ENST00000393980.4	+	3	203	c.57G>A	c.(55-57)ctG>ctA	p.L19L	FABP6_ENST00000393982.1_Silent_p.L19L	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.L19L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCAGGTTCTGAGAGCTGTGT	0.507000													15	116					0	0	0.004990	0	0
GADD45G	10912	broad.mit.edu	37	9	92220654	92220654	+	Silent	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr9:92220654C>T	ENST00000252506.6	+	3	337	c.228C>T	c.(226-228)atC>atT	p.I76I	GADD45G_ENST00000375769.1_Silent_p.I58I|GADD45G_ENST00000494726.1_Intron	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	76					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	p.I76I(1)		lung(2)	2						CGCTGCAGATCCATTTTACGC	0.647000													6	34					0	0	0.001168	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066039	153066039	+	Silent	SNP	G	G	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr1:153066039G>A	ENST00000368751.1	-	2	263	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SPRR2E_ENST00000368750.3_Silent_p.C63C|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	63					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTTGGCTGGCAGGGTGGGG	0.542000													6	385					0	0	0.001984	0	0
RNF31	55072	broad.mit.edu	37	14	24619469	24619469	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:24619469G>C	ENST00000324103.6	+	7	1329	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	RNF31_ENST00000559275.1_Missense_Mutation_p.E186Q|RNF31_ENST00000382687.3_Missense_Mutation_p.E186Q	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	337	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.E337Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTTGGGAACTGAGGGTCCCCA	0.602000													3	35					0	0	0.004672	0	0
MYH6	4624	broad.mit.edu	37	14	23868018	23868018	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr14:23868018C>G	ENST00000405093.3	-	15	1880	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	MYH6_ENST00000356287.3_Missense_Mutation_p.E604Q	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	604	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.E604Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACAACAGTCTCGTTGAGAGGA	0.567000													6	63					0	0	0.001168	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22840267	22840267	+	Silent	SNP	G	G	C	rs140377004	by1000genomes	TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:22840267G>C	ENST00000283645.4	+	4	463	c.333G>C	c.(331-333)ctG>ctC	p.L111L	TUBGCP5_ENST00000453949.2_Silent_p.L111L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	111					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.L111L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTCCATACTGTCACTTCTTC	0.363000													15	118					0	0	0.006122	0	0
ABLIM2	84448	broad.mit.edu	37	4	8082509	8082509	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr4:8082509C>T	ENST00000296372.8	-	5	617	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	ABLIM2_ENST00000341937.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000407564.3_Missense_Mutation_p.E159K|ABLIM2_ENST00000318888.4_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000505872.1_Missense_Mutation_p.E159K|ABLIM2_ENST00000361737.5_Missense_Mutation_p.E159K|ABLIM2_ENST00000545242.1_Missense_Mutation_p.E159K|ABLIM2_ENST00000428004.2_Missense_Mutation_p.E159K|ABLIM2_ENST00000447017.2_Missense_Mutation_p.E159K|ABLIM2_ENST00000546334.1_Missense_Mutation_p.E159K			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	159	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding	p.E159K(1)		NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TTCTTGATTTCTGTGCCGCAG	0.557000													6	33					0	0	0.003080	0	0
BPIFB2	80341	broad.mit.edu	37	20	31609588	31609588	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:31609588G>C	ENST00000170150.3	+	15	1513	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	440						extracellular region	lipid binding	p.E440Q(1)									TGTCGCCCCTGAGATCTTTGT	0.587000													9	82					0	0	0.008291	0	0
LEPREL4	10609	broad.mit.edu	37	17	39967121	39967121	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:39967121T>A	ENST00000355468.3	-	4	1247	c.781A>T	c.(781-783)Ata>Tta	p.I261L	LEPREL4_ENST00000393928.1_Missense_Mutation_p.I261L			Q92791	SC65_HUMAN	leprecan-like 4	261					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	p.I261L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ATACCTGCTATGGCCGGGTAG	0.637000													4	23					0	0	0.000248	0	0
RTEL1	51750	broad.mit.edu	37	20	62324308	62324308	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr20:62324308C>T	ENST00000318100.4	+	29	3630	c.2803C>T	c.(2803-2805)Ctc>Ttc	p.L935F	RTEL1_ENST00000370003.1_Missense_Mutation_p.L180F|RTEL1_ENST00000370018.3_Missense_Mutation_p.L935F|RTEL1_ENST00000360203.5_Missense_Mutation_p.L935F|RTEL1_ENST00000508582.2_Missense_Mutation_p.L959F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.L935F			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	935					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.L935F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGCCGCCTGTCTCGGCCCCCT	0.652000													13	140					0	0	0.003163	0	0
HOMER2	9455	broad.mit.edu	37	15	83520967	83520967	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:83520967C>T	ENST00000304231.8	-	7	914	c.722G>A	c.(721-723)aGa>aAa	p.R241K	HOMER2_ENST00000399166.2_Missense_Mutation_p.R175K|HOMER2_ENST00000426485.1_Missense_Mutation_p.R186K|HOMER2_ENST00000450735.2_Missense_Mutation_p.R230K	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	241					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		p.R304K(1)|p.R241K(1)		cervix(1)|endometrium(2)|lung(6)	9						CTCCTTCTCTCTGTTGATCTC	0.502000													3	55					0	0	0.004672	0	0
MED15P9	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	A	-			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr2:130893081delA	ENST00000427638.1	+	0	542					NR_033903.1																						actccatctcaaaaaaaaaaa	0.562													2	4	---	---	---	---					
C11orf74	119710	broad.mit.edu	37	11	36669602	36669620	+	Frame_Shift_Del	DEL	TAAGCACCAGCATTCCTTC	TAAGCACCAGCATTCCTTC	-	rs148376199		TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr11:36669602_36669620delTAAGCACCAGCATTCCTTC	ENST00000446510.2	+	5	494_512	c.395_413delTAAGCACCAGCATTCCTTC	c.(394-414)gcfs	p.VSTSIPS132fs	C11orf74_ENST00000534635.1_Frame_Shift_Del_p.VSTSIPS58fs|C11orf74_ENST00000334307.5_Frame_Shift_Del_p.VSTSIPS132fs|C11orf74_ENST00000347206.4_Frame_Shift_Del_p.VSTSIPS58fs			Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	132										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GAGCAGGATGTAAGCACCAGCATTCCTTCCTGTATCCCT	0.452													9	133	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													4	6	---	---	---	---					
CTC-281F24.1	0	broad.mit.edu	37	17	6558134	6558135	+	RNA	DEL	CA	CA	-	rs66831436	by1000genomes	TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:6558134_6558135delCA	ENST00000576138.1	-	0	119																											GAAGGAGGCCCAGGGGAAGCGG	0.589													6	1	---	---	---	---					
RAD51C	5889	broad.mit.edu	37	17	56774132	56774132	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr17:56774132delG	ENST00000337432.4	+	3	554	c.483delG	c.(481-483)gafs	p.E161fs	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Frame_Shift_Del_p.E161fs	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	161					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACAGAGGGAAGTTTTA	0.423								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				11	89	---	---	---	---					
ATP8B3	148229	broad.mit.edu	37	19	1805421	1805421	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr19:1805421delC	ENST00000539485.1	-	10	1089	c.856delG	c.(856-858)tcfs	p.V286fs	ATP8B3_ENST00000526092.1_Frame_Shift_Del_p.V233fs|ATP8B3_ENST00000310127.6_Frame_Shift_Del_p.V286fs|ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.V233fs			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	286					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTGGGTGACCATCAGGGCC	0.527													2	4	---	---	---	---					
MAPK12	6300	broad.mit.edu	37	22	50699715	50699715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5044-01A-21D-1855-08	TCGA-50-5044-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec034986-4bf7-4554-b635-ca6d9c30da28	27f19543-1a9f-4521-a46a-f4c470a4a5b0	g.chr22:50699715delC	ENST00000215659.8	-	2	451	c.136delG	c.(136-138)acfs	p.D46fs	MAPK12_ENST00000395778.3_Frame_Shift_Del_p.D46fs|MAPK12_ENST00000395780.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	46	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGCGGCCGTCCACGGCCGAG	0.756													2	4	---	---	---	---