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
PPFIA3	8541	broad.mit.edu	37	19	49633700	49633700	+	Silent	SNP	C	C	T	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687000													4	11					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597000	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			37	91					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349247	189349247	+	Translation_Start_Site	SNP	A	A	T	rs28673064	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368000										HNSCC(45;0.13)			5	69					0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000252854.4	+	6	992	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547000													32	60					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731000													3	15					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100055181	100055181	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383000								Direct reversal of damage					18	137					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62648047	62648047	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:62648047G>T	ENST00000383710.4	-	4	1260	c.911C>A	c.(910-912)gCa>gAa	p.A304E	CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000490353.2_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	304					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GATCTGGGCTGCTTGCTCATC	0.473000													9	58					1.12685e-05	1.29212e-05	1	1	0
TELO2	9894	broad.mit.edu	37	16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637000													10	82					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67300891	67300891	+	Silent	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGTCGCAATGACTGCCATAA	0.323000													13	73					0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491054	26491054	+	Silent	SNP	G	G	A	rs143718810		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:26491054G>A	ENST00000295589.3	-	2	359	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	55					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCCCAGCACGCTGAGCAGGA	0.567000													30	77					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTTACAGATGATAATCCATA	0.323000													5	34					0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383000													30	346					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000292609.4	-	2	662	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542000													7	127					0.00198382	0.0021326	1	1	0
CENPE	1062	broad.mit.edu	37	4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353000													4	65					0.014758	0.0149316	1	1	0
SCNN1B	0	broad.mit.edu	37	16	23364121	23364121	+	Splice_Site	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502000													8	104					0.00621372	0.00636166	1	1	0
FREM2	341640	broad.mit.edu	37	13	39433450	39433450	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:39433450C>T	ENST00000280481.7	+	14	7458	c.7242C>T	c.(7240-7242)taC>taT	p.Y2414Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2414					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGACTACGATAAAACAG	0.498000													17	105					0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335185	335185	+	Silent	SNP	G	G	A	rs45503892	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:335185G>A	ENST00000219406.6	+	5	798	c.780G>A	c.(778-780)acG>acA	p.T260T	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.T257T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	260					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCTGGTCACGGAGTTCAACA	0.662000													3	39					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377363	18377363	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:18377363T>C	ENST00000392413.3	-	3	1202	c.987A>G	c.(985-987)atA>atG	p.I329M	KIAA1683_ENST00000600359.2_Missense_Mutation_p.I283M|KIAA1683_ENST00000600328.2_Missense_Mutation_p.I329M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	329						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCTGGACATATCTGGAAGG	0.567000													49	62					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353000										TSP Lung(6;0.00050)			21	131					4.35082e-09	5.27e-09	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATCAGGTAGATGATCAGTA	0.313000													8	69					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000316997.4	+	3	1294	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403000													15	49					6.31663e-08	7.44151e-08	1	1	0
NALCN	259232	broad.mit.edu	37	13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161						integral to membrane	sodium channel activity|voltage-gated ion channel activity			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)					CTTGGCAGTTCAAATCGGAAA	0.373000													11	60					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617151	111617151	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:111617151G>A	ENST00000374667.3	-	1	2088	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGGAAGCGCTCGGGGAAG	0.672000													24	55					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													3	38					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048621	180048621	+	Silent	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000502649.1_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687000													13	26					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	848	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468000													9	49					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6896512	6896512	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:6896512G>T	ENST00000419673.2	+	15	1657	c.1440G>T	c.(1438-1440)ccG>ccT	p.P480P	ARHGAP28_ENST00000383472.4_Silent_p.P639P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000531294.1_Silent_p.P475P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	462					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTGACGTGCCGGAAGGAGTCA	0.443000													4	27					0.184627	0.184627	1	1	0
TRMT6	51605	broad.mit.edu	37	20	5931051	5931051	+	Translation_Start_Site	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr20:5931051T>A	ENST00000203001.2	-	1	131	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	1					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GAGCCCTCCATGACGCTCAGC	0.677000													8	33					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512000													25	109					1.55469e-16	1.96623e-16	1	1	0
LINGO2	158038	broad.mit.edu	37	9	27949700	27949700	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:27949700G>A	ENST00000379992.2	-	6	1419	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGAGCACGCGTAGGAAGCGG	0.537000													30	101					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261949	39261949	+	Silent	SNP	T	T	C	rs7212474	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:39261949T>C	ENST00000391415.1	+	1	366	c.309T>C	c.(307-309)acT>acC	p.T103T		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	103	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCCAACCCACTTGCTGTCGCC	0.652000													4	21					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25423748	25423748	+	RNA	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:25423748G>T	ENST00000441592.2	+	0	319																											CCAGGCCAGTGGTTGTCATCC	0.627000													34	34					4.74835e-14	5.91824e-14	1	1	0
GALNTL5	168391	broad.mit.edu	37	7	151684285	151684285	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:151684285C>T	ENST00000392800.2	+	5	831	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	193	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGAAACTTTTCGGGGAAAGGT	0.378000													15	49					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639553	158639553	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368148.3	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K	SPTA1_ENST00000368147.3_Silent_p.K541K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	541					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418000													103	170					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:81123531C>A	ENST00000339711.4	+	10	2146	c.915C>A	c.(913-915)atC>atA	p.I305I	PRDM8_ENST00000415738.2_Silent_p.I305I|PRDM8_ENST00000504452.1_Silent_p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0.004672	0.0048999	1	1	0
DLL4	54567	broad.mit.edu	37	15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602000													17	7					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3102500	3102500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:3102500G>A	ENST00000356443.4	-	23	3880	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1183	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCCAATCGTGGAGAGTCC	0.433000													8	116					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64017904	64017904	+	Missense_Mutation	SNP	C	C	T	rs147579680		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr12:64017904C>T	ENST00000324472.4	-	8	1052	c.869G>A	c.(868-870)cGt>cAt	p.R290H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	290					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCACATCACACGGGTGGCCTG	0.353000													3	39					0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49207194	49207194	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567000													18	97					1.99824e-07	2.32227e-07	1	1	0
SDAD1P1	0	broad.mit.edu	37	8	26239000	26239000	+	RNA	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr8:26239000G>C	ENST00000519902.1	-	0	948																											CTGCAGTCAGGTTGCTGGGCA	0.488000													5	15					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255871	15255871	+	Silent	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:15255871G>A	ENST00000378116.4	-	8	1722	c.1716C>T	c.(1714-1716)agC>agT	p.S572S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	572						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTGTAAACGCTGTCATTGA	0.567000													51	93					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388000													8	47					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130079559	130079559	+	Silent	SNP	T	T	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:130079559T>G	ENST00000278742.5	+	19	2827	c.2409T>G	c.(2407-2409)ggT>ggG	p.G803G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	803	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCGCCCAGGGTGATTCCGGGG	0.721000													5	19					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000340415.3	+	8	1487	c.478G>A	c.(478-480)Gtt>Att	p.V160I	RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	65					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000453654.1	-	9	674	c.135C>A	c.(133-135)agC>agA	p.S45R	DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000288490.5_Missense_Mutation_p.S345R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	345					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438000													8	42					2.17888e-05	2.46557e-05	1	1	0
PDIA6	10130	broad.mit.edu	37	2	10929048	10929048	+	Silent	SNP	A	A	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000404371.2	-	11	1393	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A	PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000381611.4_Silent_p.A305A			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463000													50	81					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036414	32036414	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612000													7	76					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42455141	42455141	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478000													7	52					0.00448238	0.00475907	1	1	0
PAQR4	124222	broad.mit.edu	37	16	3021853	3021853	+	Silent	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.I175I|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677000													7	39					0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572000													33	30					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697000													3	38					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49800527	49800527	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:49800527C>A	ENST00000299338.6	-	11	1196	c.893G>T	c.(892-894)gGc>gTc	p.G298V	FAM227B_ENST00000561064.1_Missense_Mutation_p.G264V	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		GATCCAAAAGCCTTTTTGAGG	0.313000													24	35					1.55469e-16	1.96623e-16	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000346085.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547000													4	45					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408000													62	124					0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343826	38343826	+	Silent	SNP	T	T	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000374618.3	+	5	952	c.774T>C	c.(772-774)gaT>gaC	p.D258D	ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	257						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388000													11	64					0	0	1	0	0
NBEAP1	0	broad.mit.edu	37	15	20876452	20876452	+	RNA	SNP	G	G	A	rs6422239	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:20876452G>A	ENST00000556948.1	-	0	148																											CTTTGCAGGTGTATGTATCCA	0.333000													14	34					0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCCAGAATGGCACGTAGCTA	0.473000													4	62					0.00024832	0.000273789	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000346085.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542000													4	45					0	0	1	0	0
OFCC1	266553	broad.mit.edu	37	6	9933495	9933495	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:9933495T>A	ENST00000316020.6	-	3	262	c.263A>T	c.(262-264)aAg>aTg	p.K88M	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTCAGCCGACTTGGATTTCTT	0.368000													11	53					0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478000													28	37					0	0	1	0	0
FAM126A	84668	broad.mit.edu	37	7	22985646	22985646	+	Silent	SNP	A	A	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423000													67	139					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTATATCCAAGAATTAGATTA	0.318000													7	66					0	0	1	0	0
UBE2D3	7323	broad.mit.edu	37	4	103720584	103720584	+	Silent	SNP	G	G	T			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358000													9	37					0.00621372	0.00636166	1	1	0
SNX13	23161	broad.mit.edu	37	7	17933026	17933026	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:17933026delT	ENST00000409389.1	-	3	329	c.157delA	c.(157-159)cafs	p.T53fs	SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs|SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	53					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAGTTTGTTTTTCCAAAC	0.338													2	4	---	---	---	---					
GTPBP10	85865	broad.mit.edu	37	7	90014223	90014224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:90014223_90014224insA	ENST00000222511.6	+	10	985_986	c.919_920insA	c.(919-921)aaafs	p.K307fs	GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.K228fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327													27	80	---	---	---	---					
DPY19L2P2	0	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:102883498delA	ENST00000312132.4	-	0	2616																											GTACCACTGTAAAAAAAAAAA	0.284													7	26	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													4	3	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													5	7	---	---	---	---					
IGHV3-23	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													8	168	---	---	---	---					
