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
TBX18	9096	broad.mit.edu	37	6	85446987	85446987	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:85446987G>T	ENST00000369663.5	-	8	1577	c.1240C>A	c.(1240-1242)Cct>Act	p.P414T	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	414					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P414N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TAGTCAGCAGGGGCCAGACTA	0.592000													19	66					8.10497e-08	1.09323e-07	0.010504	1	0
LRRC30	339291	broad.mit.edu	37	18	7231306	7231306	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:7231306C>T	ENST00000383467.2	+	1	184	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	57								p.T57M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCCTGGTCACGAGAGGAATG	0.602000													4	81					0	0	0.009096	0	0
MIR498	574460	broad.mit.edu	37	19	54177546	54177546	+	RNA	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:54177546C>A	ENST00000385134.1	+	0	96					NR_030182.1																						TTGAAGCTCACAGTTTGAGAG	0.433000													16	87					4.7546e-09	6.69879e-09	0.004007	1	0
CSMD1	64478	broad.mit.edu	37	8	3087561	3087561	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:3087561C>A	ENST00000602557.1	-	28	4904		c.e28+1		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000523387.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral to membrane		p.?(2)		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)		TTGTCTGATACCTATGCATGT	0.413000													4	74					2.56e-06	3.21231e-06	0.009096	1	0
ZFC3H1	196441	broad.mit.edu	37	12	72057219	72057219	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:72057219G>A	ENST00000378743.3	-	1	530	c.172C>T	c.(172-174)Cct>Tct	p.P58S	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P58S|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P58S	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	58	Ser-rich.				RNA processing	intracellular	metal ion binding	p.P58S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCGAGTGAGGAGGCCTTCGC	0.632000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	83					0	0	0.009096	0	0
ZNFX1	57169	broad.mit.edu	37	20	47888037	47888037	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:47888037C>T	ENST00000396105.1	-	3	558	c.312G>A	c.(310-312)agG>agA	p.R104R	ZNFX1_ENST00000371754.4_Silent_p.R104R|ZNFX1_ENST00000371752.1_Silent_p.R104R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	104							metal ion binding	p.R104R(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTTCTCCACCTGGTGTCAT	0.572000													54	285					0	0	0.003610	0	0
ARPP21	10777	broad.mit.edu	37	3	35785456	35785456	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:35785456A>T	ENST00000187397.4	+	18	2487	c.2032_splice	c.e18+1	p.A677_splice	ARPP21_ENST00000337271.5_Splice_Site_p.A658_splice|ARPP21_ENST00000458225.1_Splice_Site_p.A678_splice|ARPP21_ENST00000417925.1_Splice_Site_p.A678_splice|ARPP21_ENST00000444190.1_Splice_Site_p.A658_splice	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	677	Gln-rich.					cytoplasm	nucleic acid binding	p.A677A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CACAGCAAGCAGGTACTTGGA	0.498000													6	93					0	0	0.001168	0	0
KRT2	3849	broad.mit.edu	37	12	53041528	53041528	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53041528G>A	ENST00000309680.3	-	6	1255	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	412	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.H412Y(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)		TTCTTCACATGTGCGATCTCC	0.587000													5	26					0	0	0.001168	0	0
RIBC1	158787	broad.mit.edu	37	X	53453249	53453249	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:53453249G>C	ENST00000457095.1	+	3	229	c.25G>C	c.(25-27)Gat>Cat	p.D9H	RIBC1_ENST00000414955.2_Missense_Mutation_p.D9H|RIBC1_ENST00000375327.3_Missense_Mutation_p.D9H	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	9								p.D9H(2)		lung(2)	2						ACAGTCAACAGATACCAAGGA	0.502000													3	35					0	0	0.004672	0	0
METTL9	51108	broad.mit.edu	37	16	21636437	21636437	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:21636437G>T	ENST00000358154.3	+	4	1009		c.e4+1		METTL9_ENST00000396014.4_Splice_Site	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9											endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GTGGAAAACGGTAAGTGTGGT	0.423000													11	59					5.16669e-11	7.70574e-11	0.010729	1	0
FAM120C	54954	broad.mit.edu	37	X	54159204	54159204	+	Silent	SNP	T	T	C	rs45611732	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:54159204T>C	ENST00000375180.2	-	9	2039	c.1983A>G	c.(1981-1983)gtA>gtG	p.V661V	FAM120C_ENST00000328235.4_Silent_p.V661V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	661								p.V661V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAACTCCATATACATATTGAC	0.478000													6	25					0	0	0.001984	0	0
SOST	50964	broad.mit.edu	37	17	41832830	41832830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:41832830G>T	ENST00000301691.2	-	2	568	c.522C>A	c.(520-522)caC>caA	p.H174Q		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	174					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	p.H174Q(1)		large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CCGACTGGTTGTGGAAGCGGG	0.736000													7	64					0.000157383	0.000178402	0.003080	1	0
MICAL2	9645	broad.mit.edu	37	11	12265624	12265624	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:12265624C>G	ENST00000256194.4	+	21	3037	c.2749C>G	c.(2749-2751)Cca>Gca	p.P917A	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.P917A|MICAL2_ENST00000537344.1_Intron	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	917						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.P917A(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)		TTCTTCCTCTCCATCAACTGT	0.488000													40	232					0	0	0.013114	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553434	135553434	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:135553434A>C	ENST00000372146.4	+	2	992	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	143					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	p.Q143P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGGTCAGTCAGACTTTCATG	0.478000													6	70					0	0	0.001168	0	0
NCAM1	4684	broad.mit.edu	37	11	113133596	113133596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:113133596C>A	ENST00000533760.1	+	17	2375	c.1776C>A	c.(1774-1776)taC>taA	p.Y592*	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	720	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGCATCCTACACCTTTGTCT	0.423000													12	39					0.00400662	0.00429017	0.004007	1	0
FTHL17	53940	broad.mit.edu	37	X	31089806	31089806	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:31089806G>T	ENST00000359202.3	-	1	364	c.265C>A	c.(265-267)Cca>Aca	p.P89T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	89	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.P89T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGGCACTCTGGCTTCCTGATA	0.607000													4	52					0.00909568	0.00962096	0.009096	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579376	140579376	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140579376A>T	ENST00000354757.3	+	1	29	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		10					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q10L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACTCAGCAGATAAGGCAA	0.507000													21	60					0	0	0.008871	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12853569	12853569	+	Missense_Mutation	SNP	C	C	A	rs138008515		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:12853569C>A	ENST00000332296.7	+	2	296	c.193C>A	c.(193-195)Cct>Act	p.P65T		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	65								p.P65T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGCCTCCCTCTGGGATC	0.552000													35	193					8.69298e-16	1.44514e-15	0.006999	1	0
SLC18A1	6570	broad.mit.edu	37	8	20004891	20004891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:20004891C>A	ENST00000440926.1	-	16	1812	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G416C|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G416C|SLC18A1_ENST00000276373.5_Missense_Mutation_p.G448C	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	448					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	p.G448C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ATGGCACCACCGGTGGATGGA	0.542000													11	37					4.68919e-08	6.38268e-08	0.008291	1	0
OR5H15	403274	broad.mit.edu	37	3	97887750	97887750	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97887750G>A	ENST00000356526.2	+	1	207	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TAGCTTTTGTGGATGCTTGGA	0.398000													36	175					0	0	0.003610	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174274250	174274250	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:174274250G>A	ENST00000251507.4	+	11	1624	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D447N|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.D131N	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	484					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.D484N(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACCCCAGGATGATGAAGCAGA	0.468000													4	65					0	0	0.000602	0	0
VAC14	55697	broad.mit.edu	37	16	70796856	70796856	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:70796856C>A	ENST00000261776.5	-	11	1493	c.1233G>T	c.(1231-1233)acG>acT	p.T411T	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.T411T(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCCCAATGGCCGTGTCACTGA	0.582000													8	43					0.000274275	0.00030527	0.004482	1	0
PPL	5493	broad.mit.edu	37	16	4934045	4934045	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:4934045C>T	ENST00000345988.2	-	22	4700	c.4611G>A	c.(4609-4611)gtG>gtA	p.V1537V	PPL_ENST00000590782.2_Silent_p.V1535V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1537					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.V1537V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGCCGGCTCACCTCGACGT	0.572000													5	93					0	0	0.000602	0	0
ALG10	84920	broad.mit.edu	37	12	34176900	34176900	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:34176900G>A	ENST00000266483.2	+	2	494	c.175G>A	c.(175-177)Gat>Aat	p.D59N	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Missense_Mutation_p.D59N	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	59					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.D59N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTAAAGTGGGATCCCATGAT	0.413000													77	183					0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158623069	158623069	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158623069C>T	ENST00000368148.3	-	22	3363	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	SPTA1_ENST00000368147.3_Silent_p.E1061E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1061					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTACTGGTTCTCAATCTGCT	0.507000													6	212					0	0	0.003080	0	0
FAM217B	63939	broad.mit.edu	37	20	58519045	58519045	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:58519045C>G	ENST00000358293.3	+	5	462	c.47C>G	c.(46-48)tCt>tGt	p.S16C	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.S16C	NM_001190826.1	NP_001177755.1	Q9NTX9	CT177_HUMAN	family with sequence similarity 217, member B	16								p.S16C(1)									TCAAAGAATTCTTCAGGAAAA	0.418000													6	63					0	0	0.001168	0	0
PALD1	27143	broad.mit.edu	37	10	72300921	72300921	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:72300921G>A	ENST00000263563.6	+	16	2240	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1									p.V658M(1)									CACTGGCTTCGTGTTCAGCTG	0.637000													13	90					0	0	0.001855	0	0
WDR89	112840	broad.mit.edu	37	14	64066267	64066267	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:64066267C>A	ENST00000394942.2	-	2	482	c.394G>T	c.(394-396)Gct>Tct	p.A132S	WDR89_ENST00000267522.3_Missense_Mutation_p.A132S	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	132								p.A132S(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TCTGTACCAGCACAAATAATA	0.353000													4	53					0.000602214	0.000659719	0.000602	1	0
OR51M1	390059	broad.mit.edu	37	11	5411240	5411240	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5411240C>G	ENST00000328611.3	+	1	634	c.612C>G	c.(610-612)atC>atG	p.I204M	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	204						integral to membrane	olfactory receptor activity	p.I204M(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACAGATATCACCTTCAATA	0.502000													7	112					0	0	0.001984	0	0
SYNE1	23345	broad.mit.edu	37	6	152545687	152545687	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:152545687C>A	ENST00000367255.5	-	117	22065	c.21464G>T	c.(21463-21465)cGa>cTa	p.R7155L	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7084L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1679L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7155L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7084L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6767L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7155					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R7155L(2)|p.R7084L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGACGGAATCGGGAAAGAGA	0.418000										HNSCC(10;0.0054)			16	48					8.60227e-14	1.36694e-13	0.004007	1	0
ZNF587	84914	broad.mit.edu	37	19	58367546	58367546	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58367546G>C	ENST00000339656.5	+	2	290	c.108G>C	c.(106-108)caG>caC	p.Q36H	ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF587_ENST00000419854.1_5'UTR|ZNF587B_ENST00000316462.4_3'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q36H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		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;0.0264)		GTGAGGCTCAGAGGTGCTTGT	0.498000													6	155					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3235434	3235434	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:3235434G>T	ENST00000217939.6	-	6	6442	c.6288C>A	c.(6286-6288)caC>caA	p.H2096Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2096	Ig-like C2-type 5.					extracellular region		p.H2096Q(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACAAGTTCCCGTGGAGGAACT	0.642000													9	4					1.58986e-06	2.01434e-06	0.008291	1	0
AOC2	314	broad.mit.edu	37	17	40997147	40997147	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:40997147G>A	ENST00000253799.3	+	1	531	c.504G>A	c.(502-504)ctG>ctA	p.L168L	AOC2_ENST00000452774.2_Silent_p.L168L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	168					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.L168L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCCCGGTGCTGAGAGCTGAGT	0.612000													4	61					0	0	0.009096	0	0
ZNF607	84775	broad.mit.edu	37	19	38190116	38190116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:38190116C>A	ENST00000355202.4	-	5	1511	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	ZNF607_ENST00000395835.3_Nonsense_Mutation_p.E305*|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E306*(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAGGGTTTTTCTCCAGTATGA	0.413000													23	118					3.62473e-10	5.28522e-10	0.012319	1	0
GOLGB1	2804	broad.mit.edu	37	3	121417301	121417301	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:121417301T>A	ENST00000393667.3	-	13	2179	c.2069A>T	c.(2068-2070)gAg>gTg	p.E690V	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E685V	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	685					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E685V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTTCCAACTCATCCTGATG	0.343000													11	85					0	0	0.010729	0	0
FOXC2	2303	broad.mit.edu	37	16	86601202	86601202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:86601202C>A	ENST00000320354.4	+	1	346	c.261C>A	c.(259-261)aaC>aaA	p.N87K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	87					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding	p.N87K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCATCCAGAACGCGCCCGAGA	0.612000									Late-onset Hereditary Lymphedema				6	98					3.59834e-05	4.22097e-05	0.001168	1	0
CYP4F8	11283	broad.mit.edu	37	19	15734867	15734867	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:15734867G>T	ENST00000441682.2	+	0	1139							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.E359*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGGTGCAAGAGCTTCTGAA	0.567000													19	70					1.56452e-12	2.42699e-12	0.007413	1	0
SALL2	6297	broad.mit.edu	37	14	21992261	21992261	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:21992261G>A	ENST00000327430.3	-	2	1895	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	SALL2_ENST00000450879.2_Missense_Mutation_p.S397L|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	534							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S534L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTGATGGCTGAGCCCTCACT	0.512000													5	84					0	0	0.000602	0	0
CYP4F12	66002	broad.mit.edu	37	19	15784533	15784533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:15784533G>T	ENST00000550308.1	+	2	574	c.194G>T	c.(193-195)gGc>gTc	p.G65V	CYP4F12_ENST00000324632.9_Missense_Mutation_p.G65V	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12									p.G65V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGTCACCTGGGCCTGGTGAGT	0.572000													7	90					8.12818e-05	9.33534e-05	0.001984	1	0
DYSF	8291	broad.mit.edu	37	2	71829926	71829926	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:71829926C>T	ENST00000258104.3	+	36	4171	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Silent_p.I1329I|DYSF_ENST00000410020.3_Silent_p.I1316I|DYSF_ENST00000409582.3_Silent_p.I1315I|DYSF_ENST00000410041.1_Silent_p.I1316I|DYSF_ENST00000409366.1_Silent_p.I1299I|DYSF_ENST00000394120.2_Silent_p.I1299I|DYSF_ENST00000409651.1_Silent_p.I1330I|DYSF_ENST00000409744.1_Silent_p.I1285I|DYSF_ENST00000429174.2_Silent_p.I1298I|DYSF_ENST00000409762.1_Silent_p.I1315I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1298			I -> V (in MMD1 and LGMD2B).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.I1316I(1)|p.I1298I(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCAAGGATCCTGGATGAGG	0.572000													11	45					0	0	0.004007	0	0
ASB13	79754	broad.mit.edu	37	10	5693200	5693200	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:5693200G>A	ENST00000357700.6	-	3	384	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	120					intracellular signal transduction		protein binding	p.P120S(1)		NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TCGTGCAGGGGGGACGCTGTG	0.632000													34	98					0	0	0.006230	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234851	26234851	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:26234851C>G	ENST00000244534.5	-	1	365	c.311G>C	c.(310-312)gGc>gCc	p.G104A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.G104A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTGAAGGAGCCAGAAGCACC	0.547000													4	178					0	0	0.000602	0	0
REG3G	130120	broad.mit.edu	37	2	79255376	79255376	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:79255376C>T	ENST00000272324.5	+	6	686	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	REG3G_ENST00000409471.1_Missense_Mutation_p.P122S|REG3G_ENST00000393897.2_Missense_Mutation_p.P168S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	168	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P168S(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						TGCAAAGTTACCCTATGTCTG	0.493000													5	102					0	0	0.000602	0	0
RP1L1	94137	broad.mit.edu	37	8	10480731	10480731	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10480731C>A	ENST00000382483.3	-	2	205		c.e2-1		RP1L1_ENST00000329335.3_Splice_Site	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1						intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTCTGGCCGCTGTAACAGGG	0.627000													9	29					5.68852e-11	8.45986e-11	0.004482	1	0
DARC	2532	broad.mit.edu	37	1	159175730	159175730	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:159175730G>T	ENST00000537147.1	+	3	1344	c.501G>T	c.(499-501)ctG>ctT	p.L167L	DARC_ENST00000368121.2_Silent_p.L169L|DARC_ENST00000368122.2_Silent_p.L167L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	167					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.L169L(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GCCTCACCCTGGGGCTCACTG	0.622000													6	21					0.000157383	0.000178402	0.003080	1	0
LIN28B	389421	broad.mit.edu	37	6	105406060	105406060	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:105406060C>A	ENST00000345080.4	+	2	300	c.97C>A	c.(97-99)Cac>Aac	p.H33N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	33	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.H33N(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGGAACTGGCCACTGTAAGTG	0.547000													28	115					0.000184323	0.000208713	0.007291	1	0
STAT5A	6776	broad.mit.edu	37	17	40452733	40452733	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:40452733G>A	ENST00000345506.4	+	9	1476	c.833_splice	c.e9-1	p.W278_splice	STAT5A_ENST00000546010.2_Splice_Site_p.W248_splice|STAT5A_ENST00000590949.1_Splice_Site_p.W278_splice|STAT5A_ENST00000452307.2_Splice_Site_p.W278_splice|STAT5A_ENST00000588868.1_Splice_Site_p.W278_splice	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	278					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.W278*(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCTCGTGCAGGTGTGAGAAGT	0.637000													6	44					0	0	0.004482	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37126589	37126589	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:37126589A>G	ENST00000336755.5	+	2	366	c.260A>G	c.(259-261)gAt>gGt	p.D87G	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.D86G|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	87							nucleic acid binding|zinc ion binding	p.D87G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGCTGTCAGATGGGTCAGAG	0.398000													30	153					0	0	0.010818	0	0
CR1L	1379	broad.mit.edu	37	1	207896969	207896969	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:207896969A>C	ENST00000508064.2	+	12	1709	c.1649A>C	c.(1648-1650)cAt>cCt	p.H550P		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	550						cytoplasm|extracellular region|membrane		p.H550P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTAGGTTCACATGATGCTCTT	0.348000													3	24					0	0	0.000602	0	0
SCAND3	114821	broad.mit.edu	37	6	28539729	28539729	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:28539729C>G	ENST00000452236.2	-	4	4554	c.3937G>C	c.(3937-3939)Gac>Cac	p.D1313H		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1313					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.D1313H(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gttaatttgtctaatctaggt	0.313000													18	70					0	0	0.007413	0	0
DRAM2	128338	broad.mit.edu	37	1	111663261	111663261	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:111663261C>A	ENST00000286692.4	-	6	1011	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	DRAM2_ENST00000539140.1_Missense_Mutation_p.G132C|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	132					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		p.G132C(1)		endometrium(1)|large_intestine(5)|lung(3)	9						TATAATGAGCCCATACCAAAG	0.403000													12	44					4.3838e-07	5.72086e-07	0.001855	1	0
USP8	9101	broad.mit.edu	37	15	50791203	50791203	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:50791203C>G	ENST00000433963.1	+	21	3775	c.3275C>G	c.(3274-3276)tCc>tGc	p.S1092C	USP8_ENST00000307179.4_Missense_Mutation_p.S1092C|USP8_ENST00000425032.3_Missense_Mutation_p.S986C|USP8_ENST00000396444.3_Missense_Mutation_p.S1092C	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1092					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S1092C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCTGATATCTCCGTTTCTTCT	0.413000													7	78					0	0	0.001984	0	0
OR52B4	143496	broad.mit.edu	37	11	4389127	4389127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:4389127C>A	ENST00000408920.2	-	1	489	c.399G>T	c.(397-399)agG>agT	p.R133S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R133S(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGTGTACCTCAGTGGGT	0.403000													14	56					6.31663e-08	8.54217e-08	0.003163	1	0
PARK2	5071	broad.mit.edu	37	6	162475170	162475170	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:162475170G>T	ENST00000366898.1	-	5	673	c.571C>A	c.(571-573)Cgg>Agg	p.R191R	PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366892.1_Silent_p.R191R|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	191					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R191R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCACTCATCCGGTTTGGAATT	0.393000													14	58					9.31168e-06	1.13435e-05	0.001855	1	0
RORB	6096	broad.mit.edu	37	9	77275585	77275585	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:77275585C>T	ENST00000376896.2	+	5	1302	c.690C>T	c.(688-690)acC>acT	p.T230T	RORB_ENST00000396204.2_Silent_p.T241T	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	241	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T230T(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTCAATACACCATGGAAGAGC	0.403000													8	78					0	0	0.004482	0	0
JADE3	9767	broad.mit.edu	37	X	46845161	46845161	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:46845161A>G	ENST00000218343.4	+	3	392	c.94A>G	c.(94-96)Aaa>Gaa	p.K32E	PHF16_ENST00000397189.1_Missense_Mutation_p.K32E	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		32					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.K32E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GATCAAGTCAAAAATTCCAAA	0.348000													13	23					0	0	0.004007	0	0
LILRA2	11027	broad.mit.edu	37	19	55087569	55087569	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:55087569G>T	ENST00000251377.3	+	7	1381	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	LILRA2_ENST00000391737.1_Silent_p.V404V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.V416V|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Silent_p.V416V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V416V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGGAGCTCGTGGTCTCAGGTG	0.607000													13	86					1.3612e-06	1.73093e-06	0.003163	1	0
USH2A	7399	broad.mit.edu	37	1	216258133	216258133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216258133C>G	ENST00000366943.2	-	25	5460	c.5074G>C	c.(5074-5076)Gat>Cat	p.D1692H	USH2A_ENST00000307340.3_Missense_Mutation_p.D1692H|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1692	Laminin G-like 1.				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.D1692H(1)		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)		CTCTGCCAATCCAGAGGTTCC	0.433000										HNSCC(13;0.011)			9	144					0	0	0.004482	0	0
MED13L	23389	broad.mit.edu	37	12	116675300	116675300	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:116675300C>G	ENST00000281928.3	-	2	489	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	95					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.V95L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATTACACCCACTAGGTTGGGT	0.378000													31	78					0	0	0.008361	0	0
ANKS1B	56899	broad.mit.edu	37	12	99898273	99898273	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:99898273C>A	ENST00000547776.2	-	10	1418	c.1419G>T	c.(1417-1419)agG>agT	p.R473S	ANKS1B_ENST00000547010.1_Missense_Mutation_p.R53S|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R473S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	473						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		p.R473S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGAAGGTGCCCTTGCAATTT	0.383000													22	69					2.52088e-20	4.401e-20	0.002780	1	0
NCAM1	4684	broad.mit.edu	37	11	113133594	113133594	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:113133594T>A	ENST00000533760.1	+	17	2373	c.1774T>A	c.(1774-1776)Tac>Aac	p.Y592N	NCAM1_ENST00000397957.4_Intron|NCAM1_ENST00000316851.7_Intron	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	720	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCTGCATCCTACACCTTTGT	0.433000													12	39					0	0	0.003163	0	0
OR51B4	79339	broad.mit.edu	37	11	5322428	5322428	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5322428A>T	ENST00000380224.1	-	1	798	c.749T>A	c.(748-750)aTc>aAc	p.I250N	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I250N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCACAGTGATGTGAAATAC	0.448000													12	55					0	0	0.002450	0	0
AFTPH	54812	broad.mit.edu	37	2	64778627	64778627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:64778627C>T	ENST00000422803.1	+	2	333	c.19C>T	c.(19-21)Cga>Tga	p.R7*	AFTPH_ENST00000409933.1_Nonsense_Mutation_p.R7*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.R7*|AFTPH_ENST00000238856.4_Nonsense_Mutation_p.R7*			Q6ULP2	AFTIN_HUMAN	aftiphilin	7					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.R7*(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGACATCATTCGAATGTACTC	0.378000													6	126					0	0	0.001168	0	0
ZNF665	79788	broad.mit.edu	37	19	53668214	53668214	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53668214C>G	ENST00000600412.1	-	2	1449	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	ZNF665_ENST00000396424.3_Missense_Mutation_p.G510A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G445A(1)|p.G510A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGTTTTTCTCCAGTATGAAC	0.393000													9	183					0	0	0.004482	0	0
TTN	7273	broad.mit.edu	37	2	179584928	179584928	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179584928A>G	ENST00000589042.1	-	81	23665	c.23441T>C	c.(23440-23442)tTa>tCa	p.L7814S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L6570S|TTN_ENST00000591111.1_Missense_Mutation_p.L7497S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7497	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L6570S(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)			TATGGCCCGTAACTCAACAGC	0.428000													4	73					0	0	0.009096	0	0
LRRC32	2615	broad.mit.edu	37	11	76372213	76372213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:76372213C>A	ENST00000407242.2	-	3	666	c.424G>T	c.(424-426)Gag>Tag	p.E142*	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E142*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E142*	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	142						integral to plasma membrane		p.E142*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCAGCAGGCCG	0.687000													8	31					0.000442599	0.000490524	0.006214	1	0
C16orf82	162083	broad.mit.edu	37	16	27078357	27078357	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:27078357G>T	ENST00000505035.1	+	0	330				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			TTTCTCGAGGGAGAAAAAGGG	0.587000													5	28					3.59834e-05	4.22097e-05	0.001168	1	0
PCLO	27445	broad.mit.edu	37	7	82585417	82585417	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:82585417T>C	ENST00000423517.2	-	5	5189	c.4852A>G	c.(4852-4854)Agc>Ggc	p.S1618G	PCLO_ENST00000333891.8_Missense_Mutation_p.S1618G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1549					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S1618G(2)|p.S1549G(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						TCATCAATGCTTGTGCTACTT	0.408000													9	376					0	0	0.006214	0	0
MYO9A	4649	broad.mit.edu	37	15	72191292	72191292	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72191292C>A	ENST00000356056.5	-	25	4024	c.3552G>T	c.(3550-3552)ctG>ctT	p.L1184L	MYO9A_ENST00000444904.1_Silent_p.L1165L|MYO9A_ENST00000424560.1_Silent_p.L1184L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.L804L|MYO9A_ENST00000564571.1_Silent_p.L1184L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1184	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.L1184L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTGAATTTCCAGAGATCCAT	0.348000													12	191					7.01153e-11	1.04126e-10	0.007291	1	0
LIMA1	51474	broad.mit.edu	37	12	50571584	50571584	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:50571584G>C	ENST00000547825.1	-	5	1906	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	LIMA1_ENST00000552823.1_Missense_Mutation_p.Q355E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q516E|LIMA1_ENST00000341247.4_Missense_Mutation_p.Q515E|LIMA1_ENST00000552491.1_Missense_Mutation_p.Q212E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q354E|LIMA1_ENST00000552783.1_Missense_Mutation_p.Q356E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	515					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.Q515E(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCTCCTGCTGAGAGGAGGCC	0.567000													27	150					0	0	0.004656	0	0
DCAF8	50717	broad.mit.edu	37	1	160209744	160209744	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:160209744G>A	ENST00000368073.3	-	4	900	c.466C>T	c.(466-468)Cct>Tct	p.P156S	DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000326837.2_Missense_Mutation_p.P156S|DCAF8_ENST00000368074.1_Missense_Mutation_p.P156S|DCAF8_ENST00000556710.1_Missense_Mutation_p.P310S			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	156						CUL4 RING ubiquitin ligase complex	protein binding	p.P310S(1)|p.P156S(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CGAAGGGCAGGGAGGGCTTGC	0.612000													16	61					0	0	0.008871	0	0
OR52A5	390054	broad.mit.edu	37	11	5153246	5153246	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5153246G>T	ENST00000307388.1	-	1	626	c.627C>A	c.(625-627)atC>atA	p.I209I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAACCCTAGGATTGCAAAGG	0.418000													26	80					1.64293e-13	2.59489e-13	0.003330	1	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													3	53					0	0	0.004482	0	0
KRT38	8687	broad.mit.edu	37	17	39596834	39596834	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:39596834G>C	ENST00000246646.3	-	1	339	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	114	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.R114G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTGGCCAGGCGGTCATTCAGG	0.582000													37	101					0	0	0.004878	0	0
RBM10	8241	broad.mit.edu	37	X	47034444	47034444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:47034444G>T	ENST00000377604.3	+	6	1271	c.529G>T	c.(529-531)Gag>Tag	p.E177*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.E100*|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Nonsense_Mutation_p.E100*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	177	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.E177*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGCCTTCGTCGAGTTTAGTCA	0.552000													21	21					5.26018e-13	8.221e-13	0.012319	1	0
FAT3	120114	broad.mit.edu	37	11	92495149	92495149	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:92495149G>A	ENST00000298047.6	+	4	3814	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	FAT3_ENST00000525166.1_Missense_Mutation_p.R1116H|RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.R1266H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1266	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R1266H(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)				CTGCCAGAACGTGACCGAAAG	0.473000										TCGA Ovarian(4;0.039)			30	212					0	0	0.008361	0	0
ITGAD	3681	broad.mit.edu	37	16	31427872	31427872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:31427872G>T	ENST00000389202.2	+	20	2453	c.2404G>T	c.(2404-2406)Gtg>Ttg	p.V802L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	802					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.V802L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAACGTGATTGTGACTGTGTG	0.612000													17	69					6.94344e-10	1.0054e-09	0.006122	1	0
ZNF765	91661	broad.mit.edu	37	19	53911608	53911608	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53911608G>T	ENST00000396408.3	+	4	917	c.800G>T	c.(799-801)gGt>gTt	p.G267V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G267V(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGTCACACTGGTGAGAAACCT	0.403000													36	100					1.03484e-13	1.63692e-13	0.005524	1	0
ROBO1	6091	broad.mit.edu	37	3	78717633	78717633	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:78717633C>A	ENST00000436010.2	-	10	2511		c.e10+1		ROBO1_ENST00000495273.1_Splice_Site|ROBO1_ENST00000467549.1_Splice_Site|ROBO1_ENST00000464233.1_Splice_Site			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.?(3)|p.G544V(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTACTTTACCTTGAACTTC	0.428000													12	48					9.05144e-12	1.38356e-11	0.001855	1	0
GGA3	23163	broad.mit.edu	37	17	73238543	73238543	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73238543C>T	ENST00000245541.6	-	8	837	c.621G>A	c.(619-621)cgG>cgA	p.R207R	GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000582717.1_Silent_p.R135R|GGA3_ENST00000351904.7_Silent_p.R174R|GGA3_ENST00000538886.1_Silent_p.R85R|GGA3_ENST00000582486.1_Silent_p.R135R|GGA3_ENST00000578348.1_Silent_p.R85R	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	207	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.R207R(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCTTCTGGATCCGTGCCTCGT	0.512000													19	189					0	0	0.006122	0	0
DNAH3	55567	broad.mit.edu	37	16	20946702	20946702	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20946702T>C	ENST00000261383.3	-	61	11964	c.11965A>G	c.(11965-11967)Atc>Gtc	p.I3989V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3989					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I3989V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAATGGGGATGGTATATTTC	0.463000													4	98					0	0	0.009096	0	0
RBM19	9904	broad.mit.edu	37	12	114397086	114397086	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:114397086C>A	ENST00000545145.2	-	5	580	c.502G>T	c.(502-504)Gac>Tac	p.D168Y	RBM19_ENST00000261741.5_Missense_Mutation_p.D168Y|RBM19_ENST00000392561.3_Missense_Mutation_p.D168Y	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	168					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	p.D168Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCAGGTAGTCACTGGCCGGC	0.617000													22	73					2.98393e-07	3.94832e-07	0.002780	1	0
CAMK1D	57118	broad.mit.edu	37	10	12867623	12867623	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:12867623G>C	ENST00000378847.3	+	10	1310	c.973G>C	c.(973-975)Ggc>Cgc	p.G325R	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G325R	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	325						calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.G325R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACTACACCTCGGCAGCAGCCT	0.458000													22	162					0	0	0.002780	0	0
PROS1	5627	broad.mit.edu	37	3	93619732	93619732	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:93619732C>T	ENST00000394236.3	-	7	959	c.643G>A	c.(643-645)Gct>Act	p.A215T	PROS1_ENST00000407433.1_Missense_Mutation_p.A84T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	215	EGF-like 3; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.A215T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTGCACACAGCTGTGCCACAA	0.388000													16	43					0	0	0.003163	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139144	90139144	+	RNA	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:90139144C>T	ENST00000492446.1	+	0	67																											GGGGCTCCTGCTGCTCTGTTT	0.502000													6	213					0	0	0.004482	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227518	43227518	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:43227518C>T	ENST00000332499.2	+	1	2835	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	321	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	p.R321C(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGACGACGCGCGTGTGCGGGA	0.672000													24	87					0	0	0.007291	0	0
XPO1	7514	broad.mit.edu	37	2	61721218	61721218	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61721218A>C	ENST00000401558.2	-	12	1783	c.1056T>G	c.(1054-1056)caT>caG	p.H352Q	XPO1_ENST00000406957.1_Missense_Mutation_p.H352Q|XPO1_ENST00000404992.2_Missense_Mutation_p.H352Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	352	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.H352Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ACAACATATAATGAAGGGCCT	0.318000			Mis		CLL								4	97					0	0	0.009096	0	0
PAAF1	80227	broad.mit.edu	37	11	73620586	73620586	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:73620586G>T	ENST00000544909.1	+	5	935	c.678G>T	c.(676-678)gcG>gcT	p.A226A	PAAF1_ENST00000310571.3_Silent_p.A225A|PAAF1_ENST00000544552.1_Silent_p.A208A|PAAF1_ENST00000536003.1_Silent_p.A208A|PAAF1_ENST00000541951.1_Silent_p.A110A|PAAF1_ENST00000535604.1_Silent_p.A110A|PAAF1_ENST00000376384.5_Silent_p.A208A			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	225					interspecies interaction between organisms	proteasome complex	protein binding	p.A225A(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ATGGAGTGGCGGTGGGTGCTG	0.502000													5	85					3.59834e-05	4.22097e-05	0.001168	1	0
IMPACT	55364	broad.mit.edu	37	18	22020507	22020507	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:22020507G>A	ENST00000284202.4	+	6	556	c.415G>A	c.(415-417)Gat>Aat	p.D139N		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	139								p.D139N(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGAATGTGAAGATGATCTCAT	0.363000													25	88					0	0	0.005443	0	0
XYLT1	64131	broad.mit.edu	37	16	17294420	17294420	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17294420G>T	ENST00000261381.6	-	4	1089	c.1005C>A	c.(1003-1005)caC>caA	p.H335Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	335					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.H335Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGCACGGCCGTGGACCACCA	0.567000													29	132					1.39806e-14	2.2594e-14	0.008361	1	0
CDH12	1010	broad.mit.edu	37	5	21783481	21783481	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:21783481A>G	ENST00000382254.1	-	11	2465	c.1379T>C	c.(1378-1380)aTt>aCt	p.I460T	CDH12_ENST00000522262.1_Missense_Mutation_p.I420T|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.I460T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	460	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I460T(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTACTCGCAATTATGGAGAA	0.383000										HNSCC(59;0.17)			27	127					0	0	0.005443	0	0
LRRK2	120892	broad.mit.edu	37	12	40709081	40709081	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:40709081G>T	ENST00000298910.7	+	33	4864	c.4806G>T	c.(4804-4806)tgG>tgT	p.W1602C	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1602					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.W1602C(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACCCAAGTGGCTTTGTAAAA	0.428000													52	142					3.88204e-17	6.558e-17	0.003610	1	0
WDR53	348793	broad.mit.edu	37	3	196288274	196288274	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:196288274C>A	ENST00000332629.5	-	3	640	c.73G>T	c.(73-75)Gct>Tct	p.A25S	WDR53_ENST00000429115.1_Intron|WDR53_ENST00000433160.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	25								p.A25S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCTCCAGAAGCCAGCAGCCCT	0.552000													16	17					0.000566183	0.000626824	0.004990	1	0
TLL1	7092	broad.mit.edu	37	4	166924717	166924717	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:166924717G>T	ENST00000061240.2	+	6	1454	c.807G>T	c.(805-807)caG>caT	p.Q269H	TLL1_ENST00000513213.1_Missense_Mutation_p.Q269H|TLL1_ENST00000507499.1_Missense_Mutation_p.Q269H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	269	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.Q269H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAACATCCAGCCAGGTGAGA	0.383000													7	31					8.12818e-05	9.33534e-05	0.001984	1	0
JPH2	57158	broad.mit.edu	37	20	42744380	42744380	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:42744380C>G	ENST00000372980.3	-	4	2807	c.1935G>C	c.(1933-1935)ctG>ctC	p.L645L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	645					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.L645L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGCCTTGGTCAGCCCTCGAG	0.697000													8	28					0	0	0.004482	0	0
HMGCR	3156	broad.mit.edu	37	5	74646642	74646642	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:74646642A>T	ENST00000287936.4	+	9	965	c.809A>T	c.(808-810)cAc>cTc	p.H270L	HMGCR_ENST00000343975.5_Missense_Mutation_p.H270L|HMGCR_ENST00000511206.1_Missense_Mutation_p.H270L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	270					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	p.H270L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GTTCATGCTCACAGTCGCTGG	0.368000													24	59					0	0	0.004656	0	0
UGT2B10	7365	broad.mit.edu	37	4	69692215	69692215	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:69692215G>T	ENST00000265403.7	+	4	1114	c.1087_splice	c.e4+1	p.G363_splice	UGT2B10_ENST00000458688.2_Splice_Site_p.G279_splice	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	363					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G363C(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGACCTTCTAGGTAACACTCT	0.368000													31	74					2.80507e-11	4.22582e-11	0.012213	1	0
FAM83B	222584	broad.mit.edu	37	6	54792420	54792420	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:54792420G>T	ENST00000306858.7	+	4	840	c.724G>T	c.(724-726)Ggt>Tgt	p.G242C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	242								p.G242C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTGATGTACGGTTCTTACAG	0.303000													29	94					1.74807e-11	2.65259e-11	0.010818	1	0
NCOR1	9611	broad.mit.edu	37	17	16004785	16004785	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:16004785G>A	ENST00000268712.3	-	20	2726	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	NCOR1_ENST00000395851.1_Silent_p.D839D|NCOR1_ENST00000395848.1_Silent_p.D730D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	823					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.D823D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCACTTCAACGTCCACAGAGT	0.493000													7	78					0	0	0.001984	0	0
FBXL5	26234	broad.mit.edu	37	4	15646167	15646167	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:15646167A>T	ENST00000341285.3	-	2	373	c.249T>A	c.(247-249)aaT>aaA	p.N83K	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Missense_Mutation_p.N66K	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	83	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	p.N83K(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CGGAGAGTTTATTGTCAGAAT	0.363000													3	64					0	0	0.000602	0	0
SMCHD1	23347	broad.mit.edu	37	18	2674057	2674057	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:2674057A>G	ENST00000320876.6	+	5	889	c.551A>G	c.(550-552)gAt>gGt	p.D184G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D184G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	184					chromosome organization		ATP binding	p.D184G(6)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCAGTGATAGATAATGGAAGA	0.353000													3	21					0	0	0.004672	0	0
RNF144A	9781	broad.mit.edu	37	2	7154848	7154848	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:7154848G>T	ENST00000320892.6	+	5	688	c.246G>T	c.(244-246)gaG>gaT	p.E82D	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	82						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	p.E82D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTTAGATTGAGTGCATGGTTG	0.388000													17	55					8.34094e-07	1.06715e-06	0.008871	1	0
SEC31A	22872	broad.mit.edu	37	4	83795890	83795890	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:83795890G>T	ENST00000432794.1	-	6	676	c.513C>A	c.(511-513)atC>atA	p.I171I	SEC31A_ENST00000508479.1_Silent_p.I171I|SEC31A_ENST00000395310.2_Silent_p.I171I|SEC31A_ENST00000355196.2_Silent_p.I171I|SEC31A_ENST00000443462.2_Silent_p.I166I|SEC31A_ENST00000348405.4_Silent_p.I171I|SEC31A_ENST00000326950.5_Silent_p.I171I|SEC31A_ENST00000311785.7_Silent_p.I171I|SEC31A_ENST00000513858.1_Silent_p.I171I|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000509142.1_Silent_p.I171I|SEC31A_ENST00000508502.1_Silent_p.I171I|SEC31A_ENST00000505984.1_Silent_p.I171I|SEC31A_ENST00000505472.1_Silent_p.I171I|SEC31A_ENST00000500777.2_Silent_p.I171I|SEC31A_ENST00000448323.1_Silent_p.I171I			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	171	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I171I(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAATGCAGCTGATATCTTCTG	0.383000													6	108					0.000157383	0.000178402	0.003080	1	0
OR1L6	392390	broad.mit.edu	37	9	125512544	125512544	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:125512544C>T	ENST00000373684.1	+	1	526	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	OR1L6_ENST00000304720.2_Missense_Mutation_p.R140W			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R176W(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TATGAAACCACGGCATTGCCT	0.532000													5	185					0	0	0.001855	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141262976	141262976	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:141262976C>A	ENST00000389328.4	-	16	2639	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.Q777H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.Q768H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	777					cell differentiation	endoplasmic reticulum|Golgi apparatus		p.Q875H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCAAAGGGAACTGGGCAAGGG	0.473000													38	61					4.34086e-07	5.69329e-07	0.005524	1	0
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:71495673C>A	ENST00000296755.7	+	5	6789	c.6491C>A	c.(6490-6492)cCg>cAg	p.P2164Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2164						microtubule|microtubule associated complex	structural molecule activity	p.P2164Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGTTCCCCCGGAGACTGAA	0.577000													20	51					8.00594e-06	9.78712e-06	0.007413	1	0
AK9	221264	broad.mit.edu	37	6	109954510	109954510	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109954510G>A	ENST00000424296.2	-	11	1026	c.950C>T	c.(949-951)aCt>aTt	p.T317I	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.T317I|AK9_ENST00000285397.5_Missense_Mutation_p.T317I	NM_001145128.2	NP_001138600.2			adenylate kinase 9									p.T317I(2)									AGATGCAAGAGTACGAAATAG	0.303000													4	20					0	0	0.009096	0	0
OR10H4	126541	broad.mit.edu	37	19	16060501	16060501	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16060501G>C	ENST00000322107.1	+	1	684	c.684G>C	c.(682-684)ttG>ttC	p.L228F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L228F(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CTGCCATCTTGAGGATTCCCT	0.498000													8	248					0	0	0.010729	0	0
BRINP3	339479	broad.mit.edu	37	1	190203503	190203503	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:190203503T>A	ENST00000367462.3	-	5	954	c.724_splice	c.e5+1	p.Q241_splice	FAM5C_ENST00000534846.1_Splice_Site_p.Q139_splice|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		241						extracellular region		p.Q241H(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CCAACATACCTTGCAACTGAA	0.373000													6	73					0	0	0.001984	0	0
DOCK2	1794	broad.mit.edu	37	5	169111246	169111246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:169111246C>A	ENST00000256935.8	+	8	733	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	218					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.S218Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCCTCATCCCCCACCCAT	0.468000													50	102					3.19069e-20	5.56106e-20	0.003610	1	0
GLT8D2	83468	broad.mit.edu	37	12	104397019	104397019	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:104397019C>A	ENST00000360814.4	-	5	583	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	GLT8D2_ENST00000548660.1_Missense_Mutation_p.G60W|GLT8D2_ENST00000546436.1_Missense_Mutation_p.G60W	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	60						integral to membrane	transferase activity, transferring glycosyl groups	p.G60W(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCCATCCTCCCTGCTGCAGCA	0.473000													24	135					1.1804e-14	1.91356e-14	0.003954	1	0
NALCN	259232	broad.mit.edu	37	13	101756713	101756713	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:101756713C>A	ENST00000251127.6	-	25	2903	c.2822G>T	c.(2821-2823)gGc>gTc	p.G941V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	941						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G941V(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAAAATAAGCCATCTGCCAT	0.373000													9	70					0.000442599	0.000490524	0.006214	1	0
MPPED2	744	broad.mit.edu	37	11	30433061	30433061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:30433061G>T	ENST00000358117.5	-	6	961	c.839C>A	c.(838-840)aCc>aAc	p.T280N	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	280					nervous system development		hydrolase activity|metal ion binding	p.T280N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGGAGGGTTGGTCGGTTGAAA	0.468000													12	40					9.31168e-06	1.13435e-05	0.001855	1	0
RTCB	51493	broad.mit.edu	37	22	32792114	32792114	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:32792114C>T	ENST00000216038.5	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A313T(1)									TAGTTCCCAGCAGCTGCCATT	0.493000													81	190					0	0	0.003610	0	0
OR52R1	119695	broad.mit.edu	37	11	4825053	4825053	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:4825053A>T	ENST00000380382.1	-	1	794	c.795T>A	c.(793-795)gcT>gcA	p.A265A	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.A186A|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A185A(1)|p.A265A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCAGCACAGCCATGTGCT	0.517000													7	89					0	0	0.003080	0	0
ZNF28	7576	broad.mit.edu	37	19	53311326	53311326	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53311326C>T	ENST00000457749.2	-	3	195	c.76G>A	c.(76-78)Gac>Aac	p.D26N	ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.D26N|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D26N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAGCAGGGTCCAGGCATTTC	0.488000													26	204					0	0	0.004656	0	0
LGR6	59352	broad.mit.edu	37	1	202245499	202245499	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:202245499G>A	ENST00000367278.3	+	5	583	c.494G>A	c.(493-495)cGc>cAc	p.R165H	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R113H|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	165						integral to membrane|plasma membrane	protein-hormone receptor activity	p.R165H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCTCCCTCCGCCACCTCTGG	0.632000													4	95					0	0	0.009096	0	0
GALNT13	114805	broad.mit.edu	37	2	155098649	155098649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:155098649A>T	ENST00000392825.3	+	5	985	c.418A>T	c.(418-420)Aat>Tat	p.N140Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.N140Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	140	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N140Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGTGTGATAAATCGTTCCCC	0.378000													14	42					0	0	0.003163	0	0
NLRP5	126206	broad.mit.edu	37	19	56539670	56539670	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56539670C>G	ENST00000390649.3	+	7	2071	c.2071C>G	c.(2071-2073)Ctt>Gtt	p.L691V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	691						mitochondrion|nucleolus	ATP binding	p.L691V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCCACTGTCTTTTCGAGAC	0.522000													13	128					0	0	0.001855	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874823	117874823	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:117874823G>T	ENST00000357099.4	+	4	596	c.423G>T	c.(421-423)agG>agT	p.R141S	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Missense_Mutation_p.R68S|ANKRD7_ENST00000433239.1_Missense_Mutation_p.R68S|ANKRD7_ENST00000265224.4_Missense_Mutation_p.R121S			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	121					male gonad development			p.R141S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CAGATCTGAGGGATATTCGTT	0.378000													11	109					2.80697e-09	3.99793e-09	0.010729	1	0
ST3GAL1	6482	broad.mit.edu	37	8	134472025	134472025	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:134472025C>A	ENST00000319914.5	-	9	2032	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R	ST3GAL1_ENST00000522652.1_Silent_p.R335R|ST3GAL1_ENST00000399640.2_Silent_p.R335R|ST3GAL1_ENST00000521180.1_Silent_p.R335R			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	335					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.R335R(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTTGAAGATCCGGATTTTAT	0.572000													9	119					0.000274275	0.00030527	0.004482	1	0
OR2H1	26716	broad.mit.edu	37	6	29429884	29429884	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29429884T>A	ENST00000377136.1	+	4	803	c.338T>A	c.(337-339)cTg>cAg	p.L113Q	OR2H1_ENST00000442615.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000377132.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000377133.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000396792.2_Missense_Mutation_p.L113Q|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L113Q(1)		large_intestine(5)|lung(12)	17						TGCATCCTCCTGACAGTGATG	0.602000													32	112					0	0	0.009535	0	0
BRCA1	672	broad.mit.edu	37	17	41243499	41243499	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:41243499C>G	ENST00000309486.4	-	9	4188	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	BRCA1_ENST00000493795.1_Missense_Mutation_p.G1303A|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1350A|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.G1350A|BRCA1_ENST00000354071.3_Missense_Mutation_p.G1350A|BRCA1_ENST00000346315.3_Missense_Mutation_p.G1350A|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1350					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.G1350A(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCCAAGCCCGTTCCTCT	0.408000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			31	83					0	0	0.010818	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263398	122263398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:122263398C>A	ENST00000398250.1	+	2	477	c.125C>A	c.(124-126)cCt>cAt	p.P42H	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.P42H|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P32H|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.P42H|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P42H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	42					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	p.P42H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TATAAAAATCCTTTGGTGCAA	0.383000													11	53					0.000673444	0.000735435	0.008291	1	0
TYRO3	7301	broad.mit.edu	37	15	41870231	41870231	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:41870231T>C	ENST00000263798.3	+	19	2654	c.2430T>C	c.(2428-2430)gcT>gcC	p.A810A	TYRO3_ENST00000559066.1_Silent_p.A765A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	810						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A810A(1)|p.A802A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCGAGAGAGCTGAGGAGCCCA	0.602000													4	23					0	0	0.000602	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591242	234591242	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234591242G>T	ENST00000373426.3	+	1	659	c.659G>T	c.(658-660)tGc>tTc	p.C220F	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2												p.C220F(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CATTTATTTTGCCCCTATTTT	0.423000													109	246					9.53958e-58	1.7596e-57	0.003610	1	0
CHRNA6	8973	broad.mit.edu	37	8	42611846	42611846	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:42611846G>A	ENST00000276410.2	-	5	851	c.496C>T	c.(496-498)Cct>Tct	p.P166S	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P151S	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	166						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P166S(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGATCAAAAGGGAAAAAGGTG	0.368000													15	102					0	0	0.002450	0	0
RIMS1	22999	broad.mit.edu	37	6	72806789	72806789	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:72806789G>A	ENST00000264839.7	+	3	383	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	RIMS1_ENST00000521978.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000517960.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000520567.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000348717.5_Missense_Mutation_p.C128Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.C128Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.C128Y			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	128	RabBD.				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.C128Y(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)				GCTGATGGGTGCGGTCATCTC	0.517000													9	37					0	0	0.004482	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85165222	85165222	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:85165222C>A	ENST00000448803.2	+	3	2088	c.1796C>A	c.(1795-1797)tCt>tAt	p.S599Y	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S598Y|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S449Y|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S599Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	599					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S599Y(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGCAACAGCTCTAACTTTATC	0.483000													12	68					0.00010058	0.000115138	0.001368	1	0
OR56A4	120793	broad.mit.edu	37	11	6024334	6024334	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6024334G>A	ENST00000330728.4	-	1	90	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G15G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCACTGAGGCCCTGTATCT	0.373000													11	45					0	0	0.001368	0	0
OR52N1	79473	broad.mit.edu	37	11	5809676	5809676	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5809676T>A	ENST00000317078.1	-	1	370	c.371A>T	c.(370-372)cAc>cTc	p.H124L	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H124L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCCACACAGTGGTCCAGGGC	0.512000													6	106					0	0	0.001168	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840368	153840368	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:153840368A>T	ENST00000356448.4	+	2	871	c.587A>T	c.(586-588)aAg>aTg	p.K196M	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.K196M|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.K196M	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	196					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	p.K196M(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CGGAAGGCAAAGGACCCCGAA	0.612000													10	44					0	0	0.010729	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88925683	88925683	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:88925683T>C	ENST00000277141.6	-	19	3607	c.1183A>G	c.(1183-1185)Att>Gtt	p.I395V	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.I1106V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I1106V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I870V|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.I44V			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1106					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	p.I1106V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACTTCACAATTGGCACCTTT	0.343000													5	36					0	0	0.001168	0	0
KIF21B	23046	broad.mit.edu	37	1	200959110	200959110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200959110C>A	ENST00000332129.2	-	21	3408	c.3092G>T	c.(3091-3093)cGc>cTc	p.R1031L	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1031L|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1031L|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1031L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1031					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1031L(1)|p.R1031H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TAGCAGGAGGCGGGCTTCAGC	0.597000													10	76					1.76689e-08	2.43035e-08	0.006214	1	0
PPRC1	23082	broad.mit.edu	37	10	103906712	103906712	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:103906712G>C	ENST00000278070.2	+	9	4002	c.3963G>C	c.(3961-3963)tgG>tgC	p.W1321C	PPRC1_ENST00000370012.1_Missense_Mutation_p.W288C|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.W1321C(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCCCGATGGAATGTCAAGC	0.607000													4	33					0	0	0.000602	0	0
CTNNA3	29119	broad.mit.edu	37	10	68979401	68979401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:68979401C>A	ENST00000433211.1	-	6	981	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q269H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q269H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	269					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.Q269H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGGTTGCTGCCTGAGGTTCTG	0.413000													25	280					1.88708e-17	3.19824e-17	0.008361	1	0
SPNS3	201305	broad.mit.edu	37	17	4349344	4349344	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:4349344A>T	ENST00000355530.2	+	4	684	c.402_splice	c.e4-1	p.Y135_splice	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Splice_Site_p.Y8_splice	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	135					lipid transport|transmembrane transport	integral to membrane		p.Y135F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCGCCCAGTATTCTTGGCTC	0.632000													11	34					0	0	0.003163	0	0
GPR101	83550	broad.mit.edu	37	X	136113649	136113649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:136113649A>T	ENST00000298110.1	-	1	184	c.185T>A	c.(184-186)cTg>cAg	p.L62Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	62						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L62Q(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CACCTGCAGCAGCTGCGGCTT	0.607000													12	25					0	0	0.004007	0	0
MTMR8	55613	broad.mit.edu	37	X	63557210	63557210	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:63557210G>C	ENST00000374852.3	-	9	1106	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.Q347E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	347	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.Q347E(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGCAGACTTGTGCTGTGCGG	0.443000													5	12					0	0	0.001168	0	0
MED1	5469	broad.mit.edu	37	17	37595433	37595433	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:37595433A>G	ENST00000300651.6	-	6	636	c.413T>C	c.(412-414)cTt>cCt	p.L138P	MED1_ENST00000394287.3_Missense_Mutation_p.L138P	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	138	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L138P(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTGTACAAGCTCCGGACA	0.348000										HNSCC(31;0.082)			19	112					0	0	0.003954	0	0
NECAP1	25977	broad.mit.edu	37	12	8245640	8245640	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:8245640G>T	ENST00000339754.5	+	6	743	c.665G>T	c.(664-666)gGc>gTc	p.G222V		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	222					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		p.G222V(1)		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		AACCATGGAGGCAGTGATGCA	0.443000													21	109					2.21704e-12	3.42394e-12	0.002780	1	0
PARP6	56965	broad.mit.edu	37	15	72533888	72533888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72533888C>A	ENST00000569795.1	-	24	2488	c.1801G>T	c.(1801-1803)Ggt>Tgt	p.G601C	PARP6_ENST00000287196.9_Missense_Mutation_p.G601C|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_3'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	601	PARP catalytic.						NAD+ ADP-ribosyltransferase activity	p.G601C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCCACCTGACCATCCTCATAT	0.463000													6	38					3.59834e-05	4.22097e-05	0.001168	1	0
IRF2BP2	359948	broad.mit.edu	37	1	234743041	234743041	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:234743041G>T	ENST00000366609.3	-	2	1636	c.1606C>A	c.(1606-1608)Caa>Aaa	p.Q536K	IRF2BP2_ENST00000491430.1_5'UTR|IRF2BP2_ENST00000366610.3_Missense_Mutation_p.Q520K|RP4-781K5.2_ENST00000436039.1_RNA	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	536	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q536K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			TTGATGCTTTGTCTGGAGCAA	0.582000													22	120					6.44725e-10	9.36152e-10	0.002299	1	0
EMC1	23065	broad.mit.edu	37	1	19571464	19571464	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:19571464C>T	ENST00000477853.1	-	2	198	c.156G>A	c.(154-156)aaG>aaA	p.K52K	EMC1_ENST00000375199.3_Silent_p.K52K|EMC1_ENST00000356068.2_Silent_p.K52K|EMC1_ENST00000375208.3_Silent_p.K52K	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1			ER membrane protein complex subunit 1									p.K52K(1)									CAACCAACTTCTTGGATCCAG	0.458000													10	129					0	0	0.010729	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113517986	113517986	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:113517986A>G	ENST00000284601.3	-	4	3229	c.3161T>C	c.(3160-3162)cTt>cCt	p.L1054P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1054					glycogen metabolic process	integral to membrane		p.L1054P(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCAACAGGAAGACTAGTAGA	0.363000													27	181					0	0	0.005443	0	0
OR4K15	81127	broad.mit.edu	37	14	20444601	20444601	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20444601T>C	ENST00000305051.5	+	1	999	c.924T>C	c.(922-924)ccT>ccC	p.P308P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P308P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTAAACCCTGTAATCTACA	0.408000													9	88					0	0	0.008291	0	0
SLC44A1	23446	broad.mit.edu	37	9	108126844	108126844	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:108126844G>T	ENST00000374720.3	+	10	1343	c.1096G>T	c.(1096-1098)Gtt>Ttt	p.V366F	SLC44A1_ENST00000343170.7_Missense_Mutation_p.V158F|SLC44A1_ENST00000374723.1_Missense_Mutation_p.V366F|SLC44A1_ENST00000374724.1_Missense_Mutation_p.V366F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	366						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.V366F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGCAGTCCTGTTCAGAATGA	0.438000													10	175					4.68919e-08	6.38268e-08	0.008291	1	0
CSMD3	114788	broad.mit.edu	37	8	113668420	113668420	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:113668420G>C	ENST00000297405.5	-	18	3211	c.2967C>G	c.(2965-2967)aaC>aaG	p.N989K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N949K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N885K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N989K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	989	CUB 5.					integral to membrane|plasma membrane		p.N989K(1)|p.N949K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGAACGACTGTTGTCTGTTG	0.328000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	98					0	0	0.004672	0	0
OR5K4	403278	broad.mit.edu	37	3	98072782	98072782	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:98072782G>T	ENST00000354924.2	+	1	85	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V29L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCTTCTGTTTGTGGTGTTCTC	0.443000													38	245					6.97489e-18	1.18789e-17	0.004878	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209188940	209188940	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:209188940A>T	ENST00000264380.4	+	18	2423	c.2265A>T	c.(2263-2265)acA>acT	p.T755T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	755					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.T755T(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						TTGAGAAAACAGTGTCTCGGA	0.338000													6	145					0	0	0.001984	0	0
GRIK3	2899	broad.mit.edu	37	1	37307394	37307394	+	Nonsense_Mutation	SNP	G	G	T	rs149891912	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:37307394G>T	ENST00000373091.3	-	10	1489	c.1473C>A	c.(1471-1473)taC>taA	p.Y491*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.Y491*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	491					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.Y491*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCTGTGCCCCGTACTTGCCGT	0.597000													16	113					1.52009e-12	2.36157e-12	0.003163	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671171	31671171	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:31671171A>T	ENST00000375483.3	+	3	169		c.e3-1			NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4							cytoplasm|extracellular region	lipid binding	p.?(1)									AATTCCCCCGAGGTGTTGGTG	0.522000													16	122					0	0	0.004007	0	0
PCDH18	54510	broad.mit.edu	37	4	138451465	138451465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:138451465C>A	ENST00000344876.4	-	1	2164	c.1778G>T	c.(1777-1779)gGg>gTg	p.G593V	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G373V|PCDH18_ENST00000412923.2_Missense_Mutation_p.G593V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	593	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G593V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTTTCAGCCCCTTTGGGAAT	0.468000													15	194					2.23348e-06	2.80935e-06	0.004007	1	0
TNS1	7145	broad.mit.edu	37	2	218695090	218695090	+	Splice_Site	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:218695090C>T	ENST00000171887.4	-	21	3474	c.3022_splice	c.e21+1	p.E1008_splice	TNS1_ENST00000430930.1_Intron|TNS1_ENST00000419504.1_Splice_Site_p.E1008_splice	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1008						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.E1008K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCCACCTACCTGGCTGGATC	0.567000													14	40					0	0	0.003163	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698884	111698884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:111698884C>T	ENST00000340433.2	+	1	1158	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	310							nucleic acid binding|zinc ion binding	p.Q310*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGCTCACCAGTAAGAGGA	0.438000													5	29					0	0	0.001168	0	0
PTGS2	5743	broad.mit.edu	37	1	186643804	186643804	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:186643804C>A	ENST00000367468.5	-	10	1632	c.1496G>T	c.(1495-1497)cGg>cTg	p.R499L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	499					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R499L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GGCATCTGGCCGAGGCTTTTC	0.478000													23	125					3.62473e-10	5.28522e-10	0.012319	1	0
ATP1A3	478	broad.mit.edu	37	19	42489545	42489545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:42489545C>A	ENST00000545399.1	-	7	829	c.676G>T	c.(676-678)Gag>Tag	p.E226*	ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.E183*|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.E224*|ATP1A3_ENST00000302102.5_Nonsense_Mutation_p.E213*	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	213					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.E213*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCTGGGGCTCGGATTCGCCA	0.602000													26	68					1.75199e-13	2.76295e-13	0.007291	1	0
OR6B2	389090	broad.mit.edu	37	2	240969526	240969526	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:240969526C>G	ENST00000402971.2	-	1	380	c.321G>C	c.(319-321)ctG>ctC	p.L107L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L107L(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGGTGCACACCAGGGAGCTGA	0.612000													6	27					0	0	0.004482	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935332	151935332	+	Missense_Mutation	SNP	C	C	T	rs35983118	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:151935332C>T	ENST00000393902.3	-	3	1402	c.835G>A	c.(835-837)Gtt>Att	p.V279I	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V279I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	279	MAGE.							p.V279I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTTTCAACGAGGGCCCTT	0.532000													9	137					0	0	0.004482	0	0
ZNF284	342909	broad.mit.edu	37	19	44590804	44590804	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44590804G>T	ENST00000421176.3	+	5	1389	c.1173G>T	c.(1171-1173)cgG>cgT	p.R391R	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R391R(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GACATCAGCGGGTCCACAATG	0.433000													40	121					1.57019e-19	2.71854e-19	0.007835	1	0
GCC1	79571	broad.mit.edu	37	7	127223074	127223074	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:127223074C>A	ENST00000321407.2	-	2	1746	c.1322G>T	c.(1321-1323)aGg>aTg	p.R441M	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	441						Golgi membrane|plasma membrane	protein binding	p.R441M(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCCTCTTCAGCTT	0.567000													42	153					1.00001e-27	1.79075e-27	0.009718	1	0
PIK3R6	146850	broad.mit.edu	37	17	8731893	8731893	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:8731893T>C	ENST00000311434.9	-	11	1543	c.1304A>G	c.(1303-1305)cAc>cGc	p.H435R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	435					platelet activation	cytosol		p.H516R(1)									CCTGAGTCTGTGGTAGGCCTG	0.701000													5	19					0	0	0.001168	0	0
XDH	7498	broad.mit.edu	37	2	31605971	31605971	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:31605971G>T	ENST00000379416.3	-	11	982	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	312	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.L312M(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCATCCACCAGGGTTTTTTCC	0.537000													7	58					0.00448238	0.00478977	0.004482	1	0
FBN1	2200	broad.mit.edu	37	15	48756162	48756162	+	Missense_Mutation	SNP	C	C	A	rs140626		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:48756162C>A	ENST00000316623.5	-	41	5454	c.4999G>T	c.(4999-5001)Gtt>Ttt	p.V1667F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1667	EGF-like 28; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.V1667F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTTGCCAACGGTGTTGTAA	0.418000													3	29					0.00024832	0.000277863	0.009096	1	0
TSHR	7253	broad.mit.edu	37	14	81609827	81609827	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81609827C>A	ENST00000541158.2	+	11	1747	c.1425C>A	c.(1423-1425)ctC>ctA	p.L475L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.L475L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	475					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L475L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTGTAGACCTCTACACTCACT	0.542000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						25	70					1.5548e-18	2.66537e-18	0.005443	1	0
OR10T2	128360	broad.mit.edu	37	1	158368994	158368994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158368994G>T	ENST00000334438.1	-	1	262	c.263C>A	c.(262-264)tCa>tAa	p.S88*		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S88*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTTGGTGTCTGAGAGCAGGTG	0.493000													16	40					1.3612e-06	1.73093e-06	0.003163	1	0
KMT2C	58508	broad.mit.edu	37	7	151878797	151878797	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:151878797G>A	ENST00000355193.2	-	36	6366	c.6148C>T	c.(6148-6150)Cct>Tct	p.P2050S	KMT2C_ENST00000262189.6_Missense_Mutation_p.P2050S					lysine (K)-specific methyltransferase 2C									p.P2050S(2)									GAGGATGGAGGAGGTTGCATT	0.473000													8	71					0	0	0.003080	0	0
GNPAT	8443	broad.mit.edu	37	1	231406679	231406679	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:231406679G>T	ENST00000366647.4	+	10	1624	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	GNPAT_ENST00000366646.3_Silent_p.L424L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	485					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.L485L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGAACCAGCTGCTCAACATTT	0.473000													48	140					2.46787e-29	4.44217e-29	0.003610	1	0
DCTN3	11258	broad.mit.edu	37	9	34614163	34614163	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:34614163T>C	ENST00000341694.2	-	6	453	c.444A>G	c.(442-444)gcA>gcG	p.A148A	DCTN3_ENST00000378916.4_Intron|DCTN3_ENST00000259632.7_Intron|DCTN3_ENST00000479399.1_5'UTR|DCTN3_ENST00000477738.2_Intron|DCTN3_ENST00000447983.2_Intron	NM_024348.2	NP_077324.1	O75935	DCTN3_HUMAN	dynactin 3 (p22)	147					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity	p.A148A(1)		large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		CTAAACTTCCTGCCTCATCAC	0.517000													6	81					0	0	0.001984	0	0
CDH10	1008	broad.mit.edu	37	5	24491727	24491727	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24491727C>A	ENST00000264463.4	-	11	2341	c.1834G>T	c.(1834-1836)Ggg>Tgg	p.G612W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	612					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G612W(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAAGGCCCCAGTGCTGAGG	0.507000										HNSCC(23;0.051)			20	89					2.27731e-05	2.72026e-05	0.012319	1	0
NOTCH2	4853	broad.mit.edu	37	1	120459031	120459031	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:120459031C>A	ENST00000256646.2	-	34	6533	c.6314G>T	c.(6313-6315)cGg>cTg	p.R2105L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2105					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.R2105L(1)|p.R2105Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACTGGGCCGTCTAGACTT	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				16	65					1.67942e-08	2.32226e-08	0.006122	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37508354	37508354	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:37508354T>A	ENST00000374660.1	+	40	4002	c.3903T>A	c.(3901-3903)gaT>gaA	p.D1301E	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1182E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D1182E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D1182E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAATGTTGATGTGAGTAGTA	0.368000													14	39					0	0	0.001855	0	0
MYO9A	4649	broad.mit.edu	37	15	72191281	72191281	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72191281C>G	ENST00000356056.5	-	25	4035	c.3563G>C	c.(3562-3564)gGt>gCt	p.G1188A	MYO9A_ENST00000444904.1_Missense_Mutation_p.G1169A|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1188A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.G808A|MYO9A_ENST00000564571.1_Missense_Mutation_p.G1188A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1188	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.G1188A(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGGTCTGAACCCTGAATTTC	0.358000													7	182					0	0	0.003330	0	0
KCNT2	343450	broad.mit.edu	37	1	196227521	196227521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196227521G>T	ENST00000367433.5	-	25	3043	c.2942C>A	c.(2941-2943)tCg>tAg	p.S981*	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S939*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.S1005*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1005						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S1005*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGATGGTCCGACTGATCACT	0.493000													28	98					4.06085e-26	7.25946e-26	0.007291	1	0
OR5H15	403274	broad.mit.edu	37	3	97888436	97888436	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97888436T>G	ENST00000356526.2	+	1	893	c.893T>G	c.(892-894)aTa>aGa	p.I298R		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I298R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAGCAAGTCATAGTTTCATTC	0.318000													4	101					0	0	0.009096	0	0
TRBV28	28559	broad.mit.edu	37	7	142428720	142428720	+	RNA	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:142428720C>A	ENST00000390400.2	+	0	100																											ACCCAGAGCTCGAGATATCTA	0.448000													11	27					2.80697e-09	3.99793e-09	0.010729	1	0
ZNF556	80032	broad.mit.edu	37	19	2873608	2873608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:2873608C>A	ENST00000586426.1	+	2	205	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	ZNF556_ENST00000307635.2_Missense_Mutation_p.L40M			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L40M(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCAAGCACCTGGCCTCAGT	0.458000													16	64					1.67942e-08	2.32226e-08	0.006122	1	0
WDR16	146845	broad.mit.edu	37	17	9501631	9501631	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:9501631G>C	ENST00000352665.5	+	5	686	c.617G>C	c.(616-618)aGa>aCa	p.R206T	WDR16_ENST00000299764.5_Missense_Mutation_p.R216T|WDR16_ENST00000396219.3_Missense_Mutation_p.R138T	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	206						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.R206T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGTTGAAAAGAATAGTCATG	0.358000													7	72					0	0	0.003080	0	0
EREG	2069	broad.mit.edu	37	4	75250497	75250497	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:75250497C>T	ENST00000244869.2	+	5	648	c.482C>T	c.(481-483)tCa>tTa	p.S161L	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	161					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.S161L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			AGAGTTACCTCAGGGGATCCA	0.388000													6	39					0	0	0.001984	0	0
SLC6A19	340024	broad.mit.edu	37	5	1212464	1212464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:1212464G>A	ENST00000304460.10	+	4	584	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	176					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.W176*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTACTTCTGGTACCGAGAGA	0.622000													18	96					0	0	0.008871	0	0
MKI67	4288	broad.mit.edu	37	10	129906292	129906292	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:129906292C>T	ENST00000368654.3	-	13	4187	c.3812G>A	c.(3811-3813)aGa>aAa	p.R1271K	MKI67_ENST00000368653.3_Missense_Mutation_p.R911K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1271	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1271K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGATACTTCTCTTGGGTCG	0.498000													14	214					0	0	0.003163	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512569	58512569	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:58512569C>G	ENST00000588627.1	-	0	788																											TGTGCCTGATCTGTTTTGGCA	0.448000													6	56					0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9049864	9049864	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9049864A>G	ENST00000397910.4	-	5	31970	c.31767T>C	c.(31765-31767)tcT>tcC	p.S10589S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10591	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S10589S(1)|p.S6222S(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						GCTCACTAGAAGAAACATCTA	0.458000													15	71					0	0	0.002450	0	0
PLCB4	5332	broad.mit.edu	37	20	9368109	9368109	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9368109G>T	ENST00000378501.2	+	12	1079		c.e12-1		PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4						intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.?(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATATCCCTAGATGTGTTGAA	0.318000													43	58					3.21987e-24	5.70721e-24	0.003610	1	0
VPS16	64601	broad.mit.edu	37	20	2841893	2841893	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:2841893G>A	ENST00000380445.3	+	8	848	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.C259Y	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	259					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		p.C259Y(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GAGTTCAACTGCAACATCCGG	0.527000													33	120					0	0	0.003271	0	0
MYF5	4617	broad.mit.edu	37	12	81112769	81112769	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:81112769C>A	ENST00000228644.3	+	3	859	c.707C>A	c.(706-708)aCc>aAc	p.T236N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	236					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T236N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCAGCACCGATTCACAG	0.507000													12	91					2.27111e-07	3.00893e-07	0.001368	1	0
PAX3	5077	broad.mit.edu	37	2	223158868	223158868	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:223158868C>G	ENST00000409828.3	-	4	734	c.604G>C	c.(604-606)Ggg>Cgg	p.G202R	PAX3_ENST00000258387.5_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000409551.3_Intron|PAX3_ENST00000392069.2_Intron|PAX3_ENST00000392070.2_Intron|PAX3_ENST00000350526.4_Intron|PAX3_ENST00000336840.6_Intron	NM_000438.5	NP_000429.2	P23760	PAX3_HUMAN	paired box 3	0					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G202R(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGCGCCGCCCAAGGCGCCAC	0.622000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						9	88					0	0	0.004482	0	0
FLG2	388698	broad.mit.edu	37	1	152324299	152324299	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152324299G>T	ENST00000388718.5	-	3	6035	c.5963C>A	c.(5962-5964)tCc>tAc	p.S1988Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1988							calcium ion binding|structural molecule activity	p.S1988Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAACTGAGGATCCTGACTC	0.527000													149	404					1.55176e-64	2.86733e-64	0.003610	1	0
COL15A1	1306	broad.mit.edu	37	9	101807016	101807016	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:101807016G>T	ENST00000375001.3	+	26	3066		c.e26-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTGTTTTAGGGTGAACCTG	0.463000													4	43					1.23904e-05	1.49027e-05	0.000602	1	0
ZC3H11A	9877	broad.mit.edu	37	1	203816441	203816441	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:203816441C>T	ENST00000545588.1	+	12	4999	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S391F|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S391F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S391F|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S391F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	391							nucleic acid binding|protein binding|zinc ion binding	p.S391F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTGATGATTCTACTTCAGGA	0.418000													5	46					0	0	0.000602	0	0
LGI1	9211	broad.mit.edu	37	10	95552545	95552545	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:95552545G>T	ENST00000371418.4	+	6	809	c.549G>T	c.(547-549)tgG>tgT	p.W183C	LGI1_ENST00000371413.3_Missense_Mutation_p.W183C|LGI1_ENST00000542308.1_Missense_Mutation_p.W135C	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	183	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.W183C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AACTGAAATGGCTAGTGGAAT	0.473000													9	96					3.09899e-07	4.07987e-07	0.004482	1	0
DSCAM	1826	broad.mit.edu	37	21	41719760	41719760	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:41719760G>T	ENST00000400454.1	-	6	1524	c.1047C>A	c.(1045-1047)cgC>cgA	p.R349R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	349	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R349R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCACCATTGCGGTACCAGG	0.507000													56	109					1.13205e-32	2.0554e-32	0.003610	1	0
KCND2	3751	broad.mit.edu	37	7	119915484	119915484	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:119915484C>A	ENST00000331113.4	+	1	1763	c.798C>A	c.(796-798)gaC>gaA	p.D266E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	266					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.D266E(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GTATCATCGACGTGGTGGCCA	0.532000													9	59					7.48243e-07	9.64402e-07	0.006214	1	0
ZBTB3	79842	broad.mit.edu	37	11	62519813	62519813	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62519813T>C	ENST00000394807.3	-	2	1599	c.1474A>G	c.(1474-1476)Acg>Gcg	p.T492A		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T492A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTGTGCACCGTGGCATGTCGC	0.567000													7	50					0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679222	176679222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176679222C>A	ENST00000367662.3	+	11	4725	c.3561C>A	c.(3559-3561)taC>taA	p.Y1187*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1187					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.Y1187*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAAGGATACTTGGATCAAT	0.453000													39	126					1.03484e-13	1.63692e-13	0.005524	1	0
CDIPT	10423	broad.mit.edu	37	16	29872528	29872528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:29872528C>T	ENST00000219789.6	-	3	1109	c.231G>A	c.(229-231)atG>atA	p.M77I	CDIPT_ENST00000561555.1_Missense_Mutation_p.M101I|CDIPT_ENST00000563415.1_Missense_Mutation_p.M77I|CDIPT_ENST00000566113.1_Missense_Mutation_p.M32I|CDIPT_ENST00000569956.1_Missense_Mutation_p.M77I|CDIPT_ENST00000570016.1_Missense_Mutation_p.M77I	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	77						endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	p.M77I(1)		endometrium(1)|lung(3)	4						CCAACAGGCACATGGTGGAGC	0.582000													3	30					0	0	0.004672	0	0
FNBP4	23360	broad.mit.edu	37	11	47746181	47746181	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:47746181C>T	ENST00000263773.5	-	13	2170	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	720	Pro-rich.							p.E720K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ggaggtgattctggaggtgga	0.577000													6	75					0	0	0.001168	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399788	89399788	+	RNA	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:89399788G>A	ENST00000479981.1	-	0	66																											AAACAGAGCAGCAGGAGCCCC	0.502000													10	86					0	0	0.002450	0	0
HELZ	9931	broad.mit.edu	37	17	65197255	65197255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:65197255G>C	ENST00000358691.5	-	7	585	c.419C>G	c.(418-420)tCa>tGa	p.S140*	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Nonsense_Mutation_p.S140*	NM_014877.3	NP_055692.2			helicase with zinc finger									p.S140*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGTTTCTGAGAGAAGTGT	0.343000											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	153					0	0	0.001168	0	0
ADCY2	108	broad.mit.edu	37	5	7520894	7520894	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:7520894T>A	ENST00000338316.4	+	3	541	c.452T>A	c.(451-453)cTg>cAg	p.L151Q		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	151					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.L151Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TACACCATGCTGCCCTTCAAC	0.522000													27	88					0	0	0.005443	0	0
CD38	952	broad.mit.edu	37	4	15818249	15818249	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:15818249G>A	ENST00000226279.2	+	2	486	c.349G>A	c.(349-351)Gta>Ata	p.V117I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	117					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	p.V117I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AACTCAGACCGTACCTTGCAA	0.378000													5	100					0	0	0.000602	0	0
USP34	9736	broad.mit.edu	37	2	61441511	61441511	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61441511T>A	ENST00000398571.2	-	68	8442	c.8366A>T	c.(8365-8367)gAg>gTg	p.E2789V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2789					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E2789V(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATTGCTGGCTCAGAAAGTTT	0.373000													16	102					0	0	0.003163	0	0
CASP10	843	broad.mit.edu	37	2	202050751	202050751	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:202050751A>G	ENST00000286186.6	+	2	686	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	CASP10_ENST00000346817.5_Missense_Mutation_p.Y84C|CASP10_ENST00000272879.5_Missense_Mutation_p.Y84C|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Missense_Mutation_p.Y84C|CASP10_ENST00000448480.1_Missense_Mutation_p.Y84C|CASP10_ENST00000374650.3_Missense_Mutation_p.Y84C|CASP10_ENST00000313728.7_Missense_Mutation_p.Y84C	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	84	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.Y84C(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAACTCCTCTATATCATACGG	0.507000													12	54					0	0	0.002450	0	0
XPR1	9213	broad.mit.edu	37	1	180832881	180832881	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:180832881G>T	ENST00000367590.4	+	12	1737	c.1539G>T	c.(1537-1539)ctG>ctT	p.L513L	XPR1_ENST00000367589.3_Silent_p.L448L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	513	EXS.					integral to plasma membrane	G-protein coupled receptor activity	p.L513L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTTACCTGTGGATTGTCT	0.388000													54	147					7.41606e-26	1.31897e-25	0.003610	1	0
TRAV20	28663	broad.mit.edu	37	14	22509139	22509139	+	RNA	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:22509139C>T	ENST00000390448.3	+	0	146																											GACCAGGTGACGCAGAGTCCC	0.453000													25	71					0	0	0.008361	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32587436	32587436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:32587436G>C	ENST00000273130.4	-	3	345	c.242C>G	c.(241-243)aCa>aGa	p.T81R	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	81					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	p.T81R(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TATTAAGCTTGTTTTTCCAGC	0.323000													3	55					0	0	0.004672	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887306	155887306	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:155887306C>T	ENST00000368320.3	-	11	1449	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	KIAA0907_ENST00000368321.3_Missense_Mutation_p.G475E			Q7Z7F0	K0907_HUMAN	KIAA0907	475								p.G475E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCCAAGCAGTCCAGATTCCCG	0.483000													7	367					0	0	0.004482	0	0
CDYL	9425	broad.mit.edu	37	6	4735052	4735052	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:4735052G>C	ENST00000328908.5	+	3	291	c.160G>C	c.(160-162)Ggg>Cgg	p.G54R				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	54					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	p.G54R(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGAGCAAAGCGGGGCACAGCA	0.557000													14	49					0	0	0.003330	0	0
SLC39A12	221074	broad.mit.edu	37	10	18292251	18292251	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:18292251T>A	ENST00000377369.2	+	12	2184	c.1911T>A	c.(1909-1911)acT>acA	p.T637T	SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Silent_p.T503T|SLC39A12_ENST00000377371.3_Silent_p.T636T|SLC39A12_ENST00000377374.4_Silent_p.T600T	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	637					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.T600T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACAGTCACTGCTGGGATGT	0.373000													23	128					0	0	0.003330	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222414	8222414	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:8222414G>T	ENST00000361926.3	+	13	2233	c.2123G>T	c.(2122-2124)cGc>cTc	p.R708L	ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R708L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	708					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R708L(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTACCTTCCGCCTCTCCCTT	0.607000													35	63					1.36161e-19	2.36527e-19	0.004289	1	0
MRPL53	116540	broad.mit.edu	37	2	74699773	74699773	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:74699773C>A	ENST00000258105.7	-	1	676	c.15G>T	c.(13-15)ttG>ttT	p.L5F	MRPL53_ENST00000409710.1_Missense_Mutation_p.L5F	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	5						mitochondrion|ribosome		p.L5F(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CAAGCCGAGCCAAGGCAGCTG	0.592000													14	47					7.93312e-07	1.01622e-06	0.002450	1	0
SHANK2	22941	broad.mit.edu	37	11	70319477	70319477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:70319477C>A	ENST00000338508.4	-	33	5049	c.5050G>T	c.(5050-5052)Ggc>Tgc	p.G1684C	SHANK2_ENST00000449833.2_Missense_Mutation_p.G1088C|SHANK2_ENST00000423696.2_Missense_Mutation_p.G1304C|SHANK2_ENST00000409161.1_Missense_Mutation_p.G1087C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1304					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.G1684C(1)|p.G1088C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGGAGGTGCCGGGGCGAACA	0.592000													5	55					8.12818e-05	9.33534e-05	0.001984	1	0
C20orf85	128602	broad.mit.edu	37	20	56735845	56735845	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:56735845A>T	ENST00000371168.3	+	4	442	c.381A>T	c.(379-381)cgA>cgT	p.R127R		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	127								p.R127R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CTTTTGCACGAGAGCTGTGCT	0.612000													5	55					0	0	0.001168	0	0
RBP3	5949	broad.mit.edu	37	10	48387913	48387913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:48387913G>T	ENST00000224600.4	-	1	3078	c.2965C>A	c.(2965-2967)Ctg>Atg	p.L989M		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	989	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L989M(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCATCTGCAGGTCAGCCCCC	0.612000													7	85					3.09899e-07	4.07987e-07	0.004482	1	0
TOMM40L	84134	broad.mit.edu	37	1	161198067	161198067	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161198067G>T	ENST00000367988.3	+	7	845	c.576G>T	c.(574-576)ggG>ggT	p.G192G	TOMM40L_ENST00000367987.1_Silent_p.G192G|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Silent_p.G158G	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	192					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	p.G192G(1)		large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGAAGAGGGGGCCATCTTGA	0.597000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	68					2.31682e-05	2.75485e-05	0.003163	1	0
SFMBT2	57713	broad.mit.edu	37	10	7269847	7269847	+	Silent	SNP	C	C	A	rs143424241		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7269847C>A	ENST00000361972.4	-	10	1263	c.1173G>T	c.(1171-1173)gcG>gcT	p.A391A	SFMBT2_ENST00000397167.1_Silent_p.A391A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	391					regulation of transcription, DNA-dependent	nucleus		p.A391A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCTTCCTGCGCCCCATGCT	0.428000													24	48					1.42536e-11	2.17554e-11	0.004656	1	0
RGS7	6000	broad.mit.edu	37	1	241099998	241099998	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:241099998G>T	ENST00000366565.1	-	5	616	c.235C>A	c.(235-237)Ctc>Atc	p.L79I	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366563.1_Missense_Mutation_p.L79I|RGS7_ENST00000407727.1_Missense_Mutation_p.L79I|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.L79I|RGS7_ENST00000366564.1_Missense_Mutation_p.L79I|RGS7_ENST00000331110.7_Missense_Mutation_p.L53I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	79	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.L79I(2)|p.L79F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCAAATGGAGCGCCTCCACT	0.388000													21	121					7.87624e-14	1.25731e-13	0.002780	1	0
CEP57L1	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109484117C>T	ENST00000407272.1	+	13	1904	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	CEP57L1_ENST00000517392.1_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.R390*|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.R446*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.R460*	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	443						microtubule|microtubule organizing center		p.R443*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						TCATCCAATACGAGTTCATAA	0.358000													4	47					0	0	0.009096	0	0
SCRN2	90507	broad.mit.edu	37	17	45915787	45915787	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:45915787A>G	ENST00000407215.3	-	7	1049	c.968T>C	c.(967-969)aTg>aCg	p.M323T	SCRN2_ENST00000290216.9_Missense_Mutation_p.M323T|SCRN2_ENST00000584123.1_Missense_Mutation_p.M331T			Q96FV2	SCRN2_HUMAN	secernin 2	323			M -> V (in dbSNP:rs7350974).		proteolysis		dipeptidase activity	p.M323T(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGCCACCCCCATCCCGAAGAT	0.582000													7	143					0	0	0.010729	0	0
FSIP2	401024	broad.mit.edu	37	2	186672931	186672931	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:186672931C>A	ENST00000343098.5	+	17	19165	c.19165C>A	c.(19165-19167)Cct>Act	p.P6389T	FSIP2_ENST00000424728.1_Missense_Mutation_p.P6300T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2									p.P998T(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGAATTTCAACCTCAAGTAGA	0.303000													6	65					3.59834e-05	4.22097e-05	0.001168	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090850	91090850	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000504220.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P116Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCATTTTGCCGGATGAAATA	0.393000													29	65					5.84002e-05	6.81227e-05	0.012213	1	0
TTN	7273	broad.mit.edu	37	2	179411926	179411926	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179411926G>T	ENST00000589042.1	-	340	94550	c.94326C>A	c.(94324-94326)ggC>ggA	p.G31442G	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G22502G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.G28874G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.G29801G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Silent_p.G22569G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.G22377G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29801	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G28872G(1)|p.G28874G(1)|p.G22377G(1)|p.G22569G(1)|p.G22502G(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)			CAACCCAGTAGCCAATGATTT	0.443000													48	316					1.30916e-28	2.35244e-28	0.003610	1	0
STAC	6769	broad.mit.edu	37	3	36485037	36485037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:36485037G>T	ENST00000273183.3	+	2	593	c.293G>T	c.(292-294)aGg>aTg	p.R98M	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R98M	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	98					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.R98M(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ACACCCGCCAGGGCTGGTCTG	0.552000													24	84					3.28513e-13	5.14966e-13	0.003954	1	0
MUC7	4589	broad.mit.edu	37	4	71347134	71347134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:71347134C>A	ENST00000413702.1	+	4	961	c.673C>A	c.(673-675)Cca>Aca	p.P225T	MUC7_ENST00000456088.1_Missense_Mutation_p.P225T|MUC7_ENST00000304887.5_Missense_Mutation_p.P225T	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	225	Thr-rich.					extracellular region	protein binding	p.P225T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TACACCAGCTCCACCATCTTC	0.587000													10	161					5.50884e-06	6.74235e-06	0.001368	1	0
KCNH8	131096	broad.mit.edu	37	3	19554549	19554549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:19554549G>T	ENST00000328405.2	+	13	2433	c.2167G>T	c.(2167-2169)Gag>Tag	p.E723*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	723	Poly-Glu.					integral to membrane	two-component sensor activity	p.E723*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ggaggaagaggaggCAGTCTC	0.512000													11	36					1.58986e-06	2.01434e-06	0.008291	1	0
CNGB3	54714	broad.mit.edu	37	8	87656858	87656858	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:87656858A>G	ENST00000320005.5	-	9	1094	c.1047T>C	c.(1045-1047)taT>taC	p.Y349Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	349					signal transduction|visual perception	integral to membrane	cGMP binding	p.Y349Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACCTGTAGATATATGCTTTGT	0.353000													9	19					0	0	0.008291	0	0
WDR62	284403	broad.mit.edu	37	19	36562587	36562587	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:36562587G>T	ENST00000401500.2	+	8	1047	c.1012G>T	c.(1012-1014)Ggg>Tgg	p.G338W	WDR62_ENST00000388999.3_Missense_Mutation_p.G338W|WDR62_ENST00000270301.7_Missense_Mutation_p.G338W|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	338					cerebral cortex development	nucleus		p.G338W(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACACTACCTTGGGGTAGACGT	0.617000													6	58					8.12818e-05	9.33534e-05	0.001984	1	0
POU3F4	5456	broad.mit.edu	37	X	82764135	82764135	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:82764135G>C	ENST00000373200.2	+	1	867	c.803G>C	c.(802-804)aGc>aCc	p.S268T	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	268					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	p.S268T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCCCGACCAGCATTGACAAG	0.572000													7	22					0	0	0.001984	0	0
PARN	5073	broad.mit.edu	37	16	14540932	14540932	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:14540932T>A	ENST00000437198.2	-	23	1818	c.1677A>T	c.(1675-1677)acA>acT	p.T559T	PARN_ENST00000420015.2_Silent_p.T513T|PARN_ENST00000539279.1_Silent_p.T384T|PARN_ENST00000341484.7_Silent_p.T498T	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	559					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	p.T559T(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGCTGGGAGCTGTAAAACTGA	0.408000													7	44					0	0	0.003080	0	0
CDH9	1007	broad.mit.edu	37	5	26885733	26885733	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:26885733G>T	ENST00000231021.4	-	11	2044	c.1872C>A	c.(1870-1872)ctC>ctA	p.L624L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	624					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L624L(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						TAAGCAGTATGAGGACACAGA	0.483000													28	39					5.61819e-17	9.44507e-17	0.005443	1	0
WDR78	79819	broad.mit.edu	37	1	67303405	67303405	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:67303405T>A	ENST00000371026.3	-	10	1624	c.1569A>T	c.(1567-1569)atA>atT	p.I523I	WDR78_ENST00000371023.3_Silent_p.I523I|WDR78_ENST00000431318.1_Silent_p.I269I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	523								p.I523I(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGGGATTCTTTATTGACCAGC	0.318000													17	83					0	0	0.004990	0	0
GRIK5	2901	broad.mit.edu	37	19	42510926	42510926	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:42510926C>T	ENST00000262895.3	-	15	1907	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	GRIK5_ENST00000301218.4_Silent_p.T636T|GRIK5_ENST00000593562.1_Silent_p.T636T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	636						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.T636T(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCAGGTTGGCCGTGTAGGAGG	0.632000													6	25					0	0	0.001984	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997831	27997831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:27997831C>A	ENST00000441525.1	-	1	1735	c.1621G>T	c.(1621-1623)Gac>Tac	p.D541Y		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	541								p.D541Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCAAACGAGTCCGTATAGTTC	0.488000													45	45					6.57855e-14	1.05337e-13	0.009718	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369524	86369524	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:86369524T>A	ENST00000400286.2	-	2	1718	c.1120A>T	c.(1120-1122)Att>Ttt	p.I374F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	374						integral to membrane		p.I374F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGAATAATATTTCCCGCT	0.383000													8	63					0	0	0.004482	0	0
MMP13	4322	broad.mit.edu	37	11	102820906	102820906	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:102820906A>G	ENST00000260302.3	-	6	878	c.850T>C	c.(850-852)Tgt>Cgt	p.C284R	MMP13_ENST00000340273.4_Missense_Mutation_p.C284R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	284					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.C284R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAAGGGTCACATTTGTCTGGC	0.423000													15	257					0	0	0.004990	0	0
MANBA	4126	broad.mit.edu	37	4	103557061	103557061	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:103557061A>G	ENST00000226578.4	-	15	2217	c.2118T>C	c.(2116-2118)ggT>ggC	p.G706G	MANBA_ENST00000505239.1_Silent_p.G649G	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	706					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	p.G706G(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GATCTGACACACCATAGATAT	0.378000													9	49					0	0	0.006214	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72176331	72176331	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:72176331G>T	ENST00000555818.1	+	15	4569	c.4221G>T	c.(4219-4221)ctG>ctT	p.L1407L	SIPA1L1_ENST00000381232.3_Silent_p.L1386L|SIPA1L1_ENST00000358550.2_Silent_p.L1386L|SIPA1L1_ENST00000537413.1_Silent_p.L861L|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1407	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.L1407L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGACCCCTCTGACAAGGGAGA	0.557000													11	31					1.61879e-10	2.39041e-10	0.001368	1	0
CRNN	49860	broad.mit.edu	37	1	152382233	152382233	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152382233C>A	ENST00000271835.3	-	3	1387	c.1325G>T	c.(1324-1326)tGg>tTg	p.W442L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	442					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.W442L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCATCAACCCATTCCTCACC	0.582000													26	72					2.79863e-10	4.10361e-10	0.004656	1	0
PGM2L1	283209	broad.mit.edu	37	11	74053997	74053997	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:74053997C>T	ENST00000298198.4	-	11	1686	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	459					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	p.E459K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GATGCCATCTCAGCAACCACA	0.378000													13	148					0	0	0.002450	0	0
MYO3A	53904	broad.mit.edu	37	10	26457774	26457774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:26457774G>T	ENST00000265944.5	+	28	3411	c.3245G>T	c.(3244-3246)aGg>aTg	p.R1082M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1082	IQ 1.|IQ 2.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1082M(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGGAGAAAAGGAAAGAAAGC	0.328000													16	86					7.21436e-19	1.24082e-18	0.008871	1	0
TTC7B	145567	broad.mit.edu	37	14	91059911	91059911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:91059911C>A	ENST00000357056.2	-	19	2198	c.2077G>T	c.(2077-2079)Gct>Tct	p.A693S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.A676S			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	676							binding	p.A676S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGAGACGAAGCCACTTCCGAC	0.597000													8	60					0.000157383	0.000178402	0.003080	1	0
NRDE2	55051	broad.mit.edu	37	14	90764712	90764712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:90764712C>A	ENST00000354366.3	-	8	1790	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	NRDE2_ENST00000357904.3_Nonsense_Mutation_p.E289*	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing									p.E520*(1)									CAAAAGGGTTCAAAGAATTCC	0.537000													23	54					9.95505e-16	1.65232e-15	0.002299	1	0
TRBC2	28638	broad.mit.edu	37	7	142498757	142498757	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:142498757G>T	ENST00000466254.1	+	0	33																											ACCCGAGGTCGCTGTGTTTGA	0.577000													7	84					3.07112e-06	3.82151e-06	0.010729	1	0
NSUN3	63899	broad.mit.edu	37	3	93802949	93802949	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:93802949A>T	ENST00000314622.4	+	3	333		c.e3-1			NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3								methyltransferase activity	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTCTATTTCTAGGGAGATACT	0.328000													10	33					0	0	0.006214	0	0
EMR1	2015	broad.mit.edu	37	19	6921873	6921873	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:6921873C>T	ENST00000312053.4	+	14	1807	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	EMR1_ENST00000250572.8_Silent_p.I590I|EMR1_ENST00000450315.3_Silent_p.I413I|EMR1_ENST00000381404.4_Silent_p.I538I|EMR1_ENST00000381407.5_Silent_p.I449I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	590	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.I590I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTGCCGTTATCATGGCGTCTG	0.458000													6	78					0	0	0.001984	0	0
STK11IP	114790	broad.mit.edu	37	2	220477938	220477938	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220477938G>T	ENST00000456909.1	+	20	2618	c.2528G>T	c.(2527-2529)gGg>gTg	p.G843V	STK11IP_ENST00000295641.10_Missense_Mutation_p.G854V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	854					protein localization	cytoplasm	protein kinase binding	p.G843V(1)|p.G854V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		Aaggtgactggggagatgcgg	0.617000													20	37					4.96729e-08	6.74363e-08	0.008871	1	0
FMO5	2330	broad.mit.edu	37	1	146684991	146684991	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:146684991C>A	ENST00000254090.4	-	4	759	c.371G>T	c.(370-372)gGc>gTc	p.G124V	FMO5_ENST00000441068.2_Missense_Mutation_p.G124V|FMO5_ENST00000369272.3_Missense_Mutation_p.G124V|FMO5_ENST00000465173.1_5'UTR	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	124						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.G124V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TTCCCATTGGCCTGAAGTGGC	0.473000													10	337					2.74318e-10	4.03363e-10	0.006214	1	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529931	55529931	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:55529931A>G	ENST00000395468.3	+	3	791	c.614A>G	c.(613-615)tAt>tGt	p.Y205C		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	205	Pro-rich.							p.Y205C(1)		endometrium(2)|large_intestine(1)|lung(3)	6						CCAGCACCATATCCTGCCCCT	0.607000													3	100					0	0	0.004672	0	0
SPTA1	6708	broad.mit.edu	37	1	158623071	158623071	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158623071C>T	ENST00000368148.3	-	22	3361	c.3181G>A	c.(3181-3183)Gag>Aag	p.E1061K	SPTA1_ENST00000368147.3_Missense_Mutation_p.E1061K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1061					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E1061K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACTGGTTCTCAATCTGCTCC	0.507000													6	215					0	0	0.003080	0	0
DNAH7	56171	broad.mit.edu	37	2	196740521	196740521	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:196740521C>A	ENST00000312428.6	-	38	6264	c.6164G>T	c.(6163-6165)gGg>gTg	p.G2055V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2055	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G2055V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTTGAGCCCCATATACCTC	0.403000													21	60					1.22574e-08	1.71308e-08	0.002299	1	0
PDE4B	5142	broad.mit.edu	37	1	66458629	66458629	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:66458629G>A	ENST00000423207.2	+	1	525	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000329654.4_Intron	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			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)	TACTGCTTCTGAACCTGAGGT	0.393000													5	68					0	0	0.000602	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144225	91144225	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:91144225C>A	ENST00000371809.3	+	2	1235	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	385							binding	p.G385G(1)		endometrium(2)|large_intestine(3)|lung(8)	13						ACCACTACGGCCGTTTCCAAG	0.378000													13	41					6.31663e-08	8.54217e-08	0.003163	1	0
ZCCHC16	340595	broad.mit.edu	37	X	111698882	111698882	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:111698882A>C	ENST00000340433.2	+	1	1156	c.926A>C	c.(925-927)cAc>cCc	p.H309P		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	309							nucleic acid binding|zinc ion binding	p.H309P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACACAGCTCACCAGTAAGAG	0.438000													6	28					0	0	0.001984	0	0
TLR4	7099	broad.mit.edu	37	9	120474743	120474743	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:120474743C>A	ENST00000355622.6	+	3	438	c.337C>A	c.(337-339)Ccc>Acc	p.P113T	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.P73T	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	113					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.P113T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GACAGGAAACCCCATCCAGAG	0.443000													5	61					0.000602214	0.000659719	0.000602	1	0
ZSCAN25	221785	broad.mit.edu	37	7	99219026	99219026	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:99219026G>A	ENST00000394152.2	+	5	745	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E140K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E140K	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25									p.E140K(1)									AGAGCAGGAGGAAACAGCACT	0.567000													6	112					0	0	0.001168	0	0
COL2A1	1280	broad.mit.edu	37	12	48371152	48371152	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:48371152G>T	ENST00000380518.3	-	46	3388	c.3224C>A	c.(3223-3225)tCc>tAc	p.S1075Y	COL2A1_ENST00000337299.6_Missense_Mutation_p.S1006Y|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1075	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.S1006Y(1)|p.S1075Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGCCAGGGGAGCCAGGGGG	0.612000													8	88					7.48243e-07	9.64402e-07	0.006214	1	0
SERPINB2	5055	broad.mit.edu	37	18	61562575	61562575	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:61562575G>T	ENST00000457692.1	+	4	579	c.246G>T	c.(244-246)atG>atT	p.M82I	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.M82I	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	82					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.M82I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGGTTCATGCAGCAGATCC	0.428000													37	99					6.29468e-14	1.00947e-13	0.004878	1	0
FMO2	2327	broad.mit.edu	37	1	171165890	171165890	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171165890G>A	ENST00000441535.1	+	4	541	c.424G>A	c.(424-426)Gca>Aca	p.A142T	FMO2_ENST00000209929.7_Missense_Mutation_p.A142T|FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	142					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.A142T(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCTTTGACGCAGTTATGGT	0.488000													25	101					0	0	0.006320	0	0
WDR26	80232	broad.mit.edu	37	1	224586245	224586245	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:224586245C>T	ENST00000414423.2	-	11	1809	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q	WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.R392Q	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	539						cytoplasm|nucleus		p.R392Q(1)|p.R539Q(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CAAAGCTAATCGGCCATTTTT	0.279000													4	94					0	0	0.001168	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	80					0	0	0.009096	0	0
ASPM	259266	broad.mit.edu	37	1	197091598	197091598	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:197091598T>G	ENST00000367409.4	-	14	3774	c.3518A>C	c.(3517-3519)cAa>cCa	p.Q1173P	ASPM_ENST00000367408.1_Missense_Mutation_p.Q423P|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1173P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1173	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.Q1173P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAACCAGTTTGCGTACATTC	0.413000													14	40					0	0	0.001855	0	0
MICALCL	84953	broad.mit.edu	37	11	12315660	12315660	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:12315660C>T	ENST00000256186.2	+	3	973	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	228					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.R228C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AAAACCAGTCCGCCCCCTGCT	0.607000													4	66					0	0	0.009096	0	0
FCN2	2220	broad.mit.edu	37	9	137772709	137772709	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:137772709C>A	ENST00000350339.2	+	1	56	c.42C>A	c.(40-42)acC>acA	p.T14T	FCN2_ENST00000291744.6_Silent_p.T14T	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	14					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.T14T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCGCTGCCACCCTGCTGCTCT	0.617000													5	24					1.23904e-05	1.49027e-05	0.000602	1	0
ZNF136	7695	broad.mit.edu	37	19	12298356	12298356	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:12298356G>T	ENST00000343979.4	+	4	1303	c.1163G>T	c.(1162-1164)gGa>gTa	p.G388V	ZNF136_ENST00000398616.2_Missense_Mutation_p.G322V	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	388					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.G388V(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AAACATACTGGAGAAGGACCT	0.393000													4	35					0.00024832	0.000277863	0.009096	1	0
FUT11	170384	broad.mit.edu	37	10	75533499	75533499	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:75533499C>G	ENST00000372841.3	+	2	1303	c.1260C>G	c.(1258-1260)gcC>gcG	p.A420A	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Silent_p.A420A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	420					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.A420A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CCCACATTGCCCAGCCCTCAC	0.607000													9	74					0	0	0.006214	0	0
DAB2	1601	broad.mit.edu	37	5	39383025	39383025	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:39383025G>T	ENST00000320816.6	-	10	1503	c.1036C>A	c.(1036-1038)Caa>Aaa	p.Q346K	DAB2_ENST00000545653.1_Missense_Mutation_p.Q325K|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.Q325K	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	346					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.Q346K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGGTCAAATTGCTGACCAAAG	0.488000													6	139					2.0095e-06	2.53678e-06	0.001984	1	0
CYP2F1	1572	broad.mit.edu	37	19	41622361	41622361	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:41622361T>A	ENST00000331105.2	+	3	245	c.171_splice	c.e3-1	p.L58_splice		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	58					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.L58Q(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACCCTCAGCTGAGCAAGGAG	0.602000													18	141					0	0	0.006122	0	0
GBP6	163351	broad.mit.edu	37	1	89849314	89849314	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:89849314G>A	ENST00000370456.4	+	9	1561		c.e9+1		GBP6_ENST00000535065.1_Splice_Site	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6								GTP binding|GTPase activity	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GCAGTAGCAGGTATGGGGCAG	0.473000													10	125					0	0	0.010729	0	0
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:61513083C>A	ENST00000266070.4	-	16	4550	c.4225G>T	c.(4225-4227)Gag>Tag	p.E1409*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E1409*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602000													16	148					5.01169e-05	5.85258e-05	0.004990	1	0
SI	6476	broad.mit.edu	37	3	164786924	164786924	+	Missense_Mutation	SNP	C	C	A	rs138564183		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:164786924C>A	ENST00000264382.3	-	4	377	c.315G>T	c.(313-315)tgG>tgT	p.W105C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	105	P-type 1.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.W105C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGAAGAAGCACCAAGGAATAA	0.343000										HNSCC(35;0.089)			15	34					1.3612e-06	1.73093e-06	0.003163	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99300218	99300218	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:99300218G>A	ENST00000408927.3	+	5	525	c.412G>A	c.(412-414)Gac>Aac	p.D138N	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.D139N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.D139N|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000512857.1_Intron	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	138							binding|GTPase activator activity	p.D139N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GATTGTAATTGACCATTTAAG	0.383000			T	NUP98	T-ALL								33	107					0	0	0.012213	0	0
CHRNB1	1140	broad.mit.edu	37	17	7358658	7358658	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:7358658G>C	ENST00000306071.2	+	9	1167	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	CHRNB1_ENST00000576360.1_Missense_Mutation_p.R246T|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R295T	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	367					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	p.R367T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				AAACCCGAGAGAGACCTGATG	0.522000													4	153					0	0	0.009096	0	0
NOS1	4842	broad.mit.edu	37	12	117768666	117768666	+	Missense_Mutation	SNP	C	C	T	rs74738204		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:117768666C>T	ENST00000317775.6	-	2	894	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	NOS1_ENST00000338101.4_Missense_Mutation_p.R70Q|NOS1_ENST00000344089.3_Missense_Mutation_p.R70Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	70	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACCAAGGGCCGGCCGTTGAC	0.612000													5	48					0	0	0.000602	0	0
SPTA1	6708	broad.mit.edu	37	1	158612255	158612255	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158612255C>A	ENST00000368148.3	-	33	4863	c.4683G>T	c.(4681-4683)ctG>ctT	p.L1561L	SPTA1_ENST00000368147.3_Silent_p.L1561L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1561					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L1561L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGAGTTCCCCAGGTTGATGA	0.478000													11	138					3.07112e-06	3.82151e-06	0.010729	1	0
ZNF587	84914	broad.mit.edu	37	19	58369964	58369964	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58369964G>C	ENST00000339656.5	+	3	366	c.184G>C	c.(184-186)Gat>Cat	p.D62H	ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.D61H|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.62_62insH|ZNF587_ENST00000419854.1_Missense_Mutation_p.D19H|ZNF587B_ENST00000316462.4_3'UTR|ZNF814_ENST00000595295.1_3'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D62H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		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;0.0264)		TGGATCAAAAGATGAGGAGGC	0.502000													6	104					0	0	0.001984	0	0
DIRC1	116093	broad.mit.edu	37	2	189599405	189599405	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:189599405C>T	ENST00000308100.4	-	2	513	c.243G>A	c.(241-243)ttG>ttA	p.L81L	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	81								p.L81L(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TCACAGTATTCAATTCAGACC	0.403000													6	144					0	0	0.001168	0	0
GTF2A1	2957	broad.mit.edu	37	14	81670426	81670426	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81670426T>A	ENST00000553612.1	-	3	558	c.155A>T	c.(154-156)cAg>cTg	p.Q52L	GTF2A1_ENST00000434192.2_Missense_Mutation_p.Q13L	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	52					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	p.Q52L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGCCCTGGACTGCATTAGTTT	0.403000													13	38					0	0	0.001855	0	0
NOTCH2	4853	broad.mit.edu	37	1	120512153	120512153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:120512153C>G	ENST00000256646.2	-	6	1308	c.1089G>C	c.(1087-1089)atG>atC	p.M363I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	363	EGF-like 9; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.M363I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTGGGCACATGCAAGAGA	0.557000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				4	39					0	0	0.009096	0	0
BBS12	166379	broad.mit.edu	37	4	123664621	123664621	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:123664621G>A	ENST00000542236.1	+	3	1955	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	BBS12_ENST00000314218.3_Missense_Mutation_p.R525H	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	525					cellular protein metabolic process	cilium	ATP binding	p.R525H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGTGCCTATCGTTTGTATTAT	0.403000									Bardet-Biedl syndrome				11	99					0	0	0.008291	0	0
TCF25	22980	broad.mit.edu	37	16	89958629	89958629	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:89958629A>T	ENST00000263346.8	+	6	699	c.643A>T	c.(643-645)Aag>Tag	p.K215*	TCF25_ENST00000263347.7_De_novo_Start_InFrame	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	215					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.K215*(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTGTACCCCAAGTGCACATG	0.612000													4	16					0	0	0.000602	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838595	43838595	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:43838595C>T	ENST00000319294.6	+	7	954	c.923C>T	c.(922-924)aCg>aTg	p.T308M	UBASH3A_ENST00000398367.1_Missense_Mutation_p.T270M|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T270M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	308	SH3.					cytosol|nucleus		p.T308M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGGACCCCACGCAGCAGGAC	0.582000													11	83					0	0	0.008291	0	0
FAM3B	54097	broad.mit.edu	37	21	42718992	42718992	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:42718992G>T	ENST00000398652.3	+	7	633	c.567G>T	c.(565-567)ctG>ctT	p.L189L	FAM3B_ENST00000398647.3_Silent_p.L102L|FAM3B_ENST00000398646.3_Silent_p.L173L|FAM3B_ENST00000357985.2_Silent_p.L150L|FAM3B_ENST00000479810.2_3'UTR			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	150					apoptosis|insulin secretion	extracellular space	cytokine activity	p.L150L(1)		central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAAAATCCCTGCTCTTCATGG	0.527000													49	80					2.64514e-33	4.81941e-33	0.003610	1	0
PTPRB	5787	broad.mit.edu	37	12	70928675	70928675	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:70928675G>T	ENST00000334414.6	-	30	6186	c.6142C>A	c.(6142-6144)Ctg>Atg	p.L2048M	PTPRB_ENST00000451516.2_Missense_Mutation_p.L1740M|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.L1740M|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1960M|PTPRB_ENST00000538708.1_Missense_Mutation_p.L1740M|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.L1830M|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1830					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.L1830M(2)|p.L2048M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCATCTGCAGGATGAGGTCC	0.502000													14	49					4.7546e-09	6.69879e-09	0.004007	1	0
PLCB4	5332	broad.mit.edu	37	20	9352970	9352970	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9352970A>T	ENST00000378501.2	+	8	621	c.606A>T	c.(604-606)acA>acT	p.T202T	PLCB4_ENST00000278655.4_Silent_p.T202T|PLCB4_ENST00000414679.2_Silent_p.T202T|PLCB4_ENST00000334005.3_Silent_p.T202T|PLCB4_ENST00000378493.1_Silent_p.T202T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.T202T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	202					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.T202T(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAGCCCACAGCATTTTCTT	0.368000													6	89					0	0	0.001168	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960729	51960729	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:51960729C>A	ENST00000321424.3	-	2	785	c.719G>T	c.(718-720)cGc>cTc	p.R240L	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	240	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.R240L(1)|p.R240H(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACATCGAGGCGGACGGTACT	0.622000													12	25					1.5842e-08	2.19934e-08	0.001855	1	0
DPEP1	1800	broad.mit.edu	37	16	89696899	89696899	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:89696899G>A	ENST00000393092.3	+	2	372	c.81G>A	c.(79-81)atG>atA	p.M27I	DPEP1_ENST00000421184.1_Missense_Mutation_p.M27I|DPEP1_ENST00000261615.4_Missense_Mutation_p.M27I	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	27					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.M27I(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGAGGATCATGAGGGACTCCC	0.647000													4	54					0	0	0.000602	0	0
ADAM11	4185	broad.mit.edu	37	17	42855212	42855212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:42855212G>A	ENST00000200557.6	+	23	2220	c.2051G>A	c.(2050-2052)cGg>cAg	p.R684Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R484Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	684	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R684Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGGGAGCGCCGGATTTGCTCC	0.657000													11	51					0	0	0.010729	0	0
FLI1	2313	broad.mit.edu	37	11	128642833	128642833	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:128642833T>G	ENST00000344954.6	+	4	831	c.443T>G	c.(442-444)cTc>cGc	p.L148R	FLI1_ENST00000429175.2_Missense_Mutation_p.L181R|FLI1_ENST00000534087.1_Missense_Mutation_p.L148R|FLI1_ENST00000281428.8_Missense_Mutation_p.L115R|FLI1_ENST00000525560.1_Intron			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	181	PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L181R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCCACCACCCTCTACAACACG	0.527000			T	EWSR1	Ewing sarcoma								40	138					0	0	0.003610	0	0
LGI2	55203	broad.mit.edu	37	4	25005757	25005757	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:25005757T>C	ENST00000382114.4	-	8	1139	c.954A>G	c.(952-954)atA>atG	p.I318M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	318						extracellular region		p.I318M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GAGAGACCTCTATGTCTTGGA	0.483000													13	124					0	0	0.001368	0	0
IMPG2	50939	broad.mit.edu	37	3	100976422	100976422	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:100976422C>G	ENST00000193391.7	-	10	1291	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	368					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	p.L368L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGAGTTCCCCAGCAAAAAAT	0.398000													42	144					0	0	0.006999	0	0
RP1L1	94137	broad.mit.edu	37	8	10470559	10470559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10470559G>T	ENST00000382483.3	-	4	1272	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	350					intracellular signal transduction			p.T350K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGGCTGCCGTGAGGGCGCT	0.672000													27	65					3.73988e-18	6.39024e-18	0.006320	1	0
TTN	7273	broad.mit.edu	37	2	179615813	179615813	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179615813T>A	ENST00000360870.5	-	46	11536	c.11314A>T	c.(11314-11316)Aat>Tat	p.N3772Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9609							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATGTGGATTTTGCACAATA	0.348000													29	135					0	0	0.008361	0	0
CFTR	1080	broad.mit.edu	37	7	117243607	117243607	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:117243607G>T	ENST00000003084.6	+	17	2811	c.2679G>T	c.(2677-2679)ggG>ggT	p.G893G	CFTR_ENST00000454343.1_Silent_p.G832G	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	893	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	p.G893G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AAGACAAAGGGAATAGTACTC	0.378000									Cystic Fibrosis				14	52					2.31682e-05	2.75485e-05	0.003163	1	0
GMPS	8833	broad.mit.edu	37	3	155628515	155628515	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:155628515A>C	ENST00000496455.1	+	6	896	c.561A>C	c.(559-561)gcA>gcC	p.A187A	GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Silent_p.A88A	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	187	Glutamine amidotransferase type-1.				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.A187A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATATGGAGCACAGTTCCACC	0.353000			T	MLL	AML								10	59					0	0	0.008291	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682635	65682635	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:65682635C>T	ENST00000352385.2	-	13	2475	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	756	Fibronectin type-III 4.					integral to membrane|plasma membrane		p.V756I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCGCATGGACGTGGGCTGGA	0.512000													4	24					0	0	0.009096	0	0
C15orf32	145858	broad.mit.edu	37	15	93016280	93016280	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:93016280C>T	ENST00000333334.2	+	2	967	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	C15orf32_ENST00000556865.1_Missense_Mutation_p.L158F	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	158								p.L158F(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GAAGAGGCATCTTATGAGAGT	0.468000													10	79					0	0	0.008291	0	0
EPB41L2	2037	broad.mit.edu	37	6	131186759	131186759	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:131186759C>A	ENST00000337057.3	-	17	2927	c.2746G>T	c.(2746-2748)Ggt>Tgt	p.G916C	EPB41L2_ENST00000524581.1_Missense_Mutation_p.G294C|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G846C|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G916C|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G763C|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G617C|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G37C|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G658C|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G846C|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G658C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G722C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	916	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.G916F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GAATCACCACCAGCCCCGCCA	0.483000													8	58					5.18039e-06	6.39282e-06	0.003080	1	0
KCNT2	343450	broad.mit.edu	37	1	196285133	196285133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196285133C>A	ENST00000367433.5	-	20	2401	c.2300G>T	c.(2299-2301)gGa>gTa	p.G767V	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G717V|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G791V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	791						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G791V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAAGTCACTCCACACCTGAG	0.393000													6	47					2.0095e-06	2.53678e-06	0.001984	1	0
DMRT3	58524	broad.mit.edu	37	9	990652	990652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:990652G>T	ENST00000190165.2	+	2	1104	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	356			G -> V (in dbSNP:rs16927037).		cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.G356W(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCCTTGGCTGGGCCTCTGCA	0.577000													12	67					1.5842e-08	2.19934e-08	0.001855	1	0
SPHKAP	80309	broad.mit.edu	37	2	228846568	228846568	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:228846568A>T	ENST00000392056.3	-	12	5014	c.4968T>A	c.(4966-4968)gaT>gaA	p.D1656E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1627E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1656						cytoplasm	protein binding	p.D1675E(1)|p.D1656E(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCACGACATCTAGAAACT	0.502000													15	46					0	0	0.006122	0	0
NDUFA8	4702	broad.mit.edu	37	9	124910550	124910550	+	Silent	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:124910550T>G	ENST00000537618.1	-	3	331	c.222A>C	c.(220-222)atA>atC	p.I74I	NDUFA8_ENST00000373768.3_Silent_p.I74I			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	74	CHCH 2.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.K75*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	AGTGACGTTTTATCTGCCTGG	0.398000													7	80					0	0	0.004482	0	0
NDUFA8	4702	broad.mit.edu	37	9	124910549	124910549	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:124910549T>A	ENST00000537618.1	-	3	332	c.223A>T	c.(223-225)Aaa>Taa	p.K75*	NDUFA8_ENST00000373768.3_Nonsense_Mutation_p.K75*			P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	75	CHCH 2.				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.K75*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	CAGTGACGTTTTATCTGCCTG	0.393000													7	80					0	0	0.004482	0	0
HEATR3	55027	broad.mit.edu	37	16	50118121	50118121	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:50118121G>T	ENST00000299192.7	+	9	1400	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	HEATR3_ENST00000285767.4_Missense_Mutation_p.E317D|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	403							binding	p.E403D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCTTCAGTGAGTGCGGGGGAC	0.498000													17	50					1.37285e-15	2.27501e-15	0.004007	1	0
LINC00886	730091	broad.mit.edu	37	3	156528129	156528129	+	RNA	SNP	T	T	A	rs62278061	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:156528129T>A	ENST00000472943.1	-	0	148					NR_038387.1																						CTTGGTCCCCTGAGCTACATC	0.463000													53	115					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216251676	216251676	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216251676A>T	ENST00000366943.2	-	27	5713	c.5327T>A	c.(5326-5328)tTc>tAc	p.F1776Y	USH2A_ENST00000307340.3_Missense_Mutation_p.F1776Y|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1776	Laminin G-like 2.				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.F1776Y(1)		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)		ATTTAACCGGAAGGTCAATAT	0.373000										HNSCC(13;0.011)			15	506					0	0	0.004990	0	0
PCMTD1	115294	broad.mit.edu	37	8	52732947	52732947	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:52732947A>G	ENST00000360540.5	-	7	1444	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.S346S|PCMTD1_ENST00000544451.1_Silent_p.S270S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	346						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.S346S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTTTTAAAGATTCAGGGA	0.348000													3	86					0	0	0.009096	0	0
MYO18A	399687	broad.mit.edu	37	17	27493181	27493181	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27493181C>A	ENST00000527372.1	-	2	958	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	MYO18A_ENST00000531253.1_Missense_Mutation_p.G260C|MYO18A_ENST00000533112.1_Missense_Mutation_p.G260C|MYO18A_ENST00000354329.4_Missense_Mutation_p.G260C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	260	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.G260C(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCCTGCACCAGGCTCAGCA	0.627000													73	153					3.82405e-32	6.93109e-32	0.003610	1	0
CNTN5	53942	broad.mit.edu	37	11	99932105	99932105	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:99932105G>T	ENST00000524871.1	+	10	1432	c.1142G>T	c.(1141-1143)cGt>cTt	p.R381L	CNTN5_ENST00000527185.1_Missense_Mutation_p.R381L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R381L|CNTN5_ENST00000279463.3_Missense_Mutation_p.R381L|CNTN5_ENST00000418526.2_Missense_Mutation_p.R307L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	381	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R381L(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)		AATTCCTTTCGTGGACAATTA	0.393000													3	50					0.00024832	0.000277863	0.009096	1	0
BRWD3	254065	broad.mit.edu	37	X	79973080	79973080	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:79973080C>A	ENST00000373275.4	-	19	2439	c.2223G>T	c.(2221-2223)ggG>ggT	p.G741G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	741								p.G741G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCTACTAACCCCATTATTTA	0.378000													8	115					0.00448238	0.00478977	0.004482	1	0
FAM83B	222584	broad.mit.edu	37	6	54735190	54735190	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:54735190A>T	ENST00000306858.7	+	2	262	c.146A>T	c.(145-147)cAg>cTg	p.Q49L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	49								p.Q49L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTCTTGTCCAGGAACGAGTT	0.388000													8	114					0	0	0.003080	0	0
MTHFR	4524	broad.mit.edu	37	1	11855339	11855339	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:11855339C>T	ENST00000376592.1	-	5	975	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	MTHFR_ENST00000376585.1_Missense_Mutation_p.V324M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V283M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V324M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	283					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.V283M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GGCTCAATCACGTCCTTGATC	0.597000													5	49					0	0	0.000602	0	0
NTRK1	4914	broad.mit.edu	37	1	156846230	156846230	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:156846230C>T	ENST00000368196.3	+	13	1773	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	NTRK1_ENST00000392302.2_Silent_p.F521F|NTRK1_ENST00000358660.3_Silent_p.F554F|NTRK1_ENST00000524377.1_Silent_p.F557F	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	557	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F521Y(1)|p.F557Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGCAGGACTTCCAGCGTGAGG	0.642000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	48					0	0	0.001168	0	0
ASTN1	460	broad.mit.edu	37	1	176845691	176845691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176845691C>A	ENST00000367654.2	-	21	3482	c.3469G>T	c.(3469-3471)Gat>Tat	p.D1157Y	ASTN1_ENST00000367657.3_Missense_Mutation_p.D1149Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1149Y|ASTN1_ENST00000424564.2_Missense_Mutation_p.D1149Y			O14525	ASTN1_HUMAN	astrotactin 1	1157					cell migration|neuron cell-cell adhesion	integral to membrane		p.D1149Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACATCATCCACCACGGGG	0.577000													13	63					3.27435e-08	4.48024e-08	0.002450	1	0
USP6	9098	broad.mit.edu	37	17	5051907	5051907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:5051907C>A	ENST00000574788.1	+	30	4718	c.2488C>A	c.(2488-2490)Cta>Ata	p.L830I	USP6_ENST00000304328.5_Missense_Mutation_p.L513I|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.L830I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	830					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L830I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAATGGGGACCTACCCAAACC	0.408000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								50	92					8.00217e-19	1.37406e-18	0.003610	1	0
GLS	2744	broad.mit.edu	37	2	191792198	191792198	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:191792198T>G	ENST00000320717.3	+	12	1673	c.1415T>G	c.(1414-1416)tTt>tGt	p.F472C	GLS_ENST00000338435.4_Missense_Mutation_p.F472C|GLS_ENST00000409626.1_Missense_Mutation_p.F43C	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	472					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.F472C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCAGGGCAGTTTGCTTTCCAT	0.383000													15	68					0	0	0.006122	0	0
OR10G4	390264	broad.mit.edu	37	11	123887059	123887059	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:123887059A>G	ENST00000320891.4	+	1	778	c.778A>G	c.(778-780)Agg>Ggg	p.R260G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R260G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CATTTATCTGAGGCCAGGCTC	0.527000													8	72					0	0	0.003080	0	0
UQCR11	10975	broad.mit.edu	37	19	1599507	1599507	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:1599507C>T	ENST00000262946.4	-	2	177	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000585671.1_Missense_Mutation_p.A35T|UQCR11_ENST00000589880.1_Missense_Mutation_p.A35T|UQCR11_ENST00000591899.3_Missense_Mutation_p.A35T	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	35					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity	p.A35T(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						CAATCGGTGGCCCACACCAGC	0.572000													7	86					0	0	0.008291	0	0
SESTD1	91404	broad.mit.edu	37	2	179986599	179986599	+	Missense_Mutation	SNP	T	T	A	rs146149735	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179986599T>A	ENST00000428443.3	-	13	1656	c.1340A>T	c.(1339-1341)aAt>aTt	p.N447I		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	447					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.N447I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGATGCCTGATTGGAGATCTG	0.393000													10	60					0	0	0.006214	0	0
TTC16	158248	broad.mit.edu	37	9	130479240	130479240	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:130479240T>A	ENST00000373289.3	+	2	216	c.136T>A	c.(136-138)Tgt>Agt	p.C46S	PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000419060.1_Splice_Site	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	46							binding	p.C46S(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCAAAGCATCTGTGATGTAAA	0.557000													5	63					0	0	0.000602	0	0
PTENP1	11191	broad.mit.edu	37	9	33676715	33676715	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:33676715C>G	ENST00000532280.1	-	0	782					NR_023917.1																						TGGCGGGGCTCTGCAGGATGG	0.597000													19	45					0	0	0.007413	0	0
OR52E4	390081	broad.mit.edu	37	11	5905568	5905568	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5905568C>T	ENST00000316987.2	+	1	68	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L16L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTTCCTCCTGCTAGGAAT	0.428000													48	182					0	0	0.003610	0	0
MED13L	23389	broad.mit.edu	37	12	116420396	116420396	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:116420396C>A	ENST00000281928.3	-	22	5174	c.4968G>T	c.(4966-4968)agG>agT	p.R1656S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1656					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.R1656S(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTATTCTCTCCCTTTCTGTAA	0.458000													7	35					0.00307968	0.0033044	0.003080	1	0
TLK1	9874	broad.mit.edu	37	2	172016919	172016919	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172016919C>G	ENST00000360843.3	-	1	424	c.20G>C	c.(19-21)aGt>aCt	p.S7T	TLK1_ENST00000521943.1_Intron|TLK1_ENST00000431350.2_Missense_Mutation_p.S7T|TLK1_ENST00000442919.2_5'UTR			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	7					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.S7T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAAACTTCCACTGCTACTTTG	0.677000													18	123					0	0	0.006122	0	0
CCDC38	120935	broad.mit.edu	37	12	96292380	96292380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:96292380C>A	ENST00000344280.3	-	6	1056	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	167								p.E167*(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTCATTTTCTCGAAGGAAC	0.393000													28	124					3.65163e-15	5.99418e-15	0.006320	1	0
CXorf21	80231	broad.mit.edu	37	X	30577698	30577698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:30577698C>A	ENST00000378962.3	-	3	1097	c.775G>T	c.(775-777)Gag>Tag	p.E259*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	259								p.E259*(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGATTCTTCTCTCTAGACACT	0.423000													27	26					2.79863e-10	4.10361e-10	0.004656	1	0
DDX52	11056	broad.mit.edu	37	17	35980934	35980934	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:35980934T>A	ENST00000349699.2	-	12	1604	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	DDX52_ENST00000394367.3_Nonsense_Mutation_p.K413*	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	521	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.K521*(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AATAATGGCTTATCATCCTCA	0.299000													10	45					0	0	0.008291	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735864	172735864	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:172735864C>A	ENST00000506823.1	+	2	790	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Q45K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	45						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Q45K(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCCGGGGAGCAGCAGGTAAG	0.547000													3	24					2.56e-06	3.21231e-06	0.009096	1	0
OR52A5	390054	broad.mit.edu	37	11	5153245	5153245	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5153245G>A	ENST00000307388.1	-	1	627	c.628C>T	c.(628-630)Cta>Tta	p.L210L		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCAAACCCTAGGATTGCAAAG	0.423000													26	81					0	0	0.003330	0	0
ZNF415	55786	broad.mit.edu	37	19	53611692	53611692	+	Missense_Mutation	SNP	G	G	A	rs138184993	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53611692G>A	ENST00000455735.2	-	7	2070	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	ZNF415_ENST00000601493.1_Missense_Mutation_p.R306C|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000440291.1_Missense_Mutation_p.R523C|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.R584C|ZNF415_ENST00000421033.1_Missense_Mutation_p.R548C|ZNF415_ENST00000243643.4_Missense_Mutation_p.R536C|ZNF415_ENST00000500065.4_Missense_Mutation_p.R536C|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.R536C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGGTTTGGGCGCACACTAAAG	0.383000													27	127					0	0	0.006320	0	0
CSMD2	114784	broad.mit.edu	37	1	34401436	34401436	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:34401436C>A	ENST00000373381.4	-	4	813	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	173	CUB 2.					integral to membrane|plasma membrane	protein binding	p.G173C(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)				ACGGCGTGGCCCTCCAGGAAG	0.632000													14	55					2.31682e-05	2.75485e-05	0.003163	1	0
ACCS	84680	broad.mit.edu	37	11	44105128	44105128	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:44105128G>T	ENST00000263776.8	+	14	1842		c.e14+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.?(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTTTGCCTGGGTGAGCAGCCT	0.587000													6	68					3.59834e-05	4.22097e-05	0.001168	1	0
BIN2	51411	broad.mit.edu	37	12	51695872	51695872	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:51695872C>T	ENST00000267012.4	-	5	401	c.340G>A	c.(340-342)Gag>Aag	p.E114K	BIN2_ENST00000604560.1_Missense_Mutation_p.E87K|BIN2_ENST00000544402.1_Missense_Mutation_p.E88K|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	114	BAR.					cytoplasm	protein binding	p.E114K(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTTTCTCCTCGTAGTCTTCC	0.463000													7	44					0	0	0.003080	0	0
CLASP1	23332	broad.mit.edu	37	2	122106166	122106166	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:122106166C>A	ENST00000263710.4	-	38	4724	c.4335G>T	c.(4333-4335)atG>atT	p.M1445I	CLASP1_ENST00000541859.1_Missense_Mutation_p.M1162I|CLASP1_ENST00000397587.3_Missense_Mutation_p.M1385I|CLASP1_ENST00000545861.1_Missense_Mutation_p.M1152I|CLASP1_ENST00000541377.1_Missense_Mutation_p.M1384I|CLASP1_ENST00000455322.2_Missense_Mutation_p.M1401I|CLASP1_ENST00000409078.3_Missense_Mutation_p.M1378I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1445	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	p.M1445I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTTGGTCTGCATCTTGATGG	0.587000													3	33					0.00024832	0.000277863	0.009096	1	0
LONRF3	79836	broad.mit.edu	37	X	118145781	118145781	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:118145781T>C	ENST00000365713.2	+	7	1696	c.1533T>C	c.(1531-1533)ctT>ctC	p.L511L	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Silent_p.L552L|LONRF3_ENST00000422289.2_Silent_p.L296L|LONRF3_ENST00000304778.7_Silent_p.L511L			Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	552					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	p.L511L(1)|p.L552L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGACAGCCTTAATAAGAATG	0.448000													14	96					0	0	0.003163	0	0
PKP4	8502	broad.mit.edu	37	2	159519520	159519520	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:159519520G>C	ENST00000389757.3	+	14	2448	c.2323G>C	c.(2323-2325)Gag>Cag	p.E775Q	PKP4_ENST00000495123.1_3'UTR|PKP4_ENST00000389759.3_Missense_Mutation_p.E775Q|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	775					cell adhesion	desmosome	protein binding	p.E775Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACTAGGAAAAGAGTCTCCCAG	0.488000										HNSCC(62;0.18)			20	46					0	0	0.010504	0	0
KSR2	283455	broad.mit.edu	37	12	118020147	118020147	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:118020147G>A	ENST00000425217.1	-	6	1156	c.1102C>T	c.(1102-1104)Cgc>Tgc	p.R368C	KSR2_ENST00000302438.5_Missense_Mutation_p.R94C|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R397C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	397					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R94C(1)|p.R429C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGACCAGCGTGGCACTGAC	0.577000													8	107					0	0	0.004482	0	0
RGAG1	57529	broad.mit.edu	37	X	109694214	109694214	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:109694214T>A	ENST00000465301.2	+	3	615	c.369T>A	c.(367-369)tcT>tcA	p.S123S	RGAG1_ENST00000540313.1_Silent_p.S123S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	123								p.S123S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTTAGATTCTGGAACATTGT	0.522000													43	59					0	0	0.011902	0	0
SEC61A2	55176	broad.mit.edu	37	10	12198911	12198911	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:12198911G>C	ENST00000379033.3	+	7	703	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	SEC61A2_ENST00000298428.9_Missense_Mutation_p.E208Q|SEC61A2_ENST00000379020.4_Missense_Mutation_p.E208Q|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E208Q|SEC61A2_ENST00000495368.1_3'UTR	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	208						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.E208Q(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TACAGGTACTGAGTTTGAGGG	0.478000													13	133					0	0	0.002450	0	0
PRSS38	339501	broad.mit.edu	37	1	228003884	228003884	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228003884G>T	ENST00000366757.3	+	2	266	c.242G>T	c.(241-243)gGc>gTc	p.G81V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	81	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.G81V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACTACGCAGGCCTCCACGTC	0.672000													16	72					2.39187e-15	3.94489e-15	0.008871	1	0
WDFY3	23001	broad.mit.edu	37	4	85771119	85771119	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:85771119G>A	ENST00000322366.6	-	5	647	c.240C>T	c.(238-240)ttC>ttT	p.F80F	WDFY3_ENST00000295888.4_Silent_p.F80F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	80						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.F80F(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTGTTGTGAACTGCAGAA	0.368000													11	125					0	0	0.010729	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162369	142162369	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:142162369G>T	ENST00000390371.3	-	0	38																											CTCATGGCAGGTGCTCCAGGA	0.582000													16	43					1.99824e-07	2.66092e-07	0.004990	1	0
KIF5A	3798	broad.mit.edu	37	12	57958726	57958726	+	Silent	SNP	C	C	T	rs143178113		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:57958726C>T	ENST00000455537.2	+	6	745	c.471C>T	c.(469-471)caC>caT	p.H157H	KIF5A_ENST00000286452.5_Silent_p.H68H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	157	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.H157H(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						TGTCCGTGCACGAGGACAAGA	0.532000													5	45					0	0	0.000602	0	0
SLC26A3	1811	broad.mit.edu	37	7	107418628	107418628	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:107418628C>A	ENST00000340010.5	-	13	1690	c.1506G>T	c.(1504-1506)agG>agT	p.R502S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R467S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	502					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.R502S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAATTGGGTCCTGAACACGA	0.473000													4	29					0.00909568	0.00962096	0.009096	1	0
UGT1A9	54600	broad.mit.edu	37	2	234581233	234581233	+	Nonsense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234581233T>G	ENST00000354728.4	+	1	735	c.653T>G	c.(652-654)tTa>tGa	p.L218*	UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron	NM_021027.2	NP_066307.1												p.L218*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		GAGGAACATTTATTATGCCAC	0.433000													60	379					0	0	0.003610	0	0
ERMARD	55780	broad.mit.edu	37	6	170160823	170160823	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:170160823A>G	ENST00000588451.1	+	8	963	c.450A>G	c.(448-450)gaA>gaG	p.E150E	C6orf70_ENST00000366772.2_Silent_p.E276E|C6orf70_ENST00000366773.3_Silent_p.E276E|C6orf70_ENST00000392095.4_Silent_p.E150E|C6orf70_ENST00000418781.3_Silent_p.E276E			Q5T6L9	CF070_HUMAN		276						integral to membrane		p.E276E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CATATTGGGAAGTTGCACTGG	0.378000													5	23					0	0	0.000602	0	0
MMRN1	22915	broad.mit.edu	37	4	90857896	90857896	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:90857896C>A	ENST00000394980.1	+	7	3384	c.3065C>A	c.(3064-3066)aCc>aAc	p.T1022N	MMRN1_ENST00000508372.1_Missense_Mutation_p.T764N|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.T1022N			Q13201	MMRN1_HUMAN	multimerin 1	1022					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.T1022N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTAAATCTTACCACAGTCCTG	0.373000													7	61					1.12685e-05	1.36477e-05	0.004482	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	64					0.004672	0.00498219	0.004672	1	0
NXF4	55999	broad.mit.edu	37	X	101818366	101818366	+	RNA	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:101818366G>C	ENST00000360035.2	+	0	956					NR_002216.1													p.L71F(1)		endometrium(2)|lung(8)	10						CTGGAGACTTGGTGAAACATC	0.493000													18	24					0	0	0.004990	0	0
METTL13	51603	broad.mit.edu	37	1	171759628	171759628	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171759628G>T	ENST00000361735.3	+	5	1612	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	METTL13_ENST00000466643.1_Intron|METTL13_ENST00000367737.5_Missense_Mutation_p.R293L|METTL13_ENST00000458517.1_Missense_Mutation_p.R448L|METTL13_ENST00000362019.3_Missense_Mutation_p.R363L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	449							methyltransferase activity|protein binding	p.R449L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AAGAAGCAGCGGCCTGCTGAT	0.537000													29	95					2.68265e-12	4.13691e-12	0.002836	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6882188	6882188	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:6882188A>G	ENST00000419673.2	+	10	1083	c.866A>G	c.(865-867)gAc>gGc	p.D289G	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D271G|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D284G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D448G|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.D448G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D396G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D289G|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D289G	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	271					signal transduction	intracellular		p.D289G(1)|p.D448G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTTAAATGGGACAAAATGTGC	0.393000													4	86					0	0	0.000602	0	0
BPTF	2186	broad.mit.edu	37	17	65822303	65822303	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:65822303A>G	ENST00000321892.4	+	1	524	c.463A>G	c.(463-465)Acc>Gcc	p.T155A	BPTF_ENST00000306378.6_Missense_Mutation_p.T155A|BPTF_ENST00000335221.5_Missense_Mutation_p.T155A|BPTF_ENST00000424123.3_Missense_Mutation_p.T16A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	155	Asp-rich.|Glu-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.T155A(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGCCGAGGAGACCCAGGATTC	0.587000													3	38					0	0	0.009096	0	0
PGM2	55276	broad.mit.edu	37	4	37848688	37848688	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:37848688A>T	ENST00000381967.4	+	9	1244	c.1144A>T	c.(1144-1146)Aaa>Taa	p.K382*	PGM2_ENST00000544359.1_Nonsense_Mutation_p.K243*|PGM2_ENST00000537241.1_Nonsense_Mutation_p.K222*	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	382					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	p.K382*(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CGTCTCCTCCAAAATCTTGCG	0.478000													12	165					0	0	0.010729	0	0
ADAM33	80332	broad.mit.edu	37	20	3652837	3652837	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:3652837C>G	ENST00000356518.2	-	14	1782	c.1541G>C	c.(1540-1542)tGc>tCc	p.C514S	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.C514S|ADAM33_ENST00000379861.4_Missense_Mutation_p.C514S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	514	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.C514S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCATCCCAGCAGTAGCCACT	0.652000													30	32					0	0	0.009535	0	0
PRCP	5547	broad.mit.edu	37	11	82571045	82571045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:82571045C>A	ENST00000313010.3	-	2	477	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.D116Y	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	95					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	p.D95Y(1)|p.D116Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGATAATGTCCCCTTCATTA	0.328000													6	41					0.00198382	0.002144	0.001984	1	0
ZEB1	6935	broad.mit.edu	37	10	31810851	31810851	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:31810851C>G	ENST00000446923.2	+	7	2931	c.2540C>G	c.(2539-2541)cCa>cGa	p.P847R	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.P843R|ZEB1_ENST00000320985.10_Missense_Mutation_p.P863R|ZEB1_ENST00000542815.3_Missense_Mutation_p.P796R|ZEB1_ENST00000361642.5_Missense_Mutation_p.P864R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	863					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.P863R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGATCCAGCCAAATGGAAAT	0.423000													15	46					0	0	0.003163	0	0
TBX4	9496	broad.mit.edu	37	17	59556126	59556126	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:59556126T>G	ENST00000393853.4	+	6	851	c.688T>G	c.(688-690)Tac>Gac	p.Y230D	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.Y230D			P57082	TBX4_HUMAN	T-box 4	230					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y230D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTGACCTCCTACCAGAATCA	0.547000													13	116					0	0	0.001855	0	0
STK11IP	114790	broad.mit.edu	37	2	220473845	220473845	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220473845C>T	ENST00000456909.1	+	16	1926	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	STK11IP_ENST00000295641.10_Silent_p.P623P			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	623					protein localization	cytoplasm	protein kinase binding	p.P623P(1)|p.P612P(1)|p.P588P(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGCCCCCATCCTCAGTC	0.627000													7	4					0	0	0.006214	0	0
ZNF235	9310	broad.mit.edu	37	19	44791690	44791690	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44791690C>G	ENST00000291182.4	-	5	2000	c.1898G>C	c.(1897-1899)gGt>gCt	p.G633A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	633					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G633A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAAGGCCTTACCACAAGTGTC	0.448000													7	153					0	0	0.001984	0	0
AKR1C4	1109	broad.mit.edu	37	10	5242256	5242256	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:5242256G>C	ENST00000380448.1	+	4	450	c.197G>C	c.(196-198)cGa>cCa	p.R66P	AKR1C4_ENST00000263126.1_Missense_Mutation_p.R66P|AKR1CL1_ENST00000445191.1_Intron			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	66					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.R66P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CTGGCCATCCGAAGCAAGATT	0.428000													11	116					0	0	0.001368	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16855818	16855818	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:16855818G>A	ENST00000261652.2	-	2	153	c.141C>T	c.(139-141)tgC>tgT	p.C47C	TNFRSF13B_ENST00000579315.1_Silent_p.C47C|TNFRSF13B_ENST00000583789.1_Intron|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000437538.2_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	47					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.C47C(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGCAGGACATGCAGGTACCCA	0.597000									IgA Deficiency, Selective				7	35					0	0	0.001984	0	0
OR52E6	390078	broad.mit.edu	37	11	5862468	5862468	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5862468G>T	ENST00000329322.5	-	1	659	c.660C>A	c.(658-660)atC>atA	p.I220I	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.I224I	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I224I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATCCTGATATGGGAGA	0.468000													5	56					0.000602214	0.000659719	0.000602	1	0
CDH6	1004	broad.mit.edu	37	5	31317988	31317988	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:31317988G>T	ENST00000265071.2	+	11	2104	c.1839G>T	c.(1837-1839)acG>acT	p.T613T	CDH6_ENST00000514738.1_Silent_p.T558T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	613					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.T613T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTGAGCACGGGGGCTCTGG	0.592000													22	89					1.95232e-30	3.52634e-30	0.002780	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176364	142176364	+	RNA	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:142176364C>T	ENST00000390369.2	-	0	311																											CAGCTGAGTCCCCCTGCTCTG	0.572000													5	50					0	0	0.001168	0	0
HNRNPA3	220988	broad.mit.edu	37	2	178081436	178081436	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:178081436C>T	ENST00000411529.2	+	6	661	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R226C|HNRNPA3_ENST00000392524.2_Missense_Mutation_p.R226C	NM_194247.2	NP_919223.1	P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	226	RRM 2.					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R226C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TTTTATGGGTCGCGGAGGGAA	0.453000													8	202					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764826	77764826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77764826C>A	ENST00000521891.2	+	10	6117	c.5669C>A	c.(5668-5670)tCc>tAc	p.S1890Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1845Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1864Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1845Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1845						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1890Y(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)			AAGCAAAAATCCTTGGAACCA	0.433000										HNSCC(33;0.089)			9	20					9.70103e-10	1.39888e-09	0.008291	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138413517	138413517	+	Missense_Mutation	SNP	G	G	A	rs150175783	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:138413517G>A	ENST00000310018.2	-	18	2281	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R667W|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R667W	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	667					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.R667W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGGATTTCCGATGACTGGCT	0.433000													12	289					0	0	0.001368	0	0
DDX50	79009	broad.mit.edu	37	10	70695825	70695825	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:70695825G>T	ENST00000373585.3	+	11	1692	c.1585G>T	c.(1585-1587)Gat>Tat	p.D529Y	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	529						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.D529Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TAAAAGCATGGATGCCATCAG	0.323000													9	43					3.07112e-06	3.82151e-06	0.010729	1	0
SI	6476	broad.mit.edu	37	3	164710115	164710115	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:164710115G>T	ENST00000264382.3	-	42	4974	c.4912C>A	c.(4912-4914)Cca>Aca	p.P1638T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1638	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P1638T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCAGTACTGGGGTAACCATA	0.328000										HNSCC(35;0.089)			16	54					3.35478e-16	5.6128e-16	0.003163	1	0
ZP4	57829	broad.mit.edu	37	1	238049056	238049056	+	Splice_Site	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:238049056C>G	ENST00000366570.4	-	7	1128	c.970_splice	c.e7+1	p.D324_splice	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	324	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.D324H(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGGTCATACCTTTGGCAATC	0.507000													12	41					0	0	0.001368	0	0
XIRP2	129446	broad.mit.edu	37	2	168100183	168100183	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:168100183G>A	ENST00000409195.1	+	9	2370	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D761N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D539N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	586					actin cytoskeleton organization	cell junction	actin binding	p.D761N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCACAGAGAAGACGTTGAAAA	0.363000													6	44					0	0	0.001984	0	0
ELP4	26610	broad.mit.edu	37	11	31531341	31531341	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:31531341G>C	ENST00000395934.2	+	1	17	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L	ELP4_ENST00000350638.5_Missense_Mutation_p.V4L|ELP4_ENST00000379163.5_Missense_Mutation_p.V4L			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	4					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	p.V4L(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GATGGCGGCAGTGGCAACCTG	0.592000													3	54					0	0	0.004672	0	0
TPH2	121278	broad.mit.edu	37	12	72335436	72335436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:72335436G>C	ENST00000333850.3	+	2	319	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	60					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.E60Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCTGCTACCGAAAGTGGCAA	0.408000													8	56					0	0	0.003080	0	0
USPL1	10208	broad.mit.edu	37	13	31233061	31233061	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:31233061C>T	ENST00000255304.4	+	9	3189	c.2847C>T	c.(2845-2847)gcC>gcT	p.A949A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	949					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.A949A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGATATTGCCAGTGAGTCTG	0.413000													28	124					0	0	0.006320	0	0
DUS2	54920	broad.mit.edu	37	16	68109352	68109352	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:68109352G>A	ENST00000565263.1	+	14	1521	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	DUS2L_ENST00000432752.1_Missense_Mutation_p.G308R|DUS2L_ENST00000358896.6_Missense_Mutation_p.G343R	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		343					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	p.G343R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		AGAGCAGACAGGGGAGCCAGC	0.582000													3	20					0	0	0.009096	0	0
SALL3	27164	broad.mit.edu	37	18	76754668	76754668	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:76754668A>T	ENST00000536229.3	+	1	2987	c.2278A>T	c.(2278-2280)Agc>Tgc	p.S760C	SALL3_ENST00000575389.2_Missense_Mutation_p.S893C|SALL3_ENST00000537592.2_Missense_Mutation_p.S893C			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S893C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCGCGGGCAGCCCCGCCCT	0.731000													4	19					0	0	0.000602	0	0
CHIA	27159	broad.mit.edu	37	1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537000													14	131					0	0	0.001855	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357066	37357066	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:37357066G>T	ENST00000217420.1	+	2	1625	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	454					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.A454A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCACTTCGCGCTGCTCATGG	0.677000													19	33					4.35082e-09	6.16316e-09	0.010504	1	0
CACNA1E	777	broad.mit.edu	37	1	181765848	181765848	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:181765848C>G	ENST00000526775.1	+	45	6232	c.6067C>G	c.(6067-6069)Cga>Gga	p.R2023G	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2042G|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2085G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1974G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2036G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1649G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2066G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2085					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2085G(1)|p.R2042G(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGAGCGGGGACGATCAAAAGA	0.562000													11	37					0	0	0.010729	0	0
XIST	7503	broad.mit.edu	37	X	73064159	73064159	+	RNA	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:73064159C>A	ENST00000429829.1	-	0	8429					NR_001564.2																						GTACTTTGGACAAATATAAGA	0.363000													16	76					4.7546e-09	6.69879e-09	0.004007	1	0
NALCN	259232	broad.mit.edu	37	13	101726892	101726892	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:101726892G>T	ENST00000251127.6	-	36	4157	c.4076C>A	c.(4075-4077)aCt>aAt	p.T1359N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1359						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.T1359N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATTTCACAGTACCAAATAA	0.338000													10	88					1.76689e-08	2.43035e-08	0.006214	1	0
RP1L1	94137	broad.mit.edu	37	8	10468347	10468347	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10468347C>A	ENST00000382483.3	-	4	3484	c.3261G>T	c.(3259-3261)agG>agT	p.R1087S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1087					intracellular signal transduction			p.R1087S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCATCAGCGCCCTCATGATCT	0.687000													9	52					3.09899e-07	4.07987e-07	0.004482	1	0
TRIM60	166655	broad.mit.edu	37	4	165961467	165961467	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:165961467C>A	ENST00000512596.1	+	3	459	c.243C>A	c.(241-243)ctC>ctA	p.L81L	TRIM60_ENST00000508504.1_Silent_p.L81L|TRIM60_ENST00000341062.5_Silent_p.L81L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	81						intracellular	zinc ion binding	p.L81L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CTAAACAACTCCAGATTAGGA	0.438000													5	87					0.000602214	0.000659719	0.000602	1	0
SYDE2	84144	broad.mit.edu	37	1	85666082	85666082	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:85666082G>A	ENST00000341460.5	-	1	647	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	200					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	p.L122L(1)|p.L200L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGGGACAGCAGACGCCCTTTG	0.607000													12	166					0	0	0.002450	0	0
EPHA3	2042	broad.mit.edu	37	3	89390222	89390222	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:89390222G>A	ENST00000336596.2	+	4	1195		c.e4+1		EPHA3_ENST00000494014.1_Splice_Site|EPHA3_ENST00000452448.2_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3							extracellular region|integral to plasma membrane	ATP binding	p.?(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTTGTACCCGTGAGTAGTTT	0.443000										TSP Lung(6;0.00050)			5	183					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141609221	141609221	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141609221C>A	ENST00000389484.3	-	28	5682	c.4711_splice	c.e28+1	p.E1571_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1571				E -> G (in Ref. 2; AAL38108).	protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E1571*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAATTTACCATAGCAGGTC	0.373000										TSP Lung(27;0.18)			7	68					5.18039e-06	6.39282e-06	0.003080	1	0
ZNF829	374899	broad.mit.edu	37	19	37399297	37399297	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:37399297G>T	ENST00000520965.1	-	4	470	c.404C>A	c.(403-405)gCt>gAt	p.A135D	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.A54D	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A54D(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTGATCAGCGTCCAGGCA	0.433000													21	94					2.37509e-13	3.73433e-13	0.010504	1	0
ZNF644	84146	broad.mit.edu	37	1	91405710	91405710	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:91405710T>A	ENST00000370440.1	-	3	1418	c.1201A>T	c.(1201-1203)Act>Tct	p.T401S	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T401S|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T401S(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTACTGAAAGTAGCAGGTGAC	0.393000													34	105					0	0	0.003271	0	0
SLC25A12	8604	broad.mit.edu	37	2	172644379	172644379	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172644379G>A	ENST00000422440.2	-	16	1701	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	SLC25A12_ENST00000392592.4_Missense_Mutation_p.T448M	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	555					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	p.T555M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTGTATGTCGTCTGGCCAGC	0.557000													10	75					0	0	0.008291	0	0
KDM2B	84678	broad.mit.edu	37	12	121878685	121878685	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:121878685A>T	ENST00000377069.4	-	20	3743	c.3337T>A	c.(3337-3339)Tgg>Agg	p.W1113R	KDM2B_ENST00000377071.4_Missense_Mutation_p.W1182R|KDM2B_ENST00000542973.1_Missense_Mutation_p.W550R|KDM2B_ENST00000536437.1_Intron	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1182					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.W821R(1)|p.W1182R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTCCACCCACTGGACATCC	0.647000													5	57					0	0	0.000602	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140237074G>T	ENST00000307360.5	+	1	1441	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662000													38	64					6.97489e-18	1.18789e-17	0.004878	1	0
GABRG3	2567	broad.mit.edu	37	15	27777961	27777961	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:27777961G>T	ENST00000333743.6	+	10	1592	c.1338G>T	c.(1336-1338)cgG>cgT	p.R446R	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R446R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CGTACTCCCGGGTCTTTTTCC	0.478000													6	44					0.00198382	0.002144	0.001984	1	0
MUC3A	4584	broad.mit.edu	37	7	100552975	100552975	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:100552975G>A	ENST00000319509.7	+	2	1620	c.1620G>A	c.(1618-1620)caG>caA	p.Q540Q						mucin 3A, cell surface associated									p.Q540Q(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAGATGCCAGAATGGGGGTC	0.572000													4	78					0	0	0.000602	0	0
CAD	790	broad.mit.edu	37	2	27446822	27446822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27446822G>T	ENST00000264705.4	+	8	1195	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y	CAD_ENST00000403525.1_Missense_Mutation_p.D345Y	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	345	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.D345Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGCCCTTCAGATATGGAACT	0.507000													70	230					3.19358e-47	5.86988e-47	0.003610	1	0
ABHD8	79575	broad.mit.edu	37	19	17411939	17411939	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:17411939C>G	ENST00000247706.3	-	2	726	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	163							hydrolase activity	p.E163Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATGCGCTTCTCACAGTCAATA	0.667000													4	101					0	0	0.000602	0	0
LRGUK	136332	broad.mit.edu	37	7	133821833	133821833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:133821833G>T	ENST00000285928.2	+	2	424	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	119							ATP binding|kinase activity	p.G119W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCATCACTTGGGGCGCTCAGG	0.473000													15	32					1.52009e-12	2.36157e-12	0.003163	1	0
CNGB3	54714	broad.mit.edu	37	8	87641203	87641203	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:87641203A>T	ENST00000320005.5	-	12	1471	c.1424T>A	c.(1423-1425)gTg>gAg	p.V475E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	475					signal transduction|visual perception	integral to membrane	cGMP binding	p.V475E(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCGCTTTTGCACAAGTTTAGG	0.433000													31	205					0	0	0.008361	0	0
DAO	1610	broad.mit.edu	37	12	109294182	109294182	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:109294182C>A	ENST00000228476.3	+	11	1119	c.915C>A	c.(913-915)gtC>gtA	p.V305V	DAO_ENST00000551281.1_Silent_p.V239V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	305					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.V305V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TCTCCTAGGTCATCCACAACT	0.552000													16	60					1.99824e-07	2.66092e-07	0.004990	1	0
OR51V1	283111	broad.mit.edu	37	11	5221848	5221848	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5221848C>A	ENST00000321255.1	-	1	82	c.83G>T	c.(82-84)gGc>gTc	p.G28V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G28V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCCATGCCAGAAAATCC	0.448000													19	62					5.03518e-11	7.53113e-11	0.007413	1	0
ERCC6-PGBD3	101243544	broad.mit.edu	37	10	50724809	50724809	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:50724809C>T	ENST00000515869.1	-	6	1876	c.1756G>A	c.(1756-1758)Gac>Aac	p.D586N	PGBD3_ENST00000508005.2_Missense_Mutation_p.D118N|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D586N|PGBD3_ENST00000374127.3_Missense_Mutation_p.D118N|PGBD3_ENST00000603152.1_Missense_Mutation_p.D586N	NM_001277059.1	NP_001263988.1												p.D118N(1)									ACAGTTAGGTCGGCTTTTTTC	0.423000													9	68					0	0	0.004482	0	0
OR51V1	283111	broad.mit.edu	37	11	5220986	5220986	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5220986G>C	ENST00000321255.1	-	1	944	c.945C>G	c.(943-945)ctC>ctG	p.L315L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L315L(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGAGAAAAGAGTCTAAGCA	0.343000													5	54					0	0	0.001984	0	0
NWD1	284434	broad.mit.edu	37	19	16910855	16910855	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16910855G>A	ENST00000524140.2	+	17	4036	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R	NWD1_ENST00000549814.1_Silent_p.R1164R|NWD1_ENST00000523826.1_Silent_p.R1000R|NWD1_ENST00000552788.1_Silent_p.R1206R|NWD1_ENST00000379808.3_Silent_p.R1206R|NWD1_ENST00000339803.6_Silent_p.R1071R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1206							ATP binding	p.R1071R(1)|p.R1206R(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAGGTCCCGGGTGCCTGCAC	0.582000													4	41					0	0	0.009096	0	0
OR5B21	219968	broad.mit.edu	37	11	58275424	58275424	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:58275424T>C	ENST00000360374.2	-	1	154	c.155A>G	c.(154-156)cAt>cGt	p.H52R		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H52R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTGTGGAGATGGGAGTCTGA	0.498000													16	87					0	0	0.003163	0	0
KMO	8564	broad.mit.edu	37	1	241731862	241731862	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:241731862C>A	ENST00000366559.4	+	10	1183	c.872C>A	c.(871-873)tCt>tAt	p.S291Y	KMO_ENST00000366558.3_Missense_Mutation_p.S291Y|KMO_ENST00000366557.4_Missense_Mutation_p.S291Y	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	291					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.S291Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTAAAGTGCTCTTCATTTCAC	0.408000													11	99					3.07112e-06	3.82151e-06	0.010729	1	0
FAM47C	442444	broad.mit.edu	37	X	37027667	37027667	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:37027667C>A	ENST00000358047.3	+	1	1236	c.1184C>A	c.(1183-1185)cCc>cAc	p.P395H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	395								p.P395H(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGACCCCCAAGAATGGA	0.617000													27	29					5.61819e-17	9.44507e-17	0.005443	1	0
CASP10	843	broad.mit.edu	37	2	202074230	202074230	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:202074230G>C	ENST00000286186.6	+	9	1795	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	CASP10_ENST00000346817.5_Missense_Mutation_p.E411Q|CASP10_ENST00000272879.5_Missense_Mutation_p.E454Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.E411Q|CASP10_ENST00000313728.7_Missense_Mutation_p.E387Q	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	454					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	p.E454Q(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCATGTGGAGGAAGGCAGCTG	0.463000													14	112					0	0	0.004990	0	0
APOB	338	broad.mit.edu	37	2	21234901	21234901	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:21234901G>T	ENST00000233242.1	-	26	4966	c.4839C>A	c.(4837-4839)agC>agA	p.S1613R		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1613					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.S1613R(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGAAAGCAGGCTGAAGAACC	0.423000													19	74					5.3912e-06	6.62947e-06	0.006122	1	0
TTN	7273	broad.mit.edu	37	2	179594626	179594626	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179594626C>A	ENST00000589042.1	-	63	18578	c.18354G>T	c.(18352-18354)agG>agT	p.R6118S	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4874S|TTN_ENST00000591111.1_Missense_Mutation_p.R5801S|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5801	Ig-like 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4874S(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)			ACTGTCCATTCCTCAGCACTA	0.388000													9	36					7.48243e-07	9.64402e-07	0.006214	1	0
IGLV1-40	28825	broad.mit.edu	37	22	22764138	22764138	+	RNA	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:22764138C>A	ENST00000390299.2	+	0	41																											GCACTCAGGACAATCTCCAGC	0.597000											OREG0026360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3					6.4e-05	7.42564e-05	0.004672	1	0
ZNF217	7764	broad.mit.edu	37	20	52193386	52193386	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:52193386G>C	ENST00000371471.2	-	4	2342	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	ZNF217_ENST00000302342.3_Silent_p.L639L			O75362	ZN217_HUMAN	zinc finger protein 217	639					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.L639L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTCTACAGATGAGGTTATTTG	0.478000													12	292					0	0	0.001368	0	0
OR4A16	81327	broad.mit.edu	37	11	55111056	55111056	+	Missense_Mutation	SNP	C	C	A	rs144905099	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:55111056C>A	ENST00000314721.2	+	1	430	c.380C>A	c.(379-381)cCg>cAg	p.P127Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127Q(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCTCTAAGCCGCTGCACTAT	0.468000													24	171					2.44723e-14	3.94886e-14	0.004656	1	0
CASP1	834	broad.mit.edu	37	11	104905838	104905838	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:104905838C>A	ENST00000533400.1	-	1	38	c.3G>T	c.(1-3)atG>atT	p.M1I	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_5'UTR|CASP1_ENST00000527979.1_5'UTR|CASP1_ENST00000353247.5_Start_Codon_SNP_p.M1I|CASP1_ENST00000526568.1_Start_Codon_SNP_p.M1I|CASP1_ENST00000436863.3_Start_Codon_SNP_p.M1I|CASP1_ENST00000531166.1_Start_Codon_SNP_p.M1I|CASP1_ENST00000525825.1_Start_Codon_SNP_p.M1I|CASP1_ENST00000446369.1_Start_Codon_SNP_p.M1I|CASP1_ENST00000393136.4_Start_Codon_SNP_p.M1I|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000534497.1_Start_Codon_SNP_p.M1I	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	1	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.M1I(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	ACTCACCGGCCATGGCTTTTC	0.473000													22	158					5.35356e-11	7.97306e-11	0.002780	1	0
IL12RB2	3595	broad.mit.edu	37	1	67816592	67816592	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:67816592T>C	ENST00000262345.1	+	9	1718	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H	IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y360H|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y360H|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y360H	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	360	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.Y360H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AATTCTCCACTATCAGGTGAC	0.473000													11	62					0	0	0.010729	0	0
CALCRL	10203	broad.mit.edu	37	2	188245443	188245443	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:188245443G>T	ENST00000409998.1	-	7	1037	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.Q86K|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q86K			Q16602	CALRL_HUMAN	calcitonin receptor-like	86						integral to plasma membrane		p.Q86K(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGGCAGAGCTGCATTGATTCA	0.408000													4	59					0.00024832	0.000277863	0.009096	1	0
SSUH2	51066	broad.mit.edu	37	3	8673789	8673789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:8673789G>T	ENST00000317371.4	-	12	1505	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	SSUH2_ENST00000341795.3_Missense_Mutation_p.L94M|SSUH2_ENST00000544814.1_Missense_Mutation_p.L116M|SSUH2_ENST00000415132.1_Missense_Mutation_p.L94M					ssu-2 homolog (C. elegans)									p.L94M(1)									AAGGTCTCCAGACGGTACTAA	0.423000													7	30					0.00307968	0.0033044	0.003080	1	0
KYNU	8942	broad.mit.edu	37	2	143718265	143718265	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:143718265C>T	ENST00000264170.4	+	8	913	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	KYNU_ENST00000409512.1_Silent_p.L219L|KYNU_ENST00000375773.2_Silent_p.L219L	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	219					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.L219L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGCAGTGATCCTGTTCAGTGG	0.428000													7	110					0	0	0.003080	0	0
PHEX	5251	broad.mit.edu	37	X	22065243	22065243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:22065243G>A	ENST00000379374.4	+	3	828	c.263G>A	c.(262-264)tGg>tAg	p.W88*	PHEX_ENST00000537599.1_Nonsense_Mutation_p.W88*|PHEX_ENST00000535894.1_5'UTR	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	88					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.W88*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGATGGCTGGATAAGCAAT	0.398000													7	56					0	0	0.001984	0	0
HENMT1	113802	broad.mit.edu	37	1	109191437	109191437	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:109191437G>T	ENST00000370032.5	-	8	1353	c.933C>A	c.(931-933)gtC>gtA	p.V311V	HENMT1_ENST00000402983.1_Silent_p.V311V|HENMT1_ENST00000370031.1_Silent_p.V342V	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	311					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	p.V311V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CAAAGCATGGGACAGGGGCCT	0.512000													13	74					0.000219431	0.000247929	0.002450	1	0
CORO6	84940	broad.mit.edu	37	17	27945929	27945929	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27945929T>A	ENST00000345068.5	-	5	725	c.512A>T	c.(511-513)gAt>gTt	p.D171V	CORO6_ENST00000388767.3_Missense_Mutation_p.D171V|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.D171V|CORO6_ENST00000580212.1_Missense_Mutation_p.D171V|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000445145.2_Missense_Mutation_p.D171V			Q6QEF8	CORO6_HUMAN	coronin 6	171					actin cytoskeleton organization	actin cytoskeleton	actin filament binding	p.D171V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GTGCATATCATCCAGGCTCAG	0.587000													26	56					0	0	0.007291	0	0
ANKRD26	22852	broad.mit.edu	37	10	27306526	27306526	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:27306526C>T	ENST00000376087.4	-	30	4576	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1028K|ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1487K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1470						centrosome		p.E1471K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGACCAAGTTCTACCATATTC	0.318000													8	100					0	0	0.003080	0	0
EPHB2	2048	broad.mit.edu	37	1	23191648	23191648	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:23191648G>T	ENST00000400191.3	+	5	1264	c.1246G>T	c.(1246-1248)Gac>Tac	p.D416Y	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.D416Y|EPHB2_ENST00000544305.1_Missense_Mutation_p.D416Y|EPHB2_ENST00000374630.3_Missense_Mutation_p.D416Y|EPHB2_ENST00000374627.1_Missense_Mutation_p.D410Y	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	416	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.D416H(1)|p.D416Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGGCGTTACTGACCAGAGCCC	0.612000													17	72					1.67942e-08	2.32226e-08	0.006122	1	0
RBFOX1	54715	broad.mit.edu	37	16	7721569	7721569	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:7721569C>A	ENST00000355637.4	+	10	1213	c.961C>A	c.(961-963)Caa>Aaa	p.Q321K	RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.Q321K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.Q321K|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	301					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.Q321K(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						AGTAGTGTATCAAGAGCCTGT	0.353000													19	70					4.35082e-09	6.16316e-09	0.010504	1	0
PCNT	5116	broad.mit.edu	37	21	47819700	47819700	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:47819700G>T	ENST00000359568.5	+	25	4888	c.4781G>T	c.(4780-4782)gGg>gTg	p.G1594V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1594					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.G1594V(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATCGTGAAAGGGCTGGAACAG	0.522000													6	88					5.9392e-07	7.7121e-07	0.001168	1	0
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597000													65	420					6.25564e-26	1.11449e-25	0.003610	1	0
SPAG1	6674	broad.mit.edu	37	8	101174537	101174537	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:101174537G>T	ENST00000388798.2	+	2	220	c.29G>T	c.(28-30)tGg>tTg	p.W10L	SPAG1_ENST00000520643.1_Missense_Mutation_p.W10L|SPAG1_ENST00000520508.1_Missense_Mutation_p.W10L|SPAG1_ENST00000251809.3_Missense_Mutation_p.W10L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	10					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.W10L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CCATCATTGTGGGGCTTTGGA	0.279000													16	22					9.16793e-09	1.28474e-08	0.004990	1	0
TUBB3	10381	broad.mit.edu	37	16	90001147	90001147	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:90001147G>C	ENST00000304984.5	+	3	2367	c.72G>C	c.(70-72)ggG>ggC	p.G24G	TUBB3_ENST00000554444.1_Silent_p.G24G|TUBB3_ENST00000315491.7_Silent_p.G96G|TUBB3_ENST00000556922.1_Silent_p.G443G|TUBB3_ENST00000555576.1_Intron			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	96					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.G96G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GTCAGAGTGGGGCCGGCAACA	0.632000													13	31					0	0	0.001855	0	0
CNTN6	27255	broad.mit.edu	37	3	1424739	1424739	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:1424739G>C	ENST00000446702.2	+	18	2907	c.2280G>C	c.(2278-2280)agG>agC	p.R760S	CNTN6_ENST00000350110.2_Missense_Mutation_p.R760S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R688S			Q9UQ52	CNTN6_HUMAN	contactin 6	760	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.R760S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATCATCAAGGTTTGTCTACA	0.458000													25	85					0	0	0.003954	0	0
WDR72	256764	broad.mit.edu	37	15	53908074	53908074	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:53908074T>C	ENST00000396328.1	-	15	2568	c.2329A>G	c.(2329-2331)Aaa>Gaa	p.K777E	WDR72_ENST00000559418.1_Missense_Mutation_p.K787E|WDR72_ENST00000557913.1_Missense_Mutation_p.K774E|WDR72_ENST00000360509.5_Missense_Mutation_p.K777E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	777								p.K777E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGCTGCATTTTTTTGGAGATC	0.398000													19	146					0	0	0.010504	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250183	140250183	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140250183G>T	ENST00000398640.2	+	1	1495	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018902.3	NP_061725.1												p.G499C(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGGTTGGGCGACCGCGC	0.672000													37	83					1.30998e-17	2.22378e-17	0.005524	1	0
PTPN21	11099	broad.mit.edu	37	14	88940125	88940125	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:88940125C>G	ENST00000556564.1	-	14	2817	c.2533G>C	c.(2533-2535)Gat>Cat	p.D845H	PTPN21_ENST00000328736.3_Missense_Mutation_p.D845H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	845						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.D845H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTTTTGCATCTACTCGAGTC	0.403000													6	102					0	0	0.001168	0	0
DNM1L	10059	broad.mit.edu	37	12	32884849	32884849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:32884849G>T	ENST00000452533.2	+	12	1582	c.1418G>T	c.(1417-1419)cGt>cTt	p.R473L	DNM1L_ENST00000553257.1_Missense_Mutation_p.R486L|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.R473L|DNM1L_ENST00000414834.2_Missense_Mutation_p.R270L|DNM1L_ENST00000266481.6_Missense_Mutation_p.R473L|DNM1L_ENST00000381000.4_Missense_Mutation_p.R486L|DNM1L_ENST00000358214.5_Missense_Mutation_p.R486L|DNM1L_ENST00000547312.1_Missense_Mutation_p.R473L	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	473	Interaction with GSK3B.|Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.R473L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCTTCTTCGTAAAAGGTTG	0.318000													16	81					2.94398e-08	4.03879e-08	0.007413	1	0
ABCA8	10351	broad.mit.edu	37	17	66871472	66871472	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:66871472C>G	ENST00000269080.2	-	35	4577	c.4440G>C	c.(4438-4440)aaG>aaC	p.K1480N	ABCA8_ENST00000586539.1_Missense_Mutation_p.K1520N|ABCA8_ENST00000430352.2_Missense_Mutation_p.K1520N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1480						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.K1480N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTGCCAGGTTCTTCACCTTCA	0.488000													7	72					0	0	0.004482	0	0
DNAJC6	9829	broad.mit.edu	37	1	65851517	65851517	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:65851517G>T	ENST00000395325.3	+	7	909	c.752G>T	c.(751-753)tGt>tTt	p.C251F	DNAJC6_ENST00000371069.4_Missense_Mutation_p.C308F|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.C238F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	251	C2 tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.C251F(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGGAATGGATGTCGCCCTTAC	0.418000													12	72					5.50884e-06	6.74235e-06	0.001368	1	0
ZNF716	441234	broad.mit.edu	37	7	57522834	57522834	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:57522834C>A	ENST00000420713.1	+	3	334	c.222C>A	c.(220-222)ccC>ccA	p.P74P		NM_001159279.1	NP_001152751.1			zinc finger protein 716									p.P74P(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGCCCCAGAATATAA	0.403000													23	141					1.77063e-15	2.92954e-15	0.005443	1	0
OBSCN	84033	broad.mit.edu	37	1	228495862	228495862	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228495862G>T	ENST00000570156.2	+	58	15462	c.15388G>T	c.(15388-15390)Gat>Tat	p.D5130Y	OBSCN_ENST00000366707.4_Missense_Mutation_p.D1807Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D1292Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D4173Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4173Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4173	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.D4755Y(1)|p.D4173Y(1)|p.D4885Y(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGACGGCCGATGAGGATGT	0.592000													31	55					4.15321e-07	5.45403e-07	0.009535	1	0
RAB31	11031	broad.mit.edu	37	18	9775294	9775294	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:9775294C>T	ENST00000578921.1	+	2	300	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	19					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.S20L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GTTGGGAAATCAAGCATCGTG	0.473000													4	75					0	0	0.009096	0	0
ULK4	54986	broad.mit.edu	37	3	41953149	41953149	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:41953149C>A	ENST00000301831.4	-	10	1361	c.899G>T	c.(898-900)aGa>aTa	p.R300I	ULK4_ENST00000420927.1_Missense_Mutation_p.R300I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	300							ATP binding|protein serine/threonine kinase activity	p.R300I(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CATAGTGTTTCTGCTATTATT	0.388000													19	84					4.35082e-09	6.16316e-09	0.010504	1	0
FRMPD1	22844	broad.mit.edu	37	9	37746358	37746358	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:37746358A>C	ENST00000539465.1	+	16	4922	c.4329A>C	c.(4327-4329)ggA>ggC	p.G1443G	FRMPD1_ENST00000377765.3_Silent_p.G1443G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1443						cytoskeleton|cytosol|plasma membrane		p.G1443G(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)		GGGGGGTTGGAAACAAACATC	0.567000													8	7					0	0	0.003080	0	0
PCF11	51585	broad.mit.edu	37	11	82880813	82880813	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:82880813C>G	ENST00000298281.4	+	8	3888	c.3436C>G	c.(3436-3438)Cca>Gca	p.P1146A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1146					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		p.P1146A(1)|p.P1245A(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTTAATGCCCCATCCCAAGG	0.413000													10	38					0	0	0.006214	0	0
PTPRN	5798	broad.mit.edu	37	2	220164863	220164863	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220164863G>T	ENST00000295718.2	-	9	1520	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.P427H|PTPRN_ENST00000423636.2_Missense_Mutation_p.P337H	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	427					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.P427H(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAGGAGACAGGGCTTGGCAC	0.637000													17	99					1.33834e-09	1.91926e-09	0.007413	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383019	7383019	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:7383019G>C	ENST00000355637.4	+	1	269	c.17G>C	c.(16-18)gGa>gCa	p.G6A	RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G6A|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G6A|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000550418.1_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	p.G6A(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCGTCTCAAGGAGTTCTCCTG	0.488000													20	173					0	0	0.010504	0	0
ZNF536	9745	broad.mit.edu	37	19	30936268	30936268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:30936268C>A	ENST00000355537.3	+	2	1946	c.1799C>A	c.(1798-1800)cCt>cAt	p.P600H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P600H(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)					AAGCTCGACCCTTTAGAAAGC	0.527000													62	94					6.25564e-26	1.11449e-25	0.003610	1	0
CDH23	64072	broad.mit.edu	37	10	73464725	73464725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:73464725G>T	ENST00000224721.6	+	24	2811	c.2806G>T	c.(2806-2808)Gtg>Ttg	p.V936L	CDH23_ENST00000299366.7_Missense_Mutation_p.V976L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	931	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V936L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCATGCCGGTGGGCATGCC	0.672000													8	75					5.4927e-09	7.71788e-09	0.004482	1	0
ZNF71	58491	broad.mit.edu	37	19	57133628	57133628	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57133628C>T	ENST00000328070.6	+	3	1207	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	325						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P325S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGCGAGAAGCCCTACGTGTG	0.642000													15	62					0	0	0.004990	0	0
TEX14	56155	broad.mit.edu	37	17	56676440	56676440	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56676440C>G	ENST00000389934.3	-	14	2383	c.2266G>C	c.(2266-2268)Gat>Cat	p.D756H	TEX14_ENST00000349033.5_Missense_Mutation_p.D756H|TEX14_ENST00000240361.8_Missense_Mutation_p.D762H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	762						cytoplasm	ATP binding|protein kinase activity	p.D762H(1)|p.D756H(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)					TCGACTTCATCTAATATCTGC	0.433000													51	116					0	0	0.003610	0	0
PDILT	204474	broad.mit.edu	37	16	20373850	20373850	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20373850C>T	ENST00000302451.4	-	10	1540	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	431	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.G431D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATATTTTCTGCCCAATTCCTC	0.463000													8	51					0	0	0.003080	0	0
ZRANB3	84083	broad.mit.edu	37	2	135965138	135965138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:135965138C>G	ENST00000401392.1	-	19	3081	c.2869G>C	c.(2869-2871)Gaa>Caa	p.E957Q	ZRANB3_ENST00000264159.6_Missense_Mutation_p.E959Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E957Q			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	959						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	p.E959Q(1)|p.E422Q(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTTCAGTTTCAAATACTTTG	0.408000													22	304					0	0	0.002780	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702709	26702709	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:26702709G>T	ENST00000396005.3	-	12	1677	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.A456A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGTAAATGAAGGCCCCAATGG	0.463000													12	31					3.07112e-06	3.82151e-06	0.010729	1	0
MS4A14	84689	broad.mit.edu	37	11	60165337	60165337	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:60165337C>A	ENST00000300187.6	+	2	428	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	MS4A14_ENST00000395005.2_Missense_Mutation_p.L51M|MS4A14_ENST00000531783.1_Missense_Mutation_p.L51M|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	51						integral to membrane	receptor activity	p.L51M(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACCCAGATCCTGCTTGCTCT	0.488000													14	61					0.000219431	0.000247929	0.002450	1	0
PGM5	5239	broad.mit.edu	37	9	71006459	71006459	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:71006459C>A	ENST00000396396.1	+	5	936	c.707C>A	c.(706-708)cCt>cAt	p.P236H	PGM5_ENST00000396392.1_Missense_Mutation_p.P236H|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	236					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.P236H(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTTATGGGACCTTATGTGAGA	0.423000													9	44					4.68919e-08	6.38268e-08	0.008291	1	0
WDR74	54663	broad.mit.edu	37	11	62603205	62603205	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62603205G>C	ENST00000525239.1	-	6	1015	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.L160V|WDR74_ENST00000278856.4_Missense_Mutation_p.L160V|WDR74_ENST00000311713.7_Missense_Mutation_p.L160V|WDR74_ENST00000525752.1_Missense_Mutation_p.L103V			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	160						nucleolus		p.L160V(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GAGCCCTGCAGGTCCCATATC	0.572000													3	29					0	0	0.004672	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:108685637C>A	ENST00000397688.2	-	3	1466	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000312143.7_Missense_Mutation_p.R368M	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478000													31	121					8.4185e-14	1.34182e-13	0.012213	1	0
DCT	1638	broad.mit.edu	37	13	95117945	95117945	+	Missense_Mutation	SNP	C	C	G	rs142171852	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:95117945C>G	ENST00000377028.5	-	4	1218	c.805G>C	c.(805-807)Gat>Cat	p.D269H	DCT_ENST00000490854.1_5'UTR|DCT_ENST00000446125.1_Missense_Mutation_p.D269H	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	269					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.D269H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGAGTCGGATCGTCTGGTCTC	0.502000													4	47					0	0	0.009096	0	0
ULK1	8408	broad.mit.edu	37	12	132400970	132400970	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:132400970A>G	ENST00000321867.4	+	20	2257	c.1906A>G	c.(1906-1908)Acc>Gcc	p.T636A		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	636					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.T636A(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTTCCCGAAGACCCCCAGCTC	0.692000													11	59					0	0	0.001368	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239237850	239237850	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:239237850G>C	ENST00000373327.4	+	5	1004	c.782G>C	c.(781-783)aGa>aCa	p.R261T	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R261T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R261T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	261	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding	p.R261T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gagaaggagagactgagagac	0.592000													3	20					0	0	0.004672	0	0
FREM1	158326	broad.mit.edu	37	9	14823206	14823206	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:14823206C>A	ENST00000380881.4	-	14	3107	c.2292G>T	c.(2290-2292)ggG>ggT	p.G764G	FREM1_ENST00000422223.2_Silent_p.G763G|FREM1_ENST00000380880.3_Silent_p.G763G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	763					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.G764G(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAAAGCAGATCCCATGCAAAG	0.443000													43	81					1.57019e-19	2.71854e-19	0.007835	1	0
CD93	22918	broad.mit.edu	37	20	23065301	23065301	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:23065301G>T	ENST00000246006.4	-	1	1676	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	510					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.P510H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGCCTTGGGGGTGCCCTC	0.647000													34	114					5.04308e-16	8.4105e-16	0.006230	1	0
RBM44	375316	broad.mit.edu	37	2	238726120	238726120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:238726120G>T	ENST00000316997.4	+	3	693	c.561G>T	c.(559-561)caG>caT	p.Q187H	RBM44_ENST00000409864.1_Missense_Mutation_p.Q187H|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	186							nucleotide binding|RNA binding	p.Q187H(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACTCACAGCAGGAATATCACA	0.333000													7	14					0.00307968	0.0033044	0.003080	1	0
RNPS1	10921	broad.mit.edu	37	16	2312759	2312759	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2312759G>A	ENST00000565678.1	-	5	1049	c.504C>T	c.(502-504)ctC>ctT	p.L168L	RNPS1_ENST00000568631.1_Silent_p.L168L|RNPS1_ENST00000569598.2_Silent_p.L74L|RNPS1_ENST00000566458.1_Silent_p.L145L|RNPS1_ENST00000567147.1_Silent_p.L145L|RNPS1_ENST00000397086.2_Silent_p.L168L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000320225.5_Silent_p.L168L|RNPS1_ENST00000301730.8_Silent_p.L168L|RNPS1_ENST00000561718.1_5'UTR			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	168	Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CATTCCGGGTGAGTCTCCCAA	0.502000													8	87					0	0	0.003080	0	0
KIF18B	146909	broad.mit.edu	37	17	43013481	43013481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:43013481C>A	ENST00000587309.1	-	2	255	c.232G>T	c.(232-234)Gag>Tag	p.E78*	KIF18B_ENST00000593135.1_Nonsense_Mutation_p.E78*|KIF18B_ENST00000438933.2_Nonsense_Mutation_p.E78*|KIF18B_ENST00000339151.4_Nonsense_Mutation_p.E78*|KIF18B_ENST00000590129.1_Nonsense_Mutation_p.E87*	NM_001264573.1	NP_001251503.1			kinesin family member 18B									p.E78*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGGCCGCCTCGCCAAAGACC	0.612000													8	45					7.48243e-07	9.64402e-07	0.006214	1	0
SPZ1	84654	broad.mit.edu	37	5	79616044	79616044	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:79616044T>A	ENST00000296739.4	+	1	255	c.10T>A	c.(10-12)Tct>Act	p.S4T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S4T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATGGCCAGCTCTGCTAAGTC	0.468000													99	217					0	0	0.003610	0	0
PHLDB2	90102	broad.mit.edu	37	3	111686524	111686524	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:111686524G>T	ENST00000431670.2	+	15	3579		c.e15-1		PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site|PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site|PHLDB2_ENST00000495180.1_Splice_Site	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.?(3)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATAATGTTTAGGAACGGGAAA	0.368000													3	25					6.4e-05	7.42564e-05	0.004672	1	0
C3orf67	200844	broad.mit.edu	37	3	58849577	58849577	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:58849577G>C	ENST00000472469.1	-	11	1484	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V	C3orf67_ENST00000482387.1_Missense_Mutation_p.L309V|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.L309V			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	309								p.L309V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGGATGCCAGATATGAAATG	0.433000													3	75					0	0	0.004672	0	0
XRCC4	7518	broad.mit.edu	37	5	82554470	82554470	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:82554470G>T	ENST00000282268.3	+	7	1042	c.867G>T	c.(865-867)caG>caT	p.Q289H	XRCC4_ENST00000511817.1_Missense_Mutation_p.Q289H|XRCC4_ENST00000396027.4_Missense_Mutation_p.Q289H|XRCC4_ENST00000338635.6_Missense_Mutation_p.Q289H|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	289					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.Q289H(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)		TGGCTCCTCAGGAGAATCAGC	0.348000								Non-homologous end-joining					23	47					2.89027e-11	4.34164e-11	0.002299	1	0
SLC10A2	6555	broad.mit.edu	37	13	103698485	103698485	+	Nonstop_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:103698485A>C	ENST00000245312.3	-	6	1641	c.1045T>G	c.(1045-1047)Tag>Gag	p.*349E		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	0					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.*349E(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTGATGTCTACTTTTCGTCA	0.373000													13	58					0	0	0.001368	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539777	169539777	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:169539777T>A	ENST00000340806.6	+	1	68	c.68T>A	c.(67-69)gTc>gAc	p.V23D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	23								p.V23D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCACAGCACGTCAATGATAGA	0.343000													6	75					0	0	0.001168	0	0
UNC13C	440279	broad.mit.edu	37	15	54786898	54786898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:54786898C>A	ENST00000545554.1	+	19	5026	c.5026C>A	c.(5026-5028)Cct>Act	p.P1676T	UNC13C_ENST00000260323.11_Missense_Mutation_p.P1676T|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1674T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1676	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.P1676N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCGTGAACTTCCTGCCTTCAA	0.353000													14	138					7.93312e-07	1.01622e-06	0.002450	1	0
LRRC66	339977	broad.mit.edu	37	4	52861976	52861976	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:52861976C>G	ENST00000343457.3	-	4	1218	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	404						integral to membrane		p.L404L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTTGCCACAGTCTGTCAA	0.562000													20	61					0	0	0.002299	0	0
MIR3654	100500804	broad.mit.edu	37	11	62346149	62346149	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62346149G>A	ENST00000496634.2	-	5	1089	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	TUT1_ENST00000308436.7_Silent_p.L386L|TUT1_ENST00000476907.1_Silent_p.L348L														p.L348L(1)|p.L386L(1)		NS(1)	1						CACAGCCCCGGAGAATGGATC	0.622000													9	99					0	0	0.004482	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603652	111603652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:111603652G>T	ENST00000431670.2	+	2	1139	c.728G>T	c.(727-729)aGc>aTc	p.S243I	PHLDB2_ENST00000393925.3_Missense_Mutation_p.S243I|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S270I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	243						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.S243I(2)|p.S270I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGTACTCCAGCAGCAGCCTG	0.498000													23	85					3.28513e-13	5.14966e-13	0.003954	1	0
ZNF571	51276	broad.mit.edu	37	19	38056663	38056663	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:38056663A>G	ENST00000328550.2	-	4	766	c.667T>C	c.(667-669)Tat>Cat	p.Y223H	ZNF571_ENST00000358744.3_Missense_Mutation_p.Y223H|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.Y223H|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.Y223H|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y223H(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACACTGATAAGGTTTTTCA	0.388000													4	45					0	0	0.009096	0	0
SLFN11	91607	broad.mit.edu	37	17	33687322	33687322	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:33687322G>T	ENST00000394566.1	-	5	1410	c.1138C>A	c.(1138-1140)Cca>Aca	p.P380T	SLFN11_ENST00000308377.4_Missense_Mutation_p.P380T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	380						nucleus	ATP binding	p.P380T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTACACTGGTCTGCTAAGG	0.393000													28	83					7.41945e-09	1.04112e-08	0.005443	1	0
MCM4	4173	broad.mit.edu	37	8	48883377	48883377	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:48883377G>A	ENST00000262105.2	+	11	1950	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	MCM4_ENST00000523944.1_Missense_Mutation_p.E581K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	581	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.E581K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CAAGATGAATGAAAGTACAAG	0.478000													8	56					0	0	0.003080	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112308955	112308955	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:112308955C>G	ENST00000550735.2	+	7	1306	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.Q184E	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	184	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	p.Q184E(2)		endometrium(1)|lung(11)|ovary(1)	13						GATGACACCCCAGTTCACCCC	0.458000													4	122					0	0	0.009096	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947283	33947283	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:33947283G>A	ENST00000382102.3	-	6	1410	c.1353C>T	c.(1351-1353)cgC>cgT	p.R451R	SLC45A2_ENST00000342059.3_Silent_p.R392R|SLC45A2_ENST00000296589.4_Silent_p.R451R	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	451					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.R451R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTTCTTCCTCGCGGTGGTACT	0.517000													86	256					0	0	0.003610	0	0
DCAF17	80067	broad.mit.edu	37	2	172334560	172334560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172334560G>T	ENST00000375255.3	+	12	1573	c.1246G>T	c.(1246-1248)Gat>Tat	p.D416Y	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.D349Y	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	416						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		p.D416Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TAACCTTCTGGATGATGACCC	0.368000													11	22					9.31168e-06	1.13435e-05	0.001855	1	0
CHD4	1108	broad.mit.edu	37	12	6709529	6709529	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:6709529C>G	ENST00000309577.6	-	9	1259	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	CHD4_ENST00000357008.2_Missense_Mutation_p.E366Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E363Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E359Q			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	366					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.E366Q(2)		central_nervous_system(2)	2						TGGTCTGTCTCATAACCATCC	0.567000													5	69					0	0	0.003080	0	0
C1orf101	257044	broad.mit.edu	37	1	244716057	244716057	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:244716057G>T	ENST00000366534.4	+	9	1024	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	C1orf101_ENST00000366533.4_Missense_Mutation_p.D324Y|C1orf101_ENST00000366531.3_Missense_Mutation_p.D173Y|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	324						integral to membrane		p.D324Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAATCTTCCTGATGGTGGAAT	0.289000													7	79					1.04858e-14	1.70251e-14	0.006214	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99341260	99341260	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:99341260T>G	ENST00000408927.3	+	11	1378	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L423R|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L374R|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L423R|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L373R|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L331R	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	422							binding|GTPase activator activity	p.L423R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAGTTCAAACTTCTGGGAACA	0.343000			T	NUP98	T-ALL								12	61					0	0	0.010729	0	0
ZNF28	7576	broad.mit.edu	37	19	53303365	53303365	+	Missense_Mutation	SNP	G	G	A	rs139244544		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53303365G>A	ENST00000438150.2	-	2	2467	c.1574C>T	c.(1573-1575)cCg>cTg	p.P525L	ZNF28_ENST00000457749.2_Missense_Mutation_p.P578L|ZNF28_ENST00000360272.4_Missense_Mutation_p.P525L|ZNF28_ENST00000414252.2_Missense_Mutation_p.P525L			P17035	ZNF28_HUMAN	zinc finger protein 28	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P525L(2)|p.P578L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACATTTGTACGGTTTCTCTCC	0.423000													46	158					0	0	0.011902	0	0
DUSP21	63904	broad.mit.edu	37	X	44703540	44703540	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:44703540C>A	ENST00000339042.4	+	1	292	c.162C>A	c.(160-162)gcC>gcA	p.A54A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	54	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.A54A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TTGTCAATGCCTCGGTGGAAG	0.507000													34	41					3.76114e-14	6.05961e-14	0.004289	1	0
RFX5	5993	broad.mit.edu	37	1	151314798	151314798	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:151314798C>T	ENST00000290524.4	-	11	1893	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	RFX5_ENST00000452671.2_Missense_Mutation_p.R572K|RFX5_ENST00000452513.2_Missense_Mutation_p.R532K|RFX5_ENST00000368870.2_Missense_Mutation_p.R572K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	572						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R572K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CTTTTGGCTTCTGCTGCCCTT	0.483000													8	189					0	0	0.004482	0	0
GGNBP2	79893	broad.mit.edu	37	17	34935847	34935847	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:34935847G>C	ENST00000304718.4	+	8	1334	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	340					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.E340Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAAGAGTTTTGAGGTAAGAAC	0.443000													6	131					0	0	0.001984	0	0
CDH8	1006	broad.mit.edu	37	16	61854915	61854915	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:61854915T>A	ENST00000577390.1	-	6	1892	c.938A>T	c.(937-939)tAt>tTt	p.Y313F	CDH8_ENST00000299345.6_Missense_Mutation_p.Y313F|CDH8_ENST00000584337.1_Missense_Mutation_p.Y313F|CDH8_ENST00000577730.1_Missense_Mutation_p.Y313F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	313	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y313F(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)		GATGATATCATATGATGACTG	0.438000													5	38					0	0	0.001168	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525883	176525883	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176525883G>C	ENST00000367662.3	+	2	1589	c.425G>C	c.(424-426)gGa>gCa	p.G142A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G142A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	142					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G142A(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCTGCTGGGAGATGATGAC	0.562000													37	130					0	0	0.004289	0	0
NALCN	259232	broad.mit.edu	37	13	102030993	102030993	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:102030993G>T	ENST00000251127.6	-	4	384	c.303C>A	c.(301-303)tcC>tcA	p.S101S	NALCN_ENST00000376196.3_Silent_p.S101S|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.S101S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	101						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.S101S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTCACATAGGAACTATCCC	0.303000													13	71					1.05317e-09	1.51657e-09	0.002450	1	0
SATL1	340562	broad.mit.edu	37	X	84362524	84362524	+	Missense_Mutation	SNP	G	G	T	rs146269642		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:84362524G>T	ENST00000509231.1	-	1	1530	c.1451C>A	c.(1450-1452)cCg>cAg	p.P484Q	SATL1_ENST00000332921.5_Missense_Mutation_p.P297Q|SATL1_ENST00000395409.3_Missense_Mutation_p.P297Q			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	297	N-acetyltransferase.						N-acetyltransferase activity	p.P484Q(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACTCGGCCCCGGTTCCCATAT	0.577000													11	60					0.000673444	0.000735435	0.008291	1	0
ZNF831	128611	broad.mit.edu	37	20	57767923	57767923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:57767923C>A	ENST00000371030.2	+	1	1849	c.1849C>A	c.(1849-1851)Cag>Aag	p.Q617K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	617						intracellular	nucleic acid binding|zinc ion binding	p.Q617K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGTTCTCCCAGGAGAAGTG	0.587000													34	83					3.09479e-21	5.41199e-21	0.006999	1	0
PTGS2	5743	broad.mit.edu	37	1	186646911	186646911	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:186646911C>G	ENST00000367468.5	-	5	645	c.509G>C	c.(508-510)aGa>aCa	p.R170T	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	170					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R170T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAACTTTCTTCTTAGAAGCAA	0.393000													6	90					0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	41450679	41450679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:41450679C>A	ENST00000400454.1	-	26	5123	c.4646G>T	c.(4645-4647)cGg>cTg	p.R1549L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1549	Fibronectin type-III 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.R1549L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCACACCCGCATCTGCAG	0.572000													10	27					4.68919e-08	6.38268e-08	0.008291	1	0
KPRP	448834	broad.mit.edu	37	1	152733726	152733726	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152733726G>C	ENST00000368773.1	+	2	1720	c.1662G>C	c.(1660-1662)cgG>cgC	p.R554R	KPRP_ENST00000606109.1_Silent_p.R554R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	554						cytoplasm		p.R554R(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGAGCGGAGGGGTCAGG	0.542000													10	88					0	0	0.006214	0	0
PTH2R	5746	broad.mit.edu	37	2	209307110	209307110	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:209307110T>A	ENST00000272847.2	+	5	646	c.433T>A	c.(433-435)Tat>Aat	p.Y145N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	145						integral to plasma membrane	parathyroid hormone receptor activity	p.Y145N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGAACGCCTCTATGTAATGTA	0.398000													60	196					0	0	0.003610	0	0
RPS13	6207	broad.mit.edu	37	11	17097027	17097027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:17097027G>A	ENST00000525634.1	-	4	440	c.295C>T	c.(295-297)Cga>Tga	p.R99*	RPS13_ENST00000228140.2_Nonsense_Mutation_p.R99*|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	99					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	p.R99*(1)|p.R99G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGATGCTTTCGAACAGCAACT	0.353000													10	43					0	0	0.010729	0	0
GABRG2	2566	broad.mit.edu	37	5	161530945	161530945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:161530945G>T	ENST00000356592.3	+	6	1142	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	GABRG2_ENST00000361925.4_Nonsense_Mutation_p.E228*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.E133*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.E268*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	228					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.E228*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAGTTCTGTTGAAGTGGGCGA	0.398000													13	41					5.50884e-06	6.74235e-06	0.001368	1	0
PTPRH	5794	broad.mit.edu	37	19	55715354	55715354	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:55715354A>T	ENST00000376350.3	-	5	704	c.682T>A	c.(682-684)Tgg>Agg	p.W228R	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	228	Fibronectin type-III 3.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.W228R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGACCTCCCAGCTCAGGGAG	0.537000													16	97					0	0	0.003163	0	0
TTN	7273	broad.mit.edu	37	2	179611894	179611894	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179611894C>G	ENST00000360870.5	-	46	15455	c.15233G>C	c.(15232-15234)gGa>gCa	p.G5078A	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1185	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAGTCTCTCCTGGGGGTGT	0.552000													36	84					0	0	0.003271	0	0
EPHB1	2047	broad.mit.edu	37	3	134884855	134884855	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:134884855G>T	ENST00000398015.3	+	8	2001	c.1631G>T	c.(1630-1632)gGc>gTc	p.G544V	EPHB1_ENST00000493838.1_Missense_Mutation_p.G105V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	544						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G544V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGATTGCTGGCTCGGCAGCG	0.552000													21	147					4.26978e-12	6.56502e-12	0.003330	1	0
ZNF827	152485	broad.mit.edu	37	4	146813424	146813424	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:146813424G>C	ENST00000508784.1	-	3	1464	c.1237C>G	c.(1237-1239)Cgc>Ggc	p.R413G	ZNF827_ENST00000379448.4_Missense_Mutation_p.R413G|ZNF827_ENST00000513320.1_Missense_Mutation_p.R63G			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R413G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTGTCCTTGCGAGCACACCGG	0.507000													17	61					0	0	0.012319	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750198	140750198	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140750198C>A	ENST00000576222.1	+	1	368	c.237C>A	c.(235-237)ccC>ccA	p.P79P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGAGCCCCGAAAATGGGA	0.498000													81	190					1.3466e-33	2.46209e-33	0.003610	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616325	77616325	+	Translation_Start_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77616325T>A	ENST00000521891.2	+	2	450	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Start_Codon_SNP_p.M1K|ZFHX4_ENST00000518282.1_Start_Codon_SNP_p.M1K|ZFHX4_ENST00000050961.6_Start_Codon_SNP_p.M1K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1K(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)			GCAATTGCCATGGAAACCTGT	0.438000										HNSCC(33;0.089)			5	37					0	0	0.000602	0	0
NBPF18P	441908	broad.mit.edu	37	1	151991244	151991244	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:151991244C>G	ENST00000432386.1	+	0	2308					NR_103561.1																						AACAGCAGTTCAGAAACATAA	0.458000													9	58					0	0	0.004482	0	0
GTDC1	79712	broad.mit.edu	37	2	144714812	144714812	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:144714812C>A	ENST00000409214.1	-	9	1358	c.1080G>T	c.(1078-1080)atG>atT	p.M360I	GTDC1_ENST00000409298.1_Missense_Mutation_p.M242I|GTDC1_ENST00000344850.4_Missense_Mutation_p.M360I|GTDC1_ENST00000392869.1_Missense_Mutation_p.M360I|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000542155.1_Missense_Mutation_p.M360I|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000463875.2_Missense_Mutation_p.M231I|GTDC1_ENST00000392867.3_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	360					biosynthetic process		transferase activity, transferring glycosyl groups	p.M360I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAACATCAGCCATGCACAGTA	0.383000													6	55					5.18039e-06	6.39282e-06	0.003080	1	0
TRIM49	57093	broad.mit.edu	37	11	89537597	89537597	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:89537597A>T	ENST00000329758.1	-	3	369	c.41T>A	c.(40-42)aTc>aAc	p.I14N	TRIM49_ENST00000532501.2_Missense_Mutation_p.I14N	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	14						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGGGGCAGATGAGTTCCCC	0.473000													7	61					0	0	0.010729	0	0
C11orf63	79864	broad.mit.edu	37	11	122805659	122805659	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:122805659G>T	ENST00000227349.2	+	5	1807	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	C11orf63_ENST00000531316.1_Missense_Mutation_p.V504L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	504								p.V504L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAGAGACACGTGCTCCTGAG	0.378000													25	90					2.41591e-17	4.08786e-17	0.004656	1	0
UNC13C	440279	broad.mit.edu	37	15	54786899	54786899	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:54786899C>A	ENST00000545554.1	+	19	5027	c.5027C>A	c.(5026-5028)cCt>cAt	p.P1676H	UNC13C_ENST00000260323.11_Missense_Mutation_p.P1676H|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1674H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1676	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.P1676L(2)|p.P1676N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CGTGAACTTCCTGCCTTCAAG	0.353000													14	140					7.93312e-07	1.01622e-06	0.002450	1	0
A1BG	1	broad.mit.edu	37	19	58864328	58864328	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58864328G>T	ENST00000263100.3	-	3	367	c.306C>A	c.(304-306)acC>acA	p.T102T	A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	102	Ig-like V-type 1.					extracellular region		p.T102T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCTCAGCTGGGTCCATCCTG	0.637000													14	89					3.27435e-08	4.48024e-08	0.002450	1	0
IFNB1	3456	broad.mit.edu	37	9	21077762	21077762	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:21077762A>G	ENST00000380232.2	-	1	181	c.107T>C	c.(106-108)tTt>tCt	p.F36S		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	36					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	p.F36S(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CTGACACTGAAAATTGCTGCT	0.463000													6	62					0	0	0.001168	0	0
OR2H1	26716	broad.mit.edu	37	6	29429580	29429580	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29429580C>A	ENST00000377136.1	+	4	499	c.34C>A	c.(34-36)Ctt>Att	p.L12I	OR2H1_ENST00000442615.1_Missense_Mutation_p.L12I|OR2H1_ENST00000377132.1_Missense_Mutation_p.L12I|OR2H1_ENST00000377133.1_Missense_Mutation_p.L12I|OR2H1_ENST00000396792.2_Missense_Mutation_p.L12I|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12I(1)		large_intestine(5)|lung(12)	17						GGGCTTCCTCCTTCTGGGCTT	0.517000													14	221					2.32078e-09	3.32359e-09	0.003163	1	0
OR13D1	286365	broad.mit.edu	37	9	107457137	107457137	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:107457137C>A	ENST00000318763.5	+	1	478	c.435C>A	c.(433-435)gtC>gtA	p.V145V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V145V(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTGAGTGTGTCCTCCTGGCTG	0.488000													11	131					1.08611e-07	1.45185e-07	0.010729	1	0
OR52N4	390072	broad.mit.edu	37	11	5776426	5776426	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5776426G>C	ENST00000317254.3	+	1	504	c.456G>C	c.(454-456)ctG>ctC	p.L152L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L152L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCACCTTCCTGAGAGGGGTAT	0.488000													32	110					0	0	0.009535	0	0
ZEB1	6935	broad.mit.edu	37	10	31809433	31809433	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:31809433G>T	ENST00000446923.2	+	7	1513	c.1122G>T	c.(1120-1122)atG>atT	p.M374I	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.M370I|ZEB1_ENST00000320985.10_Missense_Mutation_p.M390I|ZEB1_ENST00000542815.3_Missense_Mutation_p.M323I|ZEB1_ENST00000361642.5_Missense_Mutation_p.M391I	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	390					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.M390I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCAGGGCATGGTGCAAGCTG	0.448000													7	93					0.000274275	0.00030527	0.004482	1	0
C7orf33	202865	broad.mit.edu	37	7	148311163	148311163	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:148311163G>T	ENST00000307003.2	+	2	595	c.234G>T	c.(232-234)cgG>cgT	p.R78R		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	78								p.R78R(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACATGAACCGGGGGATGGAAT	0.453000													15	78					1.5739e-10	2.32741e-10	0.004007	1	0
USH2A	7399	broad.mit.edu	37	1	215848726	215848726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:215848726G>T	ENST00000366943.2	-	63	12913	c.12527C>A	c.(12526-12528)tCt>tAt	p.S4176Y	USH2A_ENST00000307340.3_Missense_Mutation_p.S4176Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4176	Fibronectin type-III 27.				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.S4176Y(1)		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)		AACAGGCTCAGACCAGCTCAG	0.527000										HNSCC(13;0.011)			37	152					5.71845e-15	9.32822e-15	0.005524	1	0
C10orf68	79741	broad.mit.edu	37	10	33093962	33093962	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:33093962G>C	ENST00000375028.3	+	9	844	c.774G>C	c.(772-774)ttG>ttC	p.L258F	C10orf68_ENST00000375025.4_Missense_Mutation_p.L318F|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	282								p.L282F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAGAAAGCTTGAGAGGTGCTT	0.348000													17	225					0	0	0.002299	0	0
PLD6	201164	broad.mit.edu	37	17	17106395	17106395	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:17106395C>T	ENST00000321560.3	-	2	473	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	149					DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity	p.D149N(1)		endometrium(1)|lung(1)	2						GGGTCTTGATCGTGCCGGACC	0.557000													4	36					0	0	0.009096	0	0
PRSS27	83886	broad.mit.edu	37	16	2766520	2766520	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2766520C>T	ENST00000302641.3	-	2	108	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	18					proteolysis	extracellular region	serine-type endopeptidase activity	p.Q18Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCTTGGCCCTCTGAGACCCTG	0.662000													4	13					0	0	0.000602	0	0
CC2D1A	54862	broad.mit.edu	37	19	14034556	14034556	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14034556G>T	ENST00000318003.7	+	17	2113	c.1872G>T	c.(1870-1872)aaG>aaT	p.K624N	CC2D1A_ENST00000589606.1_Missense_Mutation_p.K624N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	624					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	p.K624N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACATTCTGAAGCAAGCCTTCG	0.622000													11	45					0.000673444	0.000735435	0.008291	1	0
HMBS	3145	broad.mit.edu	37	11	118959797	118959797	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:118959797A>G	ENST00000537841.1	+	4	406	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.M56V|HMBS_ENST00000543090.1_Missense_Mutation_p.M38V|HMBS_ENST00000542729.1_Missense_Mutation_p.M39V|HMBS_ENST00000442944.2_Missense_Mutation_p.M39V|HMBS_ENST00000392841.1_Missense_Mutation_p.M39V|HMBS_ENST00000278715.3_Missense_Mutation_p.M56V			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	56					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	p.M56V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTCAGTTGCTATGTCCACCAC	0.478000													34	109					0	0	0.003755	0	0
OR6C2	341416	broad.mit.edu	37	12	55846199	55846199	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:55846199G>C	ENST00000322678.1	+	1	202	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E68Q(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCCTTCTTAGAAGTCTCATT	0.388000													4	149					0	0	0.000602	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174244990	174244990	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:174244990A>G	ENST00000251507.4	+	9	1247	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.Y321C|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.Y5C	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	358					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	p.Y358C(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGAAAGAGCTATGATGGGAGA	0.353000													7	155					0	0	0.001984	0	0
AP3B2	8120	broad.mit.edu	37	15	83328316	83328316	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:83328316T>A	ENST00000261722.3	-	26	3452	c.3245A>T	c.(3244-3246)cAg>cTg	p.Q1082L	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q1101L|AP3B2_ENST00000535348.1_Missense_Mutation_p.Q1050L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1082					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.Q1081L(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGAAGTCACTGGGTCAGAGC	0.527000													11	52					0	0	0.001855	0	0
ADAM11	4185	broad.mit.edu	37	17	42855137	42855137	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:42855137T>C	ENST00000200557.6	+	23	2145	c.1976T>C	c.(1975-1977)aTg>aCg	p.M659T	ADAM11_ENST00000535346.1_Missense_Mutation_p.M459T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	659	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.M659T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGGCCTAACATGTTGTGCCTG	0.647000													9	45					0	0	0.004482	0	0
OR7A10	390892	broad.mit.edu	37	19	14952214	14952214	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14952214T>A	ENST00000248058.1	-	1	475	c.476A>T	c.(475-477)cAa>cTa	p.Q159L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q159L(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CATTAAGCTTTGTAACATGGA	0.453000													29	69					0	0	0.009535	0	0
CSMD3	114788	broad.mit.edu	37	8	113585804	113585804	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:113585804G>T	ENST00000297405.5	-	24	4212	c.3968C>A	c.(3967-3969)aCt>aAt	p.T1323N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1283N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1219N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1323N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1323	CUB 7.					integral to membrane|plasma membrane		p.T1323N(1)|p.T1283N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGATTTGAAGTACTACTAAG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			47	77					6.7651e-33	1.23045e-32	0.003610	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273425	145273425	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:145273425C>T	ENST00000369340.3	+	4	723	c.279C>T	c.(277-279)acC>acT	p.T93T	NOTCH2NL_ENST00000344859.3_Silent_p.T93T|RP11-458D21.5_ENST00000468030.1_Silent_p.T93T|NOTCH2NL_ENST00000362074.6_Silent_p.T93T			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	93	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.T93T(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGAGTGCACCTGTCAAGTCG	0.483000													32	545					0	0	0.004878	0	0
MED12L	116931	broad.mit.edu	37	3	151105804	151105804	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:151105804G>T	ENST00000474524.1	+	35	5228	c.5190G>T	c.(5188-5190)ctG>ctT	p.L1730L	MED12L_ENST00000273432.4_Silent_p.L1590L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1730					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.L1730L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CACTGCCCCTGCCTCCTGAGG	0.552000													10	19					9.70103e-10	1.39888e-09	0.008291	1	0
TTLL7	79739	broad.mit.edu	37	1	84385411	84385411	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:84385411C>G	ENST00000260505.8	-	13	1848	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	491					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	p.E491Q(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTATTCAACTCTCGCTGGAAT	0.348000													12	80					0	0	0.001855	0	0
TSC2	7249	broad.mit.edu	37	16	2110757	2110757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2110757G>T	ENST00000219476.3	+	11	1692	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	TSC2_ENST00000353929.4_Missense_Mutation_p.Q354H|TSC2_ENST00000439673.2_Missense_Mutation_p.Q317H|TSC2_ENST00000401874.2_Missense_Mutation_p.Q354H|TSC2_ENST00000350773.4_Missense_Mutation_p.Q354H|TSC2_ENST00000382538.6_Missense_Mutation_p.Q305H|TSC2_ENST00000568454.1_Missense_Mutation_p.Q365H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	354	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	p.Q354H(1)|p.V355L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGAGCTCCAGGTGGTGGCGT	0.602000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				21	80					2.4624e-09	3.52156e-09	0.008871	1	0
HGF	3082	broad.mit.edu	37	7	81388097	81388097	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:81388097C>G	ENST00000222390.5	-	3	504	c.278G>C	c.(277-279)aGa>aCa	p.R93T	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000457544.2_Missense_Mutation_p.R93T|HGF_ENST00000453411.1_Missense_Mutation_p.R93T|HGF_ENST00000444829.2_Missense_Mutation_p.R93T|HGF_ENST00000423064.2_Missense_Mutation_p.R93T|HGF_ENST00000354224.6_Missense_Mutation_p.R93T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	93	PAN.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.R93T(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCATTGTTTTCTTGCTTTATC	0.328000													4	100					0	0	0.000602	0	0
MT2A	4502	broad.mit.edu	37	16	56642595	56642595	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:56642595G>T	ENST00000245185.5	+	1	485	c.28_splice	c.e1+1	p.G10_splice	MT2A_ENST00000563985.1_3'UTR|MT2A_ENST00000561491.1_Splice_Site_p.G10_splice	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	10	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding	p.G10C(1)		breast(1)|endometrium(1)|lung(1)	3						CTGCGCCGCCGGTAAGAGGCT	0.587000													10	56					4.3838e-07	5.72086e-07	0.001855	1	0
TRIM27	5987	broad.mit.edu	37	6	28872184	28872184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:28872184G>C	ENST00000377199.3	-	8	1561	c.1205C>G	c.(1204-1206)cCc>cGc	p.P402R	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	402	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	p.P402R(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCATTCTGGGGGGCTGAGGT	0.542000			T	RET	papillary thyroid								16	75					0	0	0.003163	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669362	234669362	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234669362C>A	ENST00000360418.3	+	1	429	c.429C>A	c.(427-429)agC>agA	p.S143R	UGT1A1_ENST00000305208.5_Missense_Mutation_p.S143R|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron			P22309	UD11_HUMAN		143					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S143R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGCAGAAAGCAGCTTTGATG	0.493000													12	134					7.93312e-07	1.01622e-06	0.002450	1	0
STARD13	90627	broad.mit.edu	37	13	33703295	33703295	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:33703295C>G	ENST00000336934.5	-	5	1635	c.1519G>C	c.(1519-1521)Gtc>Ctc	p.V507L	STARD13_ENST00000399365.3_Missense_Mutation_p.V389L|STARD13_ENST00000255486.4_Missense_Mutation_p.V499L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.V507L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCAGGCAAGACATCTTTGGAC	0.448000													8	98					0	0	0.004482	0	0
TSEN2	80746	broad.mit.edu	37	3	12560662	12560662	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:12560662G>T	ENST00000444864.1	+	7	1374	c.987G>T	c.(985-987)gtG>gtT	p.V329V	TSEN2_ENST00000383797.5_Silent_p.V338V|TSEN2_ENST00000314571.7_Silent_p.V329V|TSEN2_ENST00000402228.3_Silent_p.V355V|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000454502.2_Silent_p.V296V|TSEN2_ENST00000415684.1_Silent_p.V329V|TSEN2_ENST00000284995.6_Silent_p.V355V	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	355					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	p.V355V(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGGGCTGGGTGCCCAAAGTGG	0.448000													34	113					1.26612e-14	2.04934e-14	0.003271	1	0
MYT1L	23040	broad.mit.edu	37	2	1926736	1926736	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:1926736C>A	ENST00000399161.2	-	10	1552	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	MYT1L_ENST00000428368.2_Missense_Mutation_p.A269S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	269					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A269S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCTTGGGCTAATAGTTTA	0.408000													29	233					2.48779e-11	3.76414e-11	0.005443	1	0
ATE1	11101	broad.mit.edu	37	10	123596233	123596233	+	Splice_Site	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:123596233C>T	ENST00000369043.3	-	10	1343	c.1257_splice	c.e10+1	p.K419_splice	ATE1_ENST00000369040.3_Splice_Site_p.K323_splice|ATE1_ENST00000540606.1_Splice_Site_p.K412_splice|ATE1_ENST00000535655.1_Splice_Site_p.K120_splice|ATE1_ENST00000543447.1_Splice_Site_p.K304_splice|ATE1_ENST00000224652.6_Splice_Site_p.K419_splice	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	419					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	p.K419K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCAACTTTACCTTATATTTCA	0.318000													13	73					0	0	0.001368	0	0
CC2D2B	387707	broad.mit.edu	37	10	97776052	97776052	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:97776052T>A	ENST00000344386.3	+	6	667	c.503T>A	c.(502-504)tTg>tAg	p.L168*	RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.L168*|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	168								p.L168*(2)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGGTCCTCTTGGGAACGTCA	0.398000													8	50					0	0	0.008291	0	0
PHRF1	57661	broad.mit.edu	37	11	607393	607393	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:607393C>T	ENST00000264555.5	+	14	2065	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A644V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A642V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A645V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646							RNA polymerase binding|zinc ion binding	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587000													10	103					0	0	0.006214	0	0
ZNF160	90338	broad.mit.edu	37	19	53572675	53572675	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53572675C>A	ENST00000601421.1	-	3	1880	c.1004G>T	c.(1003-1005)tGt>tTt	p.C335F	ZNF160_ENST00000429604.1_Missense_Mutation_p.C371F|ZNF160_ENST00000599056.1_Missense_Mutation_p.C371F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C371F			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	371					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C371F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTCATTACATTTGAACGG	0.388000													28	104					2.12542e-12	3.29219e-12	0.006320	1	0
CD97	976	broad.mit.edu	37	19	14513455	14513455	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14513455G>T	ENST00000242786.5	+	12	1310	c.1230G>T	c.(1228-1230)ttG>ttT	p.L410F	CD97_ENST00000357355.3_Missense_Mutation_p.L361F|CD97_ENST00000358600.3_Missense_Mutation_p.L317F	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	410					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L410F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGACGACATTGCTGGCCAATG	0.572000													42	66					3.76604e-16	6.29079e-16	0.010771	1	0
NRAP	4892	broad.mit.edu	37	10	115406740	115406740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:115406740G>T	ENST00000369358.4	-	10	1179	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	NRAP_ENST00000369360.3_Missense_Mutation_p.P312Q|NRAP_ENST00000359988.3_Missense_Mutation_p.P312Q|NRAP_ENST00000360478.3_Missense_Mutation_p.P312Q			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	312						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.P312Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GATCATAGCTGGGAAGCTGCC	0.537000													10	108					6.40141e-05	7.42564e-05	0.010729	1	0
AFAP1L1	134265	broad.mit.edu	37	5	148709278	148709278	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:148709278G>T	ENST00000296721.4	+	16	1958	c.1860G>T	c.(1858-1860)cgG>cgT	p.R620R	AFAP1L1_ENST00000515000.1_Silent_p.R620R	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	620							protein binding	p.R620R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGCCCGGAGGTACTTGG	0.512000													9	36					1.76689e-08	2.43035e-08	0.006214	1	0
PPP1R13B	23368	broad.mit.edu	37	14	104220583	104220583	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:104220583T>A	ENST00000202556.9	-	6	739		c.e6-2			NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	p.?(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACGCTGTTCCTAACAAAAGAA	0.428000													13	85					0	0	0.002450	0	0
LATS1	9113	broad.mit.edu	37	6	150004813	150004813	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:150004813T>C	ENST00000543571.1	-	4	1959	c.1412A>G	c.(1411-1413)aAt>aGt	p.N471S	LATS1_ENST00000253339.5_Missense_Mutation_p.N471S|LATS1_ENST00000392273.3_Missense_Mutation_p.N471S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	471					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.N471S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTTGCTCTATTTCCTAATGG	0.448000													44	159					0	0	0.003610	0	0
RAB15	376267	broad.mit.edu	37	14	65419249	65419249	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:65419249G>A	ENST00000533601.2	-	2	502	c.165C>T	c.(163-165)atC>atT	p.I55I	RAB15_ENST00000426039.3_Silent_p.I9I|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_Silent_p.I55I|RAB15_ENST00000436278.2_Silent_p.I9I|CHURC1-FNTB_ENST00000542227.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	55					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.I55I(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TCCGCACTTTGATGCCGTCTA	0.478000													19	117					0	0	0.010504	0	0
NLRP11	204801	broad.mit.edu	37	19	56320398	56320398	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56320398C>T	ENST00000443188.1	-	5	2288	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	NLRP11_ENST00000360133.3_Silent_p.V526V|NLRP11_ENST00000589824.2_Silent_p.V526V|NLRP11_ENST00000589093.1_Silent_p.V526V|NLRP11_ENST00000592953.1_Silent_p.V427V	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	526							ATP binding	p.V526V(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)		TCATGTATCCCACCGAGTACC	0.423000													39	178					0	0	0.007835	0	0
FAM171A1	221061	broad.mit.edu	37	10	15290733	15290733	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:15290733A>C	ENST00000378116.4	-	5	665	c.659T>G	c.(658-660)gTg>gGg	p.V220G		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	220						integral to membrane		p.V220G(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGACCATCCACCAGCACCGG	0.587000													7	65					0	0	0.010729	0	0
C11orf30	56946	broad.mit.edu	37	11	76248926	76248926	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:76248926G>C	ENST00000529032.1	+	15	2447	c.2447G>C	c.(2446-2448)aGa>aCa	p.R816T	C11orf30_ENST00000343878.3_Missense_Mutation_p.R816T|C11orf30_ENST00000525919.1_Missense_Mutation_p.R817T|C11orf30_ENST00000525038.1_Missense_Mutation_p.R831T|C11orf30_ENST00000524490.1_Missense_Mutation_p.R732T|C11orf30_ENST00000524767.1_Missense_Mutation_p.R831T|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000334736.3_Missense_Mutation_p.R816T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	816					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R816T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGAAAAGAGACATTCTCCT	0.398000													3	54					0	0	0.004672	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086610	46086610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:46086610C>G	ENST00000360770.3	-	1	234	c.194G>C	c.(193-195)tGt>tCt	p.C65S	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	65	23 X 5 AA approximate repeats.					keratin filament		p.C65S(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						CATGGGCACACACACAGAAGA	0.627000													22	41					0	0	0.002299	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216317	20216317	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20216317A>T	ENST00000331723.1	+	1	731	c.731A>T	c.(730-732)cAc>cTc	p.H244L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H244L(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGCTTCTCACCTGACAGTG	0.458000													4	171					0	0	0.009096	0	0
SPRR2B	6701	broad.mit.edu	37	1	153043118	153043118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:153043118C>A	ENST00000341611.2	-	2	260	c.198G>T	c.(196-198)aaG>aaT	p.K66N	SPRR2B_ENST00000368755.2_Missense_Mutation_p.K66N|SPRR2B_ENST00000368752.4_Missense_Mutation_p.K66N	NM_001017418.1	NP_001017418.1	P35325	SPR2B_HUMAN	small proline-rich protein 2B	66					keratinization	cornified envelope|cytoplasm		p.K66N(2)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGTGGATACTTTGGCTGGC	0.542000													68	193					3.54697e-40	6.50797e-40	0.003610	1	0
UNC5C	8633	broad.mit.edu	37	4	96140288	96140288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:96140288C>T	ENST00000453304.1	-	9	1825	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	UNC5C_ENST00000506749.1_Missense_Mutation_p.D512N	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	493					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.D493N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGAGAGGTCATCTTGGGGG	0.507000													27	165					0	0	0.004656	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608624	84608624	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:84608624G>T	ENST00000344803.2	+	4	3286	c.3239G>T	c.(3238-3240)cGg>cTg	p.R1080L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.R1080L(2)									GAAAGTGTCCGGACAACAGAG	0.493000													8	81					0.000157383	0.000178402	0.003080	1	0
CDCP2	200008	broad.mit.edu	37	1	54606877	54606877	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:54606877G>T	ENST00000371330.1	-	3	1504	c.657C>A	c.(655-657)ggC>ggA	p.G219G		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	219	CUB 2.					extracellular region		p.G219G(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCTGGTGCTGCCACAGTAGT	0.617000													7	31					5.18039e-06	6.39282e-06	0.003080	1	0
NCS1	23413	broad.mit.edu	37	9	132982036	132982036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:132982036G>T	ENST00000372398.3	+	4	347	c.261G>T	c.(259-261)caG>caT	p.Q87H	NCS1_ENST00000458469.1_Missense_Mutation_p.Q69H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	87	EF-hand 2.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	p.Q87H(1)		large_intestine(1)|lung(4)|stomach(1)	6						AGTTCATCCAGGCGCTGTCGG	0.637000													9	47					0.000274275	0.00030527	0.004482	1	0
MYBPH	4608	broad.mit.edu	37	1	203138136	203138136	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:203138136G>T	ENST00000255416.4	-	9	1372	c.1315C>A	c.(1315-1317)Cta>Ata	p.L439I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	439	Ig-like C2-type 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	p.L439I(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGGATCTCTAGGGTGCAGACG	0.562000													19	181					1.50039e-11	2.28339e-11	0.012319	1	0
ZFHX4	79776	broad.mit.edu	37	8	77775789	77775789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77775789G>T	ENST00000521891.2	+	11	10287	c.9839G>T	c.(9838-9840)gGa>gTa	p.G3280V	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3235V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3254V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3231V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3231						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G3264V(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)			CAGCTCCCTGGAACAGTGCAG	0.527000										HNSCC(33;0.089)			56	128					3.40343e-31	6.15802e-31	0.003610	1	0
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:55703186G>T	ENST00000301532.3	-	1	690	c.691C>A	c.(691-693)Cgc>Agc	p.R231S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231G(1)|p.R231C(1)|p.R231S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAAAGAGCGGATCTTTAAG	0.453000													8	12					0.000274275	0.00030527	0.004482	1	0
GTF3C1	2975	broad.mit.edu	37	16	27517247	27517247	+	Silent	SNP	G	G	A	rs35776875	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:27517247G>A	ENST00000356183.4	-	10	1758	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	GTF3C1_ENST00000561623.1_Silent_p.I581I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	581						transcription factor TFIIIC complex	DNA binding|protein binding	p.I581I(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGACCTCCTCGATCACAGCTA	0.542000													4	82					0	0	0.009096	0	0
OR4K13	390433	broad.mit.edu	37	14	20502628	20502628	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20502628C>G	ENST00000315693.2	-	1	291	c.290G>C	c.(289-291)tGt>tCt	p.C97S		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGGGAATAACATCCCCACCA	0.468000													32	71					0	0	0.009535	0	0
BRS3	680	broad.mit.edu	37	X	135572294	135572294	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:135572294A>G	ENST00000370648.3	+	2	665	c.437A>G	c.(436-438)tAc>tGc	p.Y146C		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	146					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	p.Y146C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTTTCTAGATACAAGGCAGTT	0.443000													14	34					0	0	0.003163	0	0
GCM1	8521	broad.mit.edu	37	6	52993253	52993253	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:52993253T>C	ENST00000259803.7	-	6	1273	c.1062A>G	c.(1060-1062)ccA>ccG	p.P354P		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	354						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P354P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGGCCATAATGGGGGACAGC	0.493000													7	131					0	0	0.003080	0	0
MARCH1	55016	broad.mit.edu	37	4	164534532	164534532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:164534532G>T	ENST00000503008.1	-	5	1152	c.176C>A	c.(175-177)aCa>aAa	p.T59K	MARCH1_ENST00000274056.7_Missense_Mutation_p.T59K|MARCH1_ENST00000514618.1_Missense_Mutation_p.T59K|MARCH1_ENST00000339875.5_Missense_Mutation_p.T42K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	59	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T59K(1)|p.T42K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCCCTGTTGTTGGGCTGCT	0.398000													4	73					1.23904e-05	1.49027e-05	0.000602	1	0
DRD1	1812	broad.mit.edu	37	5	174870079	174870079	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:174870079G>T	ENST00000393752.2	-	2	1016	c.24C>A	c.(22-24)gcC>gcA	p.A8A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	8					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	p.A8A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TCCCGTCCATGGCAGAGGTGT	0.557000													31	67					3.67414e-24	6.49036e-24	0.012213	1	0
ANO4	121601	broad.mit.edu	37	12	101520766	101520766	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:101520766A>G	ENST00000392979.3	+	26	3042	c.2681A>G	c.(2680-2682)tAt>tGt	p.Y894C	ANO4_ENST00000392977.3_Missense_Mutation_p.Y929C|ANO4_ENST00000550015.1_Missense_Mutation_p.Y449C|ANO4_ENST00000299222.9_Missense_Mutation_p.Y449C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	929						chloride channel complex	chloride channel activity	p.Y894C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGATGTATGAAGCAGAA	0.453000										HNSCC(74;0.22)			12	30					0	0	0.001368	0	0
ZC3H15	55854	broad.mit.edu	37	2	187366001	187366001	+	Splice_Site	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:187366001T>G	ENST00000337859.6	+	4	518	c.289_splice	c.e4-1	p.G97_splice	ZC3H15_ENST00000468120.1_3'UTR|ZC3H15_ENST00000544130.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	97						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	p.G97G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTGACATAGGTGCAGATCCCA	0.363000													21	53					0	0	0.010504	0	0
GALNT13	114805	broad.mit.edu	37	2	154996906	154996906	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:154996906C>T	ENST00000392825.3	+	4	766	c.199C>T	c.(199-201)Cct>Tct	p.P67S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P67S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	67						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P67S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGTTGATTCCTAAAGATGA	0.383000													13	38					0	0	0.001855	0	0
COL6A6	131873	broad.mit.edu	37	3	130284269	130284269	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:130284269C>A	ENST00000358511.6	+	3	1124	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	COL6A6_ENST00000453409.2_Missense_Mutation_p.L365M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	365	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen		p.L365M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CATCTTCACCCTGGGCATAGA	0.572000													20	147					1.2644e-06	1.61571e-06	0.010504	1	0
MUC16	94025	broad.mit.edu	37	19	9059267	9059267	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9059267T>A	ENST00000397910.4	-	3	28382	c.28179A>T	c.(28177-28179)ccA>ccT	p.P9393P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9395	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P9393P(1)|p.P5026P(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						AGTGAGTTCCTGGCCAGGAGG	0.537000													30	111					0	0	0.007291	0	0
MS4A4E	643680	broad.mit.edu	37	11	59997483	59997483	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:59997483G>T	ENST00000528394.1	-	1	45	c.46C>A	c.(46-48)Cct>Act	p.P16T	MS4A4E_ENST00000526086.1_Missense_Mutation_p.P16T|MS4A4E_ENST00000425663.1_Missense_Mutation_p.P16T|MS4A4E_ENST00000398986.2_Missense_Mutation_p.P16T|MS4A4E_ENST00000398984.2_Missense_Mutation_p.P16T|MS4A4E_ENST00000427611.2_5'UTR					membrane-spanning 4-domains, subfamily A, member 4E									p.P16T(1)		ovary(1)	1						GGCACATCAGGGCCAGCCCCT	0.458000													11	36					0.00010058	0.000115138	0.001368	1	0
XYLT1	64131	broad.mit.edu	37	16	17232324	17232324	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17232324C>A	ENST00000261381.6	-	8	1736	c.1652G>T	c.(1651-1653)cGc>cTc	p.R551L	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	551					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R551L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTGGTGATGCGCAGGTTGTT	0.597000													8	51					7.48243e-07	9.64402e-07	0.006214	1	0
TAF4B	6875	broad.mit.edu	37	18	23845200	23845200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:23845200G>T	ENST00000269142.5	+	2	1408	c.410G>T	c.(409-411)aGa>aTa	p.R137I	TAF4B_ENST00000578121.1_Missense_Mutation_p.R137I|TAF4B_ENST00000400466.2_Missense_Mutation_p.R137I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	137					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	p.R137I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTGTAACAAGAGCCGAGACC	0.383000													28	84					1.04121e-07	1.399e-07	0.005443	1	0
BRINP3	339479	broad.mit.edu	37	1	190067232	190067232	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:190067232C>A	ENST00000367462.3	-	8	2448	c.2217G>T	c.(2215-2217)gtG>gtT	p.V739V	FAM5C_ENST00000534846.1_Silent_p.V637V|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		739						extracellular region		p.V739V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGATCCTCACCACCTCACTAG	0.438000													45	120					4.64027e-19	7.99412e-19	0.003610	1	0
CEP57L1	285753	broad.mit.edu	37	6	109471397	109471397	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109471397G>T	ENST00000521277.1	+	5	894	c.369G>T	c.(367-369)atG>atT	p.M123I	CEP57L1_ENST00000517392.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000520883.1_Missense_Mutation_p.M63I|CEP57L1_ENST00000521522.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000368968.2_Missense_Mutation_p.M139I|CEP57L1_ENST00000359793.3_Missense_Mutation_p.M139I|CEP57L1_ENST00000523787.1_Missense_Mutation_p.M142I|CEP57L1_ENST00000407272.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000336977.4_Missense_Mutation_p.M63I|CEP57L1_ENST00000368970.2_Missense_Mutation_p.M139I|CEP57L1_ENST00000519095.1_Missense_Mutation_p.M139I			Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	139						microtubule|microtubule organizing center		p.M139I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAAAGAGAATGGTTCTCAACG	0.323000													6	138					8.12818e-05	9.33534e-05	0.001984	1	0
NAV3	89795	broad.mit.edu	37	12	78513135	78513135	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:78513135C>T	ENST00000397909.2	+	15	3332	c.3159C>T	c.(3157-3159)ccC>ccT	p.P1053P	NAV3_ENST00000228327.6_Silent_p.P1053P|NAV3_ENST00000266692.7_Silent_p.P1053P|NAV3_ENST00000536525.2_Silent_p.P1053P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1053	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.P1053P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGCCCCCCTCAGGCATTG	0.478000										HNSCC(70;0.22)			27	87					0	0	0.005443	0	0
EPHB2	2048	broad.mit.edu	37	1	23191473	23191473	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:23191473C>G	ENST00000400191.3	+	5	1089	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.V357V|EPHB2_ENST00000544305.1_Silent_p.V357V|EPHB2_ENST00000374630.3_Silent_p.V357V|EPHB2_ENST00000374627.1_Silent_p.V351V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	357	Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.V357V(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGGACCTCGTCTACAACATCA	0.652000													10	99					0	0	0.010729	0	0
NPY5R	4889	broad.mit.edu	37	4	164272464	164272464	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:164272464G>T	ENST00000515560.1	+	4	2561	c.1039G>T	c.(1039-1041)Gtt>Ttt	p.V347F	NPY5R_ENST00000338566.3_Missense_Mutation_p.V347F|NPY5R_ENST00000506953.1_Missense_Mutation_p.V347F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	347					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.V347F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAATTCAGATGTTCATGAATT	0.368000													24	49					1.22574e-08	1.71308e-08	0.002299	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574131	140574131	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140574131C>T	ENST00000239446.4	+	1	2190	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		669	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P669L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCT	0.692000													33	40					0	0	0.012213	0	0
TFAP4	7023	broad.mit.edu	37	16	4310163	4310163	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:4310163G>A	ENST00000204517.6	-	6	1078	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	250					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.V250V(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCATGGTGACGACATTGATGT	0.622000													15	118					0	0	0.003163	0	0
MTMR9	66036	broad.mit.edu	37	8	11163743	11163743	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:11163743G>T	ENST00000221086.3	+	5	1109	c.636G>T	c.(634-636)agG>agT	p.R212S	MTMR9_ENST00000526292.1_Missense_Mutation_p.R127S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	212	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding	p.R212S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CAAACGGGAGGAGGTGCAAGG	0.463000													6	43					0.00198382	0.002144	0.001984	1	0
MLLT3	4300	broad.mit.edu	37	9	20413979	20413979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:20413979C>A	ENST00000380338.4	-	5	1151	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	MLLT3_ENST00000429426.2_Missense_Mutation_p.D286Y|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D289Y(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TCTTCAGAATCTGAAATGGGC	0.418000			T	MLL	ALL								64	181					2.19297e-23	3.8608e-23	0.003610	1	0
KRTAP10-3	386682	broad.mit.edu	37	21	45978250	45978250	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:45978250G>T	ENST00000391620.1	-	1	393	c.349C>A	c.(349-351)Cct>Act	p.P117T	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	117	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.P117T(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						cagcagacaggcttgcagcag	0.647000													86	149					1.80454e-33	3.29361e-33	0.003610	1	0
ZNF536	9745	broad.mit.edu	37	19	30934628	30934628	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:30934628G>T	ENST00000355537.3	+	2	306	c.159G>T	c.(157-159)cgG>cgT	p.R53R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R53R(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)					TCCATCCCCGGCCCAACCCCG	0.667000													13	75					1.5842e-08	2.19934e-08	0.001855	1	0
WDR6	11180	broad.mit.edu	37	3	49049969	49049969	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:49049969A>C	ENST00000395474.3	+	2	1372	c.1092A>C	c.(1090-1092)ggA>ggC	p.G364G	WDR6_ENST00000448293.1_Silent_p.G283G|WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	334					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.G334G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGTACCGGGGATTGGGGGTCT	0.612000													4	79					0	0	0.000602	0	0
CFH	3075	broad.mit.edu	37	1	196654293	196654293	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196654293G>T	ENST00000367429.4	+	7	1130	c.890G>T	c.(889-891)gGt>gTt	p.G297V	CFH_ENST00000359637.2_Missense_Mutation_p.G233V|CFH_ENST00000439155.2_Missense_Mutation_p.G297V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	297	Sushi 5.				complement activation, alternative pathway	extracellular space		p.G297V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTAGAAATGGTTTTTATCCT	0.403000													62	140					2.19297e-23	3.8608e-23	0.003610	1	0
KCNJ10	3766	broad.mit.edu	37	1	160011198	160011198	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:160011198G>T	ENST00000368089.3	-	2	1351	c.1125C>A	c.(1123-1125)cgC>cgA	p.R375R	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.R375R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATTGCTGATGCGCACACTAA	0.527000													8	26					0.00307968	0.0033044	0.003080	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584558	138584558	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:138584558C>T	ENST00000251691.4	+	12	2104	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	646	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.D575D(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACCCCGGGACTGCCTAGGCC	0.587000													4	111					0	0	0.000602	0	0
MASP1	5648	broad.mit.edu	37	3	186953804	186953804	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:186953804A>G	ENST00000296280.6	-	11	2080	c.1855T>C	c.(1855-1857)Tat>Cat	p.Y619H	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.Y506H|MASP1_ENST00000495249.1_5'UTR	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	603	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.Y619H(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		AACTTGACATACTGCAGGACA	0.557000													12	87					0	0	0.010729	0	0
PLD5	200150	broad.mit.edu	37	1	242264009	242264009	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:242264009G>C	ENST00000442594.2	-	10	1548	c.1039C>G	c.(1039-1041)Cgc>Ggc	p.R347G	PLD5_ENST00000536534.1_Missense_Mutation_p.R439G|PLD5_ENST00000427495.1_Missense_Mutation_p.R377G	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	439						integral to membrane	catalytic activity	p.R347G(1)|p.R439G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TACTTGTTGCGATTTAACCTA	0.443000													6	84					0	0	0.001168	0	0
PSG2	5670	broad.mit.edu	37	19	43576039	43576039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43576039C>A	ENST00000406487.1	-	4	875	c.777G>T	c.(775-777)ttG>ttT	p.L259F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	259	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.L259F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGAAGCAAGACAAGTAGAGGT	0.448000													60	220					4.88506e-25	8.67347e-25	0.003610	1	0
COL6A3	1293	broad.mit.edu	37	2	238275710	238275710	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:238275710T>C	ENST00000295550.4	-	11	5572	c.5120A>G	c.(5119-5121)aAc>aGc	p.N1707S	COL6A3_ENST00000347401.3_Missense_Mutation_p.N1506S|COL6A3_ENST00000472056.1_Missense_Mutation_p.N1100S|COL6A3_ENST00000409809.1_Missense_Mutation_p.N1501S|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1501S|COL6A3_ENST00000346358.4_Missense_Mutation_p.N1507S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1707	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N1707S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACCACTTTGTTGATGGCGTC	0.542000													4	32					0	0	0.009096	0	0
KCNJ16	3773	broad.mit.edu	37	17	68129006	68129006	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:68129006G>C	ENST00000585558.1	+	4	1271	c.883G>C	c.(883-885)Gag>Cag	p.E295Q	KCNJ16_ENST00000392671.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000589377.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000283936.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.E299Q			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	260					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.E260Q(1)|p.E260*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AATTGACCATGAGAGCCCTCT	0.438000													11	227					0	0	0.008291	0	0
NR2E1	7101	broad.mit.edu	37	6	108502825	108502825	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:108502825A>T	ENST00000368986.4	+	8	1673	c.965A>T	c.(964-966)cAg>cTg	p.Q322L	NR2E1_ENST00000368983.3_Missense_Mutation_p.Q359L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	322	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.Q322L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GATGAGGCTCAGCTAACGCTC	0.473000													13	70					0	0	0.002450	0	0
SERPINA6	866	broad.mit.edu	37	14	94780726	94780726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:94780726G>T	ENST00000341584.3	-	2	406	c.260C>A	c.(259-261)gCc>gAc	p.A87D		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	87					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	p.A87D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GAGAAGCTGGGCCCGTGTGTG	0.552000													16	32					3.35478e-16	5.6128e-16	0.003163	1	0
LCMT2	9836	broad.mit.edu	37	15	43621794	43621794	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:43621794C>G	ENST00000305641.5	-	1	1009	c.894G>C	c.(892-894)gaG>gaC	p.E298D	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	298					tRNA processing		methyltransferase activity|protein binding	p.E298D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGATGCCACTCCTCAAATT	0.522000													8	48					0	0	0.004482	0	0
FGB	2244	broad.mit.edu	37	4	155490450	155490450	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:155490450G>T	ENST00000302068.4	+	6	1012	c.949G>T	c.(949-951)Ggc>Tgc	p.G317C	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Missense_Mutation_p.G98C	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	317	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.G317C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTACTGTGGCCTACCAGG	0.378000													17	57					1.00905e-13	1.60098e-13	0.008871	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065601	55065601	+	RNA	SNP	C	C	G	rs4100282		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:55065601C>G	ENST00000526016.1	-	0	107					NR_038174.2																						CACTGAGCAACAACTGCCATG	0.488000													3	58					0	0	0.009096	0	0
TMEM169	92691	broad.mit.edu	37	2	216960771	216960771	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216960771C>T	ENST00000454545.1	+	3	411	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	TMEM169_ENST00000406027.2_Silent_p.L29L|TMEM169_ENST00000295658.4_Silent_p.L29L|TMEM169_ENST00000437356.2_Silent_p.L29L	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	29						integral to membrane		p.L29L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCTGCCCTGGCGCTGGA	0.557000													20	54					0	0	0.007413	0	0
OR51I1	390063	broad.mit.edu	37	11	5462321	5462321	+	Missense_Mutation	SNP	G	G	T	rs141201376		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5462321G>T	ENST00000380211.1	-	1	423	c.424C>A	c.(424-426)Cgt>Agt	p.R142S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R142C(1)|p.R142S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAATATACGGTTGTGAGTG	0.478000													9	62					2.74318e-10	4.03363e-10	0.006214	1	0
ATP5C1	509	broad.mit.edu	37	10	7830195	7830195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7830195G>T	ENST00000356708.7	+	1	104	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.G9W	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	9					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.G9W(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GGGTGTCGCTGGGCTGTCGGC	0.682000													10	27					6.40141e-05	7.42564e-05	0.010729	1	0
KAT6B	23522	broad.mit.edu	37	10	76789167	76789167	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:76789167G>A	ENST00000287239.4	+	18	5074	c.4585G>A	c.(4585-4587)Gag>Aag	p.E1529K	KAT6B_ENST00000372714.1_Missense_Mutation_p.E1237K|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1346K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1237K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1237K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1529					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	p.E1529K(1)									AGAGTTCAAAGAGGGAAACCC	0.537000													17	76					0	0	0.006122	0	0
FRYL	285527	broad.mit.edu	37	4	48592824	48592824	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:48592824G>T	ENST00000537810.1	-	17	1963	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Silent_p.V453V|FRYL_ENST00000506685.1_Silent_p.V159V|FRYL_ENST00000358350.4_Silent_p.V453V|FRYL_ENST00000507711.1_Silent_p.V453V			O94915	FRYL_HUMAN	FRY-like	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.V453V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTACAAGGAAGACTCTGAGAC	0.368000													5	97					2.0095e-06	2.53678e-06	0.001984	1	0
RP1	6101	broad.mit.edu	37	8	55541512	55541512	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:55541512A>T	ENST00000220676.1	+	4	5218	c.5070A>T	c.(5068-5070)tcA>tcT	p.S1690S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1690	Poly-Ser.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S1690S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTAGTAGTTCATCTATGTTGC	0.408000													80	96					0	0	0.003610	0	0
RGS18	64407	broad.mit.edu	37	1	192150570	192150570	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:192150570G>T	ENST00000367460.3	+	4	613	c.432G>T	c.(430-432)caG>caT	p.Q144H		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	144	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.Q144H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTTATACAGACTGATGCCC	0.264000													4	80					0.000602214	0.000659719	0.000602	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147104	52147104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:52147104C>A	ENST00000360844.6	-	5	981	c.940G>T	c.(940-942)Gga>Tga	p.G314*	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	314	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.G314*(1)|p.G307*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		AATTCCCCTCCCTCTCTAGCT	0.587000													7	57					0.000157383	0.000178402	0.003080	1	0
UBR7	55148	broad.mit.edu	37	14	93685569	93685569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:93685569G>T	ENST00000013070.6	+	8	1058	c.822G>T	c.(820-822)aaG>aaT	p.K274N	UBR7_ENST00000416753.1_Missense_Mutation_p.K198N	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	274							ubiquitin-protein ligase activity|zinc ion binding	p.K274N(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CAGTGTTTAAGAATGAAAGCC	0.348000													6	41					8.12818e-05	9.33534e-05	0.001984	1	0
EPHA6	285220	broad.mit.edu	37	3	97311551	97311551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97311551G>T	ENST00000389672.5	+	12	2520	c.2482G>T	c.(2482-2484)Gga>Tga	p.G828*	EPHA6_ENST00000514100.1_Nonsense_Mutation_p.G220*|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.G220*|EPHA6_ENST00000442602.2_Nonsense_Mutation_p.G194*	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	733	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G220*(1)|p.G734*(1)|p.G828*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGCCAGGGGGAGGATCTTT	0.542000													12	41					1.5842e-08	2.19934e-08	0.001855	1	0
OR2T34	127068	broad.mit.edu	37	1	248738024	248738024	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248738024G>A	ENST00000328782.2	-	1	56	c.35C>T	c.(34-36)aCa>aTa	p.T12I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T12I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	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)			AGTGCTTGCTGTTTGATTCTG	0.458000													5	86					0	0	0.001984	0	0
TG	7038	broad.mit.edu	37	8	133898772	133898772	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:133898772G>A	ENST00000220616.4	+	9	1195	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	TG_ENST00000377869.1_Silent_p.Q385Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	385					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q385L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGCCAGCACGACCTGT	0.532000													15	211					0	0	0.004007	0	0
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:26881634C>A	ENST00000231021.4	-	12	2153	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	661					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D661Y(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						CCGCCTTCATCGTTGTAGGTC	0.438000													56	258					4.17328e-34	7.6437e-34	0.003610	1	0
RBM25	58517	broad.mit.edu	37	14	73554749	73554749	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:73554749C>T	ENST00000261973.7	+	6	708	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RBM25_ENST00000540173.1_Silent_p.L141L|RBM25_ENST00000527432.1_Silent_p.L141L|RBM25_ENST00000526754.1_Silent_p.L141L|RBM25_ENST00000525321.1_Silent_p.L141L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	141	RRM.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	p.L141L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATCTACCCTCCGTGCACTCA	0.383000													5	71					0	0	0.001168	0	0
XYLT1	64131	broad.mit.edu	37	16	17211722	17211722	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17211722C>T	ENST00000261381.6	-	11	2422	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.V780M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGACGGTCACGGTCACATTA	0.557000													8	65					0	0	0.003080	0	0
CEP128	145508	broad.mit.edu	37	14	81251424	81251424	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81251424C>A	ENST00000555265.1	-	15	2401	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	CEP128_ENST00000281129.3_Missense_Mutation_p.D676Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	676						centriole|spindle pole		p.D676Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTCTTCATCCCTGGATTTT	0.458000													25	196					9.86323e-18	1.67707e-17	0.003954	1	0
NRG3	10718	broad.mit.edu	37	10	83635474	83635474	+	Missense_Mutation	SNP	G	G	T	rs147736439	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:83635474G>T	ENST00000404547.1	+	1	378	c.378G>T	c.(376-378)gaG>gaT	p.E126D	NRG3_ENST00000372141.2_Missense_Mutation_p.E126D			P56975	NRG3_HUMAN	neuregulin 3	126	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.E126D(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)		AGGCCATGGAGaccaccacca	0.662000													9	15					2.17888e-05	2.60567e-05	0.006214	1	0
SPTA1	6708	broad.mit.edu	37	1	158637767	158637767	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158637767A>G	ENST00000368148.3	-	15	2099	c.1919T>C	c.(1918-1920)aTa>aCa	p.I640T	SPTA1_ENST00000368147.3_Missense_Mutation_p.I640T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	640					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I640T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTTTCTGTATGTTTTCCAG	0.463000													27	174					0	0	0.004656	0	0
BTBD11	121551	broad.mit.edu	37	12	108010866	108010866	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:108010866C>A	ENST00000280758.5	+	8	2530	c.2001_splice	c.e8-1	p.L668_splice	BTBD11_ENST00000490090.2_Splice_Site_p.L668_splice|BTBD11_ENST00000420571.2_Splice_Site_p.L668_splice|BTBD11_ENST00000357167.4_Splice_Site_p.L205_splice|RP11-128P10.1_ENST00000548473.1_RNA	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	668						integral to membrane	DNA binding	p.L668I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTCTGCAGCTCCTCCTGGA	0.587000													13	85					2.61681e-11	3.95362e-11	0.002450	1	0
PAMR1	25891	broad.mit.edu	37	11	35454105	35454105	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:35454105G>T	ENST00000378880.2	-	11	2407	c.1962C>A	c.(1960-1962)ccC>ccA	p.P654P	PAMR1_ENST00000532848.1_Silent_p.P614P|PAMR1_ENST00000278360.3_Silent_p.P671P|PAMR1_ENST00000378878.3_Silent_p.P543P	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	654	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P671P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGGGGCAGTGGGTTCCCAGC	0.587000													8	36					0.00307968	0.0033044	0.003080	1	0
MREG	55686	broad.mit.edu	37	2	216861126	216861126	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216861126C>G	ENST00000263268.6	-	2	453	c.158G>C	c.(157-159)tGg>tCg	p.W53S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	53						apical plasma membrane		p.W53S(1)		large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGCATACTCCATAAATTCTT	0.418000													7	110					0	0	0.001984	0	0
PXMP4	11264	broad.mit.edu	37	20	32298426	32298426	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:32298426C>T	ENST00000409299.3	-	3	402	c.310G>A	c.(310-312)Gca>Aca	p.A104T	PXMP4_ENST00000217398.3_Silent_p.T110T|PXMP4_ENST00000344022.3_Intron	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	104						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	p.A104T(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCCAGGAATGCGTGTGCTGGG	0.542000													6	65					0	0	0.001984	0	0
CORO2B	10391	broad.mit.edu	37	15	69011757	69011757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:69011757G>T	ENST00000543950.1	+	11	1516	c.1162G>T	c.(1162-1164)Gtg>Ttg	p.V388L	CORO2B_ENST00000261861.5_Missense_Mutation_p.V388L|CORO2B_ENST00000566799.1_Missense_Mutation_p.V393L|CORO2B_ENST00000540068.1_Missense_Mutation_p.V388L	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	393					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.V393L(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTAGATCCCGTGCTGATGTC	0.473000													5	103					3.59834e-05	4.22097e-05	0.001168	1	0
ARMC7	79637	broad.mit.edu	37	17	73106466	73106466	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73106466A>T	ENST00000245543.1	+	1	385	c.83A>T	c.(82-84)cAa>cTa	p.Q28L	ARMC7_ENST00000581078.1_Missense_Mutation_p.Q28L|ARMC7_ENST00000584947.1_Missense_Mutation_p.Q28L|ARMC7_ENST00000582136.1_Missense_Mutation_p.Q28L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	28							binding	p.Q28L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAGACCCAAAGCCAAGGT	0.677000													13	63					0	0	0.002450	0	0
PELI3	246330	broad.mit.edu	37	11	66235598	66235598	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:66235598G>A	ENST00000349459.6	+	2	283		c.e2-1		PELI3_ENST00000320740.7_Splice_Site|PELI3_ENST00000524466.1_Splice_Site|PELI3_ENST00000531856.1_Intron	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3							cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACTCTGCCCAGAATGGTGCTG	0.617000													3	41					0	0	0.004672	0	0
KIF16B	55614	broad.mit.edu	37	20	16316589	16316589	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:16316589C>T	ENST00000354981.2	-	24	3850	c.3693G>A	c.(3691-3693)ttG>ttA	p.L1231L	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Silent_p.L416L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1231	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.L1231L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTTTAACTTCAATGTTTTAT	0.323000													43	167					0	0	0.010771	0	0
APPBP2	10513	broad.mit.edu	37	17	58539393	58539393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:58539393C>A	ENST00000083182.3	-	7	1079	c.792G>T	c.(790-792)aaG>aaT	p.K264N	APPBP2_ENST00000592995.1_5'UTR	NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	264					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.K264N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGTTCTGCCTTCTTAAATT	0.284000													27	193					1.80694e-10	2.66448e-10	0.009535	1	0
EME2	197342	broad.mit.edu	37	16	1826213	1826213	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:1826213G>C	ENST00000307394.7	+	8	1309	c.1309G>C	c.(1309-1311)Gat>Cat	p.D437H	EME2_ENST00000568449.1_Missense_Mutation_p.D372H			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	p.D452H(1)|p.D437H(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						AGCCAACCCTGATCTCCTGCT	0.692000								Direct reversal of damage;Homologous recombination					21	74					0	0	0.004656	0	0
ELFN2	114794	broad.mit.edu	37	22	37770693	37770693	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:37770693C>A	ENST00000402918.1	-	3	1667	c.882G>T	c.(880-882)tcG>tcT	p.S294S	ELFN2_ENST00000349653.3_Silent_p.S294S|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	294	Fibronectin type-III.					cell surface|integral to membrane		p.S294S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTGGCCCTGCCGACGCATCCG	0.637000													44	102					1.17962e-10	1.74684e-10	0.008740	1	0
CALCRL	10203	broad.mit.edu	37	2	188225374	188225374	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:188225374G>T	ENST00000409998.1	-	11	1513	c.732C>A	c.(730-732)gcC>gcA	p.A244A	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.A244A|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.A244A			Q16602	CALRL_HUMAN	calcitonin receptor-like	244						integral to plasma membrane		p.A244A(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTGCAAACACGGCCACCACAA	0.398000													9	59					5.4927e-09	7.71788e-09	0.004482	1	0
ATR	545	broad.mit.edu	37	3	142188288	142188288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:142188288C>T	ENST00000350721.4	-	38	6564	c.6443G>A	c.(6442-6444)cGa>cAa	p.R2148Q	ATR_ENST00000383101.3_Missense_Mutation_p.R2084Q|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2148	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.R2148Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGACAAATTCGAGAGATCAA	0.343000								Other conserved DNA damage response genes					7	114					0	0	0.001984	0	0
CWH43	80157	broad.mit.edu	37	4	49032935	49032935	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:49032935T>C	ENST00000226432.4	+	11	1649	c.1466T>C	c.(1465-1467)tTc>tCc	p.F489S	CWH43_ENST00000513409.1_Missense_Mutation_p.F462S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	489					GPI anchor biosynthetic process	integral to membrane		p.F489S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAGTTGGGTTTCTATACAGAC	0.443000													32	187					0	0	0.010818	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374849	8374849	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:8374849C>T	ENST00000538603.1	-	7	1522	c.964G>A	c.(964-966)Gga>Aga	p.G322R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G322R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	322							nucleic acid binding|zinc ion binding	p.G322R(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCTCACCTCCCTGGATGGCG	0.637000													6	27					0	0	0.001168	0	0
DST	667	broad.mit.edu	37	6	56391360	56391360	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:56391360C>T	ENST00000370754.5	-	69	17834	c.17835G>A	c.(17833-17835)ctG>ctA	p.L5945L	DST_ENST00000244364.6_Silent_p.L3353L|DST_ENST00000361203.3_Silent_p.L5656L|DST_ENST00000370769.4_Silent_p.L5767L|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.L5441L|DST_ENST00000421834.2_Silent_p.L3679L|DST_ENST00000370788.2_Silent_p.L3570L			Q03001	DYST_HUMAN	dystonin	5765					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	p.L3353L(1)|p.L5767L(1)		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)			CTTCCTTTTTCAGTTCCTGAA	0.413000													30	127					0	0	0.009535	0	0
CACNG5	27091	broad.mit.edu	37	17	64875131	64875131	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:64875131C>T	ENST00000533854.1	+	3	475	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	CACNG5_ENST00000307139.3_Missense_Mutation_p.P80S|CACNG5_ENST00000169565.3_Missense_Mutation_p.P80S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.P80S(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATATGTGATGCCCATGAACAC	0.527000													26	84					0	0	0.010818	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513772	50513772	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:50513772C>A	ENST00000419119.1	-	2	2767	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	FIGNL1_ENST00000395556.2_Missense_Mutation_p.G405V|FIGNL1_ENST00000433017.1_Missense_Mutation_p.G405V|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G405V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	405					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	p.G405V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAATTCTACTCCTGCAATATC	0.413000													39	156					4.32679e-17	7.29753e-17	0.006999	1	0
OR14K1	343170	broad.mit.edu	37	1	247902274	247902274	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:247902274C>T	ENST00000283225.2	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.R120C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GTCCTATGACCGCTATGCTGC	0.562000													4	58					0	0	0.009096	0	0
PCNT	5116	broad.mit.edu	37	21	47773118	47773118	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:47773118G>A	ENST00000359568.5	+	10	1664	c.1557G>A	c.(1555-1557)ctG>ctA	p.L519L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	519	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.L519L(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGAGCAACTGAGGATTTATT	0.493000													6	60					0	0	0.001168	0	0
MAML1	9794	broad.mit.edu	37	5	179201511	179201511	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:179201511C>T	ENST00000292599.3	+	5	2947	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	895					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.S895L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATGAGCTCAGCAGCTGCC	0.647000													4	39					0	0	0.009096	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004868	153004868	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:153004868T>C	ENST00000307098.4	+	2	112	c.47T>C	c.(46-48)cTt>cCt	p.L16P	SPRR1B_ENST00000392661.3_Missense_Mutation_p.L16P	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	16	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.L16P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCCTCAGCTTCAGCAGCAG	0.572000													32	155					0	0	0.003271	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389067	39389067	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:39389067G>C	ENST00000411528.2	+	1	353	c.314G>C	c.(313-315)tGc>tCc	p.C105S		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	105	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding	p.C105S(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGAAGAACCTGCTACCACCCC	0.612000													14	159					0	0	0.002450	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817728	200817728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200817728G>T	ENST00000358823.2	+	11	2101	c.1831G>T	c.(1831-1833)Gga>Tga	p.G611*	CAMSAP2_ENST00000236925.4_Nonsense_Mutation_p.G622*|CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.G595*	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	622						cytoplasm|microtubule	protein binding	p.G611*(1)									AGTAGACACTGGAATTCACGT	0.373000													31	106					1.74807e-11	2.65259e-11	0.010818	1	0
GP2	2813	broad.mit.edu	37	16	20329602	20329602	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20329602C>A	ENST00000302555.5	-	7	1307	c.1158G>T	c.(1156-1158)ggG>ggT	p.G386G	GP2_ENST00000381360.5_Silent_p.G242G|GP2_ENST00000381362.4_Silent_p.G389G|GP2_ENST00000341642.5_Silent_p.G239G			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	389	ZP.					anchored to membrane|extracellular region|plasma membrane		p.G386G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGAGGTGTCCCCTTGTTCCA	0.502000													9	92					1.76689e-08	2.43035e-08	0.006214	1	0
SHANK2	22941	broad.mit.edu	37	11	70507709	70507709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:70507709C>A	ENST00000338508.4	-	22	1930	c.1931G>T	c.(1930-1932)gGg>gTg	p.G644V	SHANK2_ENST00000357171.3_Missense_Mutation_p.G55V|SHANK2_ENST00000409530.1_Missense_Mutation_p.G54V|SHANK2_ENST00000449116.2_Missense_Mutation_p.G55V|SHANK2_ENST00000449833.2_Missense_Mutation_p.G55V|SHANK2_ENST00000423696.2_Missense_Mutation_p.G264V|SHANK2_ENST00000409161.1_Missense_Mutation_p.G54V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	264					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.G55V(2)|p.G644V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTTGGCCCCTCGAAGCAC	0.507000													33	163					0.000109025	0.000124669	0.003755	1	0
GRPEL1	80273	broad.mit.edu	37	4	7062639	7062639	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:7062639G>T	ENST00000264954.4	-	4	768	c.604C>A	c.(604-606)Cat>Aat	p.H202N		NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	202					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	p.H202N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTGCGCCCATGCAGCTTGTAC	0.542000													46	139					4.64027e-19	7.99412e-19	0.003610	1	0
FLG	2312	broad.mit.edu	37	1	152280761	152280761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152280761C>A	ENST00000368799.1	-	3	6636	c.6601G>T	c.(6601-6603)Gat>Tat	p.D2201Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2201	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D2201Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCCATCTCCTGATTGT	0.552000									Ichthyosis				70	592					4.94307e-48	9.10153e-48	0.003610	1	0
PSG9	5678	broad.mit.edu	37	19	43763273	43763273	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43763273G>T	ENST00000418820.2	-	3	543	c.445C>A	c.(445-447)Ccc>Acc	p.P149T	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.P149T|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Missense_Mutation_p.P242T|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	149	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P242T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTGATGTAGGGGATGGGCAGC	0.478000													39	306					2.45108e-15	4.03616e-15	0.008740	1	0
CDC25B	994	broad.mit.edu	37	20	3781942	3781942	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:3781942C>T	ENST00000245960.5	+	8	1444	c.747C>T	c.(745-747)agC>agT	p.S249S	CDC25B_ENST00000344256.6_Silent_p.S185S|CDC25B_ENST00000439880.2_Silent_p.S235S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Silent_p.S208S|CDC25B_ENST00000379598.5_Silent_p.S185S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	249					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	p.S270S(1)|p.S249S(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGGAGCTCAGCCCCCTGGCCC	0.537000													9	153					0	0	0.006214	0	0
PRKCI	5584	broad.mit.edu	37	3	170002369	170002369	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:170002369C>A	ENST00000295797.4	+	12	1493	c.1188C>A	c.(1186-1188)gaC>gaA	p.D396E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	396	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	p.D387E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AACTCACTGACTACGGCATGT	0.343000													14	58					4.36969e-10	6.36256e-10	0.001855	1	0
MYO18B	84700	broad.mit.edu	37	22	26400768	26400768	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:26400768T>C	ENST00000335473.7	+	42	6667	c.6417T>C	c.(6415-6417)acT>acC	p.T2139T	MYO18B_ENST00000407587.2_Silent_p.T2140T|MYO18B_ENST00000536101.1_Silent_p.T2139T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2139						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.T2140T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAGATACTATGAGGACTC	0.542000													5	98					0	0	0.001168	0	0
CDH20	28316	broad.mit.edu	37	18	59195204	59195204	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:59195204T>C	ENST00000262717.4	+	7	1420	c.1022T>C	c.(1021-1023)cTg>cCg	p.L341P	CDH20_ENST00000538374.1_Missense_Mutation_p.L341P|CDH20_ENST00000536675.2_Missense_Mutation_p.L341P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	341	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L341P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTCAGCCCCTGAGTTTTGAA	0.443000													17	29					0	0	0.006122	0	0
CDH18	1016	broad.mit.edu	37	5	19473682	19473682	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:19473682A>T	ENST00000507958.1	-	15	3016	c.2026T>A	c.(2026-2028)Ttg>Atg	p.L676M	CDH18_ENST00000382275.1_Missense_Mutation_p.L676M|CDH18_ENST00000274170.4_Missense_Mutation_p.L676M|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	676					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L676M(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)					GGATTCCTCAAGGCTGTGATG	0.522000													17	178					0	0	0.004007	0	0
ADH1A	124	broad.mit.edu	37	4	100208120	100208120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:100208120G>T	ENST00000209668.2	-	3	259	c.146C>A	c.(145-147)aCa>aAa	p.T49K	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	49					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	p.T49K(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	GTGGTCATCTGTGCCACAGAT	0.473000													39	104					3.38236e-24	5.98505e-24	0.006999	1	0
PDHA1	5160	broad.mit.edu	37	X	19375768	19375768	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:19375768A>T	ENST00000379806.5	+	10	1090		c.e10-1		PDHA1_ENST00000545074.1_Splice_Site|PDHA1_ENST00000540249.1_Splice_Site|PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000379804.1_Splice_Site|PDHA1_ENST00000422285.2_Splice_Site	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1						glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	p.?(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GTTCTGTTTTAGGGGCCCATC	0.537000													74	79					0	0	0.003610	0	0
ZNF676	163223	broad.mit.edu	37	19	22364202	22364202	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:22364202G>A	ENST00000397121.2	-	3	634	c.317C>T	c.(316-318)aCa>aTa	p.T106I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T106I(1)		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)				CTGTGTAGTTGTTAAACTCTG	0.323000													60	78					0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124399744	124399744	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:124399744C>A	ENST00000368909.3	+	52	6850	c.6744C>A	c.(6742-6744)gtC>gtA	p.V2248V	DMBT1_ENST00000359586.6_Silent_p.V968V|DMBT1_ENST00000368955.3_Silent_p.V2238V|DMBT1_ENST00000344338.3_Silent_p.V2238V|DMBT1_ENST00000330163.4_Silent_p.V1620V|DMBT1_ENST00000338354.3_Silent_p.V2248V|DMBT1_ENST00000368956.2_Silent_p.V1620V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2248	ZP.				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.V2248V(2)|p.V2377V(1)		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)				TCGAGGAAGTCCAGTATGGCA	0.473000													33	128					3.90053e-15	6.3927e-15	0.012213	1	0
CA6	765	broad.mit.edu	37	1	9009428	9009428	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:9009428C>A	ENST00000377443.2	+	2	190	c.186C>A	c.(184-186)tcC>tcA	p.S62S	CA6_ENST00000377436.3_Silent_p.S62S|CA6_ENST00000319474.2_Silent_p.S62S|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	62					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.S62S(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		ACAACCCCTCCTTGAAGGGGC	0.602000													9	24					5.50884e-06	6.74235e-06	0.001368	1	0
P2RX2	22953	broad.mit.edu	37	12	133196907	133196907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:133196907C>A	ENST00000449132.2	+	5	502	c.502C>A	c.(502-504)Cca>Aca	p.P168T	P2RX2_ENST00000348800.5_Silent_p.I203I|P2RX2_ENST00000389110.3_Silent_p.I203I|P2RX2_ENST00000352418.4_Silent_p.I131I|P2RX2_ENST00000351222.4_Silent_p.I111I|P2RX2_ENST00000343948.4_Silent_p.I203I|P2RX2_ENST00000350048.5_Silent_p.I179I			Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	196					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.I203I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGAACAGCATCCACTACCCCA	0.557000													17	49					5.3912e-06	6.62947e-06	0.006122	1	0
ABCB5	340273	broad.mit.edu	37	7	20721275	20721275	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:20721275C>T	ENST00000404938.2	+	15	2507	c.1855C>T	c.(1855-1857)Ctt>Ttt	p.L619F	ABCB5_ENST00000258738.6_Missense_Mutation_p.L174F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	174	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.L619F(1)|p.L174F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATATTATTCACTTGTGATGTC	0.393000													7	43					0	0	0.001984	0	0
PIH1D3	139212	broad.mit.edu	37	X	106459949	106459949	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:106459949C>A	ENST00000535523.1	+	4	539	c.202C>A	c.(202-204)Cca>Aca	p.P68T	PIH1D3_ENST00000336387.4_Missense_Mutation_p.P68T|PIH1D3_ENST00000372453.3_Missense_Mutation_p.P68T	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3									p.P68T(1)									GAATATTGGACCACCCCAAAT	0.338000													5	30					4.096e-09	5.82592e-09	0.001168	1	0
LIMA1	51474	broad.mit.edu	37	12	50571335	50571335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:50571335G>C	ENST00000547825.1	-	5	2155	c.886C>G	c.(886-888)Caa>Gaa	p.Q296E	LIMA1_ENST00000552823.1_Missense_Mutation_p.Q438E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q599E|LIMA1_ENST00000341247.4_Missense_Mutation_p.Q598E|LIMA1_ENST00000552491.1_Missense_Mutation_p.Q295E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q437E|LIMA1_ENST00000552783.1_Missense_Mutation_p.Q439E	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	598					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	p.Q598E(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGGTGCTTTGAAATGAAGCT	0.498000													38	289					0	0	0.005524	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191737	54191737	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:54191737C>G	ENST00000408494.1	+	0	3					NR_031573.1																						AAGAAGATCTCAAGCTATGAG	0.418000													7	129					0	0	0.004482	0	0
ABCA10	10349	broad.mit.edu	37	17	67189378	67189378	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:67189378T>C	ENST00000269081.4	-	16	2562	c.1653A>G	c.(1651-1653)ctA>ctG	p.L551L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	551	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.L551L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGGTTCATCTAGCAGCAAAA	0.443000													4	83					0	0	0.009096	0	0
OPRL1	4987	broad.mit.edu	37	20	62729793	62729793	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:62729793C>T	ENST00000349451.3	+	6	1166	c.754C>T	c.(754-756)Cga>Tga	p.R252*	OPRL1_ENST00000336866.2_Nonsense_Mutation_p.R252*|OPRL1_ENST00000355631.4_Nonsense_Mutation_p.R252*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	252					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	p.R252*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTCGGGCTCCCGAGAGAAGGA	0.637000													11	137					0	0	0.001855	0	0
KIF26B	55083	broad.mit.edu	37	1	245848964	245848964	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:245848964G>A	ENST00000366518.4	+	9	1640	c.1536G>A	c.(1534-1536)gtG>gtA	p.V512V	KIF26B_ENST00000407071.2_Silent_p.V893V			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	893	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V893V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCCTATCGTGCCAGCCCTGC	0.642000													5	21					0	0	0.001168	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58187554	58187554	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58187554C>T	ENST00000318203.5	+	3	738	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	14					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S14F(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		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;0.026)		TGTGAACCATCCGAGAATAAT	0.398000													8	42					0	0	0.004482	0	0
KCNH5	27133	broad.mit.edu	37	14	63269127	63269127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:63269127C>A	ENST00000322893.7	-	9	2010	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V	KCNH5_ENST00000394968.1_Missense_Mutation_p.G523V|KCNH5_ENST00000420622.2_Missense_Mutation_p.G581V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	581					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.G581V(1)|p.G523V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CACACTTTCTCCAGCATGGTA	0.517000													16	47					2.23348e-06	2.80935e-06	0.004007	1	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518273	84518273	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:84518273C>G	ENST00000331369.5	+	0	467																											GCTGAAGATCCCTAAGAGCAC	0.453000													40	81					0	0	0.006230	0	0
RECQL5	9400	broad.mit.edu	37	17	73627074	73627074	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73627074A>T	ENST00000317905.5	-	11	1724	c.1565T>A	c.(1564-1566)aTa>aAa	p.I522K	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.I495K	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	522					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.I495K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAATTCTTCTATCTTGGGGTC	0.592000								Other identified genes with known or suspected DNA repair function					12	40					0	0	0.010729	0	0
ABCA12	26154	broad.mit.edu	37	2	215890417	215890417	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:215890417G>T	ENST00000272895.7	-	11	1486	c.1267C>A	c.(1267-1269)Cct>Act	p.P423T	ABCA12_ENST00000389661.4_Missense_Mutation_p.P105T|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	423					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P423T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGACTTCAGGAACTGGAGGA	0.299000													13	84					3.45872e-05	4.10796e-05	0.004007	1	0
TMEM180	79847	broad.mit.edu	37	10	104233400	104233400	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104233400G>T	ENST00000238936.4	+	8	1236	c.999G>T	c.(997-999)gcG>gcT	p.A333A	TMEM180_ENST00000366277.2_Silent_p.A62A	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	333						integral to membrane		p.A333A(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGTCTACGCGGTGGTGCGGG	0.637000													10	87					7.48243e-07	9.64402e-07	0.006214	1	0
OR10G9	219870	broad.mit.edu	37	11	123893753	123893753	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:123893753C>A	ENST00000375024.1	+	1	34	c.34C>A	c.(34-36)Ctc>Atc	p.L12I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L12I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCGTTCATCCTCACGGGCCT	0.552000													24	145					7.92952e-12	1.21384e-11	0.003954	1	0
PEX5	5830	broad.mit.edu	37	12	7361763	7361763	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:7361763C>T	ENST00000266563.5	+	13	1629	c.1446C>T	c.(1444-1446)ccC>ccT	p.P482P	PEX5_ENST00000420616.2_Silent_p.P519P|PEX5_ENST00000412720.2_Silent_p.P540P|PEX5_ENST00000434354.2_Silent_p.P534P|PEX5_ENST00000455147.2_Silent_p.P519P|PEX5_ENST00000266564.3_Silent_p.P511P	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	519					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	p.P511P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGTTCGTCCCAATGTGAGCC	0.532000													24	36					0	0	0.003330	0	0
C2orf16	84226	broad.mit.edu	37	2	27805001	27805001	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27805001C>G	ENST00000408964.2	+	1	5613	c.5562C>G	c.(5560-5562)ctC>ctG	p.L1854L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1854	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.							p.L1854L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACCTCAGTCCCTTGG	0.547000													17	109					0	0	0.008871	0	0
FAM83D	81610	broad.mit.edu	37	20	37580398	37580398	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:37580398G>C	ENST00000217429.4	+	4	1124	c.1083G>C	c.(1081-1083)cgG>cgC	p.R361R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	331					cell division|mitosis	cytoplasm|spindle pole		p.R361R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACCTGCTGCGGATGCGGCTGG	0.597000													22	66					0	0	0.002299	0	0
EPHA7	2045	broad.mit.edu	37	6	93964513	93964513	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:93964513C>A	ENST00000369303.4	-	14	2568	c.2382_splice	c.e14-1	p.G795_splice		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	795	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G795V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATTTTTCCACCCTGTTATAA	0.353000													4	28					0.00909568	0.00962096	0.009096	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53691404	53691404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:53691404G>T	ENST00000262135.4	-	13	1635	c.1542C>A	c.(1540-1542)aaC>aaA	p.N514K	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.N514K|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.N514K|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.N514K	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	514					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.N514K(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAATTAGCATGTTTCTTGTCT	0.318000													3	50					0.004672	0.00498219	0.004672	1	0
TINF2	26277	broad.mit.edu	37	14	24709282	24709282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:24709282C>A	ENST00000267415.7	-	8	1550	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_Missense_Mutation_p.Q368H	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	403					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	p.Q403H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TTCCTTCCCCCTGGCCATTTT	0.502000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				9	400					2.17888e-05	2.60567e-05	0.006214	1	0
KIAA0895	23366	broad.mit.edu	37	7	36429683	36429683	+	Translation_Start_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:36429683T>A	ENST00000297063.6	-	1	51	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	ANLN_ENST00000396068.2_Intron|ANLN_ENST00000265748.2_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	1								p.M1L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCAGCCATGACCCACCGC	0.642000													6	48					0	0	0.001984	0	0
SOBP	55084	broad.mit.edu	37	6	107956574	107956574	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:107956574G>C	ENST00000317357.5	+	6	3185	c.2526G>C	c.(2524-2526)ccG>ccC	p.P842P	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	842							metal ion binding	p.P842P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGGCACCGTGCATCATCT	0.612000													11	87					0	0	0.010729	0	0
CDKL4	344387	broad.mit.edu	37	2	39414835	39414835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:39414835C>A	ENST00000378803.1	-	6	667	c.668G>T	c.(667-669)aGa>aTa	p.R223I	CDKL4_ENST00000395035.3_Missense_Mutation_p.R223I	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	223	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.R223I(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGATTGATGTCTTGGGATTAA	0.338000													18	42					5.3912e-06	6.62947e-06	0.006122	1	0
RFTN2	130132	broad.mit.edu	37	2	198436887	198436887	+	Missense_Mutation	SNP	G	G	T	rs138418206		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:198436887G>T	ENST00000295049.3	-	9	1887	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	451						plasma membrane		p.R451S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGAGAAAGGCGGCACTCCTCA	0.532000													13	101					0.00010058	0.000115138	0.001368	1	0
AGK	55750	broad.mit.edu	37	7	141352626	141352626	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:141352626G>A	ENST00000355413.4	+	16	1431	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	RP5-894A10.2_ENST00000467537.1_RNA|AGK_ENST00000473247.1_Missense_Mutation_p.E363K	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	391					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E391K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGAGGAGTATGAAGCGATGCC	0.527000													10	101					0	0	0.010729	0	0
LYST	1130	broad.mit.edu	37	1	235976294	235976294	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:235976294G>A	ENST00000389794.3	-	4	434	c.260C>T	c.(259-261)cCt>cTt	p.P87L	LYST_ENST00000389793.2_Missense_Mutation_p.P87L|LYST_ENST00000536965.1_Missense_Mutation_p.P87L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	87					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.P87L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTGGACAGGTATCTTCCA	0.373000													6	26					0	0	0.001168	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318835	21318835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:21318835G>A	ENST00000583088.1	+	3	1076	c.181G>A	c.(181-183)Gac>Aac	p.D61N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D61N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.D61N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CGCCAACATGGACGAGAAGTC	0.597000										Prostate(3;0.18)			9	42					0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141215131	141215131	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141215131G>T	ENST00000389484.3	-	61	10686	c.9715C>A	c.(9715-9717)Cgt>Agt	p.R3239S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3239					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R3239S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATGGGCACGGCTGAGTGAC	0.438000										TSP Lung(27;0.18)			9	122					3.09899e-07	4.07987e-07	0.004482	1	0
CDH26	60437	broad.mit.edu	37	20	58559697	58559697	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:58559697A>T	ENST00000348616.4	+	6	845	c.545A>T	c.(544-546)cAa>cTa	p.Q182L	CDH26_ENST00000244047.5_Missense_Mutation_p.Q182L	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	182	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q182L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTCTAGGGCAACCTATTTTT	0.338000													10	118					0	0	0.008291	0	0
MYT1L	23040	broad.mit.edu	37	2	1926362	1926362	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:1926362C>T	ENST00000399161.2	-	10	1926	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	MYT1L_ENST00000428368.2_Silent_p.S393S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	393					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S393S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAAACACTCTCGACCGGGGGC	0.587000													11	51					0	0	0.010729	0	0
RNF141	50862	broad.mit.edu	37	11	10540598	10540598	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:10540598C>T	ENST00000265981.2	-	5	667	c.525G>A	c.(523-525)caG>caA	p.Q175Q	RNF141_ENST00000528665.1_Silent_p.Q175Q	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	175							zinc ion binding	p.Q175Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CAATACACTTCTGACAAAAGC	0.463000													3	60					0	0	0.004672	0	0
GABRA3	2556	broad.mit.edu	37	X	151336822	151336822	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:151336822T>G	ENST00000370314.4	-	10	1595	c.1357A>C	c.(1357-1359)Agc>Cgc	p.S453R	GABRA3_ENST00000535043.1_Missense_Mutation_p.S453R|RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.S453R	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	453					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.S453R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAACCTTGCTGACACTGTTG	0.512000													11	76					0	0	0.008291	0	0
KRT4	3851	broad.mit.edu	37	12	53202170	53202170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53202170C>A	ENST00000293774.4	-	6	1525	c.1255G>T	c.(1255-1257)Ggt>Tgt	p.G419C	KRT4_ENST00000551956.1_Missense_Mutation_p.G345C|KRT4_ENST00000458244.2_Missense_Mutation_p.G325C			B4DRS2	B4DRS2_HUMAN	keratin 4	345						keratin filament	structural molecule activity	p.G419C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGTTGTCACCATGTTGGTCA	0.507000													22	96					1.50039e-11	2.28339e-11	0.012319	1	0
ZNF597	146434	broad.mit.edu	37	16	3486959	3486959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:3486959C>G	ENST00000301744.4	-	4	975	c.740G>C	c.(739-741)aGa>aCa	p.R247T	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R247T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CATAAAACCTCTACCACATAT	0.448000													4	113					0	0	0.009096	0	0
TARBP1	6894	broad.mit.edu	37	1	234529421	234529421	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:234529421G>A	ENST00000040877.1	-	27	4405	c.4406C>T	c.(4405-4407)tCg>tTg	p.S1469L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1469					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCGATGAGCGAGGCCACAAC	0.458000													5	140					0	0	0.001168	0	0
LATS2	26524	broad.mit.edu	37	13	21563266	21563266	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:21563266C>A	ENST00000382592.4	-	4	1058	c.653G>T	c.(652-654)gGa>gTa	p.G218V	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.G218V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	218					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G218V(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGGCCGACTCCGGGGAAAAG	0.721000													4	16					0.00909568	0.00962096	0.009096	1	0
CTAGE6	340307	broad.mit.edu	37	7	143453488	143453488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:143453488T>A	ENST00000470691.2	-	1	1301	c.1264A>T	c.(1264-1266)Aag>Tag	p.K422*		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CGGCTGAGCTTTTCTTCCACT	0.378000													9	337					0	0	0.004482	0	0
ALG10	84920	broad.mit.edu	37	12	34179422	34179422	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:34179422G>A	ENST00000266483.2	+	3	1313	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	332					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.V332I(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTTACCTTAGTCTCTGTGTT	0.328000													37	191					0	0	0.006230	0	0
PTPRS	5802	broad.mit.edu	37	19	5206810	5206810	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:5206810C>T	ENST00000372412.4	-	38	6058	c.5825G>A	c.(5824-5826)gGa>gAa	p.G1942E	PTPRS_ENST00000587303.1_Missense_Mutation_p.G1941E|PTPRS_ENST00000588012.1_Missense_Mutation_p.G1903E|PTPRS_ENST00000592099.1_Missense_Mutation_p.G1494E|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.G1921E|PTPRS_ENST00000353284.2_Missense_Mutation_p.G1494E|PTPRS_ENST00000348075.2_Missense_Mutation_p.G1903E|PTPRS_ENST00000357368.4_Missense_Mutation_p.G1941E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1941					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1941E(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTCAAAGCTTCCGAGGTACTC	0.632000													8	60					0	0	0.003080	0	0
FMO3	2328	broad.mit.edu	37	1	171076937	171076937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171076937G>T	ENST00000367755.4	+	4	554	c.443G>T	c.(442-444)gGa>gTa	p.G148V	FMO3_ENST00000542847.1_Missense_Mutation_p.G128V|FMO3_ENST00000392085.2_Missense_Mutation_p.G148V|FMO3_ENST00000538429.1_Missense_Mutation_p.G85V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	148					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	p.G148V(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTGTTCCGGACATCATGTG	0.403000													32	92					4.4194e-11	6.62911e-11	0.002836	1	0
EIF4B	1975	broad.mit.edu	37	12	53431372	53431372	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53431372C>G	ENST00000262056.9	+	11	1812	c.1486C>G	c.(1486-1488)Cag>Gag	p.Q496E	EIF4B_ENST00000420463.3_Missense_Mutation_p.Q501E|EIF4B_ENST00000416762.3_Missense_Mutation_p.Q457E|RP11-983P16.4_ENST00000552905.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	496					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.Q496E(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TGCTCGATCTCAGAGCTCAGA	0.478000													3	36					0	0	0.000602	0	0
CRIM1	51232	broad.mit.edu	37	2	36744595	36744595	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:36744595G>A	ENST00000280527.2	+	12	2483	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	706	VWFC 4.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G706R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCCACAGCGGACGGGTGCT	0.582000													6	104					0	0	0.001984	0	0
ZNF521	25925	broad.mit.edu	37	18	22806338	22806338	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:22806338C>A	ENST00000361524.3	-	4	1692	c.1544G>T	c.(1543-1545)tGt>tTt	p.C515F	ZNF521_ENST00000584787.1_Missense_Mutation_p.C295F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C515F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	515					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.C515F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAATGGGGACAAAAGAATGC	0.463000			T	PAX5	ALL								36	76					6.90743e-12	1.06049e-11	0.003755	1	0
FCRL5	83416	broad.mit.edu	37	1	157497603	157497603	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:157497603C>A	ENST00000361835.3	-	9	1921	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	FCRL5_ENST00000356953.4_Missense_Mutation_p.E588D|FCRL5_ENST00000368191.3_Missense_Mutation_p.E503D|FCRL5_ENST00000368190.3_Missense_Mutation_p.E588D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	588	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.E588D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCTCGGGGCCTCACAGTGAA	0.592000													5	107					0.000602214	0.000659719	0.000602	1	0
HIRA	7290	broad.mit.edu	37	22	19376025	19376025	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:19376025G>C	ENST00000263208.5	-	10	1245	c.989C>G	c.(988-990)tCc>tGc	p.S330C	HIRA_ENST00000541063.1_Missense_Mutation_p.S286C|HIRA_ENST00000546308.1_Missense_Mutation_p.S286C|HIRA_ENST00000340170.4_Missense_Mutation_p.S330C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	330					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S330C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ATCCATGATGGATTTGTCAAA	0.443000													3	38					0	0	0.009096	0	0
CCER1	196477	broad.mit.edu	37	12	91348087	91348087	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:91348087G>A	ENST00000358859.2	-	1	866	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.R145C(1)									CGGCCTCTGCGGCCCCAGCGC	0.697000													3	25					0	0	0.004672	0	0
CDH10	1008	broad.mit.edu	37	5	24498610	24498610	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24498610G>T	ENST00000264463.4	-	9	1919	c.1412C>A	c.(1411-1413)aCa>aAa	p.T471K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	471	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T471K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCCACGCGTGTTGTCTCTTT	0.383000										HNSCC(23;0.051)			19	94					3.73194e-20	6.49357e-20	0.010504	1	0
TTC21B	79809	broad.mit.edu	37	2	166767876	166767876	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:166767876C>T	ENST00000243344.7	-	18	2559	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	808						cilium axoneme|cytoplasm|cytoskeleton	binding	p.A808T(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACTTTTTCTGCTTTGTCATAC	0.353000													7	102					0	0	0.003080	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978507	6978507	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:6978507C>G	ENST00000254868.4	-	9	1145	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	CLEC10A_ENST00000416562.2_Missense_Mutation_p.G246R|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Missense_Mutation_p.G249R	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	273	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	p.G273R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCCCGTGCCCCTGCCAGTCG	0.602000													12	28					0	0	0.001368	0	0
FOXJ3	22887	broad.mit.edu	37	1	42647591	42647591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:42647591C>T	ENST00000372572.1	-	14	2061	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	FOXJ3_ENST00000545068.1_Missense_Mutation_p.A584T|FOXJ3_ENST00000372571.1_Missense_Mutation_p.A98T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A584T|FOXJ3_ENST00000361776.1_Missense_Mutation_p.A550T|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A584T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	584					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.A584T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCTTACCTGCCATCGTTGTT	0.507000													6	24					0	0	0.001168	0	0
MIR3654	100500804	broad.mit.edu	37	11	62348608	62348608	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62348608G>A	ENST00000496634.2	-	4	705	c.660C>T	c.(658-660)ttC>ttT	p.F220F	TUT1_ENST00000308436.7_Silent_p.F258F|TUT1_ENST00000476907.1_Silent_p.F220F														p.F220F(1)|p.F258F(1)		NS(1)	1						CCAGATCCAAGAAGAGGTCAA	0.542000													5	120					0	0	0.000602	0	0
SEPT4	5414	broad.mit.edu	37	17	56602523	56602523	+	Missense_Mutation	SNP	A	A	G	rs112657072		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56602523A>G	ENST00000426861.1	-	5	607	c.521T>C	c.(520-522)gTg>gCg	p.V174A	SEPT4_ENST00000580844.1_Missense_Mutation_p.V94A|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.V174A|SEPT4_ENST00000317268.3_Missense_Mutation_p.V193A|SEPT4_ENST00000580809.1_Missense_Mutation_p.V75A|SEPT4_ENST00000583114.1_Missense_Mutation_p.V46A|SEPT4_ENST00000579371.1_Missense_Mutation_p.V94A|SEPT4_ENST00000457347.2_Missense_Mutation_p.V208A|SEPT4_ENST00000412945.3_Missense_Mutation_p.V185A|SEPT4_ENST00000393086.1_Missense_Mutation_p.V174A	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	193					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.V174A(1)|p.V193A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCTATGTCCACTGCATGCTT	0.537000													25	180					0	0	0.003330	0	0
ITIH5	80760	broad.mit.edu	37	10	7684001	7684001	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7684001C>A	ENST00000256861.6	-	3	266	c.188G>T	c.(187-189)cGt>cTt	p.R63L	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.R63L|ITIH5_ENST00000397146.2_Missense_Mutation_p.R63L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	63	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R63L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAAGGCATAACGGGAAATGAT	0.438000													16	63					3.99206e-14	6.41186e-14	0.007413	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102472507	102472507	+	Splice_Site	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:102472507G>C	ENST00000360184.4	+	27	5880	c.5716_splice	c.e27+1	p.G1906_splice		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1906	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.G1906R(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCCCATTTGGTAAGTTCTT	0.448000													26	66					0	0	0.004656	0	0
OR2T33	391195	broad.mit.edu	37	1	248436683	248436683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248436683G>T	ENST00000318021.2	-	1	455	c.434C>A	c.(433-435)tCg>tAg	p.S145*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S145*(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GAGCCAACACGACATGGTCAT	0.577000													27	183					3.65163e-15	5.99418e-15	0.006320	1	0
ZNF284	342909	broad.mit.edu	37	19	44585189	44585189	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44585189G>A	ENST00000421176.3	+	3	253	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V13M(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTTCAAGGATGTGGCTGTGGT	0.522000													22	158					0	0	0.010504	0	0
CXorf66	347487	broad.mit.edu	37	X	139038425	139038425	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:139038425G>A	ENST00000370540.1	-	3	739	c.716C>T	c.(715-717)cCt>cTt	p.P239L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	239						integral to membrane		p.P239L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATGTTTGGGAGGCTTAGCCAA	0.433000													12	110					0	0	0.001368	0	0
EFNB2	1948	broad.mit.edu	37	13	107164970	107164970	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:107164970C>A	ENST00000245323.4	-	2	462	c.313G>T	c.(313-315)Gac>Tac	p.D105Y		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	105					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	p.D105Y(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ATATCTTGGTCTGGTTTGGCA	0.353000													13	103					4.3838e-07	5.72086e-07	0.001855	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574115	140574115	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140574115G>A	ENST00000239446.4	+	1	2174	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		664	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.D664N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.701000													28	31					0	0	0.005443	0	0
MMP25	64386	broad.mit.edu	37	16	3100498	3100498	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:3100498C>T	ENST00000336577.4	+	4	849	c.612C>T	c.(610-612)tcC>tcT	p.S204S	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	204					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S128S(1)|p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						ACCCCATCTCCGGGGACACTC	0.562000													4	64					0	0	0.000602	0	0
PHLPP1	23239	broad.mit.edu	37	18	60506065	60506065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:60506065G>T	ENST00000400316.4	+	3	2067	c.286G>T	c.(286-288)Gga>Tga	p.G96*	PHLPP1_ENST00000588953.1_3'UTR|PHLPP1_ENST00000262719.5_Nonsense_Mutation_p.G608*	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	608					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	p.G608*(2)|p.G95*(1)		endometrium(2)|kidney(2)|lung(13)	17						TAGCTCCTCTGGACCCCAAAG	0.428000													34	60					2.08457e-15	3.4435e-15	0.010818	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65721189	65721189	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:65721189C>G	ENST00000532620.1	+	0	1534							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R405G(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCGGCCCAGCGCAAGCTGGA	0.711000													7	24					0	0	0.003080	0	0
YARS	8565	broad.mit.edu	37	1	33272110	33272110	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:33272110C>T	ENST00000373477.4	-	4	1391	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	161					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	p.L161L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGAGGCCACTCAGCAAAGGGT	0.522000													14	167					0	0	0.002450	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431453	106431453	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:106431453C>A	ENST00000407775.2	+	2	372	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	41					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.P41Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAGACTTTCCATTGGAGGAA	0.418000													8	116					1.06961e-07	1.43347e-07	0.003080	1	0
RGS20	8601	broad.mit.edu	37	8	54764607	54764607	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:54764607G>T	ENST00000297313.3	+	1	240	c.148G>T	c.(148-150)Gct>Tct	p.A50S	RGS20_ENST00000344277.6_Missense_Mutation_p.A50S	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	50					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A50S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGACCTCAGGGCTGTTCCTGA	0.433000													7	65					5.18039e-06	6.39282e-06	0.003080	1	0
DQX1	165545	broad.mit.edu	37	2	74750592	74750592	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:74750592C>T	ENST00000404568.3	-	5	1108	c.889G>A	c.(889-891)Gta>Ata	p.V297I	DQX1_ENST00000393951.2_Missense_Mutation_p.V297I|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	297	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding	p.V179I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGGCAGTACTCGTGGTGGA	0.557000													39	135					0	0	0.005524	0	0
CD109	135228	broad.mit.edu	37	6	74475751	74475751	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:74475751G>T	ENST00000437994.2	+	11	1637	c.1206G>T	c.(1204-1206)tgG>tgT	p.W402C	CD109_ENST00000287097.5_Missense_Mutation_p.W402C|CD109_ENST00000422508.2_Missense_Mutation_p.W325C	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	402						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.W402C(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						CTGAGTACTGGAGCGGATCTA	0.393000													16	42					4.7546e-09	6.69879e-09	0.004007	1	0
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; 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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552000		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)			24	33					0	0	0.004656	0	0
BACE1	23621	broad.mit.edu	37	11	117163902	117163902	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:117163902G>C	ENST00000313005.6	-	5	1168	c.708C>G	c.(706-708)atC>atG	p.I236M	BACE1_ENST00000510630.1_Missense_Mutation_p.I111M|BACE1_ENST00000513780.1_Missense_Mutation_p.I211M|BACE1_ENST00000445823.2_Missense_Mutation_p.I192M|BACE1_ENST00000392937.6_Missense_Mutation_p.I136M|BACE1_ENST00000428381.2_Missense_Mutation_p.I167M|BACE1_ENST00000528053.1_Missense_Mutation_p.I236M	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	236					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	p.I236M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TACCTCCAATGATCTAGGGAA	0.522000													5	110					0	0	0.001168	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998350	92998350	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:92998350A>T	ENST00000523629.1	-	9	1734		c.e9+1		RUNX1T1_ENST00000396218.1_Splice_Site|RUNX1T1_ENST00000265814.3_Splice_Site|RUNX1T1_ENST00000436581.2_Splice_Site|RUNX1T1_ENST00000520724.1_Splice_Site|RUNX1T1_ENST00000360348.2_Splice_Site|RUNX1T1_ENST00000422361.2_Splice_Site|RUNX1T1_ENST00000518844.1_Splice_Site	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)						generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(3)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AAGAAAAGTTACCTAGTGCAA	0.423000													7	188					0	0	0.003080	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512642	58512642	+	RNA	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:58512642G>A	ENST00000588627.1	-	0	715																											TTTCCCTTTGGGTACCTTCTC	0.502000													6	37					0	0	0.001984	0	0
EDNRB	1910	broad.mit.edu	37	13	78474043	78474043	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:78474043T>A	ENST00000377211.4	-	7	1567	c.1415A>T	c.(1414-1416)aAc>aTc	p.N472I	EDNRB_ENST00000446573.1_Missense_Mutation_p.N382I|EDNRB_ENST00000334286.5_Missense_Mutation_p.N382I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	382					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.N382I(1)|p.N472I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	AGCAATTGGGTTAATGCAGGA	0.338000													7	48					0	0	0.003080	0	0
LPIN2	9663	broad.mit.edu	37	18	2922155	2922155	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:2922155G>T	ENST00000261596.4	-	17	2455	c.2217C>A	c.(2215-2217)ggC>ggA	p.G739G		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	739	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	p.G739G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGTCGGCCATGCCGATGGCAC	0.552000													10	41					9.70103e-10	1.39888e-09	0.008291	1	0
CCKBR	887	broad.mit.edu	37	11	6291464	6291464	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6291464C>A	ENST00000525462.1	+	3	553	c.550C>A	c.(550-552)Cta>Ata	p.L184I	CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.L100I|CCKBR_ENST00000334619.2_Missense_Mutation_p.L184I			P32239	GASR_HUMAN	cholecystokinin B receptor	148					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.L184I(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGTCCGGACTACTCATGGT	0.672000													4	49					0.00116845	0.00126804	0.001168	1	0
ZNF354B	117608	broad.mit.edu	37	5	178293996	178293996	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:178293996A>T	ENST00000322434.3	+	4	406	c.180A>T	c.(178-180)ccA>ccT	p.P60P		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P60P(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACCAAACCAAAAGTCATCT	0.463000													9	102					0	0	0.006214	0	0
NTRK1	4914	broad.mit.edu	37	1	156846229	156846229	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:156846229T>A	ENST00000368196.3	+	13	1772	c.1652T>A	c.(1651-1653)tTc>tAc	p.F551Y	NTRK1_ENST00000392302.2_Missense_Mutation_p.F521Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.F554Y|NTRK1_ENST00000524377.1_Missense_Mutation_p.F557Y	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	557	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.F521Y(1)|p.F557Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CGGCAGGACTTCCAGCGTGAG	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			6	47					0	0	0.001168	0	0
LRWD1	222229	broad.mit.edu	37	7	102108635	102108635	+	Splice_Site	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:102108635G>C	ENST00000292616.5	+	6	956		c.e6+1			NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1						chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGGCAGCCAGGTGAGCTGAGG	0.682000													4	23					0	0	0.009096	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256515	140256515	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140256515G>C	ENST00000398631.2	+	1	1458	c.1458G>C	c.(1456-1458)aaG>aaC	p.K486N	PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.K486N(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)			ACGCGCAGAAGAACGCGCTGG	0.667000													4	78					0	0	0.004482	0	0
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						nucleolus		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577000													5	176					0	0	0.001168	0	0
FBXO38	81545	broad.mit.edu	37	5	147807061	147807061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:147807061G>T	ENST00000340253.5	+	15	2372	c.2204G>T	c.(2203-2205)gGc>gTc	p.G735V	FBXO38_ENST00000394370.3_Missense_Mutation_p.G735V|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	735						cytoplasm|nucleus		p.G735V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCGGCGGCTCTTCCGAG	0.612000													14	26					0.000308642	0.000343155	0.003163	1	0
ZNF746	155061	broad.mit.edu	37	7	149174083	149174083	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:149174083G>A	ENST00000340622.3	-	6	1048	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ZNF746_ENST00000458143.2_Silent_p.L256L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	256					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.L256L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTGGGGAGGGAGATCCGTTT	0.627000													11	73					0	0	0.010729	0	0
EDEM3	80267	broad.mit.edu	37	1	184681671	184681671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:184681671C>G	ENST00000318130.8	-	14	1698	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q	EDEM3_ENST00000367512.3_Missense_Mutation_p.E435Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	478					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.E435Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATAATGTCTTCTTTATCAGCA	0.279000													5	63					0	0	0.000602	0	0
PLEK	5341	broad.mit.edu	37	2	68607891	68607891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:68607891C>A	ENST00000234313.7	+	3	414	c.235C>A	c.(235-237)Cac>Aac	p.H79N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	79	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	p.H79N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		ACAGCAGGACCACTTCTTCCA	0.468000													31	140					1.56442e-22	2.74496e-22	0.012213	1	0
RYR3	6263	broad.mit.edu	37	15	34146975	34146975	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:34146975C>A	ENST00000389232.4	+	98	13939	c.13869C>A	c.(13867-13869)ctC>ctA	p.L4623L	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Silent_p.L4618L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4623					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L4622L(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)		AGTCCTTTCTCTACCTTGCCT	0.423000													33	196					8.73648e-17	1.46638e-16	0.004289	1	0
CHRNB2	1141	broad.mit.edu	37	1	154544067	154544067	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:154544067C>T	ENST00000368476.3	+	5	1032	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	256					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F256F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TCCTTGTCTTCTACCTGCCAT	0.547000													35	179					0	0	0.002836	0	0
KCNK13	56659	broad.mit.edu	37	14	90651011	90651011	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:90651011G>C	ENST00000282146.4	+	2	1332	c.891G>C	c.(889-891)ggG>ggC	p.G297G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.G297G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGACAGCGGGTGCTGCCCGC	0.537000													7	118					0	0	0.004482	0	0
AMY2B	280	broad.mit.edu	37	1	104114861	104114861	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:104114861A>G	ENST00000361355.4	+	4	914	c.298A>G	c.(298-300)Aga>Gga	p.R100G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	100					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R100G(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATGGTGACTAGATGTAACAA	0.358000													25	171					0	0	0.003954	0	0
COL19A1	1310	broad.mit.edu	37	6	70647965	70647965	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:70647965T>A	ENST00000322773.4	+	9	1011	c.909T>A	c.(907-909)ccT>ccA	p.P303P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	303	Triple-helical region 1 (COL1).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P303P(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						CGGGTTCACCTGGGCAGAAAG	0.398000													4	46					0	0	0.009096	0	0
LILRA3	11026	broad.mit.edu	37	19	54803140	54803140	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:54803140C>A	ENST00000391745.1	-	8	904	c.588G>T	c.(586-588)cgG>cgT	p.R196R	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Silent_p.R179R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.R179R(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAAGATGGCCCGGGATGACC	0.567000													23	126					2.21704e-12	3.42394e-12	0.002780	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417828	138417828	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:138417828T>C	ENST00000310018.2	-	17	1984	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R568G|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R568G	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	568					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.R568G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGAGAGTTCTTCTGAAGTAT	0.378000													10	33					0	0	0.008291	0	0
SEMA5A	9037	broad.mit.edu	37	5	9108268	9108268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:9108268C>A	ENST00000382496.5	-	16	2722	c.2057G>T	c.(2056-2058)tGt>tTt	p.C686F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	686	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.C686F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGCCTGCACAGTCAGGCCC	0.547000													10	25					0.000442599	0.000490524	0.006214	1	0
MDFIC	29969	broad.mit.edu	37	7	114655879	114655879	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:114655879G>A	ENST00000257724.3	+	5	1221	c.958G>A	c.(958-960)Gat>Aat	p.D320N	MDFIC_ENST00000393486.1_Missense_Mutation_p.D211N			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	211					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	p.D320N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GATGGGGGATGATTGTAACTG	0.488000													14	236					0	0	0.002450	0	0
TMEM144	55314	broad.mit.edu	37	4	159158747	159158747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:159158747G>T	ENST00000296529.6	+	9	1154	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	212						integral to membrane		p.D212Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTACATCAAGGACCACAGCAA	0.328000													5	63					1.024e-07	1.37765e-07	0.000602	1	0
TTN	7273	broad.mit.edu	37	2	179597036	179597036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179597036G>T	ENST00000589042.1	-	57	16884	c.16660C>A	c.(16660-16662)Ctg>Atg	p.L5554M	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4310M|TTN_ENST00000591111.1_Missense_Mutation_p.L5237M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5237	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L4310M(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)			TTCTTTAACAGCTGTGATGGC	0.388000													18	156					2.35188e-11	3.56366e-11	0.006122	1	0
CHL1	10752	broad.mit.edu	37	3	440829	440829	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:440829C>G	ENST00000256509.2	+	26	4025	c.3383C>G	c.(3382-3384)tCa>tGa	p.S1128*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.S1112*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1112					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.S1128*(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAAAGTACTCAGGTAAAATT	0.338000													11	65					0	0	0.010729	0	0
CYLD	1540	broad.mit.edu	37	16	50813643	50813643	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:50813643C>G	ENST00000540145.1	+	9	1621	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	CYLD_ENST00000568704.2_Intron|CYLD_ENST00000427738.3_Silent_p.L402L|CYLD_ENST00000398568.2_Silent_p.L399L|CYLD_ENST00000311559.9_Silent_p.L402L|CYLD_ENST00000564326.1_Silent_p.L399L|CYLD_ENST00000569418.1_Silent_p.L399L|CYLD_ENST00000566206.1_Silent_p.L399L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	402	Interaction with TRAF2.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.L402L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACCACCACTCCAGCCTCCTC	0.423000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				17	210					0	0	0.007413	0	0
FLT4	2324	broad.mit.edu	37	5	180056964	180056964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:180056964G>T	ENST00000261937.6	-	5	733	c.655C>A	c.(655-657)Ccc>Acc	p.P219T	FLT4_ENST00000502649.1_Missense_Mutation_p.P219T|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.P219T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	219	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	p.P219T(2)|p.P29T(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)	ACCAGGAAGGGGTTGGAAAGG	0.637000													8	33					1.06961e-07	1.43347e-07	0.003080	1	0
RAB37	326624	broad.mit.edu	37	17	72739292	72739292	+	Missense_Mutation	SNP	C	C	T	rs148960641		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:72739292C>T	ENST00000340415.3	+	4	1259	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	RAB37_ENST00000392612.3_Missense_Mutation_p.R54W|RAB37_ENST00000528438.1_Missense_Mutation_p.R64W|RAB37_ENST00000392610.1_Missense_Mutation_p.R91W|RAB37_ENST00000392613.5_Missense_Mutation_p.R91W|RAB37_ENST00000392615.5_Missense_Mutation_p.R59W|RAB37_ENST00000392614.4_Missense_Mutation_p.R96W|RAB37_ENST00000402449.4_Missense_Mutation_p.R84W	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	91					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.R84W(2)|p.R91W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGGGCAGGAACGGTTCCGAAG	0.597000													6	134					0	0	0.001168	0	0
FAM117A	81558	broad.mit.edu	37	17	47794983	47794983	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:47794983C>A	ENST00000240364.2	-	6	881	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	268								p.A268S(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGAGAGCTGGCAAGGTTGCCA	0.632000													19	51					0.000958276	0.00104539	0.007413	1	0
FCGR3A	2214	broad.mit.edu	37	1	161519571	161519571	+	Translation_Start_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161519571C>A	ENST00000436743.1	-	0	110				FCGR3A_ENST00000443193.1_Missense_Mutation_p.G22W|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G22W|FCGR3A_ENST00000540048.1_Intron	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.G22W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCCGGAGCCCTAAAGGGACC	0.522000													10	57					2.17888e-05	2.60567e-05	0.006214	1	0
CEP63	80254	broad.mit.edu	37	3	134251670	134251670	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:134251670G>T	ENST00000337090.3	+	5	542	c.369G>T	c.(367-369)agG>agT	p.R123S	CEP63_ENST00000383229.3_Missense_Mutation_p.R123S|CEP63_ENST00000354446.3_Missense_Mutation_p.R123S|CEP63_ENST00000332047.5_Missense_Mutation_p.R123S|CEP63_ENST00000606977.1_Missense_Mutation_p.R123S|CEP63_ENST00000513612.2_Missense_Mutation_p.R123S			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	123					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.R123S(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCAAATGAGGGAATTCAGAG	0.308000													7	33					0.000157383	0.000178402	0.003080	1	0
PDE10A	10846	broad.mit.edu	37	6	165801929	165801929	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:165801929A>T	ENST00000366882.1	-	18	1794	c.1640T>A	c.(1639-1641)cTg>cAg	p.L547Q	PDE10A_ENST00000539869.2_Missense_Mutation_p.L557Q|PDE10A_ENST00000354448.4_Missense_Mutation_p.L547Q			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	547					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.L547Q(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACACGCAATCAGCAGTCCTTT	0.473000													16	75					0	0	0.004990	0	0
PREX1	57580	broad.mit.edu	37	20	47364366	47364366	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:47364366G>T	ENST00000396220.1	-	2	293	c.271C>A	c.(271-273)Ctc>Atc	p.L91I	PREX1_ENST00000371941.3_Missense_Mutation_p.L91I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	91	DH.				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.L91I(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)			TCCTCCGTGAGGCCCTTCTCC	0.602000													10	26					6.40141e-05	7.42564e-05	0.010729	1	0
SLC46A2	57864	broad.mit.edu	37	9	115648836	115648836	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:115648836A>G	ENST00000374228.4	-	3	1505	c.1274T>C	c.(1273-1275)tTg>tCg	p.L425S		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	425						integral to membrane|plasma membrane	symporter activity	p.L425S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CTTGTTGTACAAGGTGGATGT	0.527000													22	75					0	0	0.003954	0	0
SLC1A3	6507	broad.mit.edu	37	5	36677263	36677263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:36677263G>T	ENST00000265113.4	+	6	1313	c.837G>T	c.(835-837)atG>atT	p.M279I	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.M279I	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	279					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.M279I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	AAGCCATCATGAGACTGGTAG	0.403000													6	71					3.59834e-05	4.22097e-05	0.001168	1	0
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9546931G>A	ENST00000378429.3	-	6	1637	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_ENST00000353224.5_Missense_Mutation_p.S364L|PAK7_ENST00000378423.1_Missense_Mutation_p.S364L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	364	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S364L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAATAGCCCGATTTGCTTTG	0.562000													9	197					0	0	0.006214	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543672	141543672	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:141543672T>A	ENST00000442267.2	-	21	3552	c.3478A>T	c.(3478-3480)Agc>Tgc	p.S1160C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1160						intracellular	calcium ion binding|Rab GTPase activator activity	p.S1160C(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACATGGAGCTGTCGTCCTTG	0.627000													8	93					0	0	0.003080	0	0
SASS6	163786	broad.mit.edu	37	1	100568609	100568609	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:100568609C>A	ENST00000287482.5	-	14	1716	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.G359W	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	526					centriole replication	centriole		p.G526W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAACCAATCCCACAGGTTGGG	0.378000													24	52					2.70639e-06	3.39193e-06	0.002299	1	0
EPB41L2	2037	broad.mit.edu	37	6	131186758	131186758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:131186758C>A	ENST00000337057.3	-	17	2928	c.2747G>T	c.(2746-2748)gGt>gTt	p.G916V	EPB41L2_ENST00000524581.1_Missense_Mutation_p.G294V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G846V|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G916V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G763V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G617V|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G37V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G658V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G846V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G658V|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G722V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	916	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	p.G916F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CGAATCACCACCAGCCCCGCC	0.483000													8	58					5.18039e-06	6.39282e-06	0.003080	1	0
CKM	1158	broad.mit.edu	37	19	45818777	45818777	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:45818777G>T	ENST00000221476.3	-	4	601	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	143	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.P143T(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CAGTGTGGGGGCAACGTGTAG	0.682000													4	32					0.00909568	0.00962096	0.009096	1	0
OR6Q1	219952	broad.mit.edu	37	11	57799360	57799360	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:57799360C>G	ENST00000302622.3	+	1	959	c.936C>G	c.(934-936)aaC>aaG	p.N312K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N312K(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTCTCTCAACTTTTGGAAGG	0.453000													6	74					0	0	0.001168	0	0
TBX18	9096	broad.mit.edu	37	6	85446986	85446986	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:85446986G>T	ENST00000369663.5	-	8	1578	c.1241C>A	c.(1240-1242)cCt>cAt	p.P414H	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	414					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P414N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ATAGTCAGCAGGGGCCAGACT	0.597000													19	68					8.10497e-08	1.09323e-07	0.010504	1	0
WDR17	116966	broad.mit.edu	37	4	177058693	177058693	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:177058693G>T	ENST00000393643.2	+	9	1542	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	WDR17_ENST00000508596.1_Silent_p.G430G|WDR17_ENST00000280190.4_Silent_p.G454G|WDR17_ENST00000507824.2_Silent_p.G437G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	454								p.G454G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTATTGCTGGGGGAACTTCCC	0.289000													9	40					2.17888e-05	2.60567e-05	0.006214	1	0
SAP30BP	29115	broad.mit.edu	37	17	73663513	73663513	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73663513G>C	ENST00000584667.1	+	1	318	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.E21Q	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	21					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.E21Q(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCAGAGCCCGAGTCTGATGG	0.607000													6	74					0	0	0.003080	0	0
PEG3	5178	broad.mit.edu	37	19	57326145	57326145	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57326145C>A	ENST00000326441.9	-	10	4028	c.3665G>T	c.(3664-3666)gGg>gTg	p.G1222V	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1222V|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1098V|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G1096V	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1222					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1222V(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATGGCCGACCCAGCAAGAGC	0.488000													18	53					4.75885e-15	7.78721e-15	0.004990	1	0
PPP1R15A	23645	broad.mit.edu	37	19	49378083	49378083	+	Silent	SNP	G	G	T	rs138580661		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:49378083G>T	ENST00000200453.5	+	2	1862	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	531	Interaction with MLL.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.L531L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		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;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCTCCGACTGCAAAGGCGGC	0.602000													10	47					1.58986e-06	2.01434e-06	0.008291	1	0
DSC1	1823	broad.mit.edu	37	18	28737517	28737517	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:28737517G>C	ENST00000257197.3	-	3	429	c.168C>G	c.(166-168)ctC>ctG	p.L56L	DSC1_ENST00000257198.5_Silent_p.L56L|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	56					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L56L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGGCCGACTTGAGACACTCCT	0.453000													7	78					0	0	0.003080	0	0
AC015849.16	0	broad.mit.edu	37	17	34234038	34234038	+	RNA	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:34234038T>A	ENST00000587132.1	-	0	3989																											CATGAGGACCTGGAGGCTCAG	0.577000													7	57					0	0	0.001984	0	0
CCDC38	120935	broad.mit.edu	37	12	96292419	96292419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:96292419G>T	ENST00000344280.3	-	6	1017	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	154								p.L154I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCTTGGAGCTTTTTCTCT	0.403000													34	91					2.80507e-11	4.22582e-11	0.012213	1	0
OR2AE1	81392	broad.mit.edu	37	7	99474611	99474611	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:99474611C>A	ENST00000316368.2	-	1	69	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G16W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGAAGAGCCCCTCAAGGATG	0.498000													16	99					3.52763e-06	4.38434e-06	0.004990	1	0
LRP2	4036	broad.mit.edu	37	2	170092556	170092556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:170092556C>A	ENST00000263816.3	-	29	4999	c.4714G>T	c.(4714-4716)Gac>Tac	p.D1572Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1572					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.D1572Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCCCCAGTCAGACCAGAAC	0.468000													4	21					0.00909568	0.00962096	0.009096	1	0
MED12L	116931	broad.mit.edu	37	3	150840592	150840592	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:150840592T>C	ENST00000474524.1	+	3	265	c.227T>C	c.(226-228)aTa>aCa	p.I76T	MED12L_ENST00000273432.4_Missense_Mutation_p.I76T|MED12L_ENST00000422248.2_Missense_Mutation_p.I76T|MED12L_ENST00000309237.4_Missense_Mutation_p.I76T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	76					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.I76T(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAGCAGCATATTAGCTGAG	0.358000													4	18					0	0	0.009096	0	0
OR6K3	391114	broad.mit.edu	37	1	158687521	158687521	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158687521G>T	ENST00000368146.1	-	1	432	c.433C>A	c.(433-435)Cct>Act	p.P145T	OR6K3_ENST00000368145.1_Missense_Mutation_p.P129T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P145T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TAGCGAAGAGGGTTGCAGATG	0.502000													15	143					4.93089e-13	7.71792e-13	0.002450	1	0
PCLO	27445	broad.mit.edu	37	7	82595231	82595231	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:82595231T>A	ENST00000423517.2	-	4	4210	c.3873A>T	c.(3871-3873)ccA>ccT	p.P1291P	PCLO_ENST00000333891.8_Silent_p.P1291P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1230					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P1291P(2)|p.P1230P(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						TCTTGGTCTGTGGTTGTTTCC	0.408000													40	148					0	0	0.006230	0	0
DMRT1	1761	broad.mit.edu	37	9	968030	968030	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:968030C>T	ENST00000382276.3	+	5	1162	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	DMRT1_ENST00000569227.1_Missense_Mutation_p.S180L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	338	Pro/Ser-rich.				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.S338L(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTTTCCCTCTCGAGCAGCTCT	0.517000													9	61					0	0	0.004482	0	0
ZNF239	8187	broad.mit.edu	37	10	44053404	44053404	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:44053404T>C	ENST00000306006.6	-	2	776	c.124A>G	c.(124-126)Aga>Gga	p.R42G	ZNF239_ENST00000535642.1_Missense_Mutation_p.R42G|ZNF239_ENST00000426961.1_Missense_Mutation_p.R42G|ZNF239_ENST00000374446.2_Missense_Mutation_p.R42G|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	42					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	p.R42G(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCTGTTTCTGGAAATAGGA	0.423000													32	100					0	0	0.003271	0	0
SPTA1	6708	broad.mit.edu	37	1	158612641	158612641	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158612641G>A	ENST00000368148.3	-	32	4748	c.4568C>T	c.(4567-4569)gCc>gTc	p.A1523V	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1523V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1523					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1523V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATCACAGGCTGTGGGCAG	0.443000													12	213					0	0	0.001855	0	0
ENPP6	133121	broad.mit.edu	37	4	185038113	185038113	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:185038113T>C	ENST00000296741.2	-	5	892	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	251					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.K251E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCAATCACTTTGTCCATCCAG	0.542000													13	42					0	0	0.001368	0	0
FCGR3B	2215	broad.mit.edu	37	1	161599655	161599655	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161599655C>T	ENST00000294800.3	-	3	505	c.232G>A	c.(232-234)Gct>Act	p.A78T	FCGR3B_ENST00000531221.1_Missense_Mutation_p.A114T|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A78T|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	78	Ig-like C2-type 1.		A -> D (in allele SH; dbSNP:rs5030738).		immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.A78S(1)|p.A78T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGTGGCAGCGTCAATGAAG	0.532000													8	156					0	0	0.008291	0	0
LAMA3	3909	broad.mit.edu	37	18	21441740	21441740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:21441740G>T	ENST00000313654.9	+	35	4794	c.4553G>T	c.(4552-4554)tGg>tTg	p.W1518L	LAMA3_ENST00000399516.3_Missense_Mutation_p.W1518L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1518	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.W1518L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCGCGTCCTGGGTCGCACCC	0.582000													5	17					0.000602214	0.000659719	0.000602	1	0
RNASE2	6036	broad.mit.edu	37	14	21424061	21424061	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:21424061A>T	ENST00000304625.2	+	2	221	c.131A>T	c.(130-132)aAt>aTt	p.N44I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	44					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.N44I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CAGCACATCAATATGACCTCC	0.453000													13	72					0	0	0.001855	0	0
NUP54	53371	broad.mit.edu	37	4	77065569	77065569	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:77065569G>C	ENST00000264883.3	-	2	265	c.125C>G	c.(124-126)tCt>tGt	p.S42C	NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Missense_Mutation_p.S42C	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	42	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.S42C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AGTTGGGGCAGAAAAGCTGAA	0.358000													7	51					0	0	0.003080	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59899255	59899255	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:59899255G>C	ENST00000265036.5	-	9	1272	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.S402C|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.S375C	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	402				S -> P (in Ref. 3; BAA92089).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S402C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CTCCTCTATAGAGGTCTGCAA	0.423000													3	86					0	0	0.009096	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	104					0	0	0.009096	0	0
KIAA0232	9778	broad.mit.edu	37	4	6878407	6878407	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:6878407G>A	ENST00000307659.5	+	9	4386	c.3931G>A	c.(3931-3933)Gga>Aga	p.G1311R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1311R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1311							ATP binding	p.G1311R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAATGCCAAGGGAGAGAGTGG	0.403000													6	54					0	0	0.001168	0	0
RFX5	5993	broad.mit.edu	37	1	151314850	151314850	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:151314850C>T	ENST00000290524.4	-	11	1841	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	RFX5_ENST00000452671.2_Missense_Mutation_p.E555K|RFX5_ENST00000452513.2_Missense_Mutation_p.E515K|RFX5_ENST00000368870.2_Missense_Mutation_p.E555K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	555						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E555K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATTTTATCTTCTGCTTCTTTG	0.532000													15	222					0	0	0.002450	0	0
PSG6	5675	broad.mit.edu	37	19	43414865	43414865	+	Missense_Mutation	SNP	C	C	G	rs1058688		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43414865C>G	ENST00000187910.2	-	3	638	c.573G>C	c.(571-573)agG>agC	p.R191S	PSG6_ENST00000402603.4_Missense_Mutation_p.R191S|PSG6_ENST00000292125.2_Missense_Mutation_p.R191S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6									p.R191S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGCTGCAACCTGTGAGTCA	0.498000													27	334					0	0	0.012213	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604800	80604800	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:80604800G>C	ENST00000254037.2	+	3	3726	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E191Q|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E191Q|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E191Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	191							nucleic acid binding|zinc ion binding	p.E191Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGTTTGTGGAGAAATGGGGCA	0.373000													13	38					0	0	0.001855	0	0
ZNF536	9745	broad.mit.edu	37	19	31040277	31040277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:31040277C>A	ENST00000355537.3	+	4	3898	c.3751C>A	c.(3751-3753)Ccg>Acg	p.P1251T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P1251T(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)					CCTGCCAAAGCCGGAGCGGGG	0.617000													7	37					0.00307968	0.0033044	0.003080	1	0
PPM1L	151742	broad.mit.edu	37	3	160783209	160783209	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:160783209C>A	ENST00000498165.1	+	3	694	c.593C>A	c.(592-594)gCt>gAt	p.A198D	PPM1L_ENST00000295839.9_Missense_Mutation_p.A71D|PPM1L_ENST00000464260.1_Missense_Mutation_p.A19D|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	198	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.A19D(1)|p.A198D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGTTTGATTGCTCTGCTATCA	0.493000													21	137					2.89027e-11	4.34164e-11	0.002299	1	0
FCGR3B	2215	broad.mit.edu	37	1	161596073	161596073	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161596073C>G	ENST00000294800.3	-	4	712	c.439G>C	c.(439-441)Gac>Cac	p.D147H	FCGR3B_ENST00000531221.1_Missense_Mutation_p.D183H|FCGR3B_ENST00000367964.2_Missense_Mutation_p.D147H|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR3A_ENST00000540048.1_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	147	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.D147H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACTTCCTGTCTTTGCCATTC	0.463000													8	66					0	0	0.004482	0	0
CXXC5	51523	broad.mit.edu	37	5	139060297	139060297	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:139060297T>C	ENST00000302517.3	+	2	903	c.189T>C	c.(187-189)ggT>ggC	p.G63G	CXXC5_ENST00000511048.1_Silent_p.G63G	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	63					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	p.G63G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAGCGGTATCATCAGTG	0.627000													10	44					0	0	0.010729	0	0
LINC01239	441389	broad.mit.edu	37	9	22823399	22823399	+	RNA	SNP	C	C	T	rs111465524	by1000genomes	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:22823399C>T	ENST00000436786.1	+	0	1534					NR_038977.1																						gcacccctcccgaggaaatct	0.547000													18	15					0	0	0.006122	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75941685	75941685	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:75941685G>A	ENST00000262207.4	+	14	1852	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.D274N|RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.D276N	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	462	LCCL 2.					extracellular region		p.D462N(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGTTATGTTGATGTAATGCC	0.378000													6	65					0	0	0.001168	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874821	117874821	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:117874821A>T	ENST00000357099.4	+	4	594	c.421A>T	c.(421-423)Agg>Tgg	p.R141W	ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Missense_Mutation_p.R68W|ANKRD7_ENST00000433239.1_Missense_Mutation_p.R68W|ANKRD7_ENST00000265224.4_Missense_Mutation_p.R121W			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	121					male gonad development			p.R141W(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CCCAGATCTGAGGGATATTCG	0.378000													11	111					0	0	0.010729	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801785	185801785	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:185801785G>T	ENST00000302277.6	+	4	2256	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	554						intracellular	zinc ion binding	p.K554N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTGTAAGATCAGAGAAA	0.338000													8	80					0.00307968	0.0033044	0.003080	1	0
IKBKE	9641	broad.mit.edu	37	1	206667311	206667311	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:206667311C>T	ENST00000367120.3	+	21	2477	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	IKBKE_ENST00000462698.1_3'UTR|C1orf147_ENST00000367119.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.R617C	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	702					DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.R702C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACAACAACCGCATCATCGA	0.602000													8	70					0	0	0.008291	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98175325	98175325	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:98175325C>G	ENST00000443455.1	-	0	1014							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TCTTTCTCGTCACTTGTAGCC	0.323000													3	50					0	0	0.001168	0	0
EPHA7	2045	broad.mit.edu	37	6	93974360	93974360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:93974360C>A	ENST00000369303.4	-	8	1878	c.1694G>T	c.(1693-1695)gGg>gTg	p.G565V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	565						integral to plasma membrane	ATP binding|ephrin receptor activity	p.G565V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATGATGGTCCCAGCTACAGC	0.388000													22	52					5.45024e-15	8.90462e-15	0.003330	1	0
PI16	221476	broad.mit.edu	37	6	36930959	36930959	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:36930959C>T	ENST00000373674.3	+	5	1169	c.841C>T	c.(841-843)Cca>Tca	p.P281S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	281						extracellular region|integral to membrane	peptidase inhibitor activity	p.P281S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACAGAGGCTCCACCTTGCGT	0.582000													15	69					0	0	0.002450	0	0
OR10C1	442194	broad.mit.edu	37	6	29408120	29408120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29408120G>T	ENST00000444197.2	+	1	1038	c.328G>T	c.(328-330)Gag>Tag	p.E110*	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E110*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCGCCACGGAGTGCTGCCT	0.607000													22	68					3.62473e-10	5.28522e-10	0.012319	1	0
TP53I11	9537	broad.mit.edu	37	11	44959781	44959781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:44959781C>A	ENST00000533940.1	-	5	710	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	TP53I11_ENST00000525680.1_Missense_Mutation_p.D36Y|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000395648.3_Missense_Mutation_p.D36Y|TP53I11_ENST00000531928.2_Missense_Mutation_p.D36Y|TP53I11_ENST00000308212.5_Missense_Mutation_p.D36Y	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	36					negative regulation of cell proliferation|response to stress	integral to membrane		p.D36Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACCTCCCCGTCGTCATCCTCC	0.677000													4	14					1.024e-07	1.37765e-07	0.000602	1	0
PDYN	5173	broad.mit.edu	37	20	1961039	1961039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:1961039C>A	ENST00000217305.2	-	4	920	c.695G>T	c.(694-696)cGc>cTc	p.R232L	PDYN_ENST00000540134.1_Missense_Mutation_p.R232L|PDYN_ENST00000539905.1_Missense_Mutation_p.R232L|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	232					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R232H(1)|p.R232L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTGAACTGGCGCCGGAGAAA	0.537000													18	176					3.32936e-07	4.37765e-07	0.006122	1	0
B3GNT1	11041	broad.mit.edu	37	11	66114003	66114003	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:66114003G>A	ENST00000311181.4	-	1	1160	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	338					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	p.F338F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGCGCTCGTCGAAGGTGGGCA	0.632000													5	84					0	0	0.000602	0	0
OR2T11	127077	broad.mit.edu	37	1	248789921	248789921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248789921C>A	ENST00000330803.2	-	1	570	c.509G>T	c.(508-510)aGt>aTt	p.S170I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S170I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ATGGTTGATACTTCGGGAGCC	0.507000													18	72					5.35267e-07	6.96781e-07	0.007413	1	0
RIMBP2	23504	broad.mit.edu	37	12	130907029	130907029	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:130907029C>G	ENST00000261655.4	-	13	2602	c.2439G>C	c.(2437-2439)caG>caC	p.Q813H		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	813						cell junction|synapse		p.Q813H(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGGGACCTCTGAGGACCAG	0.572000													6	45					0	0	0.001984	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023247	93023247	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:93023247C>A	ENST00000523629.1	-	5	995	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V154F|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V181F|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V192F|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V144F|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V144F|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V144F|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V154F|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.V144F	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	181	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V192F(1)|p.V181F(1)|p.V144F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AATGGGATGACAAAAGGTCTC	0.333000													40	54					8.48111e-28	1.52135e-27	0.003610	1	0
SLC30A5	64924	broad.mit.edu	37	5	68396736	68396736	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:68396736C>T	ENST00000396591.3	+	2	796	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC30A5_ENST00000380860.4_Silent_p.F62F|SLC30A5_ENST00000502979.1_Intron	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	62					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	p.F62F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGTTCAGTTCATTTTTATAT	0.303000													4	70					0	0	0.009096	0	0
COL21A1	81578	broad.mit.edu	37	6	56006587	56006587	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:56006587T>C	ENST00000244728.5	-	12	1935	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	COL21A1_ENST00000370819.1_Missense_Mutation_p.D510G|COL21A1_ENST00000535941.1_Missense_Mutation_p.D513G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	513					cell adhesion	collagen|cytoplasm	structural molecule activity	p.D513G(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)			GTTTACCTTGTCACCATCTCG	0.393000													5	72					0	0	0.003080	0	0
EDIL3	10085	broad.mit.edu	37	5	83402632	83402632	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:83402632C>A	ENST00000296591.5	-	6	904	c.486G>T	c.(484-486)ctG>ctT	p.L162L	EDIL3_ENST00000380138.3_Silent_p.L152L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	162	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.L162L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCAATTCCCAGTGGGCCTG	0.383000													48	110					2.81731e-22	4.93501e-22	0.003610	1	0
USH2A	7399	broad.mit.edu	37	1	216371752	216371752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216371752A>T	ENST00000366943.2	-	18	4372	c.3986T>A	c.(3985-3987)tTg>tAg	p.L1329*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.L1329*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.L1329*|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1329	Fibronectin type-III 3.				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.L1329*(1)		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)		GTATGGCTCCAAGCCAGTGAT	0.443000										HNSCC(13;0.011)			6	112					0	0	0.001168	0	0
UBR2	23304	broad.mit.edu	37	6	42625764	42625764	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:42625764C>T	ENST00000372901.1	+	27	3133	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	UBR2_ENST00000372883.3_Missense_Mutation_p.P463S|UBR2_ENST00000372899.1_Missense_Mutation_p.P959S			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	959					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.P959S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGCCGTAGAACCTGGTGAAGC	0.393000													60	209					0	0	0.003610	0	0
FERD3L	222894	broad.mit.edu	37	7	19184867	19184867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:19184867C>A	ENST00000275461.3	-	1	177	c.119G>T	c.(118-120)gGg>gTg	p.G40V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	40					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G40V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGCTGGGTCCCCCAAGGAGAC	0.662000													7	35					1.12685e-05	1.36477e-05	0.004482	1	0
PSME4	23198	broad.mit.edu	37	2	54122796	54122796	+	Missense_Mutation	SNP	T	T	C	rs139295214		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:54122796T>C	ENST00000404125.1	-	33	3821	c.3766A>G	c.(3766-3768)Ata>Gta	p.I1256V	PSME4_ENST00000421748.2_Missense_Mutation_p.I400V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1256					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.I1256V(1)|p.I1142V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTCTTGGTATAGTTTTGCTG	0.398000													35	234					0	0	0.003271	0	0
MUC16	94025	broad.mit.edu	37	19	9028316	9028316	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9028316C>G	ENST00000397910.4	-	11	36679	c.36476G>C	c.(36475-36477)aGa>aCa	p.R12159T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12161	SEA 1.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R12159T(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						CAGTCGCTCTCTGTCCAGTCC	0.562000													4	149					0	0	0.009096	0	0
SECISBP2	79048	broad.mit.edu	37	9	91943726	91943726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:91943726G>T	ENST00000375807.3	+	5	797	c.726G>T	c.(724-726)tgG>tgT	p.W242C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.W169C|SECISBP2_ENST00000534113.2_Missense_Mutation_p.W174C|SECISBP2_ENST00000470305.1_3'UTR	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	242					translation	nucleus	mRNA 3'-UTR binding	p.W242C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AACCCAAGTGGGGACCTGTCC	0.438000													11	38					2.27111e-07	3.00893e-07	0.001368	1	0
SERPINB3	6317	broad.mit.edu	37	18	61326698	61326698	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:61326698T>C	ENST00000283752.5	-	4	429	c.286A>G	c.(286-288)Act>Gct	p.T96A	SERPINB3_ENST00000332821.8_Missense_Mutation_p.T96A|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	96					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T96A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TATGCATCAGTGGATTTGTTG	0.383000													31	62					0	0	0.002836	0	0
TMEM182	130827	broad.mit.edu	37	2	103414427	103414427	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:103414427A>T	ENST00000412401.2	+	4	642	c.437A>T	c.(436-438)tAc>tTc	p.Y146F	TMEM182_ENST00000409528.1_Missense_Mutation_p.Y50F|TMEM182_ENST00000409173.1_Missense_Mutation_p.Y103F|TMEM182_ENST00000486293.1_3'UTR	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	146						integral to membrane		p.Y146F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CATTTTCTCTACAAAGCTGGG	0.488000													14	110					0	0	0.001855	0	0
HOXB9	3219	broad.mit.edu	37	17	46703206	46703206	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:46703206C>A	ENST00000311177.5	-	1	633	c.426G>T	c.(424-426)gcG>gcT	p.A142A	HOXB7_ENST00000567101.1_Intron|HOXB9_ENST00000550387.1_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	142					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A142A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CCTCCCTGCCCGCCGAAGTTT	0.612000													9	76					0.000978159	0.00106597	0.010729	1	0
FN1	2335	broad.mit.edu	37	2	216272028	216272028	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216272028A>G	ENST00000354785.4	-	18	2904	c.2535T>C	c.(2533-2535)taT>taC	p.Y845Y	FN1_ENST00000345488.5_Silent_p.Y845Y|FN1_ENST00000443816.1_Silent_p.Y845Y|FN1_ENST00000446046.1_Silent_p.Y845Y|FN1_ENST00000336916.4_Silent_p.Y845Y|FN1_ENST00000356005.4_Silent_p.Y845Y|FN1_ENST00000323926.6_Silent_p.Y845Y|FN1_ENST00000421182.1_Silent_p.Y845Y|FN1_ENST00000432072.2_Silent_p.Y845Y|FN1_ENST00000357009.2_Silent_p.Y845Y|FN1_ENST00000357867.4_Silent_p.Y845Y|FN1_ENST00000346544.3_Silent_p.Y845Y|FN1_ENST00000359671.1_Silent_p.Y845Y			P02751	FINC_HUMAN	fibronectin 1	845	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.Y845Y(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGATGGCGAATAGACTATTC	0.428000													13	133					0	0	0.004007	0	0
TRIM40	135644	broad.mit.edu	37	6	30105048	30105048	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:30105048T>A	ENST00000396581.1	+	2	621	c.235T>A	c.(235-237)Tgc>Agc	p.C79S	TRIM40_ENST00000376724.2_Missense_Mutation_p.C79S|TRIM40_ENST00000307859.4_Missense_Mutation_p.C79S			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	79						intracellular	zinc ion binding	p.C79S(1)		ovary(1)	1						GAAGAGGGTGTGCAGGTTCTG	0.552000													13	82					0	0	0.001368	0	0
USH2A	7399	broad.mit.edu	37	1	215960039	215960039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:215960039C>A	ENST00000366943.2	-	52	10746	c.10360G>T	c.(10360-10362)Ggg>Tgg	p.G3454W	USH2A_ENST00000307340.3_Missense_Mutation_p.G3454W			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3454	Fibronectin type-III 19.				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.G3454W(1)		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)		TTTACACTCCCTGTATGAATG	0.433000										HNSCC(13;0.011)			31	96					7.11191e-15	1.15832e-14	0.002836	1	0
OR4D6	219983	broad.mit.edu	37	11	59224956	59224956	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:59224956G>A	ENST00000300127.2	+	1	546	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D175N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAACACACTGGATGCCTTCTA	0.507000													34	152					0	0	0.010818	0	0
NOX5	79400	broad.mit.edu	37	15	69320705	69320705	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:69320705G>T	ENST00000260364.5	+	4	572	c.271_splice	c.e4+1	p.V91_splice	NOX5_ENST00000388866.3_Splice_Site_p.V109_splice|NOX5_ENST00000530406.2_Splice_Site_p.G109_splice|NOX5_ENST00000455873.3_Splice_Site_p.G102_splice|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Splice_Site_p.G91_splice			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	109	EF-hand 2.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.V91L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGACATCGATGGTAAGGGCTC	0.597000													12	75					1.3612e-06	1.73093e-06	0.003163	1	0
PRSS38	339501	broad.mit.edu	37	1	228003815	228003815	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228003815G>T	ENST00000366757.3	+	2	197	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	58					proteolysis	extracellular region	serine-type endopeptidase activity	p.G58V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCATGGAGGGGAAAATCCTG	0.692000													14	77					3.99206e-14	6.41186e-14	0.007413	1	0
EXPH5	23086	broad.mit.edu	37	11	108380887	108380887	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:108380887G>A	ENST00000265843.4	-	6	5457	c.5347C>T	c.(5347-5349)Ctg>Ttg	p.L1783L	EXPH5_ENST00000443411.1_Silent_p.L1595L|EXPH5_ENST00000525344.1_Silent_p.L1776L|EXPH5_ENST00000428840.1_Silent_p.L1707L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1783					intracellular protein transport		Rab GTPase binding	p.L1783L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCCACTCCAGAGATGAAGCA	0.478000													7	146					0	0	0.003080	0	0
DST	667	broad.mit.edu	37	6	56481202	56481202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:56481202C>A	ENST00000370765.6	-	24	7170	c.7063G>T	c.(7063-7065)Gct>Tct	p.A2355S	DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1685					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	p.A2355S(2)		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)			CTCTGGAAAGCCTCATACACG	0.378000													15	70					8.60227e-14	1.36694e-13	0.004007	1	0
TENM4	26011	broad.mit.edu	37	11	78412999	78412999	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:78412999G>T	ENST00000278550.7	-	28	5121	c.4659C>A	c.(4657-4659)gcC>gcA	p.A1553A		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.A1553A(2)									TCCCAAGGTCGGCCACGTAGA	0.483000													9	56					1.12685e-05	1.36477e-05	0.004482	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701607	56701607	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56701607C>A	ENST00000586855.2	-	5	1390	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	ZSCAN5B_ENST00000358992.3_Silent_p.V359V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	359					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V359V(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTATTGCACACGTCACATG	0.527000													19	80					6.49762e-13	1.01398e-12	0.006122	1	0
NTRK2	4915	broad.mit.edu	37	9	87366928	87366928	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:87366928G>A	ENST00000304053.6	+	12	1807	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	NTRK2_ENST00000323115.4_Missense_Mutation_p.V442M|NTRK2_ENST00000395866.2_Missense_Mutation_p.V286M|NTRK2_ENST00000359847.3_Missense_Mutation_p.V442M|NTRK2_ENST00000376213.1_Missense_Mutation_p.V442M|NTRK2_ENST00000395882.1_Missense_Mutation_p.V442M|NTRK2_ENST00000277120.3_Missense_Mutation_p.V442M|NTRK2_ENST00000376214.1_Missense_Mutation_p.V442M|NTRK2_ENST00000376208.1_Missense_Mutation_p.V442M	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	442					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	p.V442M(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GATTGCGTCTGTGGTGGGATT	0.418000										TSP Lung(25;0.17)			5	72					0	0	0.001168	0	0
TMEM38A	79041	broad.mit.edu	37	19	16799110	16799110	+	Silent	SNP	G	G	A	rs142098397		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16799110G>A	ENST00000187762.2	+	6	919	c.828G>A	c.(826-828)tcG>tcA	p.S276S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	276						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	p.S276S(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTCAGCATTCGGCCATGCCCG	0.647000													9	77					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	141762977	141762977	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141762977C>A	ENST00000389484.3	-	15	3401	c.2430G>T	c.(2428-2430)ttG>ttT	p.L810F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	810	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L810F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGGATAGCCAAGCAAAGTG	0.433000										TSP Lung(27;0.18)			17	72					0.00400662	0.00429017	0.004007	1	0
IFNA7	3444	broad.mit.edu	37	9	21202097	21202097	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:21202097C>A	ENST00000239347.3	-	1	107	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	23					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.G23V(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGATCACAGCCCAGAGAGCA	0.502000													9	114					1.12685e-05	1.36477e-05	0.004482	1	0
WBP2	23558	broad.mit.edu	37	17	73851355	73851355	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73851355C>T	ENST00000591399.1	-	2	448	c.24G>A	c.(22-24)tcG>tcA	p.S8S	WBP2_ENST00000344296.4_5'UTR|WBP2_ENST00000433525.2_Silent_p.S8S|WBP2_ENST00000590221.1_Silent_p.S8S|WBP2_ENST00000254806.3_Silent_p.S8S|WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000590450.1_5'UTR			Q969T9	WBP2_HUMAN	WW domain binding protein 2	8	GRAM.						protein binding	p.S8S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCGCCCTCCGAGTGATTCT	0.592000													23	240					0	0	0.003330	0	0
KCNN4	3783	broad.mit.edu	37	19	44273909	44273909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44273909C>A	ENST00000262888.3	-	5	1287	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	298	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	p.V298L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	AAGTTGTGCACGTGCTTCTCT	0.587000													19	94					6.94344e-10	1.0054e-09	0.006122	1	0
SLC26A7	115111	broad.mit.edu	37	8	92352651	92352651	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:92352651C>G	ENST00000276609.3	+	8	1137	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	SLC26A7_ENST00000309536.2_Missense_Mutation_p.P300A|SLC26A7_ENST00000523719.1_Missense_Mutation_p.P300A	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	300						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.P300A(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCTAGAGCTCCCCCGATGAA	0.453000													33	108					0	0	0.005524	0	0
PTPN5	84867	broad.mit.edu	37	11	18762209	18762209	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:18762209G>T	ENST00000396170.1	-	8	2024	c.760C>A	c.(760-762)Caa>Aaa	p.Q254K	PTPN5_ENST00000396171.4_Missense_Mutation_p.Q286K|PTPN5_ENST00000477854.1_Missense_Mutation_p.Q90K|PTPN5_ENST00000396168.1_Missense_Mutation_p.Q262K|PTPN5_ENST00000358540.2_Missense_Mutation_p.Q286K|PTPN5_ENST00000396167.2_Missense_Mutation_p.Q254K	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	286						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.Q286K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCTTCTGCTTGGAGGACACGG	0.612000													4	59					3.59834e-05	4.22097e-05	0.001168	1	0
SEZ6	124925	broad.mit.edu	37	17	27308745	27308745	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27308745G>A	ENST00000317338.12	-	2	796	c.368C>T	c.(367-369)aCt>aTt	p.T123I	SEZ6_ENST00000360295.9_Missense_Mutation_p.T123I|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.T123I|SEZ6_ENST00000442608.3_Missense_Mutation_p.T123I			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	123	Pro-rich.					integral to membrane|plasma membrane		p.T123I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATGGCTGGAGTGGGGCTGGT	0.647000													14	50					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141816619	141816619	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141816619C>T	ENST00000389484.3	-	9	2212	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	414					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R414K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAAAGATGTCTAACCTATAA	0.303000										TSP Lung(27;0.18)			7	114					0	0	0.001984	0	0
LMOD2	442721	broad.mit.edu	37	7	123302675	123302675	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:123302675G>A	ENST00000458573.2	+	2	1192	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	345						cytoskeleton	actin binding|tropomyosin binding	p.T345T(1)									TGAGCATGACGAGCATTTTGA	0.478000													6	124					0	0	0.001168	0	0
CTLA4	1493	broad.mit.edu	37	2	204736146	204736146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:204736146C>A	ENST00000302823.3	+	3	660	c.503C>A	c.(502-504)gCa>gAa	p.A168E	CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000295854.6_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	168					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		p.A168E(1)		large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TGGATCCTTGCAGCAGTTAGT	0.478000													10	218					3.86212e-05	4.51518e-05	0.008291	1	0
NAALAD2	10003	broad.mit.edu	37	11	89885563	89885563	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:89885563G>T	ENST00000534061.1	+	6	937	c.707G>T	c.(706-708)tGg>tTg	p.W236L	NAALAD2_ENST00000375944.3_Missense_Mutation_p.W236L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.W236L|NAALAD2_ENST00000321955.4_Missense_Mutation_p.W236L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	236					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	p.W236L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAAAGGATGGAATCTTCCT	0.468000													16	61					2.31682e-05	2.75485e-05	0.003163	1	0
STK10	6793	broad.mit.edu	37	5	171488231	171488231	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:171488231C>G	ENST00000176763.5	-	14	2467	c.2124G>C	c.(2122-2124)ctG>ctC	p.L708L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	708							ATP binding|protein serine/threonine kinase activity	p.L708L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCATGGCCAGCTCCAGGT	0.607000													40	104					0	0	0.011902	0	0
SLC17A2	10246	broad.mit.edu	37	6	25921630	25921630	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:25921630T>C	ENST00000377850.3	-	4	775	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	SLC17A2_ENST00000265425.3_Missense_Mutation_p.Y84C|SLC17A2_ENST00000360488.3_Missense_Mutation_p.Y84C			O00624	NPT3_HUMAN	solute carrier family 17, member 2	84					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.Y84C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCCATTGATACACAGAGGC	0.413000													6	38					0	0	0.003080	0	0
MRO	83876	broad.mit.edu	37	18	48331607	48331607	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:48331607C>T	ENST00000428869.2	-	6	604	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	MRO_ENST00000436348.2_Missense_Mutation_p.V130I|MRO_ENST00000588444.1_Missense_Mutation_p.V116I|MRO_ENST00000398439.3_Missense_Mutation_p.V116I|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Missense_Mutation_p.V130I|MRO_ENST00000256425.2_Missense_Mutation_p.V116I			Q9BYG7	MSTRO_HUMAN	maestro	116						nucleolus	binding	p.V116I(1)|p.V130I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCCAGAACGACGGTCAGAGTC	0.433000													7	55					0	0	0.001984	0	0
NLRP4	147945	broad.mit.edu	37	19	56382348	56382348	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56382348G>T	ENST00000301295.6	+	7	2932	c.2510G>T	c.(2509-2511)tGc>tTc	p.C837F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C781F|NLRP4_ENST00000587891.1_Missense_Mutation_p.C762F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	837							ATP binding	p.C837F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGACTGCTGCCTGGATTCA	0.507000													13	62					2.23348e-06	2.80935e-06	0.004007	1	0
GBF1	8729	broad.mit.edu	37	10	104129046	104129046	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104129046C>T	ENST00000369983.3	+	24	3309	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1017					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.H1017Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATTTGGCCCATCGTCATGG	0.507000													17	114					0	0	0.004007	0	0
ZNF71	58491	broad.mit.edu	37	19	57132765	57132765	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57132765G>C	ENST00000328070.6	+	3	344	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	37						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G37A(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCTCAGAAGGAGTGTGGGAA	0.607000													7	35					0	0	0.001984	0	0
PCYT1A	5130	broad.mit.edu	37	3	195968943	195968943	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:195968943T>C	ENST00000292823.2	-	8	756	c.584A>G	c.(583-585)cAg>cGg	p.Q195R	PCYT1A_ENST00000419333.1_Missense_Mutation_p.Q195R|PCYT1A_ENST00000431016.1_Missense_Mutation_p.Q195R	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	195	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	p.Q195R(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TTCTGTCCTCTGTGTTGGAGC	0.473000													30	72					0	0	0.008361	0	0
PEG3	5178	broad.mit.edu	37	19	57327947	57327947	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57327947A>G	ENST00000326441.9	-	10	2226	c.1863T>C	c.(1861-1863)taT>taC	p.Y621Y	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.Y621Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Silent_p.Y497Y|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.Y495Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	621					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y621Y(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTCTTTACCATACATTTTCT	0.443000													12	46					0	0	0.010729	0	0
LOC100130700	100130700	broad.mit.edu	37	16	34739704	34739704	+	RNA	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:34739704T>C	ENST00000562591.1	-	0	218					NR_034019.1																						TCTGCTCTTGTGTGTCCACCC	0.383000													3	37					0	0	0.004672	0	0
HAO2	51179	broad.mit.edu	37	1	119925580	119925580	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:119925580G>T	ENST00000361035.4	+	4	496	c.213G>T	c.(211-213)gtG>gtT	p.V71V	HAO2_ENST00000325945.3_Silent_p.V58V	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	58	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGTCTGAGGTGGACACCAGAA	0.552000													9	49					1.08611e-07	1.45185e-07	0.010729	1	0
PIEZO2	63895	broad.mit.edu	37	18	10671680	10671680	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:10671680A>G	ENST00000302079.6	-	51	7913	c.7914T>C	c.(7912-7914)ctT>ctC	p.L2638L	PIEZO2_ENST00000503781.3_Silent_p.L2701L|PIEZO2_ENST00000580640.1_Silent_p.L2726L|PIEZO2_ENST00000285141.4_Silent_p.L493L|PIEZO2_ENST00000538948.1_Silent_p.L658L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2701						integral to membrane	ion channel activity	p.L493L(1)|p.L2701L(1)									CCACATTTGGAAGCTCTTCAA	0.373000													11	74					0	0	0.010729	0	0
GBF1	8729	broad.mit.edu	37	10	104123116	104123116	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104123116A>G	ENST00000369983.3	+	16	2237	c.1977A>G	c.(1975-1977)tcA>tcG	p.S659S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	659					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S659S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGGAAATCAGGATGCAGTG	0.597000													3	83					0	0	0.004672	0	0
YJEFN3	374887	broad.mit.edu	37	19	19645921	19645921	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:19645921G>T	ENST00000555938.1	+	5	406	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	YJEFN3_ENST00000436027.4_Missense_Mutation_p.G83W|YJEFN3_ENST00000514277.3_Missense_Mutation_p.G133W														p.G133W(1)									CGGGGCAGTGGGGCTGGTCTG	0.627000													19	134					5.03518e-11	7.53113e-11	0.007413	1	0
IGFN1	91156	broad.mit.edu	37	1	201185842	201185842	+	Missense_Mutation	SNP	G	G	A	rs143611839		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:201185842G>A	ENST00000335211.4	+	16	9686	c.9556G>A	c.(9556-9558)Gag>Aag	p.E3186K	IGFN1_ENST00000295591.8_Missense_Mutation_p.E346K	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1									p.E346K(2)|p.E3186K(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGGGCTGGCGAGGCCCTGGA	0.657000													4	83					0	0	0.000602	0	0
LOC440040	440040	broad.mit.edu	37	11	49597847	49597847	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:49597847G>T	ENST00000527477.1	+	0	451																											GAAGATGTCCGTGGGAGTGCA	0.478000													10	28					5.16669e-11	7.70574e-11	0.010729	1	0
CT45A5	441521	broad.mit.edu	37	X	134947984	134947984	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:134947984G>T	ENST00000370724.3	-	3	585	c.341C>A	c.(340-342)tCc>tAc	p.S114Y	CT45A5_ENST00000491480.1_Missense_Mutation_p.S114Y|CT45A4_ENST00000420087.2_Intron	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	114								p.S114Y(1)		endometrium(1)|large_intestine(2)|lung(6)	9						TTTGGGAGAGGAGGCTATTCC	0.428000													10	153					3.07112e-06	3.82151e-06	0.010729	1	0
CMPK2	129607	broad.mit.edu	37	2	6990087	6990087	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:6990087T>A	ENST00000256722.5	-	5	1243	c.1244A>T	c.(1243-1245)cAg>cTg	p.Q415L	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	415					dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	p.Q415L(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCATCCGCTGGTAGGACAT	0.443000													24	63					0	0	0.004656	0	0
CPB1	1360	broad.mit.edu	37	3	148545844	148545844	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:148545844G>C	ENST00000491148.1	+	3	461	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	CPB1_ENST00000282957.4_Missense_Mutation_p.E43Q			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	43					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.E43Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATAATCCGCGAGTTGGCCAG	0.363000													6	54					0	0	0.001168	0	0
AHNAK	79026	broad.mit.edu	37	11	62288697	62288697	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62288697T>A	ENST00000378024.4	-	5	13466	c.13192A>T	c.(13192-13194)Aaa>Taa	p.K4398*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4398					nervous system development	nucleus	protein binding	p.K4398*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCACTTTGGGACCCTTC	0.468000													42	284					0	0	0.009718	0	0
NBPF1	55672	broad.mit.edu	37	1	16895686	16895686	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:16895686C>G	ENST00000430580.2	-	23	3383	c.2496G>C	c.(2494-2496)tgG>tgC	p.W832C	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	832	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AACCTTCATCCCAGGACTCCT	0.483000													20	414					0	0	0.002299	0	0
ASB9	140462	broad.mit.edu	37	X	15266879	15266879	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:15266879G>A	ENST00000546332.1	-	7	1230	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ASB9_ENST00000380488.4_Silent_p.F249F|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Silent_p.F239F|ASB9_ENST00000380485.3_Silent_p.F249F	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	249	SOCS box.				intracellular signal transduction			p.F249F(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTCTCTCCAAGAAGAGCTGGG	0.542000													10	41					0	0	0.008291	0	0
ACAP3	116983	broad.mit.edu	37	1	1231132	1231132	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:1231132C>A	ENST00000354700.5	-	18	1891	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V	ACAP3_ENST00000353662.3_Silent_p.V521V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	563					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.V563V(1)|p.V521V(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						ACAGAGCGGCCACACAGGGCA	0.706000													6	20					0.00116845	0.00126804	0.001168	1	0
OR2D2	120776	broad.mit.edu	37	11	6913519	6913519	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6913519G>A	ENST00000299459.2	-	1	311	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L71L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGAGAAACAGAGGTCAGCCA	0.453000													13	48					0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13841843	13841843	+	Silent	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:13841843T>G	ENST00000265104.4	-	33	5546	c.5442A>C	c.(5440-5442)acA>acC	p.T1814T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1814	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1814T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTGGAAACCTGTTTCTTGAA	0.388000									Kartagener syndrome				29	50					0	0	0.006320	0	0
CES1P1	51716	broad.mit.edu	37	16	55803950	55803950	+	RNA	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:55803950A>G	ENST00000571348.1	+	0	525					NR_003276.2																						CTTGCTGCCCATGAAAACGTG	0.567000													7	10					0	0	0.001984	0	0
WDR74	54663	broad.mit.edu	37	11	62606600	62606600	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62606600G>A	ENST00000525239.1	-	4	816	c.279C>T	c.(277-279)ctC>ctT	p.L93L	WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Silent_p.L93L|WDR74_ENST00000278856.4_Silent_p.L93L|WDR74_ENST00000311713.7_Silent_p.L93L|WDR74_ENST00000525752.1_Silent_p.L36L			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	93						nucleolus		p.L93L(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CGGCCTGGGCGAGGCCACGGA	0.622000													4	60					0	0	0.000602	0	0
PTPRS	5802	broad.mit.edu	37	19	5244311	5244311	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:5244311C>A	ENST00000372412.4	-	11	1407	c.1174G>T	c.(1174-1176)Ggc>Tgc	p.G392C	PTPRS_ENST00000587303.1_Missense_Mutation_p.G391C|PTPRS_ENST00000588012.1_Missense_Mutation_p.G378C|PTPRS_ENST00000592099.1_Missense_Mutation_p.G378C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.G391C|PTPRS_ENST00000262963.6_Missense_Mutation_p.G387C|PTPRS_ENST00000353284.2_Missense_Mutation_p.G378C|PTPRS_ENST00000348075.2_Missense_Mutation_p.G378C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	391	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G391C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGGCTCAGGCCGCCGATGCTG	0.582000													3	43					0.00024832	0.000277863	0.009096	1	0
NF1	4763	broad.mit.edu	37	17	29670033	29670033	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:29670033G>T	ENST00000358273.4	+	48	7452	c.7069G>T	c.(7069-7071)Gag>Tag	p.E2357*	NF1_ENST00000356175.3_Nonsense_Mutation_p.E2336*|NF1_ENST00000444181.2_Nonsense_Mutation_p.E150*|NF1_ENST00000417592.2_Nonsense_Mutation_p.E70*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2357			E -> K (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.E2357*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGAGTCCAGAGGAAGTATT	0.363000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	64					1.10513e-12	1.72203e-12	0.002299	1	0
C2orf16	84226	broad.mit.edu	37	2	27803250	27803250	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27803250C>G	ENST00000408964.2	+	1	3862	c.3811C>G	c.(3811-3813)Cag>Gag	p.Q1271E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1271								p.Q1271E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGAAAGCACTCAGAATGAAAA	0.408000													15	127					0	0	0.003163	0	0
MYO1F	4542	broad.mit.edu	37	19	8601438	8601438	+	Silent	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:8601438T>G	ENST00000338257.8	-	18	2110	c.1843A>C	c.(1843-1845)Agg>Cgg	p.R615R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	615	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R615R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGCGCACCCTGATGTTCTCC	0.647000													8	36					0	0	0.003080	0	0
VN1R2	317701	broad.mit.edu	37	19	53762734	53762734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53762734G>T	ENST00000341702.3	+	1	1190	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	369					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.C369F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTTCTCATGTGCCGTGACCCC	0.428000													31	147					7.26314e-15	1.18111e-14	0.007291	1	0
BTNL3	10917	broad.mit.edu	37	5	180419860	180419860	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:180419860G>A	ENST00000342868.6	+	2	281	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	33					lipid metabolic process	integral to membrane		p.G33R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGCCTTGGTGGGGGAGGACGC	0.537000													30	29					0	0	0.002836	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309560	89309560	+	RNA	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:89309560C>T	ENST00000493819.1	-	0	327																											TGAATTCTGTCCCAGATCCAC	0.478000													6	291					0	0	0.001984	0	0
UBR2	23304	broad.mit.edu	37	6	42613255	42613255	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:42613255A>G	ENST00000372901.1	+	21	2594	c.2336A>G	c.(2335-2337)aAg>aGg	p.K779R	UBR2_ENST00000372883.3_Missense_Mutation_p.K283R|UBR2_ENST00000372899.1_Missense_Mutation_p.K779R			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	779					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.K779R(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATGAAATCAAGCGAGAGATT	0.343000													15	47					0	0	0.002450	0	0
OR10A2	341276	broad.mit.edu	37	11	6891129	6891129	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6891129C>T	ENST00000307322.4	+	1	206	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F48F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCATGTACTTCTTCCTCAGAA	0.498000													16	191					0	0	0.004007	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95195932	95195932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:95195932G>T	ENST00000354268.4	+	13	1789	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCAD1_ENST00000509418.1_Missense_Mutation_p.K142N|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.K572N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	572	Helicase ATP-binding.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.K572N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTACTTTGAAGGTCCTCTGTT	0.323000													31	76					2.85442e-18	4.88526e-18	0.010818	1	0
FZD1	8321	broad.mit.edu	37	7	90896045	90896045	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:90896045C>T	ENST00000287934.2	+	1	2263	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	617					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.S617L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCATCACGTCGGGCTTCTGG	0.607000													8	59					0	0	0.003080	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437670	201437670	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:201437670T>C	ENST00000367311.3	-	1	642	c.245A>G	c.(244-246)gAg>gGg	p.E82G	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82G	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	p.E82G(1)		lung(1)|prostate(1)	2						GAAGTCGATCTCGCCGCCCCC	0.652000													6	110					0	0	0.001168	0	0
FPR3	2359	broad.mit.edu	37	19	52327484	52327484	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:52327484C>T	ENST00000339223.4	+	2	662	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FPR3_ENST00000595991.1_Silent_p.F161F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	161					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.F161F(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCAAATTTCATCTTCTGGA	0.473000													5	120					0	0	0.000602	0	0
FAM13C	220965	broad.mit.edu	37	10	61014171	61014171	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:61014171C>A	ENST00000373867.3	-	12	1485	c.1020G>T	c.(1018-1020)ccG>ccT	p.P340P	FAM13C_ENST00000442566.3_Silent_p.P444P|FAM13C_ENST00000468840.2_Silent_p.P340P|FAM13C_ENST00000277705.6_Silent_p.P444P|FAM13C_ENST00000422313.2_Silent_p.P423P|FAM13C_ENST00000435852.2_Silent_p.P423P|FAM13C_ENST00000373868.2_Silent_p.P423P|FAM13C_ENST00000419214.2_Silent_p.P325P	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	423								p.P423P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCATAAAGCGGCTTTATGA	0.353000													21	96					6.44725e-10	9.36152e-10	0.002299	1	0
DNAJB4	11080	broad.mit.edu	37	1	78479070	78479070	+	Missense_Mutation	SNP	C	C	G	rs141666453		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:78479070C>G	ENST00000370763.5	+	2	804	c.547C>G	c.(547-549)Cga>Gga	p.R183G	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	183					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	p.R183G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTTCTCGAAAAAGGCT	0.398000													29	85					0	0	0.010818	0	0
TG	7038	broad.mit.edu	37	8	133898771	133898771	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:133898771A>T	ENST00000220616.4	+	9	1194	c.1154A>T	c.(1153-1155)cAg>cTg	p.Q385L	TG_ENST00000377869.1_Missense_Mutation_p.Q385L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	385					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q385L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TACTTCAGCCAGCACGACCTG	0.537000													12	212					0	0	0.001368	0	0
SNHG14	104472715	broad.mit.edu	37	15	25310255	25310255	+	RNA	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:25310255C>A	ENST00000549804.2	+	0	538				SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA																							TCATTCTCATCGGAACTGAGG	0.458000													17	100					1.01871e-10	1.5107e-10	0.008871	1	0
GPR32	2854	broad.mit.edu	37	19	51274412	51274412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:51274412G>T	ENST00000270590.4	+	1	692	c.555G>T	c.(553-555)tgG>tgT	p.W185C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	185						integral to plasma membrane	N-formyl peptide receptor activity	p.W185C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGAAAATGGAATGGCTGTA	0.572000													9	50					1.12685e-05	1.36477e-05	0.004482	1	0
WNT10A	80326	broad.mit.edu	37	2	219754887	219754887	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:219754887G>T	ENST00000258411.3	+	3	1191	c.558G>T	c.(556-558)aaG>aaT	p.K186N		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	186					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.K186N(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTGGTAAGGGCCTGAGCC	0.672000													7	46					8.12818e-05	9.33534e-05	0.001984	1	0
DOCK2	1794	broad.mit.edu	37	5	169116294	169116294	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:169116294C>G	ENST00000256935.8	+	9	880	c.800C>G	c.(799-801)cCt>cGt	p.P267R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	267					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.P267R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGGCTTCCCTAAGGAGATT	0.527000													12	39					0	0	0.001368	0	0
CMBL	134147	broad.mit.edu	37	5	10288614	10288614	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:10288614C>T	ENST00000296658.3	-	3	663	c.243G>A	c.(241-243)ggG>ggA	p.G81G	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	81						cytosol	hydrolase activity|protein binding	p.G81G(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AAGGCTCTTGCCCTACAAAGA	0.438000													29	58					0	0	0.009535	0	0
KIF2B	84643	broad.mit.edu	37	17	51901063	51901063	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:51901063C>G	ENST00000268919.4	+	1	825	c.669C>G	c.(667-669)ctC>ctG	p.L223L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	223	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L223L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCGGCCTCTCAACCAGCGAG	0.552000													12	42					0	0	0.001368	0	0
SYNE1	23345	broad.mit.edu	37	6	152640026	152640026	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:152640026T>G	ENST00000367255.5	-	85	16962	c.16361A>C	c.(16360-16362)aAt>aCt	p.N5454T	SYNE1_ENST00000423061.1_Missense_Mutation_p.N5383T|SYNE1_ENST00000265368.4_Missense_Mutation_p.N5454T|SYNE1_ENST00000448038.1_Missense_Mutation_p.N5383T|SYNE1_ENST00000341594.5_Missense_Mutation_p.N5127T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5454					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.N5454T(2)|p.N5383T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAACTACATTATCTGTCTT	0.393000										HNSCC(10;0.0054)			14	32					0	0	0.003163	0	0
ERMAP	114625	broad.mit.edu	37	1	43308638	43308638	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:43308638C>T	ENST00000328249.3	+	9	1931	c.893C>T	c.(892-894)tCt>tTt	p.S298F	RP11-342M1.2_ENST00000416809.2_RNA|RP11-342M1.4_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.S388F|ERMAP_ENST00000372517.2_Missense_Mutation_p.S388F|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000425076.1_RNA			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	388	B30.2/SPRY.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane		p.S388F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTTCTCTGGCCCCCTT	0.453000													7	142					0	0	0.004482	0	0
ZRANB2	9406	broad.mit.edu	37	1	71534972	71534972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:71534972C>A	ENST00000370920.3	-	8	1058	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	ZRANB2_ENST00000254821.6_Missense_Mutation_p.G253W	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	253	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G253W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GATTTCGACCCACGAGATCTC	0.423000													29	82					1.16021e-09	1.6661e-09	0.007291	1	0
OBP2A	29991	broad.mit.edu	37	9	138440492	138440492	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:138440492C>G	ENST00000340780.3	+	5	434	c.392C>G	c.(391-393)tCt>tGt	p.S131C	OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000539850.1_Intron|OBP2A_ENST00000342114.4_Missense_Mutation_p.I86M			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	131					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTTTTAGCATCTGCTCCCTGC	0.622000													3	15					0	0	0.004672	0	0
FLG	2312	broad.mit.edu	37	1	152280610	152280611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152280610_152280611insA	ENST00000368799.1	-	3	6786_6787	c.6751_6752insT	c.(6751-6753)acafs	p.T2251fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2251	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAGTGTCCCTCACTGTCA	0.589									Ichthyosis				47	435	---	---	---	---					
SPTA1	6708	broad.mit.edu	37	1	158618322	158618322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158618322delC	ENST00000368148.3	-	26	3871	c.3691delG	c.(3691-3693)acfs	p.D1231fs	SPTA1_ENST00000368147.3_Frame_Shift_Del_p.D1231fs	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1231					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTACGAGGTCCCTTTCAAAG	0.502													39	105	---	---	---	---					
KIDINS220	57498	broad.mit.edu	37	2	8928836	8928836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:8928836delT	ENST00000256707.3	-	15	1909	c.1728delA	c.(1726-1728)aafs	p.K576fs	KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.K577fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.K576fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.K534fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.K576fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	576	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAACATCAATTTAAGGAGGA	0.423													12	92	---	---	---	---					
KIF3C	3797	broad.mit.edu	37	2	26203366	26203368	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:26203366_26203368delGCT	ENST00000264712.3	-	1	1998_2000	c.1419_1421delAGC	c.(1417-1422)gcc>gc	p.AA473del	KIF3C_ENST00000405914.1_In_Frame_Del_p.AA473del	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	473					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTGGATGGCTGCCTTCTCCT	0.611													8	110	---	---	---	---					
LINC01317	104355287	broad.mit.edu	37	2	34065528	34065528	+	RNA	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:34065528delC	ENST00000366209.2	+	0	68																											GGCCAAGTTACCGCGCCAGAA	0.493													13	160	---	---	---	---					
KIAA1841	84542	broad.mit.edu	37	2	61304276	61304276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61304276delG	ENST00000402291.1	+	6	894	c.653delG	c.(652-654)ttfs	p.C218fs	KIAA1841_ENST00000453873.1_Frame_Shift_Del_p.C218fs|KIAA1841_ENST00000356719.2_Frame_Shift_Del_p.C218fs|KIAA1841_ENST00000295031.5_Frame_Shift_Del_p.C218fs|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	218										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AATAAAGATTGTGAGATGCCC	0.378													29	105	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315269	73315269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:73315269delC	ENST00000258098.6	-	3	1717	c.1477delG	c.(1477-1479)ccfs	p.A493fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	493					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGTGGGGAGGCCCCCAGGATG	0.607													39	113	---	---	---	---					
POLR1B	84172	broad.mit.edu	37	2	113305054	113305055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:113305054_113305055insG	ENST00000263331.5	+	3	982_983	c.402_403insG	c.(400-405)ctgctafs	p.L135fs	POLR1B_ENST00000409894.3_Frame_Shift_Ins_p.L135fs|POLR1B_ENST00000541869.1_Frame_Shift_Ins_p.L173fs|POLR1B_ENST00000417433.2_Frame_Shift_Ins_p.L79fs|POLR1B_ENST00000537335.1_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	135					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGCAGTTTCTTGGCTATGTTCC	0.426													7	108	---	---	---	---					
UGGT1	56886	broad.mit.edu	37	2	128936041	128936041	+	Splice_Site	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:128936041delG	ENST00000375990.3	+	34	4044		c.e34-1		UGGT1_ENST00000259253.6_Splice_Site			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1						'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATTGTTATAGGGGCTTTACA	0.398													19	125	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179528792	179528792	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179528792delT	ENST00000589042.1	-	169	36538	c.36314delA	c.(36313-36315)agfs	p.K12106fs	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10255	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGACACTTTCTTTTCAGGGAT	0.383													9	157	---	---	---	---					
CPS1	1373	broad.mit.edu	37	2	211457611	211457611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:211457611delG	ENST00000233072.5	+	11	1291	c.1095delG	c.(1093-1095)atfs	p.M365fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.M371fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	365	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGGGGATTATGCATGAGAGCA	0.423													27	125	---	---	---	---					
KDR	3791	broad.mit.edu	37	4	55948769	55948769	+	Frame_Shift_Del	DEL	C	C	-	rs67220958		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:55948769delC	ENST00000263923.4	-	28	3991	c.3696delG	c.(3694-3696)cgfs	p.R1232fs	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1232					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCACAGGCCGGCTCTTTC	0.358			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	99	---	---	---	---					
ZDHHC11	79844	broad.mit.edu	37	5	814880	814881	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:814880_814881delGT	ENST00000283441.8	-	11	1559_1560	c.1176_1177delAC	c.(1174-1179)acttfs	p.TL392fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.TL392fs|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	392						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACTTACCCAAGTGTAGATATAC	0.376													28	69	---	---	---	---					
CTD-2296D1.4	0	broad.mit.edu	37	5	7372833	7372835	+	RNA	DEL	CCT	CCT	-	rs143913542		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:7372833_7372835delCCT	ENST00000513219.1	-	0	202																											accaccaccacctccaccatcac	0.581													3	3	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24487964	24487964	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24487964delG	ENST00000264463.4	-	12	2682	c.2175delC	c.(2173-2175)ccfs	p.P725fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	725					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGGTGCGGTGGGGTCAAGAT	0.458										HNSCC(23;0.051)			13	153	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157528151	157528152	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:157528151_157528152insT	ENST00000346085.5	+	20	5877_5878	c.5876_5877insT	c.(5875-5877)cggfs	p.R1959fs	ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.R1999fs|ARID1B_ENST00000350026.5_Frame_Shift_Ins_p.R1946fs|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.R1941fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1946					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCATTCGTGCCTGGCAATGATG	0.550													31	184	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													4	3	---	---	---	---					
XKR6	286046	broad.mit.edu	37	8	10755642	10755642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10755642delC	ENST00000416569.2	-	3	1772	c.1746delG	c.(1744-1746)ggfs	p.G582fs	XKR6_ENST00000304437.2_Frame_Shift_Del_p.G303fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	582						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TAATGAGGGGCCCTTCTGGGA	0.512													20	77	---	---	---	---					
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:3701483delG	ENST00000382622.3	+	9	1456	c.1066delG	c.(1066-1068)ggfs	p.G356fs	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Frame_Shift_Del_p.G347fs	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	356					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557													47	97	---	---	---	---					
AKAP3	10566	broad.mit.edu	37	12	4737560	4737560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:4737560delT	ENST00000545990.2	-	5	1032	c.508delA	c.(508-510)gcfs	p.S170fs	AKAP3_ENST00000228850.1_Frame_Shift_Del_p.S170fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	170					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			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						TTACTGAGGCTTTTGGTGGGT	0.498													68	198	---	---	---	---					
GPR133	283383	broad.mit.edu	37	12	131466440	131466448	+	In_Frame_Del	DEL	TCTTTTTTC	TCTTTTTTC	-	rs74744169	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:131466440_131466448delTCTTTTTTC	ENST00000261654.5	+	5	881_889	c.322_330delTCTTTTTTC	c.(322-330)del	p.SFF108del	GPR133_ENST00000535015.1_In_Frame_Del_p.SFF140del	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTCACGTTTTCTTTTTTCTGGAAGACAC	0.474													51	113	---	---	---	---					
RP11-407N17.3	0	broad.mit.edu	37	14	39716921	39716921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:39716921delT	ENST00000553728.1	+	4	1356	c.1143delT	c.(1141-1143)ggfs	p.G381fs	MIA2_ENST00000280082.3_Frame_Shift_Del_p.G381fs|MIA2_ENST00000556784.1_Frame_Shift_Del_p.G380fs																							TTGATTTTGGTTTTGCTATAC	0.358													7	78	---	---	---	---					
ITGAL	3683	broad.mit.edu	37	16	30486668	30486668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:30486668delG	ENST00000356798.6	+	3	386	c.206delG	c.(205-207)acfs	p.S69fs	ITGAL_ENST00000454514.2_Frame_Shift_Del_p.S69fs|ITGAL_ENST00000358164.5_Frame_Shift_Del_p.S69fs|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	69					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGCACAGGAAGCCTCTATCAG	0.592													14	150	---	---	---	---					
CCDC144NL-AS1	440416	broad.mit.edu	37	17	20806034	20806035	+	RNA	INS	-	-	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:20806034_20806035insA	ENST00000577537.1	+	0	1218_1219				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA																							ACTCTGCGGCCAGGAACAGAAG	0.584													6	7	---	---	---	---					
TOM1L1	10040	broad.mit.edu	37	17	52990037	52990038	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:52990037_52990038delTG	ENST00000575882.1	+	4	586_587	c.233_234delTG	c.(232-234)afs	p.M78fs	TOM1L1_ENST00000445275.2_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000575333.1_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000536554.1_Start_Codon_Del|TOM1L1_ENST00000570371.1_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000572158.1_Intron|TOM1L1_ENST00000572405.1_Frame_Shift_Del_p.M43fs|TOM1L1_ENST00000348161.4_Start_Codon_Del|TOM1L1_ENST00000540336.1_Start_Codon_Del	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	78	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTTATTGACATGTGTGTGCAGA	0.337													15	71	---	---	---	---					
MPO	4353	broad.mit.edu	37	17	56350859	56350859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56350859delC	ENST00000340482.3	-	8	1809	c.1633delG	c.(1633-1635)acfs	p.D545fs	MPO_ENST00000225275.3_Frame_Shift_Del_p.D513fs			P05164	PERM_HUMAN	myeloperoxidase	513					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TACCGATTGTCCAGGCGGAAC	0.592													29	164	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67303002	67303002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:67303002delG	ENST00000392676.3	-	6	716	c.652delC	c.(652-654)gafs	p.R218fs	ABCA5_ENST00000392677.2_Frame_Shift_Del_p.R218fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.R218fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	218					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ATTACTCCTCGGGGAAAGGTA	0.323													21	98	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9071588	9071589	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9071588_9071589insA	ENST00000397910.4	-	3	16060_16061	c.15857_15858insT	c.(15856-15858)tgafs	p.*5286fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5288	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TTGATGTGTCCAAGGGAAGGGT	0.525													20	85	---	---	---	---					
ZNF420	147923	broad.mit.edu	37	19	37618899	37618907	+	In_Frame_Del	DEL	GAATGTAAG	GAATGTAAG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:37618899_37618907delGAATGTAAG	ENST00000337995.3	+	5	1221_1229	c.1006_1014delGAATGTAAG	c.(1006-1014)del	p.ECK336del	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_In_Frame_Del_p.ECK336del	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATATGAATGTAAGGAATGTGGAA	0.407													7	103	---	---	---	---					
ZNF226	7769	broad.mit.edu	37	19	44680896	44680897	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44680896_44680897delAG	ENST00000590089.1	+	7	1848_1849	c.1481_1482delAG	c.(1480-1482)cfs	p.Q494fs	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.Q494fs|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.Q494fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAAGCCCATCAGAGAGTCCACA	0.460													9	114	---	---	---	---