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
DNAAF1	123872	broad.mit.edu	37	16	84182725	84182725	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:84182725G>A	ENST00000378553.5	+	2	362	c.238G>A	c.(238-240)Gac>Aac	p.D80N	DNAAF1_ENST00000334315.5_Missense_Mutation_p.D80N	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	80			Missing (in CILD13).		axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding	p.D80N(1)		NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CCCAAGAGAAGACAGGGAAGA	0.488000													19	41					0	0	0.043863	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937473	82937473	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:82937473G>T	ENST00000274341.4	-	5	1757	c.907C>A	c.(907-909)Cgc>Agc	p.R303S		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	303	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.D302_R303>ES(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GCATCACAGCGGTCATATCCG	0.557000													53	80					3.68337e-26	6.02224e-26	0.139131	1	0
RYR2	6262	broad.mit.edu	37	1	237538083	237538083	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237538083G>T	ENST00000366574.2	+	7	768	c.451G>T	c.(451-453)Gag>Tag	p.E151*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E149*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E135*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	151	MIR 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E149*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGCTTGCAAGAGGACACCAC	0.493000													19	5					2.4624e-09	3.10507e-09	0.049695	1	0
ARMC3	219681	broad.mit.edu	37	10	23290868	23290868	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:23290868G>T	ENST00000298032.5	+	12	1530	c.1446G>T	c.(1444-1446)ttG>ttT	p.L482F	ARMC3_ENST00000409983.3_Missense_Mutation_p.L482F|ARMC3_ENST00000376528.4_Missense_Mutation_p.L219F|ARMC3_ENST00000409049.3_Missense_Mutation_p.L482F	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	482							binding	p.L482F(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTGGTGGATTGGAGCCCCTGG	0.428000													15	4					6.31663e-08	7.56588e-08	0.132662	1	0
PRR23A	729627	broad.mit.edu	37	3	138724422	138724422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:138724422G>T	ENST00000383163.2	-	1	688	c.689C>A	c.(688-690)cCt>cAt	p.P230H		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	230	Pro-rich.							p.P230N(1)		endometrium(3)|kidney(1)|lung(7)	11						AGGTTGGAGAGGTGAGCTGGG	0.677000													4	10					0.00024832	0.000266278	0.009096	1	0
CXCL6	6372	broad.mit.edu	37	4	74702948	74702948	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:74702948T>G	ENST00000226317.5	+	3	525	c.271T>G	c.(271-273)Tgt>Ggt	p.C91G	CXCL6_ENST00000503446.1_3'UTR|CXCL6_ENST00000515050.1_Missense_Mutation_p.C91G	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	91					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.C91G(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAGCAAGTTTGTCTGGACCC	0.453000													37	30					0	0	0.086207	0	0
KMT2C	58508	broad.mit.edu	37	7	151962287	151962287	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:151962287T>A	ENST00000355193.2	-	8	1238	c.1020A>T	c.(1018-1020)gaA>gaT	p.E340D	KMT2C_ENST00000262189.6_Missense_Mutation_p.E340D					lysine (K)-specific methyltransferase 2C									p.E340D(2)									AGTTTGCATCTTCCTTCGCTA	0.368000													5	94					0	0	0.038147	0	0
GLIS1	148979	broad.mit.edu	37	1	53995556	53995556	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:53995556C>G	ENST00000312233.2	-	4	1431	c.865G>C	c.(865-867)Gag>Cag	p.E289Q		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	289					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E289Q(1)|p.E289K(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TACGGCTTCTCGCCCGTGTGG	0.637000													18	21					0	0	0.043863	0	0
NEFM	4741	broad.mit.edu	37	8	24775339	24775339	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:24775339G>T	ENST00000221166.5	+	3	2753	c.1971G>T	c.(1969-1971)ccG>ccT	p.P657P	NEFM_ENST00000433454.2_Silent_p.P281P|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	657	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.P657P(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCTGTGCCGAAATCACCAG	0.502000													33	4					1.56442e-22	2.44618e-22	0.050027	1	0
SLC9A6	10479	broad.mit.edu	37	X	135067822	135067822	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:135067822A>T	ENST00000370695.4	+	1	196	c.161A>T	c.(160-162)gAc>gTc	p.D54V	SLC9A6_ENST00000370701.1_Missense_Mutation_p.D2V|SLC9A6_ENST00000370698.3_Missense_Mutation_p.D54V	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	54					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.D54V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					AGAGCCATGGACGAGGAGATC	0.647000													22	43					0	0	0.083992	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559000	140559000	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140559000G>C	ENST00000239444.2	+	1	1630	c.1385G>C	c.(1384-1386)cGc>cCc	p.R462P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R462P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTCGTCCGCGAGAACAAC	0.627000													41	204					0	0	0.139131	0	0
DST	667	broad.mit.edu	37	6	56472232	56472232	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:56472232T>C	ENST00000370754.5	-	39	7094	c.7095A>G	c.(7093-7095)atA>atG	p.I2365M	DST_ENST00000312431.6_Missense_Mutation_p.I2187M|DST_ENST00000446842.2_Missense_Mutation_p.I1861M|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.I2187M|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.I2187M|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2187					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAGGATTTTCTATTAAATCAC	0.299000													6	12					0	0	0.021553	0	0
FOXD1	2297	broad.mit.edu	37	5	72743820	72743820	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:72743820A>T	ENST00000499003.3	-	1	532	c.368T>A	c.(367-369)cTg>cAg	p.L123Q		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	123					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L123Q(2)		endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		CGGCTTCACCAGCGGGTTCTT	0.736000													5	10					0	0	0.014758	0	0
GRM8	2918	broad.mit.edu	37	7	126410120	126410120	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:126410120C>A	ENST00000339582.2	-	7	1965		c.e7-1		GRM8_ENST00000405249.1_Splice_Site|GRM8_ENST00000358373.3_Splice_Site|GRM8_ENST00000480995.1_Splice_Site|GRM8_ENST00000444921.2_Splice_Site			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8						negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.?(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTCCAGCCCTGCAAAATAA	0.378000										HNSCC(24;0.065)			16	12					1.52009e-12	2.06195e-12	0.132662	1	0
NPAS4	266743	broad.mit.edu	37	11	66191875	66191875	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:66191875C>T	ENST00000311034.2	+	7	1690	c.1514C>T	c.(1513-1515)aCc>aTc	p.T505I		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	505					transcription, DNA-dependent		DNA binding|signal transducer activity	p.T505I(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTCCCTGCACCTCCACCTTC	0.587000													103	93					0	0	0.139131	0	0
FCGBP	8857	broad.mit.edu	37	19	40430472	40430472	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:40430472T>G	ENST00000221347.6	-	3	1478	c.1471A>C	c.(1471-1473)Atg>Ctg	p.M491L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	491	VWFD 1.					extracellular region	protein binding	p.M491L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGTGCCCATCATGTCGTAG	0.687000													4	6					0	0	0.009096	0	0
GPLD1	2822	broad.mit.edu	37	6	24447133	24447133	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:24447133G>A	ENST00000230036.1	-	18	1863	c.1753C>T	c.(1753-1755)Cac>Tac	p.H585Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	585						extracellular region	glycosylphosphatidylinositol phospholipase D activity	p.H585Y(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GTGACACCGTGAAGGGAATAT	0.522000													31	32					0	0	0.045705	0	0
NPR1	4881	broad.mit.edu	37	1	153660565	153660565	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:153660565C>A	ENST00000368680.3	+	15	2757	c.2285C>A	c.(2284-2286)cCc>cAc	p.P762H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	762	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.P762H(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCAGCCCCCCTTCCGGCCC	0.667000													35	60					2.09667e-21	3.23142e-21	0.064281	1	0
COL9A3	1299	broad.mit.edu	37	20	61467557	61467557	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:61467557C>A	ENST00000343916.3	+	28	1423	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	474	Triple-helical region 3 (COL3).				axon guidance	collagen type IX		p.L474M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					TCGAGGGGAGCTGGGCCCCAA	0.711000													16	19					2.35188e-11	3.07389e-11	0.038395	1	0
RASGRP4	115727	broad.mit.edu	37	19	38905688	38905688	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:38905688C>G	ENST00000454404.2	-	9	1141	c.928G>C	c.(928-930)Gcg>Ccg	p.A310P	RASGRP4_ENST00000293062.9_Missense_Mutation_p.A247P|RASGRP4_ENST00000587753.1_Intron|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000587738.1_Missense_Mutation_p.A344P|RASGRP4_ENST00000586305.1_Missense_Mutation_p.A330P|RASGRP4_ENST00000433821.2_Intron	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	344	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity	p.A344P(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGAAACCCGCGCAGCCAGCC	0.672000													6	5					0	0	0.029380	0	0
KIF5A	3798	broad.mit.edu	37	12	57960909	57960909	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57960909G>T	ENST00000455537.2	+	7	776	c.501_splice	c.e7-1	p.G168_splice	KIF5A_ENST00000286452.5_Splice_Site_p.G79_splice	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	168	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.G168C(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TCCCCCACAGGGTTGTACTGA	0.383000													40	58					1.57945e-13	2.20508e-13	0.124865	1	0
BCL9	607	broad.mit.edu	37	1	147092256	147092256	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:147092256G>C	ENST00000234739.3	+	8	3035	c.2295G>C	c.(2293-2295)gtG>gtC	p.V765V		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	765	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.V765V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGAAGATGGTGCCACTGCCAT	0.592000			T	"""IGH@, IGL@"""	B-ALL								18	17					0	0	0.033300	0	0
RYR3	6263	broad.mit.edu	37	15	34130188	34130188	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:34130188G>A	ENST00000389232.4	+	89	12077	c.12007G>A	c.(12007-12009)Gaa>Aaa	p.E4003K	RYR3_ENST00000415757.3_Missense_Mutation_p.E3998K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4003					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E4002K(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAATCTTTCTGAACACATGCC	0.448000													56	61					0	0	0.139131	0	0
XRCC4	7518	broad.mit.edu	37	5	82491599	82491599	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:82491599G>T	ENST00000282268.3	+	4	501	c.326G>T	c.(325-327)gGt>gTt	p.G109V	XRCC4_ENST00000338635.6_Missense_Mutation_p.G109V|XRCC4_ENST00000396027.4_Missense_Mutation_p.G109V|XRCC4_ENST00000511817.1_Missense_Mutation_p.G109V|XRCC4_ENST00000509268.1_3'UTR	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	109					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	p.G109V(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTCAGACTTGGTTCCTTCAAC	0.343000								Non-homologous end-joining					21	28					1.55795e-14	2.20367e-14	0.062417	1	0
WARS2	10352	broad.mit.edu	37	1	119575683	119575683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:119575683C>A	ENST00000235521.4	-	6	960	c.934G>T	c.(934-936)Gag>Tag	p.E312*	WARS2_ENST00000369426.5_3'UTR|WARS2_ENST00000537870.1_Nonsense_Mutation_p.E218*	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	312					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.E312*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GCAAACTTCTCAATCACAGCA	0.517000													58	83					4.10029e-35	6.96887e-35	0.139131	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243579123	243579123	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:243579123A>G	ENST00000366541.3	+	14	1854	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.D536G|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.D434G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	579	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.D579C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCCCAGCATGACAAAACTGGT	0.522000													4	10					0	0	0.038395	0	0
IFNGR2	3460	broad.mit.edu	37	21	34793969	34793969	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:34793969C>T	ENST00000290219.6	+	3	1037	c.389C>T	c.(388-390)cCt>cTt	p.P130L	IFNGR2_ENST00000405436.1_Missense_Mutation_p.P51L|IFNGR2_ENST00000381995.1_Missense_Mutation_p.P149L	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	130					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity	p.P130L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTGACAATGCCTTGGTTTCAA	0.493000													38	73					0	0	0.104719	0	0
NDUFS3	4722	broad.mit.edu	37	11	47603679	47603679	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:47603679A>G	ENST00000263774.4	+	5	503	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	141					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding	p.I141V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CAACTCACGGATCCGTGTGAA	0.522000													5	78					0	0	0.021553	0	0
BEND2	139105	broad.mit.edu	37	X	18221854	18221854	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:18221854C>G	ENST00000380033.4	-	5	806	c.674G>C	c.(673-675)gGc>gCc	p.G225A	BEND2_ENST00000380030.3_Missense_Mutation_p.G225A	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	225								p.G225A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGGAAATGAGCCACCTTGTGC	0.453000													21	122					0	0	0.069288	0	0
HEG1	57493	broad.mit.edu	37	3	124746194	124746194	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:124746194C>A	ENST00000311127.4	-	3	835	c.768G>T	c.(766-768)tcG>tcT	p.S256S		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	256						extracellular region|integral to membrane	calcium ion binding	p.S256S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCTCCAAGCCGAAGTGGTGG	0.542000													12	40					0.00010058	0.000109492	0.093190	1	0
FOLH1	2346	broad.mit.edu	37	11	49204782	49204782	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:49204782C>A	ENST00000340334.7	-	8	1162	c.794G>T	c.(793-795)aGg>aTg	p.R265M	FOLH1_ENST00000343844.4_De_novo_Start_InFrame|FOLH1_ENST00000533034.1_Missense_Mutation_p.R265M|FOLH1_ENST00000356696.3_Missense_Mutation_p.R280M|FOLH1_ENST00000256999.2_Missense_Mutation_p.R280M	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	280					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.R280M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATTCCACGCCTATAAGCATA	0.343000													15	43					1.99824e-07	2.3349e-07	0.033300	1	0
HAPLN1	1404	broad.mit.edu	37	5	82937474	82937474	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:82937474G>T	ENST00000274341.4	-	5	1756	c.906C>A	c.(904-906)gaC>gaA	p.D302E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	302	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.D302_R303>ES(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CATCACAGCGGTCATATCCGA	0.552000													54	80					7.34454e-26	1.19176e-25	0.139131	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745436	37745436	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:37745436C>T	ENST00000539465.1	+	16	4000	c.3407C>T	c.(3406-3408)tCc>tTc	p.S1136F	FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1136F|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1136						cytoskeleton|cytosol|plasma membrane		p.S1136F(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCAGGTGACTCCCCGGGTGAT	0.438000													25	5					0	0	0.083992	0	0
NTM	50863	broad.mit.edu	37	11	132081940	132081940	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:132081940C>T	ENST00000374786.1	+	3	904	c.425C>T	c.(424-426)tCt>tTt	p.S142F	NTM_ENST00000374791.3_Missense_Mutation_p.S142F|NTM_ENST00000539799.1_Missense_Mutation_p.S142F|NTM_ENST00000427481.2_Missense_Mutation_p.S133F|NTM_ENST00000425719.2_Missense_Mutation_p.S142F|NTM_ENST00000374784.1_Missense_Mutation_p.S142F|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	142	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.S142F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GTAGAGATTTCTTCAGATATC	0.393000													14	19					0	0	0.119110	0	0
CTBP2	1488	broad.mit.edu	37	10	126715738	126715738	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:126715738C>T	ENST00000309035.6	-	1	721	c.591G>A	c.(589-591)agG>agA	p.R197R	CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	0					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	p.R197R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCGCCCCATACCTGGTGTCGG	0.647000													15	20					0	0	0.132662	0	0
DGKG	1608	broad.mit.edu	37	3	186015996	186015996	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:186015996T>A	ENST00000265022.3	-	4	706	c.167A>T	c.(166-168)aAg>aTg	p.K56M	DGKG_ENST00000382164.4_Missense_Mutation_p.K56M|DGKG_ENST00000344484.4_Missense_Mutation_p.K56M|DGKG_ENST00000544847.1_Missense_Mutation_p.K56M	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	56					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.K56M(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CATGAACAGCTTGAAGACATC	0.532000													11	66					0	0	0.069234	0	0
MUC16	94025	broad.mit.edu	37	19	9091090	9091090	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9091090G>T	ENST00000397910.4	-	1	928	c.725C>A	c.(724-726)cCt>cAt	p.P242H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	242	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P242H(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						GGTCCCTTTAGGTGATAGGTC	0.478000													38	5					1.42033e-22	2.22899e-22	0.069456	1	0
POLQ	10721	broad.mit.edu	37	3	121208549	121208549	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:121208549G>C	ENST00000264233.5	-	16	3357	c.3229C>G	c.(3229-3231)Ctt>Gtt	p.L1077V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1077					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.L1212V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTTCACAAAGACTAGGATTA	0.408000								DNA polymerases (catalytic subunits)					126	63					0	0	0.139131	0	0
OR14C36	127066	broad.mit.edu	37	1	248512680	248512680	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248512680C>A	ENST00000317861.1	+	1	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGTCTCTGCTCTGGGGGTAGG	0.483000													69	48					1.48005e-37	2.53554e-37	0.139131	1	0
SPTB	6710	broad.mit.edu	37	14	65289696	65289696	+	Silent	SNP	G	G	T	rs147811055		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:65289696G>T	ENST00000389722.3	-	1	170	c.117C>A	c.(115-117)ctC>ctA	p.L39L	SPTB_ENST00000389720.3_Silent_p.L39L|SPTB_ENST00000389721.5_Silent_p.L39L|SPTB_ENST00000542895.1_Silent_p.L39L|SPTB_ENST00000556626.1_Silent_p.L39L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	39	Actin-binding.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L39L(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTCTCAAAGAGCCTGGCTG	0.562000											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	9					2.35958e-20	3.56007e-20	0.111260	1	0
TDO2	6999	broad.mit.edu	37	4	156831336	156831336	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:156831336G>C	ENST00000536354.2	+	6	655	c.591G>C	c.(589-591)caG>caC	p.Q197H		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	197					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.Q197H(2)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AATCTGAGCAGGAAAAGACAC	0.323000													10	76					0	0	0.058154	0	0
FIG4	9896	broad.mit.edu	37	6	110086283	110086283	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:110086283G>A	ENST00000230124.3	+	14	1626	c.1502G>A	c.(1501-1503)gGa>gAa	p.G501E	FIG4_ENST00000441478.2_Missense_Mutation_p.G224E	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	501	SAC.				cell death	endosome membrane	protein binding	p.G501E(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTTATGGTGGGAAAATGTGCT	0.398000													42	81					0	0	0.098360	0	0
CLCA4	22802	broad.mit.edu	37	1	87040257	87040257	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:87040257C>A	ENST00000370563.3	+	10	1544	c.1502C>A	c.(1501-1503)gCc>gAc	p.A501D	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	501						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.A501D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATAGTAATGCCTGGATGAAC	0.373000													33	70					3.76114e-14	5.28526e-14	0.069456	1	0
FLNA	2316	broad.mit.edu	37	X	153582821	153582821	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:153582821C>G	ENST00000422373.1	-	32	5568	c.5320G>C	c.(5320-5322)Ggg>Cgg	p.G1774R	FLNA_ENST00000369850.3_Missense_Mutation_p.G1782R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1742R|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.G1774R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1782	Hinge 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G1782R(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACATCCAGCCCATTGACACCC	0.612000													12	20					0	0	0.119110	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821060	35821060	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:35821060C>A	ENST00000399989.1	+	2	1026	c.747C>A	c.(745-747)ctC>ctA	p.L249L	MAGEB16_ENST00000399992.1_Silent_p.L281L|MAGEB16_ENST00000399985.1_Silent_p.L249L|MAGEB16_ENST00000399988.1_Silent_p.L249L|MAGEB16_ENST00000399987.1_Silent_p.L249L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	249	MAGE.							p.L416L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCAGAATGCTCATCACCAAAG	0.502000													4	16					3.32936e-07	3.84845e-07	0.038395	1	0
IGSF3	3321	broad.mit.edu	37	1	117122485	117122485	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:117122485C>A	ENST00000369486.3	-	10	3628	c.2863G>T	c.(2863-2865)Gtg>Ttg	p.V955L	IGSF3_ENST00000369483.1_Missense_Mutation_p.V975L|IGSF3_ENST00000318837.6_Missense_Mutation_p.V975L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	955	Ig-like C2-type 8.					integral to membrane		p.V955L(1)|p.V975L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ACTGTGTCCACCTGCAGGGAA	0.502000													10	15					1.08611e-07	1.28304e-07	0.080935	1	0
EVC	2121	broad.mit.edu	37	4	5754652	5754652	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:5754652G>T	ENST00000382674.2	+	9	1372	c.1188G>T	c.(1186-1188)cgG>cgT	p.R396R	EVC_ENST00000264956.6_Silent_p.R396R|EVC_ENST00000509451.1_Silent_p.R396R			P57679	EVC_HUMAN	Ellis van Creveld syndrome	396					muscle organ development	integral to membrane		p.R396R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CCAGGTGCCGGCTGGCTGCCA	0.627000													20	19					2.94398e-08	3.55593e-08	0.043863	1	0
KMT2D	8085	broad.mit.edu	37	12	49445465	49445465	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:49445465C>A	ENST00000301067.7	-	10	2000	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E667_E668>D*(2)									AGGGAGATTCCTCAGGCGGTG	0.642000													26	37					8.24728e-16	1.20215e-15	0.099896	1	0
HEPHL1	341208	broad.mit.edu	37	11	93837701	93837701	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:93837701A>G	ENST00000315765.9	+	16	2698	c.2690A>G	c.(2689-2691)tAt>tGt	p.Y897C		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	897	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.Y901C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGATACGTATAGTGGTTTG	0.353000													26	13					0	0	0.125774	0	0
GPX5	2880	broad.mit.edu	37	6	28501899	28501899	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:28501899C>T	ENST00000412168.2	+	5	710	c.621C>T	c.(619-621)gtC>gtT	p.V207V	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	207					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.V207V(1)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TCAGCTCAGTCAAGACAGACA	0.507000													25	16					0	0	0.091800	0	0
F9	2158	broad.mit.edu	37	X	138642899	138642899	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138642899G>T	ENST00000218099.2	+	7	730		c.e7-1		F9_ENST00000394090.2_Splice_Site	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TGTTTTCACAGGTTGTTTTGA	0.338000													57	66					7.47603e-22	1.16054e-21	0.139131	1	0
PRG4	10216	broad.mit.edu	37	1	186276565	186276565	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:186276565A>G	ENST00000445192.2	+	7	1759	c.1714A>G	c.(1714-1716)Acc>Gcc	p.T572A	PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T572A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGCACCCACCACCCCCAAGAA	0.642000													3	57					0	0	0.029380	0	0
NRK	203447	broad.mit.edu	37	X	105167150	105167150	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:105167150T>A	ENST00000428173.2	+	18	2957	c.2654T>A	c.(2653-2655)gTa>gAa	p.V885E	NRK_ENST00000243300.9_Missense_Mutation_p.V884E			Q7Z2Y5	NRK_HUMAN	Nik related kinase	884							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.V885E(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCACCCCCTGTATACTTGACA	0.418000										HNSCC(51;0.14)			77	98					0	0	0.139131	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527428	26527428	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:26527428C>T	ENST00000456354.2	+	8	1162	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	365					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.P365P(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGAGGCCCCCTGTCGAACC	0.552000													27	41					0	0	0.099896	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151247409	151247409	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:151247409G>T	ENST00000367321.3	+	11	1508	c.1234G>T	c.(1234-1236)Gga>Tga	p.G412*		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	412	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	p.G412*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TCAAGCAGATGGAAAATACGT	0.393000													47	47					4.18559e-23	6.66594e-23	0.139131	1	0
PPFIA2	8499	broad.mit.edu	37	12	81751934	81751934	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:81751934G>A	ENST00000550584.2	-	15	1995	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	PPFIA2_ENST00000549396.1_Missense_Mutation_p.S567F|PPFIA2_ENST00000541570.2_Missense_Mutation_p.S134F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S493F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S567F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S567F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S549F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S414F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S549F|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S468F|PPFIA2_ENST00000541017.1_5'UTR	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	493								p.S567F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGTAATCAGACTGGCTGTC	0.418000													4	6					0	0	0.009096	0	0
WDR90	197335	broad.mit.edu	37	16	716315	716315	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:716315G>T	ENST00000549091.1	+	37	4803	c.4711G>T	c.(4711-4713)Gcc>Tcc	p.A1571S	WDR90_ENST00000315764.4_Missense_Mutation_p.A168S|WDR90_ENST00000293879.4_Missense_Mutation_p.A1569S|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000547944.1_Missense_Mutation_p.A168S	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1569								p.A1569S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCACCAGGGCGCCCCAATCTC	0.627000													25	26					2.44723e-14	3.45019e-14	0.099896	1	0
COL19A1	1310	broad.mit.edu	37	6	70916968	70916968	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:70916968G>A	ENST00000322773.4	+	51	3521	c.3419G>A	c.(3418-3420)gGt>gAt	p.G1140D	COL19A1_ENST00000393344.1_Missense_Mutation_p.G762D	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1140				G -> C (in Ref. 2; BAA23309).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.G1140D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CAGCGCACAGGTGGGAATTGA	0.542000													84	101					0	0	0.139131	0	0
NMUR1	10316	broad.mit.edu	37	2	232392962	232392962	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:232392962C>A	ENST00000305141.4	-	2	903	c.770G>T	c.(769-771)cGa>cTa	p.R257L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	p.R257L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCGCCGCAGTCGCAGCCCAAT	0.642000													4	14					0.00116845	0.00122844	0.021553	1	0
ZNF536	9745	broad.mit.edu	37	19	31039889	31039889	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:31039889G>T	ENST00000355537.3	+	4	3510	c.3363G>T	c.(3361-3363)atG>atT	p.M1121I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.M1121I(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCAGGCATGGTTGGCTCAG	0.562000													17	24					4.14922e-12	5.57551e-12	0.146539	1	0
GFRAL	389400	broad.mit.edu	37	6	55216094	55216094	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:55216094T>C	ENST00000340465.2	+	5	500	c.414T>C	c.(412-414)tgT>tgC	p.C138C		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	138						integral to membrane	receptor activity	p.C138C(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGAGGCATGTGTAGGGGATG	0.468000													75	108					0	0	0.139131	0	0
PRR23A	729627	broad.mit.edu	37	3	138724423	138724423	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:138724423G>T	ENST00000383163.2	-	1	687	c.688C>A	c.(688-690)Cct>Act	p.P230T		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	230	Pro-rich.							p.P230N(1)		endometrium(3)|kidney(1)|lung(7)	11						GGTTGGAGAGGTGAGCTGGGG	0.672000													4	10					0.00024832	0.000266278	0.009096	1	0
AHSG	197	broad.mit.edu	37	3	186338396	186338396	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:186338396C>G	ENST00000411641.2	+	7	1000	c.781C>G	c.(781-783)Cca>Gca	p.P261A	AHSG_ENST00000273784.5_Missense_Mutation_p.P262A			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	261					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.P261A(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		ACAGCCCCAACCAGAAGGTGC	0.612000													14	87					0	0	0.125774	0	0
CEP89	84902	broad.mit.edu	37	19	33439179	33439179	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:33439179T>C	ENST00000305768.4	-	5	676	c.588A>G	c.(586-588)caA>caG	p.Q196Q	CEP89_ENST00000590597.1_Silent_p.Q196Q	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	196						centrosome|spindle pole		p.Q196Q(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACCTTTTTGTTGTGTCCGCT	0.353000													19	17					0	0	0.049695	0	0
HK3	3101	broad.mit.edu	37	5	176314549	176314549	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:176314549C>A	ENST00000292432.5	-	11	1594	c.1503G>T	c.(1501-1503)caG>caT	p.Q501H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	501	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q501_A502>HS(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATCTGTGCCTGAACCGCAG	0.677000													18	30					4.96729e-08	5.9663e-08	0.049695	1	0
ARRDC5	645432	broad.mit.edu	37	19	4896732	4896732	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:4896732T>C	ENST00000381781.2	-	2	451	c.452A>G	c.(451-453)tAc>tGc	p.Y151C		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	151					signal transduction			p.Y151C(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AACCAATAAGTACATCCTCTT	0.483000													26	6					0	0	0.125774	0	0
PCLO	27445	broad.mit.edu	37	7	82579280	82579280	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:82579280G>T	ENST00000423517.2	-	6	10961	c.10624C>A	c.(10624-10626)Cga>Aga	p.R3542R	PCLO_ENST00000437081.1_Silent_p.R262R|PCLO_ENST00000333891.8_Silent_p.R3542R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3473					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3542R(2)|p.R3473R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATCCACTCGTGCCCGTATG	0.448000													19	26					6.49762e-13	8.89801e-13	0.038395	1	0
GABBR1	2550	broad.mit.edu	37	6	29595311	29595311	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:29595311C>A	ENST00000377034.4	-	6	944	c.609G>T	c.(607-609)agG>agT	p.R203S	GABBR1_ENST00000377012.4_Missense_Mutation_p.R86S|GABBR1_ENST00000355973.3_Missense_Mutation_p.R86S|GABBR1_ENST00000376977.3_Missense_Mutation_p.R203S|GABBR1_ENST00000377016.4_Missense_Mutation_p.R141S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	203					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R203S(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GCAGGATGTCCCTGCGGCTAT	0.677000													3	7					0.00909568	0.00942444	0.009096	1	0
PARVA	55742	broad.mit.edu	37	11	12518121	12518121	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:12518121A>G	ENST00000334956.8	+	5	980	c.637A>G	c.(637-639)Agg>Ggg	p.R213G	PARVA_ENST00000539723.1_Missense_Mutation_p.R173G|PARVA_ENST00000538608.1_Missense_Mutation_p.R120G|PARVA_ENST00000550549.1_Missense_Mutation_p.R173G	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	173					cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding	p.R173G(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		ACTTCCTCCCAGGAGCATCAA	0.493000													7	13					0	0	0.047766	0	0
MEIS1	4211	broad.mit.edu	37	2	66739408	66739408	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:66739408G>C	ENST00000488550.1	+	8	1169	c.870G>C	c.(868-870)tgG>tgC	p.W290C	MEIS1_ENST00000560281.2_Missense_Mutation_p.W290C|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000495021.2_Missense_Mutation_p.W225C|MEIS1_ENST00000398506.2_Missense_Mutation_p.W288C|MEIS1_ENST00000407092.2_Missense_Mutation_p.W290C|MEIS1_ENST00000272369.9_Missense_Mutation_p.W290C			O00470	MEIS1_HUMAN	Meis homeobox 1	290							sequence-specific DNA binding transcription factor activity	p.W290C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TGAGGGCGTGGCTGTTCCAGC	0.393000													11	17					0	0	0.105934	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243542029	243542029	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:243542029G>C	ENST00000366541.3	+	13	1598	c.1480G>C	c.(1480-1482)Gag>Cag	p.E494Q	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.E451Q|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.E349Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	494	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.E494Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TAAGGAAATAGAGAAATTGAG	0.388000													25	56					0	0	0.091800	0	0
FAT3	120114	broad.mit.edu	37	11	92088374	92088374	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:92088374G>T	ENST00000298047.6	+	1	3113	c.3096G>T	c.(3094-3096)gtG>gtT	p.V1032V	FAT3_ENST00000525166.1_Silent_p.V882V|FAT3_ENST00000409404.2_Silent_p.V1032V|FAT3_ENST00000541502.1_Silent_p.V1032V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1032	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1032V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAAGTGGTGGATGTCAATG	0.468000										TCGA Ovarian(4;0.039)			20	13					2.37509e-13	3.27336e-13	0.055883	1	0
GLUD2	2747	broad.mit.edu	37	X	120182428	120182428	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:120182428C>A	ENST00000328078.1	+	1	967	c.890C>A	c.(889-891)cCa>cAa	p.P297Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	297					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.P297Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAATGACACCAGGGTTTAGA	0.408000													76	106					1.76847e-28	2.94745e-28	0.139131	1	0
ZIC4	84107	broad.mit.edu	37	3	147108869	147108869	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:147108869T>C	ENST00000383075.3	-	4	1365	c.853A>G	c.(853-855)Atg>Gtg	p.M285V	ZIC4_ENST00000525172.2_Missense_Mutation_p.M335V|ZIC4_ENST00000491672.1_Missense_Mutation_p.M79V|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Missense_Mutation_p.M285V|ZIC4_ENST00000473123.1_Missense_Mutation_p.M285V|ZIC4_ENST00000425731.3_Missense_Mutation_p.M323V	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	285						nucleus	DNA binding|zinc ion binding	p.M285V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TGCACCTTCATGTGCTTACGC	0.637000													14	55					0	0	0.146539	0	0
COL21A1	81578	broad.mit.edu	37	6	55924964	55924964	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:55924964G>T	ENST00000244728.5	-	28	2857	c.2460C>A	c.(2458-2460)tgC>tgA	p.C820*	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.C820*|COL21A1_ENST00000370808.2_Intron|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.C817*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	820					cell adhesion	collagen|cytoplasm	structural molecule activity	p.C820*(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTGGGACAGGCAATGATCAC	0.493000													13	18					1.5842e-08	1.94076e-08	0.105934	1	0
PYDC2	152138	broad.mit.edu	37	3	191179085	191179085	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:191179085C>G	ENST00000518817.1	+	1	134	c.134C>G	c.(133-135)aCa>aGa	p.T45R		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	45	DAPIN.					cytoplasm|nucleus		p.T45R(1)		breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						GTCCCCCAGACAGAGGTAGAC	0.532000													69	42					0	0	0.139131	0	0
CEP170B	283638	broad.mit.edu	37	14	105350364	105350364	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:105350364G>C	ENST00000453495.1	+	9	1479	c.1251G>C	c.(1249-1251)aaG>aaC	p.K417N	CEP170B_ENST00000414716.3_Missense_Mutation_p.K416N|CEP170B_ENST00000418279.1_Missense_Mutation_p.K346N|CEP170B_ENST00000556508.1_Missense_Mutation_p.K346N					centrosomal protein 170B									p.K347N(1)|p.K416N(1)									CACCCCGAAAGAAGCGCTCCC	0.652000													4	1					0	0	0.014758	0	0
TP53	7157	broad.mit.edu	37	17	7579414	7579414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:7579414C>T	ENST00000420246.2	-	4	405	c.273G>A	c.(271-273)tgG>tgA	p.W91*	TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W91*(13)|p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P92fs*57(1)|p.W91fs*57(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGACAGGGGCCAGGAGGGGG	0.627000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	10					0	0	0.080422	0	0
HEPH	9843	broad.mit.edu	37	X	65415023	65415023	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:65415023C>A	ENST00000519389.1	+	9	1794	c.1615C>A	c.(1615-1617)Cat>Aat	p.H539N	HEPH_ENST00000374727.3_Missense_Mutation_p.H488N|HEPH_ENST00000441993.2_Missense_Mutation_p.H488N|HEPH_ENST00000336279.5_Missense_Mutation_p.H218N|HEPH_ENST00000343002.2_Missense_Mutation_p.H485N|HEPH_ENST00000419594.1_Missense_Mutation_p.H488N			Q9BQS7	HEPH_HUMAN	hephaestin	485	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.H485N(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGCAGCCCCATGGGGTCTT	0.522000													22	25					6.44725e-10	8.22646e-10	0.069288	1	0
AKAP3	10566	broad.mit.edu	37	12	4737626	4737626	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:4737626C>T	ENST00000545990.2	-	5	966	c.442G>A	c.(442-444)Gat>Aat	p.D148N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D148N	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	148					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.D148N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGAGCCATCGATCTTCTCA	0.453000													11	160					0	0	0.080935	0	0
KLHL26	55295	broad.mit.edu	37	19	18778558	18778558	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:18778558C>G	ENST00000300976.4	+	3	441	c.351C>G	c.(349-351)atC>atG	p.I117M	KLHL26_ENST00000599006.1_Missense_Mutation_p.I117M|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	117	BTB.							p.I117M(1)		breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGCGGCACATCATCGACTTCG	0.662000													25	23					0	0	0.099896	0	0
RIMS1	22999	broad.mit.edu	37	6	73102459	73102459	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:73102459G>T	ENST00000264839.7	+	27	4112	c.4112G>T	c.(4111-4113)gGa>gTa	p.G1371V	RIMS1_ENST00000401910.3_Missense_Mutation_p.G842V|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1172V|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1305V|RIMS1_ENST00000517827.1_Missense_Mutation_p.G656V|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1522V|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1305V|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1345V|RIMS1_ENST00000538414.1_Missense_Mutation_p.G328V|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1201V|RIMS1_ENST00000425662.2_Missense_Mutation_p.G590V|RIMS1_ENST00000523963.1_Missense_Mutation_p.G647V|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1121V|RIMS1_ENST00000414192.2_Missense_Mutation_p.G49V			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1522	Ser-rich.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.G1522V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTCTTGATGGATTGGGACCA	0.408000													30	52					4.65686e-17	6.83431e-17	0.064281	1	0
MARK4	57787	broad.mit.edu	37	19	45805710	45805710	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:45805710G>T	ENST00000262891.4	+	17	2332	c.2001G>T	c.(1999-2001)tcG>tcT	p.S667S	MARK4_ENST00000300843.4_3'UTR	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	667					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.S667S(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGACCAGCTCGCGCCCTCCTG	0.677000													75	83					7.25294e-45	1.26266e-44	0.139131	1	0
TFCP2L1	29842	broad.mit.edu	37	2	121999986	121999986	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:121999986G>T	ENST00000263707.5	-	7	814	c.717C>A	c.(715-717)gcC>gcA	p.A239A		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	239					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A239A(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCTTCTCTTGGGCAGTTCTTT	0.562000													51	110					1.83081e-24	2.93749e-24	0.139131	1	0
SYT4	6860	broad.mit.edu	37	18	40850395	40850395	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:40850395C>A	ENST00000255224.3	-	4	1557	c.1189G>T	c.(1189-1191)Gca>Tca	p.A397S	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.A379S	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	397						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	p.A397S(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GTTCCTTCTGCTGCTGCACCC	0.493000													86	118					5.01443e-46	8.76505e-46	0.139131	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													5	259					0	0	0.038147	0	0
WDR44	54521	broad.mit.edu	37	X	117570726	117570726	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:117570726G>C	ENST00000254029.3	+	14	2308	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	WDR44_ENST00000371825.3_Missense_Mutation_p.R638T|WDR44_ENST00000371822.5_Missense_Mutation_p.R613T	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	638						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		p.R638T(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATTTCTCGAAGAGAATGCCTT	0.328000													39	53					0	0	0.086207	0	0
ARMC12	221481	broad.mit.edu	37	6	35715159	35715159	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:35715159G>T	ENST00000373866.3	+	4	588	c.566G>T	c.(565-567)cGg>cTg	p.R189L	ARMC12_ENST00000373869.3_Missense_Mutation_p.R189L|ARMC12_ENST00000288065.2_Missense_Mutation_p.R216L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	189							binding	p.R216L(1)									CAGCTGCGACGGGTGATGCCT	0.592000													12	31					0.00010058	0.000109492	0.093190	1	0
SLC35E1	79939	broad.mit.edu	37	19	16664607	16664607	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:16664607G>A	ENST00000595753.1	-	6	1133	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	372					transport	integral to membrane		p.L228L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGGGGAAGAGGAGGCCGTTGT	0.587000													41	16					0	0	0.104719	0	0
GALNT6	11226	broad.mit.edu	37	12	51773084	51773084	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:51773084C>A	ENST00000543196.2	-	2	687	c.482G>T	c.(481-483)cGa>cTa	p.R161L	GALNT6_ENST00000356317.3_Missense_Mutation_p.R161L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	161					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R161L(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCAGGTGGTCGGGTGTCTGG	0.562000													10	32					5.50884e-06	6.25013e-06	0.093190	1	0
TSHZ2	128553	broad.mit.edu	37	20	51871355	51871355	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:51871355G>T	ENST00000371497.5	+	2	2245	c.1358G>T	c.(1357-1359)tGt>tTt	p.C453F	TSHZ2_ENST00000329613.6_Missense_Mutation_p.C450F|TSHZ2_ENST00000603338.2_Missense_Mutation_p.C450F	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	453					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C453F(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCATCAGATTGTACAGCCTCT	0.453000													50	88					2.9001e-28	4.81484e-28	0.139131	1	0
MMP16	4325	broad.mit.edu	37	8	89209482	89209482	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:89209482C>T	ENST00000286614.6	-	2	467	c.186G>A	c.(184-186)gtG>gtA	p.V62V	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	62					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.V62V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CAGAGCGCAGCACTGACATTC	0.438000													13	32					0	0	0.093190	0	0
ZADH2	284273	broad.mit.edu	37	18	72913607	72913607	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:72913607C>T	ENST00000322342.3	-	2	1187	c.898G>A	c.(898-900)Gta>Ata	p.V300I	ZADH2_ENST00000537114.2_Missense_Mutation_p.V177I	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	300						peroxisome	oxidoreductase activity|zinc ion binding	p.V300I(1)		endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		AAGCCCTGTACGCTGGCAGAT	0.493000													32	42					0	0	0.050027	0	0
IGSF22	283284	broad.mit.edu	37	11	18731191	18731191	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:18731191G>C	ENST00000513874.1	-	18	2880	c.2741C>G	c.(2740-2742)tCc>tGc	p.S914C	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	813								p.S813C(1)|p.S914C(1)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGAGTTGGAGGAATCAGATAC	0.572000													5	8					0	0	0.021553	0	0
COL11A1	1301	broad.mit.edu	37	1	103548481	103548481	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:103548481C>G	ENST00000358392.2	-	2	471	c.154G>C	c.(154-156)Gag>Cag	p.E52Q	COL11A1_ENST00000512756.1_Missense_Mutation_p.E52Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.E52Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.E52Q	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	52	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.E52Q(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GATATTCCCTCTGGAGAATTG	0.368000													35	42					0	0	0.050027	0	0
KLHL9	55958	broad.mit.edu	37	9	21333334	21333334	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:21333334A>G	ENST00000359039.4	-	1	2045	c.1525T>C	c.(1525-1527)Tat>Cat	p.Y509H	KLHL9_ENST00000537938.1_Missense_Mutation_p.Y441H			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	509					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		p.Y509H(1)		endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACATCATCATAATCACTTGTT	0.453000													167	32					0	0	0.139131	0	0
OR10K2	391107	broad.mit.edu	37	1	158390049	158390049	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:158390049C>A	ENST00000314902.2	-	1	607	c.608G>T	c.(607-609)tGt>tTt	p.C203F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C203F(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GACCAATGTACAGAGCATGAA	0.453000													37	73					1.26612e-14	1.80275e-14	0.059317	1	0
IRAK3	11213	broad.mit.edu	37	12	66638982	66638982	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:66638982C>T	ENST00000261233.4	+	11	1675	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L	IRAK3_ENST00000457197.2_Silent_p.L357L	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	418	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.L418L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTGCCAAGCTCTTCTGTTTGG	0.463000													53	59					0	0	0.139131	0	0
GAB4	128954	broad.mit.edu	37	22	17488963	17488963	+	Silent	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:17488963T>G	ENST00000400588.1	-	1	149	c.42A>C	c.(40-42)ccA>ccC	p.P14P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	14								p.P14P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCGGGTCAGGTGGGCACAGCT	0.682000													8	4					0	0	0.058154	0	0
ATG4D	84971	broad.mit.edu	37	19	10655478	10655478	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:10655478G>T	ENST00000309469.4	+	2	428	c.255G>T	c.(253-255)cgG>cgT	p.R85R		NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	85					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	p.R85R(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TTAAAAGCCGGACCAGCTTTA	0.617000													31	14					2.08457e-15	2.99787e-15	0.045705	1	0
CD48	962	broad.mit.edu	37	1	160651121	160651121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:160651121C>A	ENST00000368046.3	-	3	610	c.523G>T	c.(523-525)Gag>Tag	p.E175*	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	175	Ig-like C2-type 2.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.E175*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCTGGAGCTCCTTTGGGAAG	0.463000													69	145					1.08321e-29	1.81945e-29	0.139131	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946355	16946355	+	RNA	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:16946355C>G	ENST00000412962.1	-	0	1164																											GCTTCTCGCTCTCGGCCAGGA	0.657000													2	7					0	0	0.115264	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350399	36350399	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:36350399G>T	ENST00000360202.5	+	5	737	c.539G>T	c.(538-540)gGg>gTg	p.G180V	KIRREL2_ENST00000347900.6_Missense_Mutation_p.G130V|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G180V|KIRREL2_ENST00000262625.7_Missense_Mutation_p.G180V|KIRREL2_ENST00000586102.2_Missense_Mutation_p.G180V|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	180	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane		p.G180V(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGAAGGAAGGGACCCCTGGG	0.562000													19	28					1.64113e-05	1.84735e-05	0.055883	1	0
BCORL1	63035	broad.mit.edu	37	X	129148566	129148566	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:129148566G>C	ENST00000540052.1	+	3	1862	c.1818G>C	c.(1816-1818)caG>caC	p.Q606H	BCORL1_ENST00000303743.5_Missense_Mutation_p.Q606H|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q606H|BCORL1_ENST00000359304.2_Missense_Mutation_p.Q606H	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	606	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q606H(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCGCCACAGCTGGAACGAG	0.602000													17	33					0	0	0.043863	0	0
ARID2	196528	broad.mit.edu	37	12	46230616	46230616	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:46230616A>G	ENST00000334344.6	+	8	1037	c.865A>G	c.(865-867)Att>Gtt	p.I289V	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.I140V	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	289					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.I289V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTACTTCAGATTGCAGTGAT	0.418000			"""N, S, F"""		hepatocellular carcinoma								17	126					0	0	0.146539	0	0
TRHDE	29953	broad.mit.edu	37	12	72936110	72936110	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:72936110C>A	ENST00000261180.4	+	7	1723	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	543					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.H543N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTTATGGGCCATTCAGTTTT	0.308000													18	59					2.54575e-18	3.77473e-18	0.055883	1	0
USH2A	7399	broad.mit.edu	37	1	216219863	216219863	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:216219863T>C	ENST00000366943.2	-	32	6621	c.6235A>G	c.(6235-6237)Aaa>Gaa	p.K2079E	USH2A_ENST00000307340.3_Missense_Mutation_p.K2079E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2079	Fibronectin type-III 7.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.K2079E(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTGCCTTTTTGGGTGGGTTC	0.453000										HNSCC(13;0.011)			55	22					0	0	0.139131	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924711	109924711	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:109924711C>A	ENST00000218054.4	-	10	1345	c.1150_splice	c.e10+1	p.K383_splice	CHRDL1_ENST00000394797.4_Splice_Site_p.K383_splice|CHRDL1_ENST00000444321.2_Splice_Site_p.K384_splice|CHRDL1_ENST00000372042.1_Splice_Site_p.K385_splice|CHRDL1_ENST00000482160.1_Splice_Site_p.K305_splice|CHRDL1_ENST00000372045.1_Splice_Site_p.K377_splice|CHRDL1_ENST00000434224.1_Splice_Site_p.K304_splice	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	377					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.K383N(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CTTGCTCACCCTTTCGAATAG	0.443000													51	73					7.77372e-23	1.22893e-22	0.139131	1	0
POTEG	404785	broad.mit.edu	37	14	19553741	19553741	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:19553741T>A	ENST00000409832.3	+	1	377	c.325T>A	c.(325-327)Tgc>Agc	p.C109S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	109								p.C109S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTCCCCTGCTGCAGGGGGAG	0.592000													44	250					0	0	0.139131	0	0
BRD4	23476	broad.mit.edu	37	19	15367954	15367954	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:15367954G>T	ENST00000263377.2	-	8	1593	c.1372C>A	c.(1372-1374)Ccg>Acg	p.P458T	BRD4_ENST00000360016.5_Missense_Mutation_p.P458T|BRD4_ENST00000602230.1_5'UTR|BRD4_ENST00000371835.4_Missense_Mutation_p.P458T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	458					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	p.P458T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGCTCGTCCGGCATCTTGGCA	0.652000			T	C15orf55	lethal midline carcinoma of young people								7	1					1.26484e-09	1.59966e-09	0.038147	1	0
COL14A1	7373	broad.mit.edu	37	8	121262859	121262859	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:121262859C>G	ENST00000297848.3	+	22	2876	c.2606C>G	c.(2605-2607)cCt>cGt	p.P869R	COL14A1_ENST00000309791.4_Missense_Mutation_p.P869R|COL14A1_ENST00000247781.3_Missense_Mutation_p.P774R|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	869	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.P869R(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTTTAGTTCCTGGTCCAACA	0.383000													34	55					0	0	0.054565	0	0
TTN	7273	broad.mit.edu	37	2	179403333	179403333	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179403333C>T	ENST00000589042.1	-	354	99447	c.99223G>A	c.(99223-99225)Gct>Act	p.A33075T	TTN_ENST00000591111.1_Missense_Mutation_p.A31434T|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A24202T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A24010T|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A24135T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A30507T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31434							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A24202T(1)|p.A24010T(1)|p.A30505T(1)|p.A30507T(1)|p.A24135T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTCTCAGCAAAAACCCTG	0.418000													61	50					0	0	0.139131	0	0
CRMP1	1400	broad.mit.edu	37	4	5837732	5837732	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:5837732C>T	ENST00000324989.7	-	11	1621	c.1533G>A	c.(1531-1533)agG>agA	p.R511R	CRMP1_ENST00000397890.2_Silent_p.R397R|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.R395R	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	397					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.R511R(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TCCGCCCTTTCCTTGGGTACA	0.532000													44	77					0	0	0.124865	0	0
GPKOW	27238	broad.mit.edu	37	X	48972658	48972658	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48972658G>C	ENST00000156109.5	-	7	1011	c.933C>G	c.(931-933)gcC>gcG	p.A311A		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	311						nucleus	nucleic acid binding	p.A311A(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						TCCGTGATGAGGCAGTTCCGT	0.537000													23	40					0	0	0.091800	0	0
C1orf172	126695	broad.mit.edu	37	1	27278144	27278144	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:27278144A>G	ENST00000320567.5	-	2	816	c.728T>C	c.(727-729)aTc>aCc	p.I243T		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	243								p.I243T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCTTGAAGATGAGCACATC	0.537000													20	13					0	0	0.055883	0	0
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Splice_Site	SNP	C	C	T	rs7778384	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004_splice	c.e42+1	p.R1668_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592000													4	31					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9049765	9049765	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9049765T>C	ENST00000397910.4	-	5	32069	c.31866A>G	c.(31864-31866)ttA>ttG	p.L10622L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10624	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L10622L(1)|p.L6255L(1)		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						ATACAGTGTCTAATTCACTGT	0.483000													48	14					0	0	0.131918	0	0
ZNF99	7652	broad.mit.edu	37	19	22942366	22942366	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:22942366T>A	ENST00000397104.3	-	4	407	c.408A>T	c.(406-408)aaA>aaT	p.K136N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K115N					zinc finger protein 99									p.K136N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCACAATCTTTTCTTAATC	0.338000													23	40					0	0	0.091800	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857220	9857220	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:9857220T>A	ENST00000396573.2	-	14	4490	c.4181A>T	c.(4180-4182)cAg>cTg	p.Q1394L	GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q1394L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1280W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1123W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1280W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q1394L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1394					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.Q1394L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCACCGCCTGGGATGGCAA	0.542000													21	32					0	0	0.062417	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	93					0	0	0.029380	0	0
MEDAG	84935	broad.mit.edu	37	13	31495960	31495960	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:31495960G>T	ENST00000380482.4	+	4	1089	c.764G>T	c.(763-765)cGa>cTa	p.R255L	TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000590344.1_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000592950.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis									p.R255L(1)									TTCTCTGACCGAAAGTTCAGT	0.363000													29	6					1.04266e-39	1.79338e-39	0.074837	1	0
VIM	7431	broad.mit.edu	37	10	17271973	17271973	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:17271973C>T	ENST00000544301.1	+	2	965	c.552C>T	c.(550-552)cgC>cgT	p.R184R	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Silent_p.R184R|VIM_ENST00000485947.1_3'UTR	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	184	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.R184R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACATCATGCGCCTCCGGGAGA	0.697000													7	3					0	0	0.029380	0	0
ADAM18	8749	broad.mit.edu	37	8	39587426	39587426	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:39587426C>A	ENST00000265707.5	+	20	2232	c.2187C>A	c.(2185-2187)tcC>tcA	p.S729S	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Silent_p.S143S|ADAM18_ENST00000379866.1_Silent_p.S705S	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	729					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.S729S(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTAATTCATCCGTTGTATCAG	0.308000													418	55					4.14718e-181	7.36896e-181	0.139131	1	0
GRM4	2914	broad.mit.edu	37	6	34003675	34003675	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:34003675G>A	ENST00000374181.3	-	8	2381	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	GRM4_ENST00000544773.1_Missense_Mutation_p.R569C|GRM4_ENST00000455714.2_Missense_Mutation_p.R598C|GRM4_ENST00000538487.1_Missense_Mutation_p.R738C|GRM4_ENST00000374177.3_Missense_Mutation_p.R622C|GRM4_ENST00000535756.1_Missense_Mutation_p.R605C|GRM4_ENST00000545715.1_Missense_Mutation_p.R430C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	738					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R738C(2)|p.R622C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTGGCGAAGCGGGGGTCGAGT	0.622000													18	29					0	0	0.043863	0	0
CSMD2	114784	broad.mit.edu	37	1	34276420	34276420	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:34276420G>C	ENST00000373381.4	-	10	1546	c.1370C>G	c.(1369-1371)aCc>aGc	p.T457S	CSMD2_ENST00000338325.1_Missense_Mutation_p.T14S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	417	CUB 3.					integral to membrane|plasma membrane	protein binding	p.T417S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGGGGGAGGTGATGATGCC	0.542000													40	58					0	0	0.124865	0	0
CEP192	55125	broad.mit.edu	37	18	13059303	13059303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:13059303G>A	ENST00000506447.1	+	21	4560	c.4480G>A	c.(4480-4482)Gtt>Att	p.V1494I	CEP192_ENST00000325971.8_Missense_Mutation_p.V898I|CEP192_ENST00000430049.2_Missense_Mutation_p.V1019I	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1089								p.V898I(1)|p.V1494I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAGAGTCCTGTTATTGAGGT	0.428000													4	87					0	0	0.009096	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932338	41932338	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:41932338G>T	ENST00000321702.2	-	3	799	c.346C>A	c.(346-348)Cgc>Agc	p.R116S	B3GNT8_ENST00000601379.1_5'UTR	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	116					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	p.R116S(1)		cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AAGAAGCGGCGGAGGTCCTTG	0.667000													13	20					0.00244969	0.00256294	0.119110	1	0
TMEM185A	84548	broad.mit.edu	37	X	148693003	148693003	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:148693003C>A	ENST00000316916.8	-	2	486	c.182G>T	c.(181-183)gGa>gTa	p.G61V	TMEM185A_ENST00000536359.1_Intron|TMEM185A_ENST00000507237.1_Missense_Mutation_p.G61V	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	61						integral to membrane		p.G61V(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GACTCCAGTTCCAACTGAGGC	0.458000													126	215					2.87069e-51	5.03835e-51	0.139131	1	0
TBC1D19	55296	broad.mit.edu	37	4	26744202	26744202	+	Nonsense_Mutation	SNP	C	C	T	rs141345574		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:26744202C>T	ENST00000264866.4	+	18	1578	c.1300C>T	c.(1300-1302)Cga>Tga	p.R434*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.R369*	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	434	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.R434*(3)		breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATCATCTACGAGAAATTGG	0.373000													41	45					0	0	0.139131	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478164	106478164	+	RNA	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:106478164G>T	ENST00000390596.2	-	0	357																											TCAGCTTCAGGGAGAACTGGT	0.562000													4	46					0.014758	0.0152181	0.014758	1	0
PTPRCAP	5790	broad.mit.edu	37	11	67203241	67203241	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:67203241G>T	ENST00000326294.3	-	2	1031	c.584C>A	c.(583-585)gCa>gAa	p.A195E		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	195					defense response	integral to membrane|plasma membrane		p.A195E(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCCCCAGCTGCCCTGGCGCT	0.687000													10	10					9.70103e-10	1.23415e-09	0.069234	1	0
USP21	27005	broad.mit.edu	37	1	161132420	161132420	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:161132420T>C	ENST00000368002.3	+	6	1174	c.797T>C	c.(796-798)aTt>aCt	p.I266T	USP21_ENST00000487163.1_3'UTR|USP21_ENST00000289865.8_Missense_Mutation_p.I266T|USP21_ENST00000368001.1_Missense_Mutation_p.I266T	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	266					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I266T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCAGATGTGATTGGTGCCCTC	0.507000													37	19					0	0	0.074837	0	0
ABCD1	215	broad.mit.edu	37	X	152991456	152991456	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152991456C>T	ENST00000218104.3	+	1	1134	c.735C>T	c.(733-735)gcC>gcT	p.A245A	ABCD1_ENST00000370129.4_Silent_p.A60A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	245	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.A245A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCGGCCATCGCCGGCC	0.701000													16	11					0	0	0.132662	0	0
SEC62	7095	broad.mit.edu	37	3	169710594	169710594	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:169710594A>C	ENST00000337002.4	+	8	1001	c.943A>C	c.(943-945)Agt>Cgt	p.S315R	SEC62_ENST00000480708.1_Missense_Mutation_p.S315R	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	315					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	p.S315R(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						AAAGTCAGACAGTGAGAAAAA	0.463000													20	47					0	0	0.049695	0	0
ZNF215	7762	broad.mit.edu	37	11	6977310	6977310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:6977310C>T	ENST00000278319.5	+	7	1690	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R368*|ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	368					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R368*(1)|p.R368G(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TACAGATATTCGACACCAAAA	0.333000													22	24					0	0	0.062417	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158550	50158550	+	Silent	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:50158550T>A	ENST00000284509.6	-	26	3300	c.3159A>T	c.(3157-3159)ccA>ccT	p.P1053P	ATP8B4_ENST00000559829.1_Silent_p.P1053P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1053					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P1053P(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACCAACAAATGGAAACTGGT	0.388000													25	52					0	0	0.091800	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243579122	243579122	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:243579122G>T	ENST00000366541.3	+	14	1853	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.D536Y|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.D434Y	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	579	Gln-rich.|Mediates interaction with OFD1.|Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.D579C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGCCCAGCATGACAAAACTGG	0.522000													5	11					2.94398e-08	3.55593e-08	0.043863	1	0
MCF2	4168	broad.mit.edu	37	X	138689898	138689898	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138689898C>A	ENST00000520602.1	-	15	1907	c.1622G>T	c.(1621-1623)gGt>gTt	p.G541V	MCF2_ENST00000519895.1_Missense_Mutation_p.G557V|MCF2_ENST00000338585.6_Missense_Mutation_p.G497V|MCF2_ENST00000370576.4_Missense_Mutation_p.G481V|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000414978.1_Missense_Mutation_p.G541V|MCF2_ENST00000370573.4_Missense_Mutation_p.G481V|MCF2_ENST00000370578.4_Missense_Mutation_p.G626V|MCF2_ENST00000536274.1_Missense_Mutation_p.G442V			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	481	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.G481V(3)|p.G557V(2)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGAGGATGGACCAGAACTTCT	0.353000													27	44					3.90053e-15	5.57218e-15	0.050027	1	0
GRIK1	2897	broad.mit.edu	37	21	31066378	31066378	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:31066378C>A	ENST00000399914.1	-	2	644	c.123G>T	c.(121-123)ggG>ggT	p.G41G	GRIK1_ENST00000389125.3_Silent_p.G41G|GRIK1_ENST00000399907.1_Silent_p.G41G|GRIK1_ENST00000535441.1_Silent_p.G41G|GRIK1_ENST00000399909.1_Silent_p.G41G|GRIK1_ENST00000399913.1_Silent_p.G41G|GRIK1_ENST00000327783.4_Silent_p.G41G|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000309434.7_Silent_p.G41G|GRIK1_ENST00000389124.2_Silent_p.G41G			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	41					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.G41G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TTTCAAAAATCCCTCCTGCAG	0.378000													25	31					9.57634e-11	1.23288e-10	0.083992	1	0
GABRA5	2558	broad.mit.edu	37	15	27159949	27159949	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:27159949G>T	ENST00000335625.5	+	7	1385		c.e7-1		GABRA5_ENST00000400081.3_Splice_Site|GABRA5_ENST00000557449.1_Splice_Site|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Splice_Site	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTTCAGCTTGACCATC	0.448000													11	15					2.27111e-07	2.6394e-07	0.093190	1	0
SLC9A9	285195	broad.mit.edu	37	3	143214238	143214238	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:143214238C>A	ENST00000316549.6	-	10	1350	c.1142G>T	c.(1141-1143)gGc>gTc	p.G381V		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	381					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G381V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CAGTGCCAGGCCCATGTAACA	0.353000													38	108					2.47872e-24	3.96227e-24	0.117977	1	0
OR51F1	256892	broad.mit.edu	37	11	4790455	4790455	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:4790455G>A	ENST00000380383.1	-	1	713	c.714C>T	c.(712-714)gcC>gcT	p.A238A	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Silent_p.A231A|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	231						integral to membrane	olfactory receptor activity	p.A231A(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCAGGGGAGGCAATTCTGA	0.458000													48	54					0	0	0.139131	0	0
ZNF883	169834	broad.mit.edu	37	9	115759674	115759674	+	RNA	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:115759674C>T	ENST00000427548.1	-	0	2139							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGGTTTCACACAAGAATGAAT	0.388000													6	136					0	0	0.047766	0	0
ZNF418	147686	broad.mit.edu	37	19	58438312	58438312	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:58438312G>A	ENST00000396147.1	-	4	1528	c.1237C>T	c.(1237-1239)Ctt>Ttt	p.L413F	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.L328F|ZNF418_ENST00000425570.3_Missense_Mutation_p.L434F|ZNF418_ENST00000595830.1_Missense_Mutation_p.L413F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L413F(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGGTTCCTAAGGTGTCCCTTT	0.463000													40	112					0	0	0.117977	0	0
HSD17B13	345275	broad.mit.edu	37	4	88239557	88239557	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:88239557C>T	ENST00000328546.4	-	2	306	c.242G>A	c.(241-243)cGa>cAa	p.R81Q	HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	81						extracellular region	binding|oxidoreductase activity	p.R81Q(1)		endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GCCTAGTTTTCGGCACTCAGC	0.443000													3	55					0	0	0.115264	0	0
SFPQ	6421	broad.mit.edu	37	1	35652649	35652649	+	Missense_Mutation	SNP	C	C	A	rs144271953	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:35652649C>A	ENST00000357214.5	-	9	2037	c.1939G>T	c.(1939-1941)Ggc>Tgc	p.G647C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	647					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	p.G647C(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GGTGGAACGCCAGGATTAGCT	0.443000			T	TFE3	papillary renal cell								32	56					1.74807e-11	2.29868e-11	0.045705	1	0
SLC30A10	55532	broad.mit.edu	37	1	220100417	220100417	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:220100417T>C	ENST00000366926.3	-	2	832	c.671A>G	c.(670-672)gAa>gGa	p.E224G	SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	224					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	p.E224G(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CATCATGTCTTCTGGCTCATT	0.378000													63	43					0	0	0.139131	0	0
PREX1	57580	broad.mit.edu	37	20	47256395	47256395	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:47256395C>A	ENST00000396220.1	-	30	3835	c.3813G>T	c.(3811-3813)cgG>cgT	p.R1271R	PREX1_ENST00000371941.3_Silent_p.R1271R			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1271					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R1271R(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATCAGGCTCCGGCCACGGA	0.557000													72	65					3.41413e-29	5.71236e-29	0.139131	1	0
TRIP12	9320	broad.mit.edu	37	2	230678748	230678748	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:230678748C>A	ENST00000283943.5	-	12	1859		c.e12-1		TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.?(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCAAACCACCCTAAAATATAG	0.348000													18	19					3.51602e-12	4.75436e-12	0.049695	1	0
LEPR	3953	broad.mit.edu	37	1	66038102	66038102	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:66038102A>T	ENST00000349533.6	+	5	649	c.464A>T	c.(463-465)tAt>tTt	p.Y155F	LEPR_ENST00000371058.1_Missense_Mutation_p.Y155F|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.Y155F|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.Y155F|LEPR_ENST00000371060.3_Missense_Mutation_p.Y155F	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	155					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.Y155F(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TTCAGGAATTATAACTATAAG	0.294000													13	17					0	0	0.105934	0	0
OXR1	55074	broad.mit.edu	37	8	107752609	107752609	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:107752609A>G	ENST00000445937.1	+	13	2382	c.2121A>G	c.(2119-2121)ccA>ccG	p.P707P	OXR1_ENST00000449762.2_Silent_p.P77P|OXR1_ENST00000452423.2_Silent_p.P155P|OXR1_ENST00000312046.6_Silent_p.P700P|OXR1_ENST00000442977.2_Silent_p.P735P|OXR1_ENST00000521592.1_5'UTR|OXR1_ENST00000517566.2_Silent_p.P734P|OXR1_ENST00000297447.6_Silent_p.P104P|OXR1_ENST00000531443.1_Silent_p.P707P	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	735					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		p.P735P(1)|p.P619P(1)|p.P104P(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			TTGGCTATCCATGGACTCTTG	0.368000													47	75					0	0	0.139131	0	0
OR2D3	120775	broad.mit.edu	37	11	6942637	6942637	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:6942637C>A	ENST00000317834.3	+	1	433	c.405C>A	c.(403-405)tcC>tcA	p.S135S		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S135S(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAGTGATGTCCTATGACCGGT	0.502000													29	75					7.01153e-11	9.05393e-11	0.125774	1	0
DNMT3A	1788	broad.mit.edu	37	2	25470989	25470989	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:25470989C>T	ENST00000264709.3	-	7	1109	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	DNMT3A_ENST00000321117.5_Missense_Mutation_p.V258M|DNMT3A_ENST00000402667.1_Missense_Mutation_p.V35M|DNMT3A_ENST00000380746.4_Missense_Mutation_p.V69M	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	258	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.V258M(1)|p.V69M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGGTAGCCACAGTGGGGGAT	0.637000			"""Mis, F, N, S"""		AML								30	43					0	0	0.050027	0	0
VGLL1	51442	broad.mit.edu	37	X	135631064	135631064	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:135631064C>T	ENST00000370634.3	+	3	701	c.531C>T	c.(529-531)tgC>tgT	p.C177C		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.C177C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					AAGACAGATGCCTAGCCCGTC	0.607000													6	133					0	0	0.029380	0	0
OR2M2	391194	broad.mit.edu	37	1	248343519	248343519	+	Missense_Mutation	SNP	G	G	A	rs143926960		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248343519G>A	ENST00000359682.2	+	1	232	c.232G>A	c.(232-234)Gta>Ata	p.V78I		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V78I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCACCACCGTACCCAAGAT	0.507000													25	389					0	0	0.116897	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973708	29973708	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:29973708A>G	ENST00000378993.1	+	11	2535	c.1862A>G	c.(1861-1863)cAg>cGg	p.Q621R	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q621R	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	621	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.Q621R(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAAATGCGTCAGAAACACTAC	0.527000													7	12					0	0	0.029380	0	0
FLNA	2316	broad.mit.edu	37	X	153596271	153596271	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:153596271G>T	ENST00000422373.1	-	3	809	c.561C>A	c.(559-561)aaC>aaA	p.N187K	FLNA_ENST00000369850.3_Missense_Mutation_p.N187K|FLNA_ENST00000344736.4_Missense_Mutation_p.N187K|FLNA_ENST00000360319.4_Missense_Mutation_p.N187K	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	187	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.N187K(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGGCTGAAGTTGGTGATGG	0.687000													24	36					1.10923e-09	1.40699e-09	0.076483	1	0
PTH1R	5745	broad.mit.edu	37	3	46944143	46944143	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:46944143T>C	ENST00000449590.1	+	14	1542	c.1339T>C	c.(1339-1341)Ttc>Ctc	p.F447L	PTH1R_ENST00000430002.2_Missense_Mutation_p.F447L|PTH1R_ENST00000418619.1_Missense_Mutation_p.F447L|PTH1R_ENST00000313049.5_Missense_Mutation_p.F447L	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	447						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	p.F447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						TGAGATGCTCTTCAACTCCTT	0.602000													20	3					0	0	0.043863	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209182591	209182591	+	Splice_Site	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:209182591A>T	ENST00000264380.4	+	16	2166	c.2007_splice	c.e16-1	p.I670_splice		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	670					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.I670F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTTCCATTAGATCCCAGGTGG	0.308000													25	95					0	0	0.083992	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763422	77763422	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:77763422G>T	ENST00000521891.2	+	10	4713	c.4265G>T	c.(4264-4266)cGg>cTg	p.R1422L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1396L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1377L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1377L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1377						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1422L(1)|p.R1422Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CATGCAATTCGGGCTGCGACA	0.458000										HNSCC(33;0.089)			11	10					3.86212e-05	4.28018e-05	0.069234	1	0
USP29	57663	broad.mit.edu	37	19	57640629	57640629	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:57640629A>G	ENST00000254181.4	+	4	1040	c.586A>G	c.(586-588)Aag>Gag	p.K196E	USP29_ENST00000598197.1_Missense_Mutation_p.K196E	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	196					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K196E(1)|p.K196*(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAGAAATATAAGACAGATTC	0.363000													48	78					0	0	0.139131	0	0
HOOK3	84376	broad.mit.edu	37	8	42865485	42865485	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:42865485G>C	ENST00000307602.4	+	19	1976	c.1776G>C	c.(1774-1776)aaG>aaC	p.K592N	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	592	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.K592N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CTTTACGAAAGAAAGAGGAAG	0.279000			T	RET	papillary thyroid								5	44					0	0	0.021553	0	0
MSTO1	55154	broad.mit.edu	37	1	155717352	155717352	+	Splice_Site	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:155717352A>C	ENST00000452804.2	+	7	621		c.e7-1		MSTO1_ENST00000538143.1_Splice_Site			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator						mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		p.?(1)		breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					TACTTGTGGCAGGGAAGCAGG	0.547000													5	25					0	0	0.038147	0	0
OR2V2	285659	broad.mit.edu	37	5	180581967	180581967	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:180581967T>A	ENST00000328275.1	+	1	25	c.25T>A	c.(25-27)Tac>Aac	p.Y9N		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y9N(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACCAGTCCTACACAGATGG	0.507000													46	58					0	0	0.139131	0	0
ATP2B3	492	broad.mit.edu	37	X	152825273	152825273	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152825273C>A	ENST00000370186.1	+	16	2996	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P	ATP2B3_ENST00000263519.4_Silent_p.P904P|ATP2B3_ENST00000349466.2_Silent_p.P904P|ATP2B3_ENST00000393842.1_Silent_p.P890P|ATP2B3_ENST00000359149.3_Silent_p.P904P|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Silent_p.P890P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	904					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.P904P(3)|p.P890P(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGCCACCCACAGAGTCGC	0.602000													24	22					1.22574e-08	1.51022e-08	0.069288	1	0
PODN	127435	broad.mit.edu	37	1	53544461	53544461	+	Missense_Mutation	SNP	C	C	T	rs145236540		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:53544461C>T	ENST00000371500.3	+	10	1707	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	PODN_ENST00000395871.2_Missense_Mutation_p.R333C|PODN_ENST00000312553.5_Missense_Mutation_p.R475C|RP11-334A14.5_ENST00000447867.1_RNA	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	427					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	p.R475C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGACGCCTTCCGCAAGCTGCG	0.642000													31	23					0	0	0.144211	0	0
NPAP1	23742	broad.mit.edu	37	15	24921226	24921226	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:24921226C>A	ENST00000329468.2	+	1	686	c.212C>A	c.(211-213)cCg>cAg	p.P71Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P71Q(1)									CCTAAGAGGCCGTGTCCTCTC	0.701000													8	16					0.00621372	0.00646949	0.058154	1	0
ZNF592	9640	broad.mit.edu	37	15	85325992	85325992	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:85325992C>T	ENST00000299927.3	+	1	108	c.86C>T	c.(85-87)gCc>gTc	p.A29V	ZNF592_ENST00000560079.2_Missense_Mutation_p.A29V			Q92610	ZN592_HUMAN	zinc finger protein 592	29					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A29V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCAAGGAGGCCATCCAGACA	0.537000													25	64					0	0	0.099896	0	0
OR1J4	26219	broad.mit.edu	37	9	125281945	125281945	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:125281945C>A	ENST00000340750.1	+	1	526	c.526C>A	c.(526-528)Cat>Aat	p.H176N		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H176N(1)		large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCATCCCCCATTTCTTCTG	0.507000													35	13					4.34311e-12	5.7998e-12	0.059317	1	0
SIM1	6492	broad.mit.edu	37	6	100838768	100838768	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:100838768G>C	ENST00000369208.3	-	12	2552	c.1770C>G	c.(1768-1770)gaC>gaG	p.D590E	SIM1_ENST00000262901.4_Missense_Mutation_p.D590E			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	590	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D590E(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAGCCAGTTGGTCTGAGGGGG	0.473000													39	25					0	0	0.074837	0	0
CHM	1121	broad.mit.edu	37	X	85213879	85213879	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:85213879C>A	ENST00000357749.2	-	6	835	c.806G>T	c.(805-807)gGa>gTa	p.G269V	CHM_ENST00000537751.1_Missense_Mutation_p.G121V|CHM_ENST00000467744.1_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	269					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.G269V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCCACTCGTCCTTCTCGAAA	0.338000													37	87					3.78316e-11	4.92957e-11	0.086207	1	0
MYH2	4620	broad.mit.edu	37	17	10443380	10443380	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:10443380C>T	ENST00000245503.5	-	12	1396	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	MYH2_ENST00000397183.2_Missense_Mutation_p.A338T|MYH2_ENST00000532183.1_Missense_Mutation_p.A338T|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	338	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A338T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATATCAATAGCACTCTGTCAA	0.408000													47	14					0	0	0.124865	0	0
EYA4	2070	broad.mit.edu	37	6	133849905	133849905	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:133849905C>A	ENST00000367895.5	+	20	2346	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	EYA4_ENST00000430974.2_Intron|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.L634M|EYA4_ENST00000355286.6_Missense_Mutation_p.L605M|EYA4_ENST00000431403.2_Missense_Mutation_p.L628M|EYA4_ENST00000525849.1_Missense_Mutation_p.L605M|EYA4_ENST00000355167.3_Missense_Mutation_p.L628M|EYA4_ENST00000452339.2_Missense_Mutation_p.L574M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	628					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.L628M(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CTCAGACCTCCTGGCTCTCCA	0.453000													109	97					1.38406e-41	2.39978e-41	0.139131	1	0
PIP4K2C	79837	broad.mit.edu	37	12	57994654	57994654	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57994654C>T	ENST00000354947.5	+	8	890	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R274W|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R244W|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R292W			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	292	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.R292W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CGACATCATTCGGGGCTCTGA	0.562000													31	239					0	0	0.054565	0	0
CDH9	1007	broad.mit.edu	37	5	26916033	26916033	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:26916033C>A	ENST00000231021.4	-	3	401		c.e3-1			NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)						adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.?(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTGTGAAGCTTTAGAGAGG	0.343000													35	113					2.42023e-17	3.56404e-17	0.059317	1	0
CXorf38	159013	broad.mit.edu	37	X	40496313	40496313	+	Silent	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:40496313C>G	ENST00000378426.1	-	3	807	c.210G>C	c.(208-210)ctG>ctC	p.L70L	CXorf38_ENST00000440784.2_Silent_p.L104L|CXorf38_ENST00000378421.1_Silent_p.L70L|CXorf38_ENST00000327877.5_Silent_p.L189L			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	189								p.L189L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						TGAATTCATTCAGAAAATTTT	0.363000													52	57					0	0	0.139131	0	0
NLRP11	204801	broad.mit.edu	37	19	56320320	56320320	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:56320320A>G	ENST00000443188.1	-	5	2366	c.1656T>C	c.(1654-1656)aaT>aaC	p.N552N	NLRP11_ENST00000592953.1_Silent_p.N453N|NLRP11_ENST00000589824.2_Silent_p.N552N|NLRP11_ENST00000589093.1_Silent_p.N552N|NLRP11_ENST00000360133.3_Silent_p.N552N	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	552							ATP binding	p.N552N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTTCTTCCCGATTCTCATAGA	0.433000													53	66					0	0	0.139131	0	0
RTN1	6252	broad.mit.edu	37	14	60193880	60193880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:60193880C>A	ENST00000267484.5	-	3	1857	c.1522G>T	c.(1522-1524)Gag>Tag	p.E508*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	508					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.E508*(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGCGCACGCTCCTCGGCCCGG	0.731000													3	1					0.004672	0.00487612	0.115264	1	0
FANCB	2187	broad.mit.edu	37	X	14863236	14863236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:14863236C>G	ENST00000398334.1	-	8	1936	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H	FANCB_ENST00000324138.3_Missense_Mutation_p.D557H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	557					DNA repair	nucleoplasm		p.D557H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTCTTGCTATCAGGGGTCAAC	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				81	99					0	0	0.139131	0	0
ADM	133	broad.mit.edu	37	11	10327536	10327536	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:10327536C>A	ENST00000528655.1	+	2	756	c.139C>A	c.(139-141)Cgg>Agg	p.R47R	ADM_ENST00000525063.1_Silent_p.R47R|ADM_ENST00000526492.1_Silent_p.R47R|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000278175.5_Silent_p.R47R|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000528544.1_Silent_p.R47R|ADM_ENST00000524948.1_Silent_p.R47R			P35318	ADML_HUMAN	adrenomedullin	47					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	p.(=)(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GAGGGAACTGCGGATGTCCAG	0.632000													10	7					1.08611e-07	1.28304e-07	0.080935	1	0
DMBT1	1755	broad.mit.edu	37	10	124358481	124358481	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:124358481C>A	ENST00000338354.3	+	26	3254	c.3148C>A	c.(3148-3150)Cag>Aag	p.Q1050K	DMBT1_ENST00000368955.3_Missense_Mutation_p.Q1040K|DMBT1_ENST00000368956.2_Missense_Mutation_p.Q551K|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.Q1040K|DMBT1_ENST00000330163.4_Missense_Mutation_p.Q551K|DMBT1_ENST00000368909.3_Missense_Mutation_p.Q1050K			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1050	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.Q1050K(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCGGTTTGGTCAGGGCTCAGG	0.602000													118	14					1.16775e-40	2.0166e-40	0.139131	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121653414	121653414	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:121653414C>A	ENST00000393386.2	+	12	4725	c.4314C>A	c.(4312-4314)tcC>tcA	p.S1438S	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1438					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S1438S(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATGGCTTATCCATTCATAAGT	0.418000													11	31					0.000673444	0.000715015	0.069234	1	0
SLC9C2	284525	broad.mit.edu	37	1	173478744	173478744	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:173478744G>C	ENST00000367714.3	-	24	3424	c.3002C>G	c.(3001-3003)aCt>aGt	p.T1001S	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	1001					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	p.T1001S(1)									CTGATAGGCAGTACTGAGAGC	0.323000													10	15					0	0	0.080935	0	0
ANK2	287	broad.mit.edu	37	4	114280096	114280096	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:114280096G>A	ENST00000357077.4	+	38	10375	c.10322G>A	c.(10321-10323)cGa>cAa	p.R3441Q	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.R3408Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3408					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3441Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTACATCCCGATTGCCAGTT	0.478000													6	32					0	0	0.021553	0	0
OR51T1	401665	broad.mit.edu	37	11	4904111	4904111	+	Nonstop_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:4904111T>A	ENST00000380378.1	+	1	1063	c.1063T>A	c.(1063-1065)Tga>Aga	p.*355R	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Nonstop_Mutation_p.*328R|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*355R(1)|p.*328R(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGATGGGATTGAAGGTAGGA	0.468000													10	21					0	0	0.069234	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140744879	140744879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140744879G>T	ENST00000518069.1	+	1	982	c.982G>T	c.(982-984)Gtt>Ttt	p.V328F	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.V328F(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGCTCTTGTTGCCAGCGC	0.502000													18	30					2.94398e-08	3.55593e-08	0.043863	1	0
MYH4	4622	broad.mit.edu	37	17	10348183	10348183	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:10348183G>T	ENST00000255381.2	-	38	5610	c.5500C>A	c.(5500-5502)Cag>Aag	p.Q1834K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1834					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1834K(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTGCTTCTGTTCACTTTCC	0.468000													56	13					9.53978e-28	1.57169e-27	0.139131	1	0
ATP11C	286410	broad.mit.edu	37	X	138880430	138880430	+	Splice_Site	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:138880430A>G	ENST00000370557.1	-	10	1885		c.e10+1		ATP11C_ENST00000361648.2_Splice_Site|ATP11C_ENST00000327569.3_Splice_Site|ATP11C_ENST00000370543.1_Splice_Site|ATP11C_ENST00000359686.2_Splice_Site			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCGCATACTAACTTTTCAACA	0.313000													23	70					0	0	0.083992	0	0
SACS	26278	broad.mit.edu	37	13	23915110	23915110	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:23915110T>A	ENST00000382298.3	-	10	3493	c.2905A>T	c.(2905-2907)Agt>Tgt	p.S969C	SACS_ENST00000402364.1_Missense_Mutation_p.S219C|SACS_ENST00000382292.3_Missense_Mutation_p.S969C	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	969					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.S822C(1)|p.S969C(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCATCACTACTGTCTATTACT	0.358000													43	18					0	0	0.104719	0	0
TTN	7273	broad.mit.edu	37	2	179593427	179593427	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179593427G>T	ENST00000589042.1	-	66	19450	c.19226C>A	c.(19225-19227)gCt>gAt	p.A6409D	TTN_ENST00000591111.1_Missense_Mutation_p.A6092D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A5165D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6092	Ig-like 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A5165D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGTTCCAGCCACAACACA	0.383000													17	20					1.99824e-07	2.3349e-07	0.033300	1	0
BVES	11149	broad.mit.edu	37	6	105549026	105549026	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:105549026C>G	ENST00000314641.5	-	8	1237	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H	BVES_ENST00000336775.5_Missense_Mutation_p.D341H|BVES_ENST00000446408.2_Missense_Mutation_p.D341H	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	341					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.D341H(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TCATCATCATCTTCTGCTCCT	0.473000													31	38					0	0	0.134883	0	0
C7orf69	80099	broad.mit.edu	37	7	47859104	47859104	+	Splice_Site	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:47859104G>A	ENST00000418326.2	+	4	334		c.e4-1		C7orf69_ENST00000258776.4_Splice_Site|PKD1L1_ENST00000289672.2_Intron			Q9H7B7	CG069_HUMAN	chromosome 7 open reading frame 69							extracellular region		p.?(1)		lung(2)	2						TTTGCACACAGCACCACCTAC	0.418000													10	6					0	0	0.058154	0	0
SLC2A13	114134	broad.mit.edu	37	12	40441975	40441975	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:40441975C>A	ENST00000280871.4	-	2	644	c.594G>T	c.(592-594)gaG>gaT	p.E198D	SLC2A13_ENST00000380858.1_Missense_Mutation_p.E198D	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	198						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	p.E179D(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GTGGTGAGACCTCCGCAATGT	0.403000										HNSCC(50;0.14)			74	109					2.40982e-25	3.88098e-25	0.139131	1	0
BTN1A1	696	broad.mit.edu	37	6	26509112	26509112	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:26509112G>T	ENST00000244513.6	+	7	1357	c.1291G>T	c.(1291-1293)Gga>Tga	p.G431*		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	431	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity	p.G431*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTATGAATCAGGAGACATCTC	0.522000													18	25					9.16793e-09	1.13282e-08	0.033300	1	0
HK3	3101	broad.mit.edu	37	5	176314548	176314548	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:176314548C>A	ENST00000292432.5	-	11	1595	c.1504G>T	c.(1504-1506)Gca>Tca	p.A502S		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	502	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.Q501_A502>HS(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGCATCTGTGCCTGAACCGCA	0.677000													20	28					1.9806e-07	2.33331e-07	0.069288	1	0
TRIM24	8805	broad.mit.edu	37	7	138189108	138189108	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:138189108G>A	ENST00000343526.4	+	2	653	c.438G>A	c.(436-438)aaG>aaA	p.K146K	TRIM24_ENST00000415680.2_Silent_p.K146K|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	146					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.K146N(2)|p.K146K(2)|p.K104N(1)|p.K104K(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTTTGTGAAGGACACTACTG	0.373000													42	50					0	0	0.124865	0	0
COL1A2	1278	broad.mit.edu	37	7	94058669	94058669	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:94058669G>C	ENST00000297268.6	+	51	4352	c.3881G>C	c.(3880-3882)gGc>gCc	p.G1294A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1294	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G1294A(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	ATTCTACAGGGCTCTAATGAT	0.448000										HNSCC(75;0.22)			21	23					0	0	0.055883	0	0
MYO1A	4640	broad.mit.edu	37	12	57422590	57422590	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57422590C>A	ENST00000442789.2	-	29	3368	c.3081G>T	c.(3079-3081)aaG>aaT	p.K1027N	MYO1A_ENST00000300119.3_Missense_Mutation_p.K1027N|MYO1A_ENST00000544473.1_Missense_Mutation_p.K865N|TAC3_ENST00000415231.1_5'UTR	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1027					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.K1027N(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTAGCGTAGCTTGCTGTTGT	0.542000													38	39					6.2361e-21	9.54279e-21	0.098360	1	0
DST	667	broad.mit.edu	37	6	56469819	56469819	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:56469819C>T	ENST00000370754.5	-	39	9507	c.9508G>A	c.(9508-9510)Gtc>Atc	p.V3170I	DST_ENST00000312431.6_Missense_Mutation_p.V2992I|DST_ENST00000446842.2_Missense_Mutation_p.V2666I|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.V2992I|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.V2992I|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2992					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGCTTGGGACATCTTCATTT	0.348000													26	34					0	0	0.091800	0	0
VSIG4	11326	broad.mit.edu	37	X	65259825	65259825	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:65259825C>A	ENST00000455586.2	-	1	142	c.16G>T	c.(16-18)Ggc>Tgc	p.G6C	VSIG4_ENST00000374737.4_Missense_Mutation_p.G6C|VSIG4_ENST00000412866.2_Missense_Mutation_p.G6C	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	6					complement activation, alternative pathway	integral to membrane	protein binding	p.G6C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGCAGGCCCAGTAAGATC	0.567000													9	24					2.80697e-09	3.52924e-09	0.080935	1	0
NETO1	81832	broad.mit.edu	37	18	70417732	70417732	+	Missense_Mutation	SNP	C	C	T	rs140307788	byFrequency	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr18:70417732C>T	ENST00000327305.6	-	9	1763	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	NETO1_ENST00000299430.2_Missense_Mutation_p.R368H|NETO1_ENST00000583169.1_Missense_Mutation_p.R369H	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	369					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.R369H(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTTTTTACGAGGCTGTTT	0.458000													26	44					0	0	0.108266	0	0
FAM177B	400823	broad.mit.edu	37	1	222923317	222923317	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:222923317C>A	ENST00000445590.2	+	6	660	c.394C>A	c.(394-396)Cct>Act	p.P132T	FAM177B_ENST00000360827.2_Missense_Mutation_p.P132T	NM_207468.2	NP_997351.2	A6PVY3	F177B_HUMAN	family with sequence similarity 177, member B	132								p.P132T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AGCTGAGGTTCCTAATGAAAA	0.448000													56	45					2.30037e-20	3.48295e-20	0.139131	1	0
CHST10	9486	broad.mit.edu	37	2	101014379	101014379	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:101014379C>A	ENST00000264249.3	-	5	803	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	CHST10_ENST00000409701.1_Missense_Mutation_p.V140F|CHST10_ENST00000542617.1_Missense_Mutation_p.V188F	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	140					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction		p.V140F(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CCATTTAGAACAATCAGCACT	0.512000													14	20					0.000219431	0.00023648	0.119110	1	0
FBLN1	2192	broad.mit.edu	37	22	45960776	45960776	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:45960776G>T	ENST00000348697.2	+	15	1857	c.1710G>T	c.(1708-1710)aaG>aaT	p.K570N	FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000442170.2_Missense_Mutation_p.K570N			P23142	FBLN1_HUMAN	fibulin 1	570	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.K570N(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGAAATCCAAGAAGGGAAGGC	0.527000													14	25					2.31682e-05	2.58762e-05	0.132662	1	0
C7orf60	154743	broad.mit.edu	37	7	112462041	112462041	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:112462041T>C	ENST00000297145.4	-	5	1141	c.976A>G	c.(976-978)Aca>Gca	p.T326A		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	326								p.T326A(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						AAGTCACTTGTGGTTTTTAGA	0.373000													10	21					0	0	0.058154	0	0
OTUD5	55593	broad.mit.edu	37	X	48780529	48780529	+	Silent	SNP	C	C	A	rs138137225		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48780529C>A	ENST00000156084.4	-	9	1698	c.1638G>T	c.(1636-1638)ctG>ctT	p.L546L	OTUD5_ENST00000376488.3_Silent_p.L541L|OTUD5_ENST00000396743.3_Silent_p.L541L|OTUD5_ENST00000428668.2_Silent_p.L324L	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	546					negative regulation of type I interferon production		cysteine-type peptidase activity	p.L517L(1)|p.L546L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GGGACACTGCCAGCACCGAAG	0.532000													23	39					0.00047179	0.000503398	0.083992	1	0
OR2T2	401992	broad.mit.edu	37	1	248616203	248616203	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248616203C>A	ENST00000342927.3	+	1	127	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532000													24	215					1.64293e-13	2.28628e-13	0.083992	1	0
SERPINI2	5276	broad.mit.edu	37	3	167183295	167183295	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:167183295C>T	ENST00000476257.1	-	5	943	c.645G>A	c.(643-645)atG>atA	p.M215I	SERPINI2_ENST00000471111.1_Missense_Mutation_p.M215I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.M215I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.M215I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	215					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.M215I(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						GAGCCTTCATCATTGGAATTT	0.318000													80	51					0	0	0.139131	0	0
SSTR1	6751	broad.mit.edu	37	14	38679067	38679067	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:38679067C>T	ENST00000267377.2	+	3	1090	c.473C>T	c.(472-474)gCc>gTc	p.A158V		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	158					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.A158V(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CGCTACGTGGCCGTGGTGCAT	0.647000													39	11					0	0	0.098360	0	0
RYR2	6262	broad.mit.edu	37	1	237580397	237580397	+	Silent	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237580397T>A	ENST00000366574.2	+	11	1139	c.822T>A	c.(820-822)ctT>ctA	p.L274L	RYR2_ENST00000360064.6_Silent_p.L272L|RYR2_ENST00000542537.1_Silent_p.L258L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	274	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACGTTCCCTTTGGAGACTAG	0.428000													28	21					0	0	0.144211	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876055	74876055	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:74876055C>T	ENST00000331628.3	-	2	640	c.393G>A	c.(391-393)caG>caA	p.Q131Q	SYNDIG1L_ENST00000554823.1_Silent_p.Q131Q	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	131					response to biotic stimulus	Golgi apparatus|integral to membrane		p.Q131Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GGTCATCCTCCTGGTCCCGCA	0.532000													75	12					0	0	0.139131	0	0
C15orf27	123591	broad.mit.edu	37	15	76496245	76496245	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:76496245C>T	ENST00000388942.3	+	11	1461	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	395						integral to membrane		p.T395T(1)		endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GCTCAGTCACCCGGGCCCAGA	0.677000													23	17					0	0	0.076483	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061712	103061712	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:103061712G>C	ENST00000264260.2	+	9	1573	c.984G>C	c.(982-984)caG>caC	p.Q328H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q186H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	328	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.Q328H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AAGTCACTCAGCGTGATCTTC	0.403000													14	22					0	0	0.132662	0	0
RAB33A	9363	broad.mit.edu	37	X	129306210	129306210	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:129306210G>T	ENST00000257017.4	+	1	588	c.174G>T	c.(172-174)ggG>ggT	p.G58G		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	58					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G58G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GCTTCTGCGGGGGTACCTTCC	0.562000													21	42					3.8784e-16	5.6725e-16	0.062417	1	0
FLT4	2324	broad.mit.edu	37	5	180047710	180047710	+	Nonsense_Mutation	SNP	C	C	A	rs144822344		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:180047710C>A	ENST00000261937.6	-	16	2383	c.2305G>T	c.(2305-2307)Gag>Tag	p.E769*	FLT4_ENST00000502649.1_Nonsense_Mutation_p.E769*|FLT4_ENST00000393347.3_Nonsense_Mutation_p.E769*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	769					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.E769*(2)|p.E579*(1)		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)	CCCTTATCCTCGGAGCCTGCG	0.597000													18	10					3.32936e-07	3.84845e-07	0.038395	1	0
BAI3	577	broad.mit.edu	37	6	70092758	70092758	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:70092758A>G	ENST00000370598.1	+	31	5132	c.4311A>G	c.(4309-4311)ctA>ctG	p.L1437L	BAI3_ENST00000546190.1_Silent_p.L401L|BAI3_ENST00000238918.8_Silent_p.L643L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1437					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1437L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATATGGAACTATTTCAAGAAC	0.363000													16	21					0	0	0.038395	0	0
NAGA	4668	broad.mit.edu	37	22	42456311	42456311	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:42456311A>G	ENST00000396398.3	-	9	1740	c.1208T>C	c.(1207-1209)aTc>aCc	p.I403T	NAGA_ENST00000402937.1_Missense_Mutation_p.I403T|NAGA_ENST00000403363.1_Missense_Mutation_p.I403T	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	403					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	p.I403T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CAGGTTCTTGATGGGATACAG	0.552000													43	88					0	0	0.111260	0	0
GEMIN5	25929	broad.mit.edu	37	5	154270801	154270801	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:154270801C>A	ENST00000285873.7	-	26	4337	c.4262_splice	c.e26+1	p.C1421_splice		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1421					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.C1421F(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTACTTACCACTGGCTCTG	0.483000													44	60					6.07928e-31	1.02917e-30	0.111260	1	0
ABCA13	154664	broad.mit.edu	37	7	48312879	48312879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:48312879G>T	ENST00000435803.1	+	17	3640	c.3616G>T	c.(3616-3618)Gct>Tct	p.A1206S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1206					transport	integral to membrane	ATP binding|ATPase activity	p.A1151S(1)|p.A1206S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATAATGTTGCTAGACTCAT	0.388000													16	9					1.45105e-14	2.05925e-14	0.038395	1	0
PCDHB2	56133	broad.mit.edu	37	5	140475631	140475631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140475631C>A	ENST00000194155.4	+	1	1405	c.1257C>A	c.(1255-1257)taC>taA	p.Y419*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		419	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Y419*(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATCCGAATACAACATCACCA	0.522000													25	38					4.26978e-12	5.71964e-12	0.083992	1	0
ADM	133	broad.mit.edu	37	11	10327535	10327535	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:10327535G>T	ENST00000528655.1	+	2	755	c.138G>T	c.(136-138)ctG>ctT	p.L46L	ADM_ENST00000525063.1_Silent_p.L46L|ADM_ENST00000526492.1_Silent_p.L46L|ADM_ENST00000530439.1_5'UTR|ADM_ENST00000278175.5_Silent_p.L46L|ADM_ENST00000534464.1_5'UTR|ADM_ENST00000528544.1_Silent_p.L46L|ADM_ENST00000524948.1_Silent_p.L46L			P35318	ADML_HUMAN	adrenomedullin	46					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity	p.(=)(1)		central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		AGAGGGAACTGCGGATGTCCA	0.632000													10	7					6.40141e-05	7.02196e-05	0.080935	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621365	144621365	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:144621365T>A	ENST00000262577.5	-	2	203	c.172A>T	c.(172-174)Agc>Tgc	p.S58C		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	58					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S58C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCCTCCGGCTTGGACGAGGG	0.657000													25	37					0	0	0.125774	0	0
KMT2D	8085	broad.mit.edu	37	12	49445464	49445464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:49445464C>A	ENST00000301067.7	-	10	2001	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E668*(2)|p.E667_E668>D*(2)									AAGGGAGATTCCTCAGGCGGT	0.642000													27	36					1.77063e-15	2.56354e-15	0.108266	1	0
CENPT	80152	broad.mit.edu	37	16	67864378	67864378	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:67864378G>A	ENST00000562787.1	-	11	1325	c.777C>T	c.(775-777)ccC>ccT	p.P259P	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Silent_p.P259P|CENPT_ENST00000219172.3_Silent_p.P259P|CENPT_ENST00000440851.2_Silent_p.P259P	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	259					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	p.P259P(1)		NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GAGGCGTGCAGGGCAGGGAGT	0.597000													7	14					0	0	0.029380	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798274	55798274	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:55798274G>A	ENST00000313555.1	+	1	380	c.380G>A	c.(379-381)tGc>tAc	p.C127Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C127Y(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCAGCCATCTGCAACCCACTG	0.463000													16	49					0	0	0.132662	0	0
PCBP3	54039	broad.mit.edu	37	21	47333886	47333886	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:47333886A>G	ENST00000400314.1	+	10	960	c.622A>G	c.(622-624)Att>Gtt	p.I208V	PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400309.1_Missense_Mutation_p.I208V|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Missense_Mutation_p.I208V|PCBP3_ENST00000449640.1_Missense_Mutation_p.I208V|PCBP3_ENST00000400304.1_Missense_Mutation_p.I176V			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	208					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.I176V(1)|p.I208V(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AGGTGCCACCATTCCCTACCG	0.627000													22	36					0	0	0.091800	0	0
CRNKL1	51340	broad.mit.edu	37	20	20018200	20018200	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:20018200C>A	ENST00000377340.2	-	14	2177	c.2146G>T	c.(2146-2148)Gct>Tct	p.A716S	CRNKL1_ENST00000521379.1_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A704S|CRNKL1_ENST00000536226.1_Missense_Mutation_p.A555S	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	716					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	p.A716S(1)		breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TCAAACTGAGCAAAGCTGATC	0.318000													34	59					2.46105e-21	3.77947e-21	0.045705	1	0
KIF20A	10112	broad.mit.edu	37	5	137515415	137515415	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:137515415G>T	ENST00000394894.3	+	2	272	c.46G>T	c.(46-48)Gac>Tac	p.D16Y	KIF20A_ENST00000508792.1_Missense_Mutation_p.D16Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	16					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.D16Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTGTCCGATGACGATGTCGT	0.542000													5	58					1.024e-07	1.21972e-07	0.014758	1	0
TGM5	9333	broad.mit.edu	37	15	43552773	43552773	+	Silent	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:43552773T>C	ENST00000220420.5	-	2	22	c.15A>G	c.(13-15)ctA>ctG	p.L5L	TGM5_ENST00000349114.4_Silent_p.L5L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	5					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L5L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GGGCCACTTCTAGCCCTGCAA	0.542000													46	32					0	0	0.139131	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480379	140480379	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140480379C>T	ENST00000231130.2	+	1	146	c.146C>T	c.(145-147)gCa>gTa	p.A49V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		49	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A49V(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAACCTAGCAAAGGATCTG	0.507000													25	23					0	0	0.083992	0	0
ARMC12	221481	broad.mit.edu	37	6	35715160	35715160	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:35715160G>T	ENST00000373866.3	+	4	589	c.567G>T	c.(565-567)cgG>cgT	p.R189R	ARMC12_ENST00000373869.3_Silent_p.R189R|ARMC12_ENST00000288065.2_Silent_p.R216R			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	189							binding	p.R216L(1)									AGCTGCGACGGGTGATGCCTG	0.587000													12	31					0.00010058	0.000109492	0.093190	1	0
PCLO	27445	broad.mit.edu	37	7	82387927	82387927	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:82387927C>G	ENST00000333891.8	-	25	15730	c.15393G>C	c.(15391-15393)tgG>tgC	p.W5131C		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5054					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.W5131C(2)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGTTTGTGCCAGTTGACTA	0.393000													71	77					0	0	0.139131	0	0
WAPAL	23063	broad.mit.edu	37	10	88221029	88221029	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:88221029T>A	ENST00000298767.5	-	10	2858	c.2386A>T	c.(2386-2388)Atg>Ttg	p.M796L	WAPAL_ENST00000263070.7_Missense_Mutation_p.M63L|WAPAL_ENST00000372075.1_Missense_Mutation_p.M63L	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	796	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.M796L(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AATGTCTCCATAGCTAAATGC	0.348000													53	5					0	0	0.139131	0	0
FCRL3	115352	broad.mit.edu	37	1	157667638	157667638	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:157667638C>G	ENST00000368184.3	-	5	661	c.370G>C	c.(370-372)Gac>Cac	p.D124H	FCRL3_ENST00000368186.5_Missense_Mutation_p.D124H|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	124	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity	p.D124H(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTTTTGTTGTCTTTCCCCTGA	0.423000													96	58					0	0	0.139131	0	0
KIAA1211	57482	broad.mit.edu	37	4	57181643	57181643	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:57181643C>A	ENST00000504228.1	+	6	2080	c.1975C>A	c.(1975-1977)Ccc>Acc	p.P659T	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P652T|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P659T			Q6ZU35	K1211_HUMAN	KIAA1211	659								p.P659T(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCAGGAGTCTCCCAGCAGCGC	0.677000													16	21					2.31682e-05	2.58762e-05	0.132662	1	0
TEX14	56155	broad.mit.edu	37	17	56693591	56693591	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:56693591C>A	ENST00000389934.3	-	7	829	c.712G>T	c.(712-714)Gct>Tct	p.A238S	TEX14_ENST00000349033.5_Missense_Mutation_p.A238S|TEX14_ENST00000240361.8_Missense_Mutation_p.A244S	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	244	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.A244S(1)|p.A238S(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATCATCAGCTTGAATCACT	0.493000													18	24					1.99824e-07	2.3349e-07	0.033300	1	0
GRM5	2915	broad.mit.edu	37	11	88780709	88780709	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:88780709T>A	ENST00000418177.2	-	2	699	c.332A>T	c.(331-333)gAg>gTg	p.E111V	GRM5_ENST00000455756.2_Missense_Mutation_p.E111V|GRM5_ENST00000393294.3_Missense_Mutation_p.E111V|GRM5_ENST00000393297.1_Missense_Mutation_p.E111V|GRM5_ENST00000305432.5_Missense_Mutation_p.E111V|GRM5_ENST00000305447.4_Missense_Mutation_p.E111V			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	111					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.E111V(2)|p.E111A(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTTATGAACTCAATGCTCTG	0.517000													7	21					0	0	0.029380	0	0
CCDC14	64770	broad.mit.edu	37	3	123663717	123663717	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:123663717C>G	ENST00000485727.1	-	5	5458	c.866G>C	c.(865-867)aGt>aCt	p.S289T	CCDC14_ENST00000489746.1_Missense_Mutation_p.S289T|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000488653.2_Missense_Mutation_p.S489T|CCDC14_ENST00000433542.2_Missense_Mutation_p.S448T|CCDC14_ENST00000310351.4_Missense_Mutation_p.S329T			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	489						centrosome		p.S448T(1)|p.S329T(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		AGCATTCTCACTTCTTAATGG	0.388000													9	48					0	0	0.058154	0	0
GABRR2	2570	broad.mit.edu	37	6	89981397	89981397	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:89981397C>A	ENST00000402938.3	-	3	398	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.D114Y			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	114					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D89Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GAGATGCTGTCCAGGCTCTCC	0.617000													6	12					0.0381472	0.0390555	0.038147	1	0
CDH18	1016	broad.mit.edu	37	5	19747077	19747077	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:19747077A>G	ENST00000507958.1	-	6	1487	c.497T>C	c.(496-498)gTt>gCt	p.V166A	CDH18_ENST00000506372.1_Missense_Mutation_p.V166A|CDH18_ENST00000502796.1_Missense_Mutation_p.V166A|CDH18_ENST00000274170.4_Missense_Mutation_p.V166A|CDH18_ENST00000382275.1_Missense_Mutation_p.V166A|CDH18_ENST00000511273.1_Missense_Mutation_p.V166A			Q13634	CAD18_HUMAN	cadherin 18, type 2	166	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V166A(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCACAGTAACAATGTATGG	0.343000													119	57					0	0	0.139131	0	0
P2RY10	27334	broad.mit.edu	37	X	78216792	78216792	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:78216792T>C	ENST00000171757.2	+	4	1055	c.775T>C	c.(775-777)Tat>Cat	p.Y259H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Y259H	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	259						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y259H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTTCACTCCCTATCATATTAA	0.458000													56	52					0	0	0.139131	0	0
PIK3R4	30849	broad.mit.edu	37	3	130452634	130452634	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130452634A>C	ENST00000356763.3	-	4	1765	c.1208T>G	c.(1207-1209)cTt>cGt	p.L403R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	403					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.L403R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AGCCAAATGAAGAATCAGTTC	0.403000													5	260					0	0	0.014758	0	0
KIF4A	24137	broad.mit.edu	37	X	69622419	69622419	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:69622419T>A	ENST00000374403.3	+	23	2575	c.2493T>A	c.(2491-2493)agT>agA	p.S831R	KIF4A_ENST00000374388.3_Missense_Mutation_p.S831R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	831	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	p.S831R(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTGAAGGAGTGCTCAGATTG	0.453000													11	19					0	0	0.080935	0	0
SPG7	6687	broad.mit.edu	37	16	89613071	89613071	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:89613071G>T	ENST00000268704.2	+	11	1470	c.1455G>T	c.(1453-1455)agG>agT	p.R485S		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	485					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R485S(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GGCAGGAGAGGCGGGAGATTT	0.587000													3	42					0.000602214	0.000640971	0.014758	1	0
OR8J3	81168	broad.mit.edu	37	11	55904560	55904560	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:55904560A>T	ENST00000301529.1	-	1	634	c.635T>A	c.(634-636)aTt>aAt	p.I212N		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I212N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGAACTGTAATCATGGAAAA	0.358000													37	32					0	0	0.069456	0	0
PPP2R2D	55844	broad.mit.edu	37	10	133758916	133758916	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:133758916G>A	ENST00000422256.2	+	4	577	c.92G>A	c.(91-93)cGc>cAc	p.R31H	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	258					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.R227H(1)|p.R31H(1)		endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GGGACCATCCGCCTGTGTGAC	0.582000													9	32					0	0	0.058154	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52115520	52115520	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:52115520G>T	ENST00000222107.4	-	9	1758	c.1620C>A	c.(1618-1620)agC>agA	p.S540R	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.S540R|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.S540R|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.S540R|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.S540R			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	540					cell adhesion	integral to membrane	sugar binding	p.S540R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCCGTGGTGCTTGGGGCCT	0.552000													41	46					6.5261e-18	9.64338e-18	0.104719	1	0
FOXO4	4303	broad.mit.edu	37	X	70321152	70321152	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:70321152G>T	ENST00000374259.3	+	2	1404	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	FOXO4_ENST00000341558.3_Missense_Mutation_p.G303W	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	358					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G358W(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					AGCAGGAGAAGGGTGCTTCTC	0.612000											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	10					4.7546e-09	5.92603e-09	0.146539	1	0
MYBPC1	4604	broad.mit.edu	37	12	102038549	102038549	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:102038549G>T	ENST00000549145.1	+	11	1004	c.904G>T	c.(904-906)Ggt>Tgt	p.G302C	MYBPC1_ENST00000553190.1_Missense_Mutation_p.G289C|MYBPC1_ENST00000360610.2_Missense_Mutation_p.G289C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.G276C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.G190C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.G275C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.G314C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.G263C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.G289C|MYBPC1_ENST00000541119.1_Missense_Mutation_p.G277C|MYBPC1_ENST00000536007.1_Missense_Mutation_p.G270C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.G289C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.G314C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.G289C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.G289C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	289	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.G289C(1)|p.G314C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GTATAAAAATGGTCAAGAAAT	0.393000													19	27					8.10497e-08	9.68094e-08	0.055883	1	0
GPR174	84636	broad.mit.edu	37	X	78426678	78426678	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:78426678G>C	ENST00000276077.1	+	1	210	c.174G>C	c.(172-174)atG>atC	p.M58I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	58						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.M58I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGATATTTATGATAAACTTAG	0.408000										HNSCC(63;0.18)			10	17					0	0	0.069234	0	0
MTMR8	55613	broad.mit.edu	37	X	63488738	63488738	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:63488738C>T	ENST00000374852.3	-	14	1861	c.1794G>A	c.(1792-1794)atG>atA	p.M598I	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	598						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.M598I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTACTTGATCCATCTGAGCTC	0.507000													21	27					0	0	0.049695	0	0
F8	2157	broad.mit.edu	37	X	154157090	154157090	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:154157090G>T	ENST00000360256.4	-	14	5175	c.4975C>A	c.(4975-4977)Cca>Aca	p.P1659T		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1659	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.P1659T(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGACTGGTGGGTTTTGAGAG	0.418000													61	84					4.09106e-26	6.66348e-26	0.139131	1	0
EXOSC9	5393	broad.mit.edu	37	4	122734443	122734443	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:122734443A>T	ENST00000512454.1	+	8	1050	c.834A>T	c.(832-834)acA>acT	p.T278T	EXOSC9_ENST00000243498.5_Silent_p.T294T|EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Silent_p.T294T			Q06265	EXOS9_HUMAN	exosome component 9	294					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.T294T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						AAAGGATCACAGCATTTAAAA	0.418000													43	37					0	0	0.092188	0	0
CATSPER3	347732	broad.mit.edu	37	5	134346177	134346177	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:134346177A>T	ENST00000282611.6	+	7	1137	c.1051A>T	c.(1051-1053)Atc>Ttc	p.I351F		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	351					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.I351F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTCATCGATATCTACTTTTC	0.512000													14	37					0	0	0.132662	0	0
ATP8B4	79895	broad.mit.edu	37	15	50154564	50154564	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:50154564G>T	ENST00000284509.6	-	27	3316	c.3175C>A	c.(3175-3177)Cga>Aga	p.R1059R	ATP8B4_ENST00000559829.1_Silent_p.R1059R	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1059					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R1059R(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGGGAATGTCGTGCATTACCT	0.358000													27	26					9.39395e-14	1.31576e-13	0.116897	1	0
KIAA1109	84162	broad.mit.edu	37	4	123271219	123271219	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:123271219A>T	ENST00000264501.4	+	80	14212	c.13839A>T	c.(13837-13839)tcA>tcT	p.S4613S	KIAA1109_ENST00000388738.3_Silent_p.S4613S			Q2LD37	K1109_HUMAN	KIAA1109	4613					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.S4613S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAAGTTCACAAGAACAAT	0.333000													36	27					0	0	0.059317	0	0
CBX4	8535	broad.mit.edu	37	17	77808278	77808278	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:77808278G>C	ENST00000269397.4	-	5	1340	c.1163C>G	c.(1162-1164)cCc>cGc	p.P388R		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	388	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.P388R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			gtggtgatgggggtgcgggtg	0.701000													3	1					0	0	0.115264	0	0
CCSER2	54462	broad.mit.edu	37	10	86131530	86131530	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:86131530C>A	ENST00000224756.8	+	2	907	c.722C>A	c.(721-723)tCa>tAa	p.S241*	CCSER2_ENST00000372088.2_Nonsense_Mutation_p.S241*|CCSER2_ENST00000359979.4_Nonsense_Mutation_p.S241*	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2									p.S241*(1)									ATAACCAGATCACATTCCTTT	0.363000													16	62					2.23348e-06	2.55425e-06	0.146539	1	0
UBAP2L	9898	broad.mit.edu	37	1	154224114	154224114	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:154224114A>G	ENST00000428931.1	+	14	1816	c.1649A>G	c.(1648-1650)tAt>tGt	p.Y550C	UBAP2L_ENST00000271877.7_Missense_Mutation_p.Y561C|UBAP2L_ENST00000361546.2_Missense_Mutation_p.Y550C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.Y550C	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	550					binding of sperm to zona pellucida		protein binding	p.Y550C(2)|p.Y46C(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTAGCCTGTATACCAGCACG	0.478000													3	130					0	0	0.009096	0	0
CRB1	23418	broad.mit.edu	37	1	197403914	197403914	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:197403914C>G	ENST00000367397.1	+	5	1922	c.1064C>G	c.(1063-1065)aCc>aGc	p.T355S	CRB1_ENST00000535699.1_Missense_Mutation_p.T950S|CRB1_ENST00000367399.2_Missense_Mutation_p.T862S|CRB1_ENST00000544212.1_Missense_Mutation_p.T455S|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.T974S			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	974	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.T974S(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGAGAACTCACCAATATCACA	0.333000													88	54					0	0	0.139131	0	0
NRG3	10718	broad.mit.edu	37	10	84498383	84498383	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:84498383C>G	ENST00000372142.2	+	4	615	c.341C>G	c.(340-342)aCt>aGt	p.T114S	NRG3_ENST00000404576.2_Missense_Mutation_p.T139S|NRG3_ENST00000556918.1_Missense_Mutation_p.T165S|NRG3_ENST00000404547.1_Missense_Mutation_p.T335S|NRG3_ENST00000372141.2_Missense_Mutation_p.T335S	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	335	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.T114S(1)|p.T335S(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CTGCCGAAAACTGATTCCATC	0.408000													52	8					0	0	0.139131	0	0
IRX2	153572	broad.mit.edu	37	5	2749032	2749032	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:2749032C>G	ENST00000382611.6	-	3	1038	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	IRX2_ENST00000302057.5_Missense_Mutation_p.E264Q|IRX2_ENST00000502957.1_5'UTR	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E264Q(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TCGTCGTCCTCCAGGTCGTCA	0.711000													19	9					0	0	0.049695	0	0
KRT2	3849	broad.mit.edu	37	12	53044148	53044148	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:53044148C>A	ENST00000309680.3	-	2	796	c.775G>T	c.(775-777)Gat>Tat	p.D259Y		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	259	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.D259Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACAAGATCCTGCATGTTA	0.463000													65	96					2.81305e-35	4.80005e-35	0.139131	1	0
CD1A	909	broad.mit.edu	37	1	158227297	158227297	+	Missense_Mutation	SNP	C	C	T	rs145627915	byFrequency	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:158227297C>T	ENST00000289429.5	+	5	1503	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	324					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTTCAGGAAACGCTGGTGAGT	0.468000													5	328					0	0	0.021553	0	0
RSPO3	84870	broad.mit.edu	37	6	127440428	127440428	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:127440428C>A	ENST00000356698.4	+	1	680	c.91C>A	c.(91-93)Cga>Aga	p.R31R	RSPO3_ENST00000368317.3_Silent_p.R31R	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	31						extracellular region	heparin binding	p.R31R(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAGGCGCCAGCGAAGAAGTAA	0.552000													27	35					1.17739e-12	1.60215e-12	0.108266	1	0
C6	729	broad.mit.edu	37	5	41142976	41142976	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:41142976C>A	ENST00000263413.3	-	18	3020	c.2756G>T	c.(2755-2757)tGt>tTt	p.C919F	C6_ENST00000337836.5_Missense_Mutation_p.C919F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	919	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.C919F(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTGTTTGCACATCTTATAGT	0.433000													117	68					5.16181e-52	9.09663e-52	0.139131	1	0
CRYBG3	131544	broad.mit.edu	37	3	97605504	97605504	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:97605504C>A	ENST00000182096.4	+	5	1402	c.1338C>A	c.(1336-1338)ttC>ttA	p.F446L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3									p.F446L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAGAGCTTTTCCCACAATCTG	0.418000													33	231					1.36615e-20	2.08313e-20	0.054565	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212167	90212167	+	RNA	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:90212167C>G	ENST00000390277.2	+	0	356																											TGGCAGTGGGCCTGGGACAGA	0.557000													18	61					0	0	0.091800	0	0
FLNB	2317	broad.mit.edu	37	3	58111327	58111327	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:58111327G>C	ENST00000357272.4	+	23	4083	c.3918G>C	c.(3916-3918)gtG>gtC	p.V1306V	FLNB_ENST00000493452.1_Silent_p.V1137V|FLNB_ENST00000490882.1_Silent_p.V1306V|FLNB_ENST00000358537.3_Silent_p.V1306V|FLNB_ENST00000419752.2_Silent_p.V1137V|FLNB_ENST00000348383.5_Silent_p.V1306V|FLNB_ENST00000295956.4_Silent_p.V1306V|FLNB_ENST00000429972.2_Silent_p.V1306V			O75369	FLNB_HUMAN	filamin B, beta	1306	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.V1306V(2)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TAGTGGAGGTGACATATGATG	0.458000													3	47					0	0	0.115264	0	0
ZNF676	163223	broad.mit.edu	37	19	22379529	22379529	+	Translation_Start_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:22379529C>A	ENST00000397121.2	-	0	224					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCAATGCTCCCTGGAAAACAC	0.413000													30	37					2.08457e-15	2.99787e-15	0.045705	1	0
SLC6A8	6535	broad.mit.edu	37	X	152958790	152958790	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:152958790A>T	ENST00000253122.5	+	6	1461	c.985A>T	c.(985-987)Agc>Tgc	p.S329C	SLC6A8_ENST00000430077.2_Missense_Mutation_p.S214C|SLC6A8_ENST00000485324.1_3'UTR	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	329					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S329C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	AGCCCTGGGCAGCTACAACCG	0.627000													24	36					0	0	0.083992	0	0
NUP188	23511	broad.mit.edu	37	9	131749115	131749115	+	Missense_Mutation	SNP	C	C	T	rs148207291		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:131749115C>T	ENST00000372577.2	+	22	2246	c.2225C>T	c.(2224-2226)gCg>gTg	p.A742V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	742					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.A742V(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						CTGATTCATGCGATACTGAAC	0.493000													4	50					0	0	0.014758	0	0
ADAM12	8038	broad.mit.edu	37	10	127755307	127755307	+	Silent	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:127755307C>A	ENST00000368679.4	-	13	1710	c.1401G>T	c.(1399-1401)ggG>ggT	p.G467G	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Silent_p.G467G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	467	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G467G(3)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CACAGCACAGCCCATGTGCGC	0.562000													11	23					6.40141e-05	7.02196e-05	0.080935	1	0
GSPT2	23708	broad.mit.edu	37	X	51486783	51486783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:51486783G>T	ENST00000340438.4	+	1	303	c.61G>T	c.(61-63)Gaa>Taa	p.E21*		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	21					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	p.E21*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGTGGACATGGAATCCCCGGG	0.677000													10	23					0.000978159	0.00103344	0.080935	1	0
FAM193A	8603	broad.mit.edu	37	4	2674026	2674026	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:2674026A>C	ENST00000324666.5	+	11	1736	c.1385A>C	c.(1384-1386)cAc>cCc	p.H462P	FAM193A_ENST00000382839.3_Missense_Mutation_p.H462P|FAM193A_ENST00000545951.1_Missense_Mutation_p.H462P|FAM193A_ENST00000502458.1_Missense_Mutation_p.H484P|FAM193A_ENST00000505311.1_Missense_Mutation_p.H462P	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	462								p.H462P(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTGCCTTTGCACACTGTTCCA	0.567000													21	25					0	0	0.062417	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764395	77764395	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:77764395G>T	ENST00000521891.2	+	10	5686	c.5238G>T	c.(5236-5238)acG>acT	p.T1746T	ZFHX4_ENST00000518282.1_Silent_p.T1720T|ZFHX4_ENST00000455469.2_Silent_p.T1701T|ZFHX4_ENST00000050961.6_Silent_p.T1701T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1701	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1746T(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACCTGGGACGGAGTTCAGCT	0.507000										HNSCC(33;0.089)			14	29					5.01169e-05	5.53992e-05	0.033300	1	0
PDE4B	5142	broad.mit.edu	37	1	66713219	66713219	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:66713219C>A	ENST00000423207.2	+	2	798	c.313C>A	c.(313-315)Ctt>Att	p.L105I	PDE4B_ENST00000329654.4_Missense_Mutation_p.L120I|PDE4B_ENST00000371049.3_Missense_Mutation_p.L120I	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	120					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.L105I(1)|p.L120I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGGGCTGGTACTTCACGCCAC	0.537000													79	80					1.39921e-30	2.35945e-30	0.139131	1	0
TRO	7216	broad.mit.edu	37	X	54949157	54949157	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:54949157C>A	ENST00000173898.7	+	3	304	c.192C>A	c.(190-192)aaC>aaA	p.N64K	TRO_ENST00000420798.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.N64K|TRO_ENST00000319167.8_Missense_Mutation_p.N64K|TRO_ENST00000375041.2_Intron	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	64					embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.N64K(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CAGTTGTCAACCGGCCTAAGA	0.537000													7	12					0.000157383	0.000170037	0.038147	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299865	125299865	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:125299865C>A	ENST00000538699.1	-	2	123	c.43G>T	c.(43-45)Gcg>Tcg	p.A15S	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A15S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	15								p.A15S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCTCGACCGCGGGCGCTTTC	0.751000													7	6					2.0095e-06	2.30422e-06	0.029380	1	0
COL9A1	1297	broad.mit.edu	37	6	71004158	71004158	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:71004158G>C	ENST00000357250.6	-	5	566	c.408C>G	c.(406-408)tcC>tcG	p.S136S	COL9A1_ENST00000370496.3_Silent_p.S136S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	136	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.S136S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCTTCCCAGAGGAATCCTGAA	0.438000													108	126					0	0	0.139131	0	0
MSH2	4436	broad.mit.edu	37	2	47643558	47643558	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:47643558A>G	ENST00000406134.1	+	6	1128	c.1066A>G	c.(1066-1068)Ata>Gta	p.I356V	MSH2_ENST00000543555.1_Missense_Mutation_p.I290V|MSH2_ENST00000233146.2_Missense_Mutation_p.I356V			P43246	MSH2_HUMAN	mutS homolog 2	356					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.I356V(1)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAGAACAGAATAGAGGAGAG	0.383000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	59					0	0	0.054565	0	0
CCDC120	90060	broad.mit.edu	37	X	48919767	48919767	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48919767C>A	ENST00000603986.1	+	3	242	c.63_splice	c.e3-1	p.T22_splice	CCDC120_ENST00000536628.2_5'UTR|CCDC120_ENST00000496529.2_5'UTR|CCDC120_ENST00000422185.2_5'UTR|CCDC120_ENST00000376396.3_5'UTR|CCDC120_ENST00000597275.1_5'UTR			Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	397							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CACTGCCAGACTTTGTCCAGC	0.572000													3	11					0.115264	0.117728	0.115264	1	0
RICTOR	253260	broad.mit.edu	37	5	39021212	39021212	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:39021212G>A	ENST00000357387.3	-	3	154	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F	RICTOR_ENST00000296782.5_Missense_Mutation_p.L42F	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	42					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding	p.L42F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ACATTTTGGAGAATCTCTCTT	0.323000													46	186					0	0	0.139131	0	0
PPEF1	5475	broad.mit.edu	37	X	18836203	18836203	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:18836203G>A	ENST00000361511.4	+	16	1935	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	PPEF1_ENST00000544635.1_Missense_Mutation_p.V416M|PPEF1_ENST00000543630.1_Missense_Mutation_p.S371N|PPEF1_ENST00000359763.6_Missense_Mutation_p.V428M|PPEF1_ENST00000349874.5_Missense_Mutation_p.V419M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	481					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.V481M(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AAGAGAGAGAGTGATTTCACG	0.348000													52	75					0	0	0.139131	0	0
ETV1	2115	broad.mit.edu	37	7	13971234	13971234	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:13971234T>A	ENST00000343495.5	-	8	1379	c.641A>T	c.(640-642)cAc>cTc	p.H214L	ETV1_ENST00000405358.4_Missense_Mutation_p.H246L|ETV1_ENST00000403685.1_Missense_Mutation_p.H214L|ETV1_ENST00000420159.2_Missense_Mutation_p.H174L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405192.2_Missense_Mutation_p.H232L|ETV1_ENST00000430479.1_Missense_Mutation_p.H232L|ETV1_ENST00000242066.5_Missense_Mutation_p.H214L|ETV1_ENST00000405218.2_Missense_Mutation_p.H232L|ETV1_ENST00000399357.3_Missense_Mutation_p.H129L|ETV1_ENST00000403527.1_Missense_Mutation_p.H192L			P50549	ETV1_HUMAN	ets variant 1	232					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H192L(1)|p.H232L(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACTGGGTCGTGGTACTCCTG	0.522000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								16	12					0	0	0.038395	0	0
SP7	121340	broad.mit.edu	37	12	53722249	53722249	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:53722249C>G	ENST00000536324.2	-	3	1260	c.977G>C	c.(976-978)tGc>tCc	p.C326S	SP7_ENST00000303846.3_Missense_Mutation_p.C326S|SP7_ENST00000537210.2_Missense_Mutation_p.C308S	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C326S(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GAGCCAGTTGCAGACGAAGGG	0.612000													18	31					0	0	0.038395	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445825	99445825	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:99445825G>T	ENST00000354829.2	+	6	572	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000222382.5_Missense_Mutation_p.V157L|CYP3A43_ENST00000342499.4_Missense_Mutation_p.G19V|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.V157L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000415413.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	157			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.V157L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGATATGTTGGTGAGAAGCCT	0.488000													7	14					1.06961e-07	1.27053e-07	0.038147	1	0
DHDH	27294	broad.mit.edu	37	19	49439303	49439303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:49439303G>A	ENST00000221403.2	+	3	257	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	DHDH_ENST00000523250.1_Intron|DHDH_ENST00000522614.1_Missense_Mutation_p.G73S	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	73					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.G73S(1)		central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GGCCTACATTGGCACCCAGCA	0.682000													3	10					0	0	0.009096	0	0
PDHA2	5161	broad.mit.edu	37	4	96761509	96761509	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:96761509C>A	ENST00000295266.4	+	1	271	c.208C>A	c.(208-210)Cgc>Agc	p.R70S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	70					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R70S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCTGACTGTTCGCCGCATGGA	0.493000													21	19					8.34094e-07	9.58985e-07	0.049695	1	0
GRIN2B	2904	broad.mit.edu	37	12	13717085	13717085	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:13717085G>A	ENST00000279593.3	-	13	3296	c.3087C>T	c.(3085-3087)tcC>tcT	p.S1029S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1029					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1029S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTGCTTGGAGGAGGGGAGGC	0.592000													6	21					0	0	0.029380	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256399	140256399	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:140256399G>A	ENST00000398631.2	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.V448M(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.657000													19	78					0	0	0.049695	0	0
CD300LD	100131439	broad.mit.edu	37	17	72584765	72584765	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:72584765G>A	ENST00000375352.1	-	2	344	c.264C>T	c.(262-264)caC>caT	p.H88H	C17orf77_ENST00000392620.1_Intron	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	88	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.H88H(1)		large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						CGGTGAACACGTGGTTTTTCT	0.428000													76	96					0	0	0.139131	0	0
GUCA1B	2979	broad.mit.edu	37	6	42162358	42162358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:42162358C>A	ENST00000230361.3	-	1	296	c.201G>T	c.(199-201)aaG>aaT	p.K67N		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	67	EF-hand 2.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.K67N(1)		large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			TTACCCCATTCTTGTCGAAGG	0.572000													25	22					1.75199e-13	2.42236e-13	0.125774	1	0
ACOT4	122970	broad.mit.edu	37	14	74061971	74061971	+	Silent	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:74061971G>C	ENST00000326303.4	+	3	1133	c.879G>C	c.(877-879)gtG>gtC	p.V293V		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	293					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	p.V293V(1)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TGGACATTGTGGATATAAGGA	0.507000													28	6					0	0	0.125774	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725216	7725216	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:7725216T>A	ENST00000303635.7	+	9	2816	c.2609T>A	c.(2608-2610)gTg>gAg	p.V870E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.V870E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.V870E(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGCGGACGGGTGTTCATGGTG	0.687000			T	WWTR1	epitheliod hemangioendothelioma								18	24					0	0	0.033300	0	0
KCNB1	3745	broad.mit.edu	37	20	47989929	47989929	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr20:47989929G>T	ENST00000371741.4	-	2	2334	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	723					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.S723Y(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAGATGGAGGACTCTGGGCT	0.572000													28	30					1.75199e-13	2.42236e-13	0.125774	1	0
IKBIP	121457	broad.mit.edu	37	12	99019842	99019842	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:99019842T>C	ENST00000299157.4	-	3	1373	c.1000A>G	c.(1000-1002)Ata>Gta	p.I334V	IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	329					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	p.I334V(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTTAATATGCTATTATCA	0.308000													20	25					0	0	0.049695	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57989697	57989697	+	Silent	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:57989697C>T	ENST00000354947.5	+	4	412	c.396C>T	c.(394-396)agC>agT	p.S132S	PIP4K2C_ENST00000550465.1_Silent_p.S114S|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Silent_p.S132S			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	132	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.S132S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACCCCCCCAGCGAAAGTGAAG	0.493000													7	68					0	0	0.038147	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472973	22472973	+	RNA	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:22472973G>T	ENST00000557788.2	-	0	297																											CTCAGCTTCAGGGAGAACTGG	0.552000													15	168					6.84511e-11	8.86566e-11	0.059317	1	0
RPE65	6121	broad.mit.edu	37	1	68905310	68905310	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:68905310A>G	ENST00000262340.5	-	7	712	c.659T>C	c.(658-660)aTa>aCa	p.I220T		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	220					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.I220T(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TGACTTGCTTATTGGATCTTC	0.378000													43	60					0	0	0.111260	0	0
ACSM5	54988	broad.mit.edu	37	16	20451223	20451223	+	Silent	SNP	A	A	G	rs112747866		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:20451223A>G	ENST00000331849.4	+	13	1785	c.1638A>G	c.(1636-1638)ccA>ccG	p.P546P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	546					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.P546P(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGACTGCTCCATACAAATACC	0.537000													22	41					0	0	0.062417	0	0
RYR3	6263	broad.mit.edu	37	15	33835899	33835899	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:33835899G>T	ENST00000389232.4	+	8	793	c.723G>T	c.(721-723)caG>caT	p.Q241H	RYR3_ENST00000415757.3_Missense_Mutation_p.Q241H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	241	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.Q241H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAGACCAGAATGATTCCC	0.398000													49	92					2.68985e-26	4.41464e-26	0.139131	1	0
TTN	7273	broad.mit.edu	37	2	179553413	179553413	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179553413G>T	ENST00000589042.1	-	126	32412	c.32188C>A	c.(32188-32190)Cgg>Agg	p.R10730R	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.R10413R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.R9486R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10413	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9486R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCGTGCCGCGTGACTTCC	0.388000													16	60					1.02788e-11	1.3558e-11	0.033300	1	0
REG1P	5969	broad.mit.edu	37	2	79364096	79364096	+	RNA	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:79364096G>T	ENST00000444841.1	-	0	285																											GGAGGAAAGTGTGGGAGACAT	0.502000													18	22					1.02788e-11	1.3558e-11	0.033300	1	0
OR12D2	26529	broad.mit.edu	37	6	29364862	29364862	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:29364862G>T	ENST00000383555.2	+	1	447	c.386G>T	c.(385-387)cGc>cTc	p.R129L	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R129L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						AAGCCACTTCGCTACACTGTC	0.512000													15	35					4.3181e-19	6.44716e-19	0.054565	1	0
NLGN1	22871	broad.mit.edu	37	3	173993224	173993224	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:173993224A>T	ENST00000457714.1	+	5	1195	c.766A>T	c.(766-768)Act>Tct	p.T256S	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000401917.3_Missense_Mutation_p.T296S|NLGN1_ENST00000361589.4_Missense_Mutation_p.T256S|NLGN1_ENST00000545397.1_Missense_Mutation_p.T256S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	273					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.T256S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTAAGAATCACTGTTTTTGG	0.428000													43	111					0	0	0.131918	0	0
SPTBN2	6712	broad.mit.edu	37	11	66455339	66455339	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:66455339C>A	ENST00000533211.1	-	34	6832	c.6501_splice	c.e34+1	p.P2167_splice	SPTBN2_ENST00000309996.2_Splice_Site_p.P2167_splice|SPTBN2_ENST00000529997.1_Splice_Site_p.P2167_splice			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2167					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.P2167P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGGAACTCACCGGCCCTTCGG	0.607000													32	35					1.836e-18	2.73177e-18	0.064281	1	0
ZNF75D	7626	broad.mit.edu	37	X	134427710	134427710	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:134427710C>A	ENST00000370766.3	-	3	3066	c.357G>T	c.(355-357)caG>caT	p.Q119H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.Q119H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	119	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q119H(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGACCAGAGCCTGTTTGACAT	0.463000													62	55					1.41401e-22	2.22719e-22	0.139131	1	0
ABCA13	154664	broad.mit.edu	37	7	48337984	48337984	+	Missense_Mutation	SNP	T	T	C	rs117649711	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:48337984T>C	ENST00000435803.1	+	23	9245	c.9221T>C	c.(9220-9222)aTg>aCg	p.M3074T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3074					transport	integral to membrane	ATP binding|ATPase activity	p.M3019T(1)|p.M3074T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAGATTTGATGAAGAATATC	0.328000													10	14					0	0	0.058154	0	0
ITGAX	3687	broad.mit.edu	37	16	31372509	31372509	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:31372509G>A	ENST00000268296.4	+	9	1108	c.987G>A	c.(985-987)ctG>ctA	p.L329L	ITGAX_ENST00000562522.1_Silent_p.L329L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	329	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.L329L(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						AAAACCAACTGAAGGAGAAGA	0.453000													51	79					0	0	0.139131	0	0
CNTN5	53942	broad.mit.edu	37	11	100061936	100061936	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:100061936G>A	ENST00000524871.1	+	14	1949	c.1659G>A	c.(1657-1659)ggG>ggA	p.G553G	CNTN5_ENST00000527185.1_Silent_p.G553G|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Silent_p.G479G|CNTN5_ENST00000528682.1_Silent_p.G553G|CNTN5_ENST00000279463.3_Silent_p.G553G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	553	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.G553G(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTGCCGAGGGGAAAACGTCT	0.403000													6	15					0	0	0.029380	0	0
GCKR	2646	broad.mit.edu	37	2	27726407	27726407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:27726407C>A	ENST00000264717.2	+	9	734	c.671C>A	c.(670-672)tCa>tAa	p.S224*	GCKR_ENST00000424318.2_Nonsense_Mutation_p.S34*	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	224	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.S224*(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACTGGAGTTCAACATTCCGA	0.493000													11	17					5.16669e-11	6.71201e-11	0.080935	1	0
PARP8	79668	broad.mit.edu	37	5	50056133	50056133	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:50056133A>T	ENST00000281631.5	+	5	440	c.282A>T	c.(280-282)agA>agT	p.R94S	PARP8_ENST00000514067.2_Missense_Mutation_p.R94S|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.R94S|PARP8_ENST00000503750.2_Missense_Mutation_p.R94S|PARP8_ENST00000505554.1_Missense_Mutation_p.R73S|PARP8_ENST00000511363.2_Intron	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	94						intracellular	NAD+ ADP-ribosyltransferase activity	p.R94S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAGAATTAAGAAAAACAAATG	0.249000													7	5					0	0	0.029380	0	0
PRICKLE3	4007	broad.mit.edu	37	X	49034397	49034397	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:49034397G>T	ENST00000376317.3	-	7	994	c.900C>A	c.(898-900)tgC>tgA	p.C300*	PRICKLE3_ENST00000540849.1_Nonsense_Mutation_p.C232*|PRICKLE3_ENST00000536904.1_Nonsense_Mutation_p.C219*|PRICKLE3_ENST00000538114.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	300	LIM zinc-binding 2.						protein binding|zinc ion binding	p.C300*(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CGTAGCAGGCGCAGCAGTGGG	0.617000													14	25					0.00244969	0.00256294	0.119110	1	0
PALLD	23022	broad.mit.edu	37	4	169842780	169842780	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:169842780G>T	ENST00000335742.7	+	18	3778	c.2421G>T	c.(2419-2421)ggG>ggT	p.G807G	PALLD_ENST00000261509.6_Silent_p.G965G|PALLD_ENST00000507735.1_Silent_p.G478G|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Silent_p.G982G|PALLD_ENST00000512127.1_Silent_p.G583G			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1189	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.G807G(1)|p.G965G(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTGAGAACGGGGTGCACTCTC	0.537000									Pancreatic Cancer, Familial Clustering of				13	14					2.27111e-07	2.6394e-07	0.093190	1	0
ZNF43	7594	broad.mit.edu	37	19	21992461	21992461	+	Silent	SNP	C	C	T	rs147543020		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:21992461C>T	ENST00000594012.1	-	7	874	c.360G>A	c.(358-360)gtG>gtA	p.V120V	ZNF43_ENST00000354959.4_Silent_p.V126V|ZNF43_ENST00000598381.1_Silent_p.V120V|ZNF43_ENST00000595461.1_Silent_p.V120V	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V126V(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTCCTCTGTGCACCTTACACT	0.323000													31	58					0	0	0.059317	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789819	26789819	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr10:26789819G>T	ENST00000376236.4	+	5	687	c.232G>T	c.(232-234)Gct>Tct	p.A78S	APBB1IP_ENST00000356785.4_Missense_Mutation_p.A78S	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	78					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.A78S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CATAAGTGAGGCTGAGCAGAG	0.438000													35	40					6.53348e-20	9.82306e-20	0.064281	1	0
TTN	7273	broad.mit.edu	37	2	179437609	179437609	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179437609G>T	ENST00000589042.1	-	326	73474	c.73250C>A	c.(73249-73251)cCa>cAa	p.P24417Q	TTN_ENST00000591111.1_Missense_Mutation_p.P22776Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15544Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15352Q|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15477Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21849Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22776	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P15352K(1)|p.P15477K(1)|p.P21849K(1)|p.P15544K(1)|p.P21847K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCTTTGGAGTTCCAGG	0.473000													15	18					4.7546e-09	5.92603e-09	0.146539	1	0
MSTN	2660	broad.mit.edu	37	2	190926980	190926980	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:190926980T>A	ENST00000260950.4	-	1	475	c.343A>T	c.(343-345)Acg>Tcg	p.T115S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	115					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.T115S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATTGTTTCCGTTGTAGCGTGA	0.438000													21	78					0	0	0.062417	0	0
NAA60	79903	broad.mit.edu	37	16	3533373	3533373	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:3533373A>T	ENST00000407558.4	+	6	651	c.348A>T	c.(346-348)ttA>ttT	p.L116F	NAA60_ENST00000424546.2_Missense_Mutation_p.L123F|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.L116F|NAA60_ENST00000360862.5_Missense_Mutation_p.L51F|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000577013.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.L116F|LA16c-306E5.3_ENST00000574423.2_RNA|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000575076.1_Missense_Mutation_p.L116F|NAA60_ENST00000573580.1_Missense_Mutation_p.L51F	NM_001083601.1	NP_001077070.1	Q9H7X0	NAT15_HUMAN	N(alpha)-acetyltransferase 60, NatF catalytic subunit	116	N-acetyltransferase.						N-acetyltransferase activity	p.L116F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GTTCCCTCTTACTTGAAAGTT	0.488000													3	13					0	0	0.115264	0	0
DIP2A	23181	broad.mit.edu	37	21	47970495	47970495	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:47970495G>T	ENST00000318711.7	+	23	2863	c.2680G>T	c.(2680-2682)Gcc>Tcc	p.A894S	DIP2A_ENST00000417564.2_Missense_Mutation_p.A893S|DIP2A_ENST00000400274.1_Missense_Mutation_p.A889S|DIP2A_ENST00000427143.2_Missense_Mutation_p.A829S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	893					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.A894S(1)|p.A893S(1)|p.A829S(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GTACTGTCTGGCCCTGGTTCC	0.577000													13	22					1.5842e-08	1.94076e-08	0.105934	1	0
LAMA4	3910	broad.mit.edu	37	6	112513053	112513053	+	Splice_Site	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:112513053C>A	ENST00000230538.7	-	6	901		c.e6-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site|LAMA4_ENST00000524032.1_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.?(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGGAGCACATCTGAAGAGGAA	0.363000													12	21					0.000151284	0.000164274	0.105934	1	0
PRRC2B	84726	broad.mit.edu	37	9	134351524	134351524	+	Silent	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:134351524A>G	ENST00000357304.4	+	15	4063	c.4008A>G	c.(4006-4008)gcA>gcG	p.A1336A	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1336							protein binding	p.A1336A(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACCTGCTGGCAGGTCAGTGGC	0.677000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	9					0	0	0.043863	0	0
MUC17	140453	broad.mit.edu	37	7	100675733	100675733	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:100675733G>T	ENST00000306151.4	+	3	1100	c.1036G>T	c.(1036-1038)Gtt>Ttt	p.V346F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	346	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.V346F(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCATGCCGGTTGCCACTTC	0.483000													30	98					6.04164e-23	9.58637e-23	0.045705	1	0
SPAG9	9043	broad.mit.edu	37	17	49073994	49073994	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:49073994C>T	ENST00000262013.7	-	16	2108	c.1900G>A	c.(1900-1902)Gca>Aca	p.A634T	SPAG9_ENST00000510283.1_Missense_Mutation_p.A477T|SPAG9_ENST00000505279.1_Missense_Mutation_p.A624T|SPAG9_ENST00000357122.4_Missense_Mutation_p.A620T	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	634					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.A620T(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGAACATGTGCTTTTACCTGA	0.423000													12	38					0	0	0.080935	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24533937	24533937	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:24533937G>T	ENST00000357578.3	+	10	1750	c.1605G>T	c.(1603-1605)ttG>ttT	p.L535F	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.L447F|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.L548F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.L507F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	535					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	p.L548F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	ACGGGGGCTTGTAGGATTCTT	0.398000													22	45					6.44725e-10	8.22646e-10	0.069288	1	0
NOTCH1	4851	broad.mit.edu	37	9	139413252	139413252	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:139413252T>C	ENST00000277541.6	-	6	965	c.890A>G	c.(889-891)gAc>gGc	p.D297G		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	297	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D297G(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCACTCGTCCACATCCTC	0.637000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			18	1					0	0	0.043863	0	0
BAGE2	85319	broad.mit.edu	37	21	11049614	11049614	+	RNA	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr21:11049614T>A	ENST00000470054.1	-	0	494									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGTTTGCATCTTCCTTCGCTA	0.373000													8	126					0	0	0.069234	0	0
GAP43	2596	broad.mit.edu	37	3	115395236	115395236	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:115395236G>C	ENST00000393780.3	+	3	983	c.515G>C	c.(514-516)gGc>gCc	p.G172A	GAP43_ENST00000305124.6_Missense_Mutation_p.G136A	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.G136A(1)|p.G172A(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAGAAGGCCGGCTCAGCTGAG	0.582000													12	28					0	0	0.105934	0	0
RAI2	10742	broad.mit.edu	37	X	17819005	17819005	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:17819005C>T	ENST00000545871.1	-	3	1586	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	RAI2_ENST00000415486.3_Missense_Mutation_p.E326K|RAI2_ENST00000360011.1_Missense_Mutation_p.E376K|RAI2_ENST00000451717.1_Missense_Mutation_p.E376K|RAI2_ENST00000331511.1_Missense_Mutation_p.E376K	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	376					embryo development			p.E376K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGAAGTTTCTCCATCACTGTG	0.557000													24	43					0	0	0.076483	0	0
REG3G	130120	broad.mit.edu	37	2	79255397	79255397	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:79255397G>C	ENST00000272324.5	+	6	707	c.523G>C	c.(523-525)Gac>Cac	p.D175H	REG3G_ENST00000409471.1_Missense_Mutation_p.D129H|REG3G_ENST00000393897.2_Missense_Mutation_p.D175H	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	175					acute-phase response	extracellular region	sugar binding	p.D175H(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAAGTTCAAGGACTAGGGCAG	0.493000													19	31					0	0	0.043863	0	0
IGLV3-16	28799	broad.mit.edu	37	22	23090124	23090124	+	RNA	SNP	T	T	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr22:23090124T>G	ENST00000390311.2	+	0	101																											AGGCCTCCTATGAGCTGACAC	0.542000													44	38					0	0	0.139131	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449837	85449837	+	Silent	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr12:85449837A>T	ENST00000393217.2	+	8	1327	c.1266A>T	c.(1264-1266)atA>atT	p.I422I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	422								p.I422I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGGGTGATATAGCCAAAAATC	0.323000													49	84					0	0	0.139131	0	0
SLC13A5	284111	broad.mit.edu	37	17	6610448	6610448	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:6610448G>A	ENST00000433363.2	-	2	363	c.130C>T	c.(130-132)Ctc>Ttc	p.L44F	SLC13A5_ENST00000381074.4_Intron|SLC13A5_ENST00000293800.6_Missense_Mutation_p.L44F|SLC13A5_ENST00000573648.1_Missense_Mutation_p.L44F	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	44						integral to membrane	citrate transmembrane transporter activity	p.L44F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						ATGGCCATGAGGATGATGACG	0.572000													3	12					0	0	0.009096	0	0
GRIN2C	2905	broad.mit.edu	37	17	72846704	72846704	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:72846704T>A	ENST00000293190.5	-	5	1462	c.1316A>T	c.(1315-1317)cAc>cTc	p.H439L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.H439L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	439					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	p.H439L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCTGAAGGTGTGGTTGCTCTG	0.642000													35	42					0	0	0.069456	0	0
MICAL2	9645	broad.mit.edu	37	11	12263846	12263846	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:12263846G>A	ENST00000256194.4	+	19	2711	c.2423G>A	c.(2422-2424)aGa>aAa	p.R808K	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.R808K|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	808						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R808K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGACCTTGGAGAGCCAGAGCC	0.607000													9	17					0	0	0.080935	0	0
ENGASE	64772	broad.mit.edu	37	17	77078118	77078118	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:77078118G>T	ENST00000579016.1	+	7	1011	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V	ENGASE_ENST00000539857.2_Silent_p.V151V|ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	337	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.V337V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGGGAACGTGGTCGGAGGCC	0.637000													49	51					1.19451e-25	1.93098e-25	0.139131	1	0
ASH1L	55870	broad.mit.edu	37	1	155451984	155451984	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:155451984G>A	ENST00000368346.3	-	3	1316	c.677C>T	c.(676-678)aCc>aTc	p.T226I	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Missense_Mutation_p.T226I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	226					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T226I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGACAGGTAGCAATCAG	0.448000													50	115					0	0	0.139131	0	0
CSMD1	64478	broad.mit.edu	37	8	2944645	2944645	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:2944645C>A	ENST00000520002.1	-	50	8006	c.7451G>T	c.(7450-7452)tGg>tTg	p.W2484L	CSMD1_ENST00000542608.1_Missense_Mutation_p.W2483L|CSMD1_ENST00000537824.1_Missense_Mutation_p.W2483L|CSMD1_ENST00000400186.3_Missense_Mutation_p.W2484L|CSMD1_ENST00000602723.1_Missense_Mutation_p.W2484L|CSMD1_ENST00000602557.1_Missense_Mutation_p.W2484L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2484	Sushi 14.					integral to membrane		p.W2483L(1)|p.W2212L(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGGAGTCCCACTGGTACAT	0.478000													31	7					5.6714e-07	6.53808e-07	0.045705	1	0
MGA	23269	broad.mit.edu	37	15	42005461	42005461	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:42005461G>T	ENST00000219905.7	+	9	3378	c.3197G>T	c.(3196-3198)cGc>cTc	p.R1066L	MGA_ENST00000389936.4_Missense_Mutation_p.R1066L|MGA_ENST00000545763.1_Missense_Mutation_p.R1066L|MGA_ENST00000570161.1_Missense_Mutation_p.R1066L|MGA_ENST00000566586.1_Missense_Mutation_p.R1066L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1066						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R1066L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTGGAGAAGCGCCAACCTGCT	0.448000													32	33					5.90632e-09	7.34023e-09	0.050027	1	0
ATP2C1	27032	broad.mit.edu	37	3	130735084	130735084	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130735084G>T	ENST00000507488.2	+	28	3135	c.2765G>T	c.(2764-2766)tGt>tTt	p.C922F	ASTE1_ENST00000514044.1_Missense_Mutation_p.T538K|ATP2C1_ENST00000533801.2_Missense_Mutation_p.C943F|ATP2C1_ENST00000513801.1_Missense_Mutation_p.C922F|ATP2C1_ENST00000504381.1_Missense_Mutation_p.C893F|ATP2C1_ENST00000359644.3_Missense_Mutation_p.C948F|ASTE1_ENST00000264992.3_Missense_Mutation_p.T538K|ATP2C1_ENST00000393221.4_Missense_Mutation_p.C972F|ATP2C1_ENST00000328560.8_3'UTR|ATP2C1_ENST00000422190.2_Missense_Mutation_p.C938F	NM_001199180.1	NP_001186109.1	P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	0					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	p.T538K(1)|p.C948F(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GATGTGAGCTGTGTCTAAGTC	0.527000									Hailey-Hailey disease				34	99					9.17885e-22	1.41975e-21	0.059317	1	0
HOXB9	3219	broad.mit.edu	37	17	46700481	46700481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:46700481G>C	ENST00000311177.5	-	2	741	c.534C>G	c.(532-534)aaC>aaG	p.N178K	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Missense_Mutation_p.L99V	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	178					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N178K(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CGTGCAGCCAGTTGGCGGAGG	0.542000													47	56					0	0	0.139131	0	0
OR1N2	138882	broad.mit.edu	37	9	125316138	125316138	+	Silent	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr9:125316138G>A	ENST00000373688.2	+	1	748	c.690G>A	c.(688-690)ctG>ctA	p.L230L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L230L(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CCCTCCTGCTGATCGTCTTCT	0.517000													102	22					0	0	0.139131	0	0
TTN	7273	broad.mit.edu	37	2	179437610	179437610	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:179437610G>T	ENST00000589042.1	-	326	73473	c.73249C>A	c.(73249-73251)Cca>Aca	p.P24417T	TTN_ENST00000591111.1_Missense_Mutation_p.P22776T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15544T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15352T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15477T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21849T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22776	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P15352K(1)|p.P15477K(1)|p.P21849K(1)|p.P15544K(1)|p.P21847K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCCTTTGGAGTTCCAGGA	0.478000													15	17					4.7546e-09	5.92603e-09	0.146539	1	0
OR2L2	26246	broad.mit.edu	37	1	248201826	248201826	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:248201826A>G	ENST00000366479.2	+	1	353	c.257A>G	c.(256-258)tAt>tGt	p.Y86C	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y86C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			gattttctgtatggaaacaag	0.418000													105	269					0	0	0.139131	0	0
OR6K2	81448	broad.mit.edu	37	1	158670076	158670076	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:158670076G>T	ENST00000359610.2	-	1	410	c.367C>A	c.(367-369)Ctg>Atg	p.L123M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L123M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CATATGGCCAGGTAGTGGTCA	0.473000													32	60					1.99505e-19	2.9891e-19	0.050027	1	0
ADAM23	8745	broad.mit.edu	37	2	207482345	207482345	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:207482345C>A	ENST00000374416.1	+	25	2454	c.2402C>A	c.(2401-2403)cCa>cAa	p.P801Q	ADAM23_ENST00000374415.3_Silent_p.P831P|ADAM23_ENST00000264377.3_Silent_p.P831P			O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	0					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P831P(1)|p.P801Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGCAAGGCCCCATCTGAATCA	0.453000													9	16					3.86212e-05	4.28018e-05	0.069234	1	0
PLG	5340	broad.mit.edu	37	6	161134032	161134032	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:161134032C>A	ENST00000308192.9	+	5	485	c.422C>A	c.(421-423)aCa>aAa	p.T141K	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	141	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.T141K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCACCTGCTACACACCCCTCA	0.483000													56	52					2.30037e-20	3.48295e-20	0.139131	1	0
IGHV4-4	28401	broad.mit.edu	37	14	106478163	106478163	+	RNA	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:106478163G>T	ENST00000390596.2	-	0	358																											CTCAGCTTCAGGGAGAACTGG	0.567000													4	48					0.014758	0.0152181	0.014758	1	0
RASGRF2	5924	broad.mit.edu	37	5	80388641	80388641	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:80388641C>T	ENST00000265080.4	+	10	1479	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	471	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.S471F(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CAAGTACCTTCCGTTGAGAGG	0.373000													41	69					0	0	0.098360	0	0
MUC16	94025	broad.mit.edu	37	19	9063480	9063480	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:9063480G>C	ENST00000397910.4	-	3	24169	c.23966C>G	c.(23965-23967)aCa>aGa	p.T7989R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7991	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7989R(2)|p.T3622R(1)		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						CTCTGGTAATGTGGAGGAAAC	0.468000													12	4					0	0	0.080935	0	0
RYR2	6262	broad.mit.edu	37	1	237947531	237947531	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:237947531A>G	ENST00000366574.2	+	90	12836	c.12519A>G	c.(12517-12519)atA>atG	p.I4173M	RYR2_ENST00000360064.6_Missense_Mutation_p.I4179M|RYR2_ENST00000542537.1_Missense_Mutation_p.I4157M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4173					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4171M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACAGTTCATATTTGACGTGG	0.502000													34	85					0	0	0.059317	0	0
GNAT1	2779	broad.mit.edu	37	3	50230772	50230772	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:50230772A>G	ENST00000232461.3	+	3	338	c.224A>G	c.(223-225)cAg>cGg	p.Q75R	GNAT1_ENST00000433068.1_Missense_Mutation_p.Q75R	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	75					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity	p.Q75R(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AACACGTTGCAGTCCATCCTG	0.602000													20	6					0	0	0.049695	0	0
CD109	135228	broad.mit.edu	37	6	74528210	74528210	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:74528210G>T	ENST00000437994.2	+	31	4391	c.3960G>T	c.(3958-3960)gtG>gtT	p.V1320V	CD109_ENST00000422508.2_Silent_p.V1260V|CD109_ENST00000287097.5_Silent_p.V1337V	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1337						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.V1337V(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCGAGACAGTGAAGAAAGTGG	0.403000													17	23					1.02788e-11	1.3558e-11	0.033300	1	0
NBEA	26960	broad.mit.edu	37	13	36167465	36167465	+	Splice_Site	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:36167465G>A	ENST00000400445.3	+	47	7711	c.7176_splice	c.e47-1	p.E2393_splice	NBEA_ENST00000540320.1_Splice_Site_p.E2393_splice|NBEA_ENST00000310336.4_Splice_Site_p.E2393_splice|NBEA_ENST00000379939.2_Splice_Site_p.E2390_splice|NBEA_ENST00000537702.1_Splice_Site_p.E186_splice|NBEA_ENST00000379922.3_5'UTR	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2393	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.E2393K(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTGCTTAGGAACCTTTCAC	0.408000													32	5					0	0	0.050027	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472974	22472974	+	RNA	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr15:22472974G>T	ENST00000557788.2	-	0	296																											TCAGCTTCAGGGAGAACTGGT	0.547000													15	164					6.90743e-12	9.19564e-12	0.064281	1	0
SF3B4	10262	broad.mit.edu	37	1	149898282	149898282	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:149898282C>A	ENST00000271628.8	-	3	1276	c.692G>T	c.(691-693)gGg>gTg	p.G231V		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	231						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.G231V(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGAGGAAGCCCAGACCCCAA	0.522000													44	23					5.34276e-22	8.32386e-22	0.139131	1	0
GCKR	2646	broad.mit.edu	37	2	27726409	27726409	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:27726409A>T	ENST00000264717.2	+	9	736	c.673A>T	c.(673-675)Aca>Tca	p.T225S	GCKR_ENST00000424318.2_Missense_Mutation_p.T35S	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	225	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	p.T225S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGGAGTTCAACATTCCGACA	0.498000													11	16					0	0	0.080935	0	0
ASTL	431705	broad.mit.edu	37	2	96789882	96789882	+	Missense_Mutation	SNP	C	C	A	rs138508296	by1000genomes	TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr2:96789882C>A	ENST00000342380.2	-	9	1002	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	335					proteolysis		metalloendopeptidase activity|zinc ion binding	p.V335F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672000													22	33					7.41877e-09	9.19329e-09	0.062417	1	0
CDH8	1006	broad.mit.edu	37	16	61689397	61689397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr16:61689397A>T	ENST00000577390.1	-	11	2837	c.1883T>A	c.(1882-1884)tTa>tAa	p.L628*	CDH8_ENST00000577730.1_Nonsense_Mutation_p.L628*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.L628*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	628					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L628*(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATGCATGCTAATATGGCAAT	0.438000													23	37					0	0	0.091800	0	0
UPF3B	65109	broad.mit.edu	37	X	118972013	118972013	+	Splice_Site	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:118972013G>T	ENST00000276201.2	-	10	1078	c.1007_splice	c.e10-1	p.P337_splice	UPF3B_ENST00000345865.2_Splice_Site_p.P324_splice	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	337	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.P337T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TCATCTTCAGGTCTGCATGAA	0.473000													64	79					5.10508e-28	8.44302e-28	0.139131	1	0
LARS	51520	broad.mit.edu	37	5	145523006	145523006	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr5:145523006G>A	ENST00000394434.2	-	19	2012	c.1846C>T	c.(1846-1848)Cat>Tat	p.H616Y	LARS_ENST00000510191.1_Missense_Mutation_p.H562Y|LARS_ENST00000545646.1_Missense_Mutation_p.H570Y|LARS_ENST00000274562.9_Missense_Mutation_p.H589Y	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	616					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding	p.H616Y(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GCCTGTCCATGCAAGTTACCC	0.433000													72	123					0	0	0.139131	0	0
WAS	7454	broad.mit.edu	37	X	48547174	48547174	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:48547174C>A	ENST00000376701.4	+	10	1132	c.1057C>A	c.(1057-1059)Cca>Aca	p.P353T		NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	353	Poly-Pro.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	p.P353T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGCCCCACCCCCACCAACACC	0.692000			"""Mis, N, F, S"""			lymphoma							3	2					6.4e-05	7.02196e-05	0.115264	1	0
MATK	4145	broad.mit.edu	37	19	3779791	3779791	+	Silent	SNP	G	G	T			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr19:3779791G>T	ENST00000310132.6	-	9	1145	c.747C>A	c.(745-747)gtC>gtA	p.V249V	MATK_ENST00000395045.2_Silent_p.V250V|MATK_ENST00000585778.1_Silent_p.V249V|MATK_ENST00000395040.2_Silent_p.V208V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	249	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V249V(1)|p.V250V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCTGCAGGACAGCTGGGG	0.622000													17	4					0.00074312	0.000787048	0.038395	1	0
MTF2	22823	broad.mit.edu	37	1	93602318	93602327	+	Frame_Shift_Del	DEL	AGAGCACTCC	AGAGCACTCC	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:93602318_93602327delAGAGCACTCC	ENST00000370298.4	+	15	1805_1814	c.1516_1525delAGAGCACTCC	c.(1516-1527)agfs	p.RALQ506fs	MTF2_ENST00000540243.1_Frame_Shift_Del_p.RALQ404fs|MTF2_ENST00000370303.4_Frame_Shift_Del_p.RALQ449fs|MTF2_ENST00000545708.1_Frame_Shift_Del_p.RALQ404fs|MTF2_ENST00000471953.1_3'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384.1	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	506						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TCTTCCAAGAAGAGCACTCCAGACTCAGAA	0.410													8	117	---	---	---	---					
STRIP1	85369	broad.mit.edu	37	1	110590442	110590442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr1:110590442delA	ENST00000369795.3	+	15	1634	c.1612delA	c.(1612-1614)aafs	p.K538fs	STRIP1_ENST00000369796.1_Frame_Shift_Del_p.K443fs|STRIP1_ENST00000461054.1_3'UTR	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CTCAAAAGCCAAAACAGACTC	0.502													2	4	---	---	---	---					
COL6A5	256076	broad.mit.edu	37	3	130095082	130095082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:130095082delC	ENST00000265379.6	+	3	564	c.70delC	c.(70-72)cafs	p.P24fs	COL6A5_ENST00000432398.2_Frame_Shift_Del_p.P24fs			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	24	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGATAGGGCCAGGCCCTGT	0.388													28	53	---	---	---	---					
BCHE	590	broad.mit.edu	37	3	165491179	165491180	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:165491179_165491180delCA	ENST00000264381.3	-	4	1965_1966	c.1799_1800delTG	c.(1798-1800)gfs	p.V600fs	BCHE_ENST00000540653.1_Frame_Shift_Del_p.V62fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	600					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	ATTAGAGACCCACACAACTTTC	0.342													15	39	---	---	---	---					
NDUFB5	4711	broad.mit.edu	37	3	179322663	179322663	+	Frame_Shift_Del	DEL	C	C	-	rs2271840		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr3:179322663delC	ENST00000493866.1	+	1	85	c.60delC	c.(58-60)ggfs	p.G20fs	NDUFB5_ENST00000259037.3_Frame_Shift_Del_p.G20fs|NDUFB5_ENST00000472629.1_Frame_Shift_Del_p.G20fs	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	20					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	CTCTGTCTGGCCGGCCCCTTG	0.652													15	31	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22749429	22749429	+	RNA	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr4:22749429delA	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATTATCCTGAAGTTGTCAAG	0.428													13	30	---	---	---	---					
DNAH8	1769	broad.mit.edu	37	6	38743667	38743667	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr6:38743667delA	ENST00000359357.3	+	11	1505	c.1251delA	c.(1249-1251)ccfs	p.P417fs	DNAH8_ENST00000449981.2_Frame_Shift_Del_p.P634fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.P417fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTGGATCCAAGAAGGACAG	0.303													63	105	---	---	---	---					
DGKB	1607	broad.mit.edu	37	7	14216483	14216484	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:14216483_14216484insA	ENST00000403951.2	-	25	2706_2707	c.2287_2288insT	c.(2287-2289)gatfs	p.D763fs	DGKB_ENST00000258767.5_Frame_Shift_Ins_p.D763fs|DGKB_ENST00000406247.3_Frame_Shift_Ins_p.D763fs|DGKB_ENST00000407950.1_Frame_Shift_Ins_p.D755fs|DGKB_ENST00000399322.3_Frame_Shift_Ins_p.D763fs|DGKB_ENST00000444700.2_Frame_Shift_Ins_p.D744fs|DGKB_ENST00000402815.1_Frame_Shift_Ins_p.D762fs			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	763					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GGTCTGCATCCATGGCTCCCCA	0.381													80	90	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38304888	38304889	+	RNA	INS	-	-	A			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr7:38304888_38304889insA	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					ATACTGAAAGGAAAAAATGCAG	0.302													11	9	---	---	---	---					
CNBD1	168975	broad.mit.edu	37	8	88296927	88296927	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr8:88296927delG	ENST00000518476.1	+	7	844	c.793delG	c.(793-795)ggfs	p.G265fs	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	265										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GAGTACCTTTGGGACTCTGGA	0.393													7	9	---	---	---	---					
COX8A	1351	broad.mit.edu	37	11	63743756	63743764	+	In_Frame_Del	DEL	CCTGTCACA	CCTGTCACA	-	rs11550240		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr11:63743756_63743764delCCTGTCACA	ENST00000314133.3	+	2	248_256	c.174_182delCCTGTCACA	c.(172-183)atc>at	p.ILSH58del	AP000721.4_ENST00000535431.1_Intron	NM_004074.2	NP_004065.1	P10176	COX8A_HUMAN	cytochrome c oxidase subunit VIIIA (ubiquitous)	58					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										CGGGCTGGATCCTGTCACACCTGGAGACC	0.579													48	87	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				RP11-64P12.8_ENST00000606031.1_RNA																							cgctattgctccccacccatc	0.537													5	6	---	---	---	---					
TRAJ23	28732	broad.mit.edu	37	14	22989437	22989437	+	RNA	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr14:22989437delG	ENST00000390514.1	+	0	44																											GACAGGGAACGGAGTTATCTG	0.388													36	13	---	---	---	---					
NT5M	56953	broad.mit.edu	37	17	17207098	17207098	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:17207098delG	ENST00000389022.4	+	1	450	c.234delG	c.(232-234)tcfs	p.S78fs		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	78					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TCTGGGTGTCGGAGCAGTACG	0.736													2	4	---	---	---	---					
SUPT6H	6830	broad.mit.edu	37	17	27015143	27015143	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chr17:27015143delG	ENST00000314616.6	+	24	3324	c.3041delG	c.(3040-3042)cgfs	p.R1014fs	SUPT6H_ENST00000347486.4_Frame_Shift_Del_p.R1014fs	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1014					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTCGAGAGCCGGACCCAGCTG	0.607													40	50	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-50-5931-01A-11D-1753-08	TCGA-50-5931-11A-01D-1753-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	290847c6-c9d4-4a16-a70f-0488e3718f35	d65ae314-41bc-4273-aafb-507f31c1fa0a	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	3	---	---	---	---					
