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
RLTPR	146206	broad.mit.edu	37	16	67683016	67683016	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67683016C>A	ENST00000334583.6	+	18	1957	c.1629C>A	c.(1627-1629)atC>atA	p.I543I	RLTPR_ENST00000545661.1_Silent_p.I507I	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	543										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGCTGGCCATCGGGAGAAGCC	0.627000													20	7					1.64113e-05	1.72692e-05	1	1	0
RBFOX1	54715	broad.mit.edu	37	16	7760721	7760721	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:7760721G>T	ENST00000340209.4	+	13	1480	c.1183G>T	c.(1183-1185)Gga>Tga	p.G395*	RBFOX1_ENST00000311745.5_Nonsense_Mutation_p.G411*|RBFOX1_ENST00000553186.1_Nonsense_Mutation_p.G363*|RBFOX1_ENST00000436368.2_Nonsense_Mutation_p.G385*|RBFOX1_ENST00000355637.4_3'UTR|RBFOX1_ENST00000547372.1_3'UTR|RBFOX1_ENST00000550418.1_Nonsense_Mutation_p.G390*|RBFOX1_ENST00000547338.1_Nonsense_Mutation_p.G390*|RBFOX1_ENST00000552089.1_3'UTR			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	390					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			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						ATACCGAGGGGGATACAACCG	0.448000													30	39					8.88839e-20	1.034e-19	1	1	0
LACTB2	51110	broad.mit.edu	37	8	71570032	71570032	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:71570032C>G	ENST00000276590.4	-	3	408	c.372G>C	c.(370-372)ctG>ctC	p.L124L	RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000522447.1_Silent_p.L124L	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	124							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTCCATCTTTCAGATAAACAT	0.383000													27	37					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263919	120263919	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:120263919A>G	ENST00000369407.3	+	1	1670	c.163A>G	c.(163-165)Aca>Gca	p.T55A	PHGDH_ENST00000369409.4_Missense_Mutation_p.T89A			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	89					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGAGGCCGCAACAAGGAAGGG	0.577000													46	58					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95523458	95523458	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:95523458G>C	ENST00000297591.5	-	13	3420	c.3345C>G	c.(3343-3345)ctC>ctG	p.L1115L	KIAA1429_ENST00000421249.2_Silent_p.L1115L|KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Silent_p.L1115L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1115					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCTCTGAAAGGAGTATGAGTC	0.373000													17	17					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239153	126239153	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:126239153C>T	ENST00000394329.3	+	1	1600	c.1587C>T	c.(1585-1587)agC>agT	p.S529S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGAACATAGCGGCCTCGTGA	0.542000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	6					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97822808	97822808	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:97822808G>C	ENST00000297293.5	+	11	3324	c.3031G>C	c.(3031-3033)Gac>Cac	p.D1011H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1011					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGCGCTACTGGACTCTTTAGG	0.582000													18	72					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63554681	63554681	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:63554681C>T	ENST00000307078.5	-	2	371	c.58G>A	c.(58-60)Gat>Aat	p.D20N	AXIN2_ENST00000375702.5_Missense_Mutation_p.D20N|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	20					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CGCGGGGCATCCTCACGGAAG	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	61					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9517533	9517533	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:9517533C>G	ENST00000402466.1	+	24	4561	c.3793C>G	c.(3793-3795)Cag>Gag	p.Q1265E	SETD5_ENST00000302463.6_Missense_Mutation_p.Q1265E|SETD5_ENST00000407969.1_Missense_Mutation_p.Q1382E|SETD5_ENST00000402198.1_Missense_Mutation_p.Q1363E|SETD5_ENST00000406341.1_Missense_Mutation_p.Q1363E			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1363	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCAGTTTCTCAGTCCAGCAC	0.552000													43	3					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49496313	49496313	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:49496313C>A	ENST00000323798.3	-	1	253	c.57G>T	c.(55-57)gaG>gaT	p.E19D	GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_De_novo_Start_InFrame|GYS1_ENST00000540532.1_De_novo_Start_InFrame|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.E19D	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	19					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CGAATTCATCCTCCCAGTCCT	0.617000											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	63					4.35082e-09	4.75101e-09	1	1	0
OPA3	80207	broad.mit.edu	37	19	46032601	46032601	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:46032601C>G	ENST00000323060.3	-	2	333	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	86					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATGATGCCCTCGCCCAGCAGC	0.627000													55	36					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889544	112889544	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:112889544G>A	ENST00000161863.4	+	15	2258	c.2045G>A	c.(2044-2046)cGa>cAa	p.R682Q	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R682Q	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	682	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GCAGGTGTTCGAAAAATAGTA	0.284000													13	7					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347066	72347066	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr18:72347066A>C	ENST00000299687.5	+	1	4091	c.4091A>C	c.(4090-4092)aAg>aCg	p.K1364T	ZNF407_ENST00000309902.6_Missense_Mutation_p.K1364T|ZNF407_ENST00000582337.1_Missense_Mutation_p.K1364T|ZNF407_ENST00000577538.1_Missense_Mutation_p.K1364T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATAAGAATAAAGAACCCTGAA	0.413000													41	45					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30338207	30338207	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:30338207G>A	ENST00000389194.2	-	11	2286	c.2281C>T	c.(2281-2283)Ctt>Ttt	p.L761F	LTN1_ENST00000389195.2_Missense_Mutation_p.L761F|LTN1_ENST00000361371.5_Missense_Mutation_p.L715F	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	715			V -> I (in dbSNP:rs34635840).				ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATCTTAAGAAGAGAATTCCAT	0.303000													6	11					0	0	1	0	0
INSIG2	51141	broad.mit.edu	37	2	118865859	118865859	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:118865859C>G	ENST00000245787.4	+	6	845	c.639C>G	c.(637-639)taC>taG	p.Y213*	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	213					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTTTGCAGTACGAATGTAAAG	0.289000													16	51					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63200395	63200395	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:63200395C>A	ENST00000449996.3	+	15	1242	c.1170C>A	c.(1168-1170)acC>acA	p.T390T	RGS9_ENST00000443584.3_Silent_p.T390T|RGS9_ENST00000262406.9_Silent_p.T393T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	393	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCGCACAAACCCACATTTACA	0.532000													10	72					0.000442599	0.00045947	1	1	0
TNIP1	10318	broad.mit.edu	37	5	150444592	150444592	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:150444592G>A	ENST00000389378.2	-	2	653	c.65C>T	c.(64-66)tCc>tTc	p.S22F	TNIP1_ENST00000522226.1_Missense_Mutation_p.S22F|TNIP1_ENST00000521591.1_Missense_Mutation_p.S22F|TNIP1_ENST00000524280.1_Missense_Mutation_p.S22F|TNIP1_ENST00000315050.7_Missense_Mutation_p.S22F|TNIP1_ENST00000518977.1_Missense_Mutation_p.S22F|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.S22F|TNIP1_ENST00000523338.1_Missense_Mutation_p.S22F	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	22					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAAGCTGCGGATGCCTCTCC	0.597000													6	22					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811424	7811424	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:7811424A>T	ENST00000303635.7	+	20	5062	c.4855A>T	c.(4855-4857)Acg>Tcg	p.T1619S	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1605S|CAMTA1_ENST00000476864.1_Missense_Mutation_p.T183S	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1619	IQ 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGCTCGCCGGACGGCTGTGAT	0.483000			T	WWTR1	epitheliod hemangioendothelioma								23	90					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2436148	2436148	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:2436148C>A	ENST00000419816.2	+	22	4021	c.3747C>A	c.(3745-3747)ccC>ccA	p.P1249P	PLCH2_ENST00000378486.3_Silent_p.P1249P|PLCH2_ENST00000378488.3_Silent_p.P1213P|PLCH2_ENST00000449969.1_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1249					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		AGGACTGCCCCGTGGCTGCCA	0.682000													4	39					0.150653	0.151636	1	1	0
TADA2A	6871	broad.mit.edu	37	17	35834661	35834661	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:35834661G>A	ENST00000394395.2	+	15	1246	c.1073G>A	c.(1072-1074)gGt>gAt	p.G358D	TADA2A_ENST00000225396.6_Splice_Site_p.G358D	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	358	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CTGTCTATAGGTAGACGGAGT	0.453000													10	4					0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131130913	131130913	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:131130913C>T	ENST00000357668.1	-	18	1643	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q	ASAP1_ENST00000518721.1_Missense_Mutation_p.R539Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	539	Arf-GAP.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ATATTCTTTTCGTACAGTCCT	0.313000													30	23					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123780576	123780576	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:123780576C>T	ENST00000422452.2	-	9	1727	c.1664G>A	c.(1663-1665)gGa>gAa	p.G555E	TENM1_ENST00000371130.3_Missense_Mutation_p.G555E	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACAGTCAGGTCCAAGGAATCC	0.368000													15	32					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492346	56492346	+	Silent	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:56492346T>C	ENST00000267101.3	+	22	3119	c.2679T>C	c.(2677-2679)gaT>gaC	p.D893D	ERBB3_ENST00000415288.2_Silent_p.D834D|ERBB3_ENST00000450146.2_Silent_p.D250D|ERBB3_ENST00000549832.1_5'UTR|ERBB3_ENST00000553131.1_Silent_p.D134D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	893	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ACCAGAGTGATGTCTGGAGCT	0.453000													25	54					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683409	67683409	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67683409C>T	ENST00000334583.6	+	20	2134	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L	RLTPR_ENST00000545661.1_Silent_p.L566L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	602	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGTCCTACTCCGGGCCCTAG	0.632000													39	29					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59271356	59271356	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:59271356G>C	ENST00000320743.3	-	15	2648	c.2362C>G	c.(2362-2364)Cca>Gca	p.P788A	LRIG3_ENST00000379141.4_Missense_Mutation_p.P728A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	788						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCGCAGGTTGGAGTGGGGATC	0.552000			T	ROS1	NSCLC								46	24					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6605263	6605263	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:6605263G>A	ENST00000321612.6	-	6	879	c.729C>T	c.(727-729)ctC>ctT	p.L243L		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	243					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCAGCTCAGTGAGGACTCCAG	0.423000													19	6					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20482506	20482506	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:20482506G>A	ENST00000573854.1	+	5	822	c.708G>A	c.(706-708)tcG>tcA	p.S236S	ACSM2A_ENST00000536134.1_Intron|ACSM2A_ENST00000219054.6_Silent_p.S236S|ACSM2A_ENST00000575690.1_Silent_p.S236S|ACSM2A_ENST00000417235.2_Silent_p.S157S|ACSM2A_ENST00000396104.2_Silent_p.S236S|ACSM2A_ENST00000575558.1_3'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	236					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATTCCTACTCGAGCCTGGGCC	0.502000													16	37					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33171324	33171324	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:33171324C>T	ENST00000374677.3	+	7	1517	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	SLC39A7_ENST00000374675.3_Missense_Mutation_p.R382C|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	382						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	p.R382C(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCAGGCGATGCGTCTGCAACT	0.527000													3	29					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103324468	103324468	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:103324468G>C	ENST00000520539.1	-	18	2763	c.2157C>G	c.(2155-2157)gtC>gtG	p.V719V	UBR5_ENST00000220959.4_Silent_p.V719V|UBR5_ENST00000521922.1_Silent_p.V713V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	719					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CACCAGTTTTGACAACCTGCA	0.368000													18	20					0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128388726	128388726	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:128388726A>C	ENST00000535623.1	+	3	1056	c.113A>C	c.(112-114)cAt>cCt	p.H38P	CALU_ENST00000249364.4_Missense_Mutation_p.H30P|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Missense_Mutation_p.H30P|CALU_ENST00000542996.2_Missense_Mutation_p.H38P|CALU_ENST00000479257.1_Missense_Mutation_p.H38P|CALU_ENST00000535011.2_Missense_Mutation_p.H30P	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	30					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						CGTGTACATCATGAGCCTCAG	0.463000													26	67					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60059951	60059951	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:60059951G>A	ENST00000397786.2	-	16	3489	c.3413C>T	c.(3412-3414)tCa>tTa	p.S1138L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1138					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AAATAATCCTGAATTGTTTCC	0.423000													38	225					0	0	1	0	0
TULP3	7289	broad.mit.edu	37	12	3046852	3046852	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:3046852G>C	ENST00000448120.2	+	9	1031	c.980G>C	c.(979-981)gGa>gCa	p.G327A	TULP3_ENST00000397132.2_Missense_Mutation_p.G327A	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	327					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			ATCATTCCTGGAATGACACTG	0.363000													96	4					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516444	138516444	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:138516444G>C	ENST00000371763.1	-	5	583	c.330C>G	c.(328-330)atC>atG	p.I110M		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	110					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGATGTAGAAGATCACTCGGT	0.512000													39	5					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99772354	99772354	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:99772354G>A	ENST00000370185.3	+	7	2577	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	LPPR4_ENST00000457765.1_Missense_Mutation_p.E636K|LPPR4_ENST00000370184.1_Missense_Mutation_p.E536K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		694							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGATAGCAATGAGCATCACCA	0.512000													9	19					0	0	1	0	0
PPID	5481	broad.mit.edu	37	4	159642551	159642551	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:159642551C>G	ENST00000307720.3	-	2	277	c.170G>C	c.(169-171)gGc>gCc	p.G57A		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	57	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTGTCCAATGCCTTTTTCTCC	0.368000													7	8					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25326441	25326441	+	RNA	SNP	T	T	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:25326441T>G	ENST00000546682.1	+	0	71				SNHG14_ENST00000549804.2_RNA|SNORD116-15_ENST00000384445.1_RNA	NR_003361.1																						TGTGGATCGATGATGACTTCC	0.458000													38	208					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103846431	103846431	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:103846431A>T	ENST00000337198.5	-	8	1890	c.727T>A	c.(727-729)Ttt>Att	p.F243I	AZIN1_ENST00000347770.4_Missense_Mutation_p.F243I	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	243					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding	p.F243fs*6(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TCCAATTGAAATTCAGTTCCC	0.333000													16	39					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489247	128489247	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:128489247G>T	ENST00000325888.8	+	29	5201	c.4940G>T	c.(4939-4941)gGc>gTc	p.G1647V	FLNC_ENST00000346177.6_Missense_Mutation_p.G1647V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1647					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCCATTGGAGGCCATGGCCTG	0.662000													10	21					0.000442599	0.00045947	1	1	0
MTMR4	9110	broad.mit.edu	37	17	56584505	56584505	+	Missense_Mutation	SNP	C	C	T	rs61739434		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:56584505C>T	ENST00000323456.5	-	9	965	c.841G>A	c.(841-843)Gag>Aag	p.E281K	MTMR4_ENST00000579925.1_Missense_Mutation_p.E281K	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	281	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCACACGCCTCGCTGGTATCA	0.602000													16	38					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168834	42168834	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:42168834C>G	ENST00000444063.1	+	17	2079	c.1947C>G	c.(1945-1947)gcC>gcG	p.A649A	L3MBTL1_ENST00000373134.1_Silent_p.A654A|L3MBTL1_ENST00000418998.1_Silent_p.A717A|L3MBTL1_ENST00000373135.3_Silent_p.A649A|L3MBTL1_ENST00000427442.2_Silent_p.A717A			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	649					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TCATGTCAGCCCTGTCGGCCC	0.617000													15	28					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32974534	32974534	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:32974534G>C	ENST00000450833.2	-	4	879	c.608C>G	c.(607-609)gCc>gGc	p.A203G	HLA-DOA_ENST00000229829.5_3'UTR			P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	0	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CACTTAAAGGGCACTGAGCAC	0.502000													5	5					0	0	1	0	0
FAM83E	54854	broad.mit.edu	37	19	49107093	49107093	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:49107093G>C	ENST00000263266.3	-	4	1023	c.834C>G	c.(832-834)agC>agG	p.S278R		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	278										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGAACTCAAGGCTGAAGGCGT	0.682000													12	39					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371850	103371850	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:103371850G>A	ENST00000560371.1	+	11	1653	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRAF3_ENST00000392745.2_Missense_Mutation_p.R479H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R454H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R396H|TRAF3_ENST00000347662.4_Missense_Mutation_p.R454H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	479	MATH.				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.R479fs*12(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		GTCATCATGCGTGGAGAATAT	0.512000													21	9					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92258054	92258054	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:92258054C>G	ENST00000298047.6	+	2	3564	c.3547C>G	c.(3547-3549)Ctg>Gtg	p.L1183V	FAT3_ENST00000409404.2_Missense_Mutation_p.L1183V|FAT3_ENST00000525166.1_Missense_Mutation_p.L1033V|FAT3_ENST00000541502.1_Missense_Mutation_p.L1183V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1183	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			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)				CAATGAAAAACTGACATACAG	0.368000										TCGA Ovarian(4;0.039)			18	22					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204944532	204944532	+	Silent	SNP	C	C	G	rs143870626		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:204944532C>G	ENST00000367172.4	+	15	2020	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	NFASC_ENST00000401399.1_Silent_p.L564L|NFASC_ENST00000338586.6_Silent_p.L564L|NFASC_ENST00000539706.1_Silent_p.L575L|NFASC_ENST00000339876.6_Silent_p.L564L|NFASC_ENST00000404907.1_Silent_p.L575L|NFASC_ENST00000367170.4_Silent_p.L564L|NFASC_ENST00000404076.1_Silent_p.L558L|NFASC_ENST00000513543.1_Silent_p.L575L|NFASC_ENST00000367171.4_Silent_p.L564L|NFASC_ENST00000403080.1_Silent_p.L564L|NFASC_ENST00000338515.6_Silent_p.L564L|NFASC_ENST00000367169.4_Silent_p.L564L|NFASC_ENST00000360049.4_Silent_p.L575L			O94856	NFASC_HUMAN	neurofascin	564	Ig-like C2-type 6.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACGAGCCGCTCTATATTGGAA	0.552000											OREG0014142	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	61	8					0	0	1	0	0
MAOA	4128	broad.mit.edu	37	X	43552667	43552667	+	Translation_Start_Site	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:43552667T>A	ENST00000542639.1	+	0	448				MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000338702.3_Missense_Mutation_p.Y100N	NM_001270458.1	NP_001257387.1	P21397	AOFA_HUMAN	monoamine oxidase A						behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TCTCGTTCAATATGTCAAGGT	0.393000													25	44					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108690	140108690	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140108690G>C	ENST00000371521.4	+	6	630	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	NDOR1_ENST00000344894.5_Missense_Mutation_p.E183Q|NDOR1_ENST00000458322.2_Missense_Mutation_p.E183Q|NDOR1_ENST00000427047.2_Missense_Mutation_p.E149Q	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	183					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTTCCTCCAAGAGGCACCCAG	0.677000													20	15					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67695000	67695000	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67695000G>C	ENST00000458121.2	+	1	150	c.59G>C	c.(58-60)aGc>aCc	p.S20T	PARD6A_ENST00000219255.3_Missense_Mutation_p.S20T|PARD6A_ENST00000602551.1_Missense_Mutation_p.S20T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	20	Interaction with PRKCI and PRKCZ.|OPR.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GAGGTGAAGAGCAAAGTAAGG	0.706000													24	7					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91963078	91963078	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:91963078G>C	ENST00000375807.3	+	12	1758	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D495H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D490H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	563					translation	nucleus	mRNA 3'-UTR binding			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						TGACACACAAGATGGAGAGAG	0.413000													15	86					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792887	143792887	+	Silent	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:143792887T>C	ENST00000408949.2	+	1	747	c.687T>C	c.(685-687)tcT>tcC	p.S229S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GGATCCAGTCTGGGGAGGGCC	0.587000													57	186					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142177933	142177933	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:142177933T>G	ENST00000350721.4	-	44	7491	c.7370A>C	c.(7369-7371)tAc>tCc	p.Y2457S	ATR_ENST00000383101.3_Missense_Mutation_p.Y2393S	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2457	PI3K/PI4K.				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			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						GGAACGGCAGTAAGCTGATCT	0.353000								Other conserved DNA damage response genes					11	24					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876570	57876570	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:57876570G>A	ENST00000381227.1	+	12	1861	c.1448G>A	c.(1447-1449)cGt>cAt	p.R483H	POLR2B_ENST00000441246.2_Missense_Mutation_p.R476H|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000431623.2_Missense_Mutation_p.R408H|POLR2B_ENST00000314595.5_Missense_Mutation_p.R483H			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	483					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.R483L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TCTCACCTGCGTCGTTTAAAT	0.433000													25	102					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39990249	39990249	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:39990249G>A	ENST00000332312.3	-	4	2152	c.1960C>T	c.(1960-1962)Ctg>Ttg	p.L654L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	654						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				TCCCCACGCAGGTTCAGGACC	0.642000													9	22					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39884917	39884917	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:39884917G>T	ENST00000260356.5	+	17	2846	c.2681G>T	c.(2680-2682)tGt>tTt	p.C894F		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	894					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAGATGCCTGTGACCACGAT	0.522000													9	26					0.0692343	0.0701433	1	1	0
SUGP2	10147	broad.mit.edu	37	19	19136197	19136197	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:19136197A>G	ENST00000601879.1	-	3	1257	c.960T>C	c.(958-960)gaT>gaC	p.D320D	SUGP2_ENST00000600377.1_Silent_p.D334D|SUGP2_ENST00000337018.6_Silent_p.D320D|SUGP2_ENST00000452918.2_Silent_p.D320D|SUGP2_ENST00000456085.2_Silent_p.D89D			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	320					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CATCAGACTTATCTATGATGT	0.403000													27	96					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15512083	15512083	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:15512083T>A	ENST00000383785.2	-	11	802	c.677A>T	c.(676-678)cAc>cTc	p.H226L	COLQ_ENST00000383786.5_Missense_Mutation_p.H192L|COLQ_ENST00000435459.2_Missense_Mutation_p.H216L|COLQ_ENST00000383787.2_Missense_Mutation_p.H217L|COLQ_ENST00000383788.5_Missense_Mutation_p.H226L|COLQ_ENST00000603808.1_Missense_Mutation_p.H226L|COLQ_ENST00000383781.4_Missense_Mutation_p.H216L			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	226	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						GGGTCCTCGGTGTCCTGCTAT	0.547000													13	61					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683403	67683403	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67683403C>T	ENST00000334583.6	+	20	2128	c.1800C>T	c.(1798-1800)gtC>gtT	p.V600V	RLTPR_ENST00000545661.1_Silent_p.V564V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	600	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGCCAGCGTCCTACTCCGGG	0.627000													39	30					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47286372	47286372	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:47286372C>T	ENST00000335044.2	-	15	1780	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	KIF9_ENST00000452770.2_Missense_Mutation_p.E475K|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000265529.3_Missense_Mutation_p.E475K|KIF9_ENST00000444589.2_Missense_Mutation_p.E475K|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Missense_Mutation_p.E382K	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	475					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TTTTGTCCTTCAGGCTCACCC	0.527000													34	4					0	0	1	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196139	52196139	+	RNA	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:52196139G>T	ENST00000602324.1	-	0	570					NR_029482.1|NR_029693.1																						ACGGGACGGGGCCCGGCGGGG	0.667000													13	16					1.49906e-05	1.58101e-05	1	1	0
ACD	65057	broad.mit.edu	37	16	67693694	67693694	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67693694C>A	ENST00000219251.8	-	3	827	c.496G>T	c.(496-498)Gag>Tag	p.E166*	ACD_ENST00000393919.4_Nonsense_Mutation_p.E169*	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	169					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AACTCCTTCTCCTCCCTGCAA	0.692000													48	21					4.01344e-20	4.68066e-20	1	1	0
PTP4A2	8073	broad.mit.edu	37	1	32381534	32381534	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:32381534C>G	ENST00000344035.6	-	3	1144	c.151G>C	c.(151-153)Gat>Cat	p.D51H	PTP4A2_ENST00000356536.3_Missense_Mutation_p.D51H|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000602725.1_Missense_Mutation_p.D51H|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000470404.1_Missense_Mutation_p.D51H	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	51						early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				GGAGCTTTATCATATGTAGCA	0.284000													13	21					0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875784	42875784	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:42875784T>C	ENST00000431473.3	+	4	740	c.611T>C	c.(610-612)gTg>gCg	p.V204A		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	204	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGGGTGGTGGTGGTAGGGGGC	0.542000													26	41					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55571514	55571514	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:55571514T>A	ENST00000436346.1	-	11	2019	c.1178A>T	c.(1177-1179)gAt>gTt	p.D393V	CCDC88A_ENST00000413716.2_Missense_Mutation_p.D393V|AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D393V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D393V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	393					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATTTCCATATCATGAAGTTT	0.368000													24	73					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140093911	140093911	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140093911G>A	ENST00000409012.4	-	1	1339	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.S357L	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	418					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGGGGGCGGTGAGGACGGCCT	0.672000													10	1					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:20807460T>C	ENST00000601440.1	-	4	1369	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408000													4	172					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858068	149858068	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:149858068G>A	ENST00000369155.2	-	1	164	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	41					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCTTGTACACGTAGATGGAGT	0.572000													6	306					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142525039	142525039	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:142525039C>T	ENST00000273482.6	+	12	2633	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	TRPC1_ENST00000476941.1_Missense_Mutation_p.R782W	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	782					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ACTTGGCTTTCGGACTTCTAA	0.338000													11	41					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643941	49643941	+	Silent	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:49643941T>C	ENST00000262103.3	-	2	260	c.180A>G	c.(178-180)acA>acG	p.T60T	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	60							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCATTCCAAATGTCACATGCA	0.408000													21	40					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	rs121912655		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:7577556C>T	ENST00000420246.2	-	7	857	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_ENST00000455263.2_Missense_Mutation_p.C242Y|TP53_ENST00000413465.2_Missense_Mutation_p.C242Y|TP53_ENST00000269305.4_Missense_Mutation_p.C242Y|TP53_ENST00000445888.2_Missense_Mutation_p.C242Y|TP53_ENST00000359597.4_Missense_Mutation_p.C242Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C242F(82)|p.C242Y(44)|p.C242S(16)|p.0?(8)|p.C149F(6)|p.?(5)|p.N239_C242delNSSC(3)|p.C149Y(2)|p.C238fs*21(1)|p.C242fs*20(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCGCCCATGCAGGAACTGTT	0.577000		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)			23	4					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501816	90501816	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:90501816C>G	ENST00000325643.5	+	4	2480	c.2414C>G	c.(2413-2415)cCt>cGt	p.P805R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CACAGGAAACCTGGGAAGCTG	0.577000													64	24					0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097460	99097460	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:99097460C>T	ENST00000337673.6	-	1	460	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Missense_Mutation_p.R86Q|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	86	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAGAGTTCTCGGAGCCGGCT	0.637000													10	48					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64174580	64174580	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:64174580C>T	ENST00000409558.4	-	9	1300	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	VPS54_ENST00000272322.4_Silent_p.K394K|VPS54_ENST00000354504.3_Intron	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAAAATTAAGCTTTCTTTGTT	0.239000													21	64					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43886490	43886490	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:43886490G>T	ENST00000562955.1	+	10	1332	c.1332G>T	c.(1330-1332)atG>atT	p.M444I		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	444						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ATGTGGCTATGGCACCCTGGC	0.557000													27	44					4.87955e-14	5.48358e-14	1	1	0
CD3G	917	broad.mit.edu	37	11	118221394	118221394	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:118221394G>A	ENST00000532917.1	+	4	503	c.435G>A	c.(433-435)tcG>tcA	p.S145S	CD3G_ENST00000532903.1_3'UTR|CD3G_ENST00000392883.2_Intron	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	145					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TTCGCCAGTCGAGAGGTAAAA	0.488000													66	9					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280765	238280765	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:238280765C>G	ENST00000295550.4	-	9	4347	c.3895G>C	c.(3895-3897)Gtg>Ctg	p.V1299L	COL6A3_ENST00000392004.3_Missense_Mutation_p.V1093L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1093L|COL6A3_ENST00000392003.2_Missense_Mutation_p.V892L|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1099L|COL6A3_ENST00000472056.1_Missense_Mutation_p.V692L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1098L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1093L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1299	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			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)		AGCCGCTGCACCGCGTTCTGC	0.612000													7	19					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112071409	112071409	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:112071409A>C	ENST00000357685.5	+	7	1074	c.939A>C	c.(937-939)aaA>aaC	p.K313N	BCO2_ENST00000526088.1_Missense_Mutation_p.K279N|BCO2_ENST00000393032.2_Missense_Mutation_p.K279N|BCO2_ENST00000532593.1_Missense_Mutation_p.K208N|BCO2_ENST00000531169.1_Missense_Mutation_p.K279N|BCO2_ENST00000438022.1_Missense_Mutation_p.K279N|BCO2_ENST00000361053.4_Missense_Mutation_p.K240N			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	313					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCACTTCTAAAATTCGGGGAA	0.403000													50	74					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81714151	81714151	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:81714151C>T	ENST00000356860.3	-	7	930	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E198K|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E198K	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	198						voltage-gated calcium channel complex	metal ion binding	p.E198K(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGGTCTTCCTCGCGATTCTTT	0.383000													23	6					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50659642	50659642	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:50659642C>T	ENST00000439308.2	-	16	3638	c.3146G>A	c.(3145-3147)cGg>cAg	p.R1049Q	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.R1049Q|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1049	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGTGTTCCACCGTGGCCGGGT	0.647000													34	8					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826227	51826227	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr13:51826227C>G	ENST00000322475.8	+	3	859	c.724C>G	c.(724-726)Cga>Gga	p.R242G	FAM124A_ENST00000280057.6_Missense_Mutation_p.R278G	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	242										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GCTGGAGTTCCGAGTGAGGGA	0.602000													14	3					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52883387	52883387	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:52883387A>G	ENST00000343457.3	-	1	399	c.393T>C	c.(391-393)ccT>ccC	p.P131P		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	131						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAGGACTTAGGACTGAGTA	0.428000													30	67					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7094102	7094102	+	Silent	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:7094102G>T	ENST00000399510.2	-	22	3081	c.2229C>A	c.(2227-2229)atC>atA	p.I743I	DLG4_ENST00000302955.6_Silent_p.I697I|DLG4_ENST00000399506.2_Silent_p.I700I	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	700					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCTTGTGGTAGATCTCCTCAA	0.612000													18	32					1.45105e-14	1.63863e-14	1	1	0
APOA2	336	broad.mit.edu	37	1	161192829	161192829	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:161192829G>A	ENST00000464492.1	-	3	201	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	APOA2_ENST00000470459.2_Missense_Mutation_p.R22W|APOA2_ENST00000367990.3_Missense_Mutation_p.R22W|APOA2_ENST00000468465.1_Intron|APOA2_ENST00000463812.1_5'UTR|APOA2_ENST00000491350.1_Intron			P02652	APOA2_HUMAN	apolipoprotein A-II						cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCTGTCTCCGAACCAAAGCT	0.547000													12	129					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84581895	84581895	+	Silent	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:84581895G>T	ENST00000286744.5	+	16	1976	c.1752G>T	c.(1750-1752)gtG>gtT	p.V584V	ADAMTSL3_ENST00000567476.1_Silent_p.V584V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	584	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.V584V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCCGGGTGTGCAGGTCCGTG	0.577000													5	14					0.010729	0.0110145	1	1	0
CYP2S1	29785	broad.mit.edu	37	19	41711905	41711905	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:41711905C>T	ENST00000310054.4	+	8	1423	c.1207C>T	c.(1207-1209)Ccc>Tcc	p.P403S	CYP2S1_ENST00000542619.1_Missense_Mutation_p.P128S	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	403					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTGCATGACCCCAACATCTT	0.537000													10	44					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600336	42600336	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:42600336G>A	ENST00000389341.5	-	8	579	c.513C>T	c.(511-513)tgC>tgT	p.C171C	POU2F2_ENST00000529952.1_Silent_p.C187C|POU2F2_ENST00000342301.4_Silent_p.C187C|POU2F2_ENST00000529067.1_Silent_p.C171C|POU2F2_ENST00000533720.1_Silent_p.C171C|POU2F2_ENST00000560558.1_Silent_p.C132C|POU2F2_ENST00000526816.2_Silent_p.C187C|POU2F2_ENST00000560398.1_Silent_p.C193C	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	187					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GTGGCTCCAAGCATTTGGGGG	0.687000													4	11					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28387389	28387389	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:28387389C>G	ENST00000261609.7	-	76	11803	c.11695G>C	c.(11695-11697)Gat>Cat	p.D3899H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3899					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATACCTCATCAAGAAACAGA	0.453000													15	46					0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40807500	40807500	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:40807500C>T	ENST00000355630.3	-	15	3280	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	MKL1_ENST00000402042.1_Missense_Mutation_p.G847D|MKL1_ENST00000407029.1_Missense_Mutation_p.G897D|MKL1_ENST00000396617.3_3'UTR	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	897					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CAGCACGGGACCACCTGACGA	0.617000			T	RBM15	acute megakaryocytic leukemia								11	13					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60544833	60544833	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:60544833A>T	ENST00000373886.3	+	4	384	c.380A>T	c.(379-381)gAc>gTc	p.D127V		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	127					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCTGTCTTAGACACAAAAGTA	0.363000													28	43					0	0	1	0	0
TBL1X	6907	broad.mit.edu	37	X	9656165	9656165	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:9656165C>G	ENST00000217964.7	+	7	1106	c.466C>G	c.(466-468)Cag>Gag	p.Q156E	TBL1X_ENST00000536365.1_Missense_Mutation_p.Q105E|TBL1X_ENST00000407597.2_Missense_Mutation_p.Q156E|TBL1X_ENST00000424279.1_Missense_Mutation_p.Q105E|TBL1X_ENST00000380961.1_Missense_Mutation_p.Q105E	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	156					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				GAAGCTCGCTCAGCAGCAAGC	0.662000													8	1					0	0	1	0	0
PARD6A	50855	broad.mit.edu	37	16	67696371	67696371	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67696371G>A	ENST00000458121.2	+	3	950	c.859G>A	c.(859-861)Gag>Aag	p.E287K	PARD6A_ENST00000219255.3_Missense_Mutation_p.E288K|PARD6A_ENST00000602551.1_Missense_Mutation_p.E258K	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	288					cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCTGGTCATTGAGAACCGCCA	0.652000													28	15					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51520110	51520110	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:51520110A>G	ENST00000396402.1	-	4	470	c.317T>C	c.(316-318)aTa>aCa	p.I106T	RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.I106T|CYP19A1_ENST00000396404.4_Missense_Mutation_p.I106T|CYP19A1_ENST00000405913.3_Missense_Mutation_p.I106T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.I106T|CYP19A1_ENST00000557858.1_Missense_Mutation_p.I106T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	106					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTGCTTCATTATGTGGAACAT	0.433000													38	40					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834292	61834292	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:61834292G>A	ENST00000280772.2	-	37	6538	c.6347C>T	c.(6346-6348)tCt>tTt	p.S2116F	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCGTGTTGAGAAAAGTCATC	0.438000													25	38					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30486305	30486305	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:30486305C>G	ENST00000375938.4	+	4	396	c.143C>G	c.(142-144)aCc>aGc	p.T48S	TTLL9_ENST00000535842.1_Missense_Mutation_p.T48S|TTLL9_ENST00000310998.4_5'UTR|TTLL9_ENST00000375934.4_Missense_Mutation_p.T30S|TTLL9_ENST00000375921.2_5'UTR|TTLL9_ENST00000375922.4_5'UTR			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	48	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGTTCAAGACCACCCTCATG	0.527000													7	27					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933493	150933493	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:150933493G>A	ENST00000271640.5	+	16	3145	c.2955G>A	c.(2953-2955)ttG>ttA	p.L985L	SETDB1_ENST00000368969.4_Silent_p.L985L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	985	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCATGGTTGAGCTGCAATA	0.537000													35	142					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680753	73680753	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:73680753G>C	ENST00000264448.6	+	8	7207	c.7096G>C	c.(7096-7098)Gag>Cag	p.E2366Q	ALMS1_ENST00000377715.1_Missense_Mutation_p.E2366Q|ALMS1_ENST00000409009.1_Missense_Mutation_p.E2324Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2366					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGGAAGCAGAGAGCAAAGT	0.423000													25	41					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69998243	69998243	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:69998243A>T	ENST00000352241.4	+	6	967	c.804A>T	c.(802-804)caA>caT	p.Q268H	MITF_ENST00000531774.1_Missense_Mutation_p.Q105H|MITF_ENST00000394355.2_Missense_Mutation_p.Q243H|MITF_ENST00000448226.2_Missense_Mutation_p.Q268H|MITF_ENST00000328528.6_Missense_Mutation_p.Q267H|MITF_ENST00000314589.5_Missense_Mutation_p.Q252H|MITF_ENST00000314557.6_Missense_Mutation_p.Q161H|MITF_ENST00000472437.1_Missense_Mutation_p.Q216H|MITF_ENST00000394351.3_Missense_Mutation_p.Q161H	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	268	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGGAAACCAAGGTCTGCCCC	0.453000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						44	40					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295470	133295470	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:133295470C>T	ENST00000231512.3	-	2	583	c.381G>A	c.(379-381)gaG>gaA	p.E127E	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	127						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGAGAAGATCCTCCTCCTCTA	0.507000													19	45					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41219632	41219632	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:41219632C>T	ENST00000309486.4	-	15	5206	c.4179G>A	c.(4177-4179)atG>atA	p.M1393I	BRCA1_ENST00000491747.2_Missense_Mutation_p.M585I|BRCA1_ENST00000468300.1_Missense_Mutation_p.M585I|BRCA1_ENST00000357654.3_Missense_Mutation_p.M1689I|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.M506I|BRCA1_ENST00000493795.1_Missense_Mutation_p.M1642I|BRCA1_ENST00000591534.1_Missense_Mutation_p.M180I|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.M1710I|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.M547I	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1689					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			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)		TACCTGTTTTCATAACAACAT	0.398000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			23	0					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2818910	2818910	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:2818910C>T	ENST00000360652.2	-	6	1311	c.809G>A	c.(808-810)gGc>gAc	p.G270D	PCED1A_ENST00000356872.3_Missense_Mutation_p.G219D	NM_022760.4	NP_073597.2			PC-esterase domain containing 1A																		CAGCTCCACGCCCCAGGCGTC	0.627000													27	34					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55033379	55033379	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:55033379G>A	ENST00000374987.3	+	6	1134	c.1068G>A	c.(1066-1068)acG>acA	p.T356T		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	356					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.T356T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCAGTCGACGCTGCAGCACA	0.567000								Other BER factors					14	18					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168465622	168465622	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:168465622C>T	ENST00000283309.6	-	5	641	c.577G>A	c.(577-579)Gac>Aac	p.D193N	FRMD1_ENST00000537786.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.D125N|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	193	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCGCCCAGGTCAGCCTGCAGC	0.652000													4	3					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35043079	35043079	+	Silent	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:35043079G>T	ENST00000312292.5	+	2	500	c.453G>T	c.(451-453)ggG>ggT	p.G151G	C9orf131_ENST00000354479.5_Silent_p.G78G|C9orf131_ENST00000421362.2_Silent_p.G103G	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	151										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGCTATAGGGATACCAGAGC	0.557000													52	45					8.44121e-28	9.9956e-28	1	1	0
TEX14	56155	broad.mit.edu	37	17	56646588	56646588	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:56646588A>G	ENST00000389934.3	-	27	4088	c.3971T>C	c.(3970-3972)cTg>cCg	p.L1324P	TEX14_ENST00000240361.8_Missense_Mutation_p.L1330P|TEX14_ENST00000349033.5_Missense_Mutation_p.L1284P	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1330						cytoplasm	ATP binding|protein kinase activity			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)					TGGTGGTGGCAGCTCATCAAT	0.408000													11	67					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90052388	90052388	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:90052388G>C	ENST00000405460.2	+	56	11794	c.11698G>C	c.(11698-11700)Gag>Cag	p.E3900Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3900					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAAATAGCTGAGATAATGAT	0.423000													11	10					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49225951	49225951	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:49225951G>C	ENST00000308025.3	-	15	2053	c.1974C>G	c.(1972-1974)atC>atG	p.I658M		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	658	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTGCTCCAAGATTGCCAGCA	0.483000													46	8					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093053	160093053	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:160093053C>G	ENST00000361216.3	+	4	317	c.228C>G	c.(226-228)aaC>aaG	p.N76K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N76K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	76					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATGGGCCCAACGCCCTCACAC	0.637000													38	213					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18364028	18364028	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:18364028C>T	ENST00000429452.1	-	17	2635	c.2283G>A	c.(2281-2283)gtG>gtA	p.V761V	MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000585038.1_Silent_p.V761V	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1248						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACAGGGTGATCACTTTTTTGG	0.537000													58	72					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97256296	97256296	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:97256296C>A	ENST00000523821.1	-	7	1029	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	MTERFD1_ENST00000287025.3_Nonsense_Mutation_p.E304*|MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.E183*|MTERFD1_ENST00000524341.1_Intron			Q96E29	MTER1_HUMAN	MTERF domain containing 1	304					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAACCAAGTTCAAGACGATAA	0.303000													6	20					0.0215528	0.02198	1	1	0
WWTR1	25937	broad.mit.edu	37	3	149290682	149290682	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:149290682C>G	ENST00000465804.1	-	4	793	c.537G>C	c.(535-537)caG>caC	p.Q179H	WWTR1_ENST00000360632.3_Missense_Mutation_p.Q179H|WWTR1_ENST00000467467.1_Missense_Mutation_p.Q179H	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	179					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CCATGGACCTCTGAGGCACTG	0.438000			T	CAMTA1	epitheliod hemangioendothelioma								78	33					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73929920	73929920	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:73929920C>G	ENST00000476977.1	+	4	2106	c.415C>G	c.(415-417)Ctt>Gtt	p.L139V	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L139V|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L171V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L139V			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	139						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTTGATGTTCTTTATAGTAA	0.612000													32	2					0	0	1	0	0
IFNA21	3452	broad.mit.edu	37	9	21166381	21166381	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:21166381G>C	ENST00000380225.1	-	1	278	c.231C>G	c.(229-231)atC>atG	p.I77M		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	77					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGAGGACAGAGATGGCTTGAG	0.488000													78	14					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109807898	109807898	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:109807898G>T	ENST00000271332.3	+	13	5753	c.5692G>T	c.(5692-5694)Gac>Tac	p.D1898Y		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1898	EGF-like 7; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTTTGACCCAGACTGCAACAA	0.602000													4	13					5.9392e-07	6.33606e-07	1	1	0
CCIN	881	broad.mit.edu	37	9	36170285	36170285	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:36170285G>A	ENST00000335119.2	+	1	897	c.786G>A	c.(784-786)caG>caA	p.Q262Q		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	262					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACCGCAAGCAGGAGCGGCCAT	0.582000													12	23					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92953091	92953091	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:92953091G>C	ENST00000532405.1	+	14	1730	c.1504G>C	c.(1504-1506)Gac>Cac	p.D502H	SLC24A4_ENST00000351924.5_Missense_Mutation_p.D466H|SLC24A4_ENST00000393265.2_Missense_Mutation_p.D438H|SLC24A4_ENST00000531433.1_Missense_Mutation_p.D483H|SLC24A4_ENST00000298877.1_Missense_Mutation_p.D485H			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	502						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AAGTGTTCCAGACTGCATGGC	0.542000													6	2					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127715130	127715130	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:127715130C>T	ENST00000336505.6	-	18	1835	c.1777G>A	c.(1777-1779)Gat>Aat	p.D593N	SCAI_ENST00000373549.4_Missense_Mutation_p.D616N	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTTCGAACATCCAGAATGGAT	0.368000													32	2					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165947256	165947256	+	Missense_Mutation	SNP	C	C	T	rs3731762	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:165947256C>T	ENST00000360093.3	-	28	5898	c.5407G>A	c.(5407-5409)Gat>Aat	p.D1803N	SCN3A_ENST00000283254.7_Missense_Mutation_p.D1803N|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1754N|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.D286N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1803			D -> N (in dbSNP:rs3731762).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D1803N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGGGTCGCATCGGGATCAAAC	0.458000													32	94					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014299	70014299	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:70014299G>A	ENST00000352241.4	+	10	1626	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	MITF_ENST00000531774.1_Missense_Mutation_p.G325D|MITF_ENST00000394355.2_Missense_Mutation_p.G463D|MITF_ENST00000448226.2_Missense_Mutation_p.G494D|MITF_ENST00000328528.6_Missense_Mutation_p.G487D|MITF_ENST00000314589.5_Missense_Mutation_p.G472D|MITF_ENST00000314557.6_Missense_Mutation_p.G381D|MITF_ENST00000472437.1_Missense_Mutation_p.G436D|MITF_ENST00000394351.3_Missense_Mutation_p.G387D	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	494					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TCTCCCGTCGGTGTCACTGAT	0.542000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						34	27					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86087181	86087181	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:86087181A>G	ENST00000394518.2	+	5	752	c.657A>G	c.(655-657)ctA>ctG	p.L219L	AKAP13_ENST00000361243.2_Silent_p.L219L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	219					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ACCAGCTTCTAACCGAGTAAG	0.572000													19	17					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965542	22965542	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:22965542G>C	ENST00000374642.3	+	3	584	c.380G>C	c.(379-381)gGg>gCg	p.G127A	C1QA_ENST00000402322.1_Missense_Mutation_p.G127A	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	127	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	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)	CCCCCAATGGGGGGCAACGTG	0.602000													8	15					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185369897	185369897	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:185369897C>T	ENST00000382199.2	-	13	1541	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	IGF2BP2_ENST00000346192.3_Silent_p.P439P|IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.P488P|IGF2BP2_ENST00000421047.2_Silent_p.P425P	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	482	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ACTGGGCTTCCGGTGGCCCGG	0.592000													6	27					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686434	67686434	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67686434C>A	ENST00000334583.6	+	28	3205	c.2877C>A	c.(2875-2877)ttC>ttA	p.F959L	RLTPR_ENST00000545661.1_Missense_Mutation_p.F923L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	959	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGTCCCCTTCATTCACAGTA	0.587000													18	12					1.1804e-14	1.33624e-14	1	1	0
PARD6A	50855	broad.mit.edu	37	16	67696119	67696119	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67696119G>A	ENST00000458121.2	+	3	698	c.607G>A	c.(607-609)Gag>Aag	p.E203K	PARD6A_ENST00000219255.3_Missense_Mutation_p.E204K|PARD6A_ENST00000602551.1_Missense_Mutation_p.E174K	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	204	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGGTCTGGCTGAGAGTACAGG	0.592000													39	30					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													5	10					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24483750	24483750	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:24483750C>T	ENST00000327535.1	-	7	1445	c.1433G>A	c.(1432-1434)aGc>aAc	p.S478N	IFNLR1_ENST00000374421.3_Missense_Mutation_p.S449N|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CTCAGGGCTGCTTTCCCAGCA	0.637000													12	45					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48035567	48035567	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:48035567C>G	ENST00000403359.3	-	22	2628		c.e22-1		MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Splice_Site|FBXO11_ENST00000402508.1_Splice_Site|FBXO11_ENST00000434523.2_Splice_Site|FBXO11_ENST00000405808.1_Splice_Site	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11						ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTATGACATCTAAAAAGCAA	0.343000			"""Mis, F, D"""		DLBCL								16	105					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899129	175899129	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:175899129C>T	ENST00000359240.3	+	5	3123	c.2453C>T	c.(2452-2454)aCg>aTg	p.T818M	ADAM29_ENST00000445694.1_Missense_Mutation_p.T818M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T818M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T818M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	818	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCCTCCTAG	0.587000													37	19					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394374	64394374	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:64394374C>A	ENST00000262043.3	+	4	1091	c.751C>A	c.(751-753)Cat>Aat	p.H251N	PHF3_ENST00000393387.1_Missense_Mutation_p.H251N|PHF3_ENST00000509330.1_Missense_Mutation_p.H251N			Q92576	PHF3_HUMAN	PHD finger protein 3	251					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGTGCCATCTCATGAATTAAA	0.358000													28	38					1.5548e-18	1.78628e-18	1	1	0
NDOR1	27158	broad.mit.edu	37	9	140110578	140110578	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140110578G>A	ENST00000371521.4	+	13	1697	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	NDOR1_ENST00000344894.5_Silent_p.R529R|NDOR1_ENST00000458322.2_Silent_p.R522R|NDOR1_ENST00000427047.2_Silent_p.R495R	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	529					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACCGGCTCCGGGAGCTGGGGT	0.662000													39	18					0	0	1	0	0
IRAK1	3654	broad.mit.edu	37	X	153285224	153285224	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:153285224C>A	ENST00000369980.3	-	1	207	c.40G>T	c.(40-42)Ggc>Tgc	p.G14C	IRAK1_ENST00000369974.2_Missense_Mutation_p.G14C|IRAK1_ENST00000429936.2_Missense_Mutation_p.G14C|IRAK1_ENST00000393687.2_Missense_Mutation_p.G14C|IRAK1_ENST00000393682.1_Missense_Mutation_p.G14C	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	14					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTgggcgccgggggctgcg	0.771000													4	9					0.184627	0.185428	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144879129	144879129	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:144879129G>C	ENST00000369359.4	-	30	4767	c.4729C>G	c.(4729-4731)Ctc>Gtc	p.L1577V	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L1397V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L1441V|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L1577V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L1441V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1441	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTGGATGAGACTCTCCAGG	0.557000			T	PDGFRB	MPD								18	159					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770514	31770514	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:31770514G>T	ENST00000240587.4	-	2	512	c.185C>A	c.(184-186)tCc>tAc	p.S62Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	62					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGCGGCCGGGGAGTTCTGGTA	0.587000													6	16					0.0215528	0.02198	1	1	0
PLS3	5358	broad.mit.edu	37	X	114856614	114856614	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:114856614G>C	ENST00000420625.2	+	3	264	c.130G>C	c.(130-132)Gct>Cct	p.A44P	PLS3_ENST00000539310.1_5'UTR|PLS3_ENST00000355899.3_Missense_Mutation_p.A44P|PLS3_ENST00000537301.1_Missense_Mutation_p.A22P|PLS3_ENST00000289290.3_5'UTR	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	44	EF-hand 1.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						CTTCAAGGAAGCTAATATGCC	0.343000													70	52					0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675953	29675953	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:29675953G>A	ENST00000360121.3	+	2	996	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	SPN_ENST00000395389.2_Missense_Mutation_p.A302T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	302					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GGTGGTGGACGCCTGGGCTGG	0.726000													3	10					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137342773	137342773	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:137342773C>T	ENST00000033079.3	-	7	1205	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	FAM13B_ENST00000420893.2_Missense_Mutation_p.E252K|FAM13B_ENST00000425075.2_Missense_Mutation_p.E134K	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	252	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GCACCCTCTTCTGGAAGTTCT	0.338000													18	61					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23111405	23111405	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:23111405G>C	ENST00000400191.3	+	3	665	c.647G>C	c.(646-648)aGc>aCc	p.S216T	EPHB2_ENST00000544305.1_Missense_Mutation_p.S216T|EPHB2_ENST00000374627.1_Missense_Mutation_p.S210T|EPHB2_ENST00000374632.3_Missense_Mutation_p.S216T|EPHB2_ENST00000374630.3_Missense_Mutation_p.S216T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	216	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			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)		GGGGCTGAGAGCACATCGCTG	0.627000													11	39					0	0	1	0	0
BIRC7	79444	broad.mit.edu	37	20	61867569	61867569	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:61867569G>A	ENST00000217169.3	+	1	335	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	BIRC7_ENST00000342412.6_Missense_Mutation_p.G41S	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	41					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CCCTGTCCTAGGCCTGGACAC	0.701000													8	12					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68257479	68257479	+	Silent	SNP	C	C	T	rs145738942		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:68257479C>T	ENST00000347230.4	-	15	2703	c.2565G>A	c.(2563-2565)acG>acA	p.T855T	ZFYVE26_ENST00000555452.1_Silent_p.T855T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	855					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCAGGTTGAACGTGAACAGCA	0.507000													51	12					0	0	1	0	0
USF1	7391	broad.mit.edu	37	1	161010620	161010620	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:161010620C>A	ENST00000368021.3	-	8	807	c.603G>T	c.(601-603)agG>agT	p.R201S	USF1_ENST00000368020.1_Missense_Mutation_p.R201S|USF1_ENST00000368019.1_Missense_Mutation_p.R173S|USF1_ENST00000435396.1_Missense_Mutation_p.R142S	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	201					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TATGCTGAGCCCTGCGTTTCT	0.498000													14	148					2.32078e-09	2.55231e-09	1	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47210524	47210524	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:47210524G>A	ENST00000300404.2	+	1	196	c.137G>A	c.(136-138)aGa>aAa	p.R46K	B4GALNT2_ENST00000504681.1_Intron|B4GALNT2_ENST00000393354.2_Intron	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	46					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTGGAACTCAGAGGCGCTGAC	0.701000													3	2					0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137590460	137590460	+	Missense_Mutation	SNP	C	C	G	rs143322667	byFrequency	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:137590460C>G	ENST00000330387.6	-	6	1254	c.903G>C	c.(901-903)aaG>aaC	p.K301N	CREB3L2_ENST00000456390.1_Missense_Mutation_p.K301N	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	301					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TATTCTTGATCTTCCTCCGAA	0.522000			T	FUS	fibromyxoid sarcoma								47	166					0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838803	19838803	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:19838803C>T	ENST00000405640.1	-	2	1650	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.E328K|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.E328K			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	328										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ACCTCCTCCTCTGTTTTCTGG	0.607000													11	7					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065414	73065414	+	RNA	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:73065414C>T	ENST00000429829.1	-	0	7174					NR_001564.2																						TAATCACACACATAACAGGCC	0.493000													20	2					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3174751	3174751	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:3174751C>A	ENST00000355072.5	+	31	4204	c.4059C>A	c.(4057-4059)ggC>ggA	p.G1353G		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1353					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGAGGCCAGGCTTGTACCACT	0.597000													22	24					1.36565e-18	1.57679e-18	1	1	0
OASL	8638	broad.mit.edu	37	12	121476643	121476643	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:121476643C>G	ENST00000257570.5	-	1	402	c.132G>C	c.(130-132)ctG>ctC	p.L44L	OASL_ENST00000339275.5_Silent_p.L44L	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	44					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTCCTGCCTCAGAAACTCCT	0.632000													16	14					0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896548	35896548	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:35896548T>C	ENST00000321660.1	+	2	265	c.107T>C	c.(106-108)gTg>gCg	p.V36A	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	36					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CGGATGCTGGTGATTGTCTTG	0.587000													10	17					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119934748	119934748	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:119934748G>C	ENST00000361035.4	+	7	1109	c.826G>C	c.(826-828)Gaa>Caa	p.E276Q	HAO2_ENST00000325945.3_Missense_Mutation_p.E263Q			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	263	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			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)		TGCTTTGACAGAAGTGGTGGC	0.493000													21	21					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802307	185802307	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:185802307A>G	ENST00000302277.6	+	4	2778	c.2184A>G	c.(2182-2184)aaA>aaG	p.K728K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	728						intracellular	zinc ion binding			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						GGAAAACCAAAATGTCAAGCT	0.328000													22	57					0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50017194	50017194	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:50017194G>A	ENST00000221466.5	+	3	615	c.129G>A	c.(127-129)ggG>ggA	p.G43G	FCGRT_ENST00000596975.1_Silent_p.G43G|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000426395.3_Silent_p.G43G|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	43	Alpha-1.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		CTGCCCCGGGGACTCCTGCCT	0.662000													19	85					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67694366	67694366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67694366G>A	ENST00000219251.8	-	1	347	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	ACD_ENST00000393919.4_Nonsense_Mutation_p.Q6*	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	6					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GCGTCACTCTGACAGCGGCCA	0.662000													19	10					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397164	5397164	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr18:5397164C>A	ENST00000341928.2	-	18	3074	c.2734G>T	c.(2734-2736)Gct>Tct	p.A912S	EPB41L3_ENST00000427684.2_Missense_Mutation_p.A209S|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A912S|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A690S|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A217S|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A690S|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A743S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	912	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCAGGACAGCTTTAGCGACC	0.552000													30	86					7.26314e-15	8.24224e-15	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17394609	17394609	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:17394609G>A	ENST00000380647.3	+	15	2241	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	CNTLN_ENST00000262360.5_Missense_Mutation_p.M719I|CNTLN_ENST00000425824.1_Missense_Mutation_p.M719I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	719						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAAAATTAATGAAAGAAAATG	0.323000													11	1					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603733	140603733	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:140603733C>A	ENST00000239449.4	+	1	656	c.656C>A	c.(655-657)tCc>tAc	p.S219Y	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S66Y	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		219	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GATGGTGGATCCCCGCCCAAG	0.473000													22	16					1.28384e-07	1.37916e-07	1	1	0
HLTF	6596	broad.mit.edu	37	3	148777540	148777540	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:148777540G>A	ENST00000310053.5	-	13	1533	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	HLTF_ENST00000494055.1_Missense_Mutation_p.S447F|HLTF_ENST00000392912.2_Missense_Mutation_p.S447F|HLTF_ENST00000465259.1_Missense_Mutation_p.S446F	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	447	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TGTAGGAACAGATGAAGTTAA	0.274000													20	69					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145563083	145563083	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:145563083G>A	ENST00000355594.4	+	10	2858	c.2771G>A	c.(2770-2772)cGa>cAa	p.R924Q		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	924										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGGCTTGCCGAGACAAGGAA	0.552000													35	5					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23399811	23399811	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:23399811G>C	ENST00000400181.4	+	15	1753	c.1649G>C	c.(1648-1650)aGa>aCa	p.R550T	KDM1A_ENST00000542151.1_Missense_Mutation_p.R550T|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.R526T	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	526	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCAAGAGACAGACAAATACTT	0.383000													112	20					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97328285	97328285	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:97328285T>C	ENST00000328504.3	+	3	523	c.256T>C	c.(256-258)Tcc>Ccc	p.S86P	SPATA8_ENST00000558553.1_Missense_Mutation_p.F45S	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	86								p.S86T(1)		large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GCCATCTGCTTCCCCACTGAT	0.453000													28	33					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071916	17071916	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:17071916C>T	ENST00000359963.3	-	1	1784	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	509					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGCACCACCTCAGCCACTGCT	0.493000													67	81					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22389495	22389495	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:22389495T>A	ENST00000334304.5	-	19	4068	c.3799A>T	c.(3799-3801)Agg>Tgg	p.R1267W	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1267					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GCTGGCTTCCTTAACGCATCT	0.448000													33	28					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45153126	45153126	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:45153126G>C	ENST00000425690.3	+	3	772	c.473G>C	c.(472-474)gGa>gCa	p.G158A	PVR_ENST00000403059.4_Missense_Mutation_p.G158A|PVR_ENST00000344956.4_Missense_Mutation_p.G158A|PVR_ENST00000406449.4_Missense_Mutation_p.G158A|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	158	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CAGCTCACTGGAGAGCCAGTG	0.607000													74	58					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434205	121434205	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:121434205G>C	ENST00000257555.6	+	5	1322	c.1096G>C	c.(1096-1098)Gaa>Caa	p.E366Q	HNF1A_ENST00000543427.1_Missense_Mutation_p.E249Q|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Missense_Mutation_p.E366Q|HNF1A_ENST00000402929.1_Missense_Mutation_p.E366Q|HNF1A_ENST00000400024.2_Missense_Mutation_p.E366Q|HNF1A_ENST00000541395.1_Missense_Mutation_p.E366Q			P20823	HNF1A_HUMAN	HNF1 homeobox A	366					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTGAGTACAGAAGCCAAGCT	0.592000									Hepatic Adenoma, Familial Clustering of				71	34					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41215352	41215352	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:41215352C>A	ENST00000309486.4	-	17	5330	c.4303G>T	c.(4303-4305)Gag>Tag	p.E1435*	BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E627*|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E627*|BRCA1_ENST00000357654.3_Nonsense_Mutation_p.E1731*|BRCA1_ENST00000586385.1_Nonsense_Mutation_p.E41*|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E548*|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E1684*|BRCA1_ENST00000591534.1_Nonsense_Mutation_p.E222*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E1492*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E1752*|BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E1466*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E589*	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1731					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			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)		GTACTTACCTCATTCAGCATT	0.363000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			13	3					9.05144e-12	1.00984e-11	1	1	0
USP34	9736	broad.mit.edu	37	2	61622079	61622079	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:61622079C>A	ENST00000398571.2	-	5	738	c.662G>T	c.(661-663)gGc>gTc	p.G221V		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	221					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			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)			GAGAGAAAGGCCATTTTTCCC	0.338000													13	31					0.0202918	0.0207856	1	1	0
KCNQ3	3786	broad.mit.edu	37	8	133192547	133192547	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:133192547C>T	ENST00000388996.4	-	4	1054	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	KCNQ3_ENST00000521134.1_Missense_Mutation_p.V92M|KCNQ3_ENST00000519445.1_Missense_Mutation_p.V212M	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	212					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ACAGCAACCACTGGCACAGAG	0.577000													15	46					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135111462	135111462	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:135111462G>T	ENST00000368563.2	-	5	966	c.610C>A	c.(610-612)Ccg>Acg	p.P204T	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.P204T|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.P204T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.P74T	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	204					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		GTACCTATCGGCAAAGCGGTG	0.542000													18	15					1.02788e-11	1.14401e-11	1	1	0
MTPAP	55149	broad.mit.edu	37	10	30658089	30658089	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:30658089C>T	ENST00000488290.1	-	4	325		c.e4-1					Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGACAGGGCCCTGGAGAGAGG	0.592000													21	7					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10584169	10584169	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:10584169C>T	ENST00000304501.1	-	2	324	c.246G>A	c.(244-246)tcG>tcA	p.S82S	SOX7_ENST00000553390.1_Silent_p.S134S|SOX7_ENST00000554914.1_Silent_p.S134S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	82					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S82S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCGCCTTCCACGACTTTCCTG	0.632000													12	3					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64639796	64639796	+	RNA	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:64639796C>T	ENST00000587624.1	+	0	679																											CGTCTGCAGTCCATACATACC	0.448000													10	93					0	0	1	0	0
ITPKA	3706	broad.mit.edu	37	15	41794269	41794269	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:41794269T>C	ENST00000260386.5	+	4	931	c.878T>C	c.(877-879)cTg>cCg	p.L293P		NM_002220.2	NP_002211.1	P23677	IP3KA_HUMAN	inositol-trisphosphate 3-kinase A	293	Calmodulin-binding (By similarity).				signal transduction		ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			kidney(1)|lung(3)|skin(1)	5		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AAGAAAATGCTGGCGGTGGAT	0.657000													8	25					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140080789	140080789	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140080789C>T	ENST00000323927.2	-	3	764	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	254					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTGACCCGCTCCAGCAGACTG	0.677000													8	5					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25819815	25819815	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:25819815C>A	ENST00000399878.3	-	9	1631	c.1509G>T	c.(1507-1509)ctG>ctT	p.L503L	SEL1L3_ENST00000264868.5_Silent_p.L468L|SEL1L3_ENST00000502949.1_Silent_p.L350L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	503						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTTTGTCTTTCAGCTCCTTCT	0.562000													12	1					7.03913e-09	7.66851e-09	1	1	0
TRMT10C	54931	broad.mit.edu	37	3	101283784	101283784	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:101283784G>C	ENST00000309922.6	+	2	313	c.159G>C	c.(157-159)gaG>gaC	p.E53D		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		CTAAAAATGAGAGTACACCCC	0.373000													33	87					0	0	1	0	0
SDAD1P1	157489	broad.mit.edu	37	8	26237967	26237967	+	RNA	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:26237967A>G	ENST00000519902.1	-	0	1981																											ATAGAAATTGAAGAGGAAGAG	0.433000													3	15					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80847546	80847546	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:80847546C>T	ENST00000355528.4	+	16	1666	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	TBCD_ENST00000397466.2_Silent_p.A126A|TBCD_ENST00000539345.2_Silent_p.A512A	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	512					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	p.A512A(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTCCGCAGGCCGCCTTCCAGG	0.502000													7	45					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78226435	78226435	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:78226435A>T	ENST00000361193.3	+	18	2021	c.1741A>T	c.(1741-1743)Agg>Tgg	p.R581W	SLC26A11_ENST00000572725.1_Missense_Mutation_p.R581W|SLC26A11_ENST00000411502.3_Missense_Mutation_p.R581W|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R581W	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	581	STAS.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAAGCACCTGAGGCAGGAGCC	0.517000													10	126					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27062257	27062257	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:27062257G>A	ENST00000268766.6	+	4	520		c.e4-1		NEK8_ENST00000593261.1_Splice_Site|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8							cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTATCCTGCAGGTGGTGGGTA	0.577000													5	12					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475655	75475655	+	RNA	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:75475655C>T	ENST00000459803.1	-	0	874					NR_024241.1																						GTAAAGGCCACGTAGACCTCA	0.647000													4	53					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813864	100813864	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:100813864G>C	ENST00000323346.5	+	12	2010	c.1697G>C	c.(1696-1698)aGa>aCa	p.R566T	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.R516T	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	566					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAAGGACAGAGAGGAGCGACC	0.458000													18	3					0	0	1	0	0
MVD	4597	broad.mit.edu	37	16	88725111	88725111	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:88725111C>T	ENST00000301012.3	-	2	117	c.88G>A	c.(88-90)Gag>Aag	p.E30K	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	30					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGAACCAGCTCTTCATCGCGC	0.622000													13	9					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187497	140187497	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:140187497T>G	ENST00000530339.1	+	1	725	c.725T>G	c.(724-726)tTt>tGt	p.F242C	PCDHA4_ENST00000512229.2_Missense_Mutation_p.F242C|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.F242C	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCCAGCTTTTGACAGAACC	0.423000													27	33					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978797	63978797	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:63978797G>A	ENST00000279227.5	+	5	660	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	FERMT3_ENST00000345728.5_Missense_Mutation_p.A189T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	189					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CTCGGACAGCGCCCAGACTGA	0.682000													14	4					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409260	105409260	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:105409260G>C	ENST00000333244.5	-	7	12647	c.12528C>G	c.(12526-12528)ctC>ctG	p.L4176L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4176						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTGGTCTTGAGGTCCCCCT	0.657000													5	115					0	0	1	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991632	39991632	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:39991632G>A	ENST00000332312.3	-	4	769	c.577C>T	c.(577-579)Ctg>Ttg	p.L193L		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	193						proteinaceous extracellular matrix		p.L193M(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTTTGAGCCAGGCGCTGGACA	0.627000													10	21					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933602	150933602	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:150933602G>A	ENST00000271640.5	+	16	3254	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K	SETDB1_ENST00000368969.4_Missense_Mutation_p.E1022K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1022	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AATGGAGGCTGAGAAGGCCTC	0.532000													22	75					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142570192	142570192	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:142570192G>A	ENST00000359396.3	-	14	2073	c.1828C>T	c.(1828-1830)Cgc>Tgc	p.R610C		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	610					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CACAGGCAGCGAGGCAGCTTC	0.627000													6	14					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43735236	43735236	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:43735236C>A	ENST00000360835.4	-	2	220	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F	SCUBE1_ENST00000290460.7_Missense_Mutation_p.V32F	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TCCACGTCGACTGACCCTGTG	0.597000													13	15					4.3838e-07	4.68753e-07	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131277440	131277440	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:131277440C>T	ENST00000337057.3	-	2	367	c.186G>A	c.(184-186)caG>caA	p.Q62Q	EPB41L2_ENST00000368128.2_Silent_p.Q62Q|EPB41L2_ENST00000527659.1_Silent_p.Q62Q|EPB41L2_ENST00000528282.1_Silent_p.Q62Q|EPB41L2_ENST00000445890.2_Silent_p.Q62Q|EPB41L2_ENST00000392427.3_Silent_p.Q62Q|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_Silent_p.Q62Q|EPB41L2_ENST00000525193.1_Silent_p.Q62Q|EPB41L2_ENST00000525271.1_Silent_p.Q62Q|EPB41L2_ENST00000529208.1_Silent_p.Q62Q|EPB41L2_ENST00000530481.1_Silent_p.Q62Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	62					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			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)		TCTCTCTCTTCTGGCGGCGTA	0.483000													33	41					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59001863	59001863	+	Splice_Site	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:59001863T>A	ENST00000589222.1	+	13	1155		c.e13+2		BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			ATACAAGTGGTAAGTTCGCTC	0.403000													16	145					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157470083	157470083	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:157470083C>T	ENST00000346085.5	+	9	2878	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	ARID1B_ENST00000275248.4_Silent_p.S888S|ARID1B_ENST00000367148.1_Silent_p.S946S|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000350026.5_Silent_p.S946S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	946					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)		CAGCACAAAGCAGGTACGCCA	0.627000													4	5					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686420	67686420	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67686420C>A	ENST00000334583.6	+	28	3191	c.2863C>A	c.(2863-2865)Cac>Aac	p.H955N	RLTPR_ENST00000545661.1_Missense_Mutation_p.H919N	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	955	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCACGGTCTTCACCTGGTCCC	0.587000													17	15					5.45024e-15	6.21542e-15	1	1	0
IFNLR1	163702	broad.mit.edu	37	1	24483749	24483749	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:24483749G>A	ENST00000327535.1	-	7	1446	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	IFNLR1_ENST00000374421.3_Silent_p.S449S|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CCTCAGGGCTGCTTTCCCAGC	0.637000													12	45					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67682983	67682983	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67682983C>T	ENST00000334583.6	+	18	1924	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	RLTPR_ENST00000545661.1_Silent_p.F496F	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	532										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCCCAGGCTTCGGCTCAGACA	0.617000													17	7					0	0	1	0	0
DDX3X	1654	broad.mit.edu	37	X	41201840	41201840	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:41201840G>C	ENST00000399959.2	+	5	1232	c.377G>C	c.(376-378)cGc>cCc	p.R126P	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.R110P|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_Missense_Mutation_p.R170P	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	126					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGAAACAGTCGCTGGTGTGAC	0.453000										HNSCC(61;0.18)			22	95					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97602249	97602249	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:97602249C>G	ENST00000371207.3	+	4	510	c.447C>G	c.(445-447)ctC>ctG	p.L149L	ENTPD1_ENST00000371203.5_Intron|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Silent_p.L29L|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Silent_p.L144L|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Silent_p.L137L	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	137					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCGGTTGCTCAGGTATAGCA	0.537000													23	8					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823685	47823685	+	Silent	SNP	G	G	A	rs61733738	byFrequency	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:47823685G>A	ENST00000355085.3	+	2	673	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	217					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTCTACTCACGCTCACGATTT	0.622000													33	79					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16184341	16184341	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:16184341C>G	ENST00000399408.2	+	19	2715	c.2540C>G	c.(2539-2541)tCt>tGt	p.S847C	ABCC1_ENST00000346370.5_Missense_Mutation_p.S791C|ABCC1_ENST00000351154.5_Missense_Mutation_p.S788C|ABCC1_ENST00000399410.3_Missense_Mutation_p.S847C|ABCC1_ENST00000345148.5_Missense_Mutation_p.S847C|ABCC1_ENST00000349029.5_Missense_Mutation_p.S732C			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	847	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCAAGATCTCTGAGATGGGC	0.607000													11	30					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406279	144406279	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:144406279G>A	ENST00000523676.1	-	8	961	c.556C>T	c.(556-558)Cga>Tga	p.R186*	TOP1MT_ENST00000519148.1_Nonsense_Mutation_p.R186*|TOP1MT_ENST00000329245.4_Nonsense_Mutation_p.R284*|TOP1MT_ENST00000521193.1_Nonsense_Mutation_p.R186*			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	284					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGCAGGCGTCGAGCTGTTTCA	0.512000													31	125					0	0	1	0	0
POLDIP2	26073	broad.mit.edu	37	17	26678780	26678780	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:26678780C>G	ENST00000540200.1	-	8	665	c.666G>C	c.(664-666)aaG>aaC	p.K222N	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	223						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGGGTGATTCTTCTCTTGCC	0.507000													29	26					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156704188	156704188	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:156704188C>G	ENST00000368216.4	+	6	1654	c.1024C>G	c.(1024-1026)Cgt>Ggt	p.R342G	RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	342						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TCACTGCTACCGTGCAGCACT	0.642000													8	6					0	0	1	0	0
CSRNP1	64651	broad.mit.edu	37	3	39185627	39185627	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:39185627C>A	ENST00000273153.5	-	4	958		c.e4+1		CSRNP1_ENST00000514182.1_Splice_Site	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1						apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						AGCCACCACACCTGGCACTTG	0.592000													46	4					8.00217e-19	9.28572e-19	1	1	0
ILDR1	286676	broad.mit.edu	37	3	121724095	121724095	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:121724095C>G	ENST00000273691.3	-	3	480	c.375G>C	c.(373-375)caG>caC	p.Q125H	ILDR1_ENST00000393631.1_Missense_Mutation_p.Q125H|ILDR1_ENST00000462014.1_Missense_Mutation_p.Q137H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000344209.5_Missense_Mutation_p.Q125H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	125	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACTCACGGTTCTGGATGGTGA	0.627000													9	6					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8374889	8374889	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:8374889C>G	ENST00000538603.1	-	7	1482	c.924G>C	c.(922-924)ccG>ccC	p.P308P	FAM90A1_ENST00000307435.6_Silent_p.P308P	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	308							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GACCCAGTCTCGGTTTCTTGG	0.627000													22	3					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64545301	64545301	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:64545301G>C	ENST00000357395.3	+	55	11370	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E3714Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3747Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E3714Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E348Q|SYNE2_ENST00000394768.2_Missense_Mutation_p.E76Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3714	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAAAAATATTGAGAAAGCTCA	0.378000													20	23					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45923847	45923847	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:45923847C>G	ENST00000348697.2	+	4	589	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	FBLN1_ENST00000442170.2_Missense_Mutation_p.Q148E|FBLN1_ENST00000262722.7_Missense_Mutation_p.Q148E|FBLN1_ENST00000327858.6_Missense_Mutation_p.Q148E|FBLN1_ENST00000340923.5_Missense_Mutation_p.Q148E|FBLN1_ENST00000402984.3_Missense_Mutation_p.Q186E			P23142	FBLN1_HUMAN	fibulin 1	148					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGTCAAGAGCCAGGAGACCGG	0.587000													33	25					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19653728	19653728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:19653728G>T	ENST00000438132.3	+	22	2110	c.2062G>T	c.(2062-2064)Gag>Tag	p.E688*	C16orf62_ENST00000542263.1_Nonsense_Mutation_p.E621*|C16orf62_ENST00000251143.5_Nonsense_Mutation_p.E599*|C16orf62_ENST00000448695.1_Nonsense_Mutation_p.E449*|C16orf62_ENST00000543152.1_Nonsense_Mutation_p.E348*|C16orf62_ENST00000417362.2_Nonsense_Mutation_p.E532*	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	599						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCATCAACAAGAGCCCACCAA	0.428000													19	47					8.34094e-07	8.87782e-07	1	1	0
NLRP12	91662	broad.mit.edu	37	19	54313268	54313268	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:54313268C>G	ENST00000324134.6	-	3	1813	c.1645G>C	c.(1645-1647)Gcg>Ccg	p.A549P	NLRP12_ENST00000351894.4_Missense_Mutation_p.A549P|NLRP12_ENST00000391773.1_Missense_Mutation_p.A549P|NLRP12_ENST00000354278.3_Missense_Mutation_p.A549P|NLRP12_ENST00000391772.1_Missense_Mutation_p.A549P|NLRP12_ENST00000535162.1_Missense_Mutation_p.A549P|NLRP12_ENST00000345770.5_Missense_Mutation_p.A549P|NLRP12_ENST00000391775.3_Missense_Mutation_p.A549P	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	549					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCAGAAAACGCGTACTCGGTC	0.572000													26	59					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56586079	56586079	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:56586079C>G	ENST00000323456.5	-	6	541	c.417G>C	c.(415-417)ctG>ctC	p.L139L	MTMR4_ENST00000579925.1_Silent_p.L139L	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	139						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTCCTCGGTCAGCCCCAGGC	0.572000													6	28					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69653875	69653875	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:69653875C>T	ENST00000370598.1	+	6	2005	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	395	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTAATATTGCTCTTTGCCCA	0.418000													21	24					0	0	1	0	0
MIRLET7E	406887	broad.mit.edu	37	19	52196143	52196143	+	RNA	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:52196143G>T	ENST00000602324.1	-	0	566					NR_029482.1|NR_029693.1																						GACGGGGCCCGGCGGGGACCC	0.657000													5	23					0.00116845	0.00120488	1	1	0
SRL	6345	broad.mit.edu	37	16	4242609	4242609	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:4242609C>T	ENST00000399609.3	-	6	979	c.967G>A	c.(967-969)Gag>Aag	p.E323K	SRL_ENST00000537996.1_Missense_Mutation_p.E281K	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	782	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						AGTCTGTTCTCGATCACCTGA	0.552000													26	33					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9462158	9462158	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:9462158A>G	ENST00000379719.3	+	23	2994	c.2852A>G	c.(2851-2853)gAt>gGt	p.D951G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	951	Asp-rich.				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ATCATTGATGATGAAGATAAC	0.383000													26	37					0	0	1	0	0
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	RNA	SNP	C	C	T	rs111700178	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:1593264C>T	ENST00000436493.2	-	0	361																											AGGGCACATGCCTGACCAAAG	0.557000													4	30					0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36106236	36106236	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:36106236G>C	ENST00000203166.5	+	6	458	c.433G>C	c.(433-435)Gat>Cat	p.D145H	HAUS5_ENST00000379045.2_Missense_Mutation_p.D145H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	145					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TACGCTCCGAGATCCCATGCA	0.637000													8	6					0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105217991	105217991	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:105217991C>T	ENST00000329905.5	-	1	654	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	173						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCCACCTCTCGGGCCAACAG	0.701000													24	37					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642804	104642804	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:104642804C>G	ENST00000315264.7	+	11	3640	c.3262C>G	c.(3262-3264)Cgc>Ggc	p.R1088G	KIF26A_ENST00000423312.2_Missense_Mutation_p.R1227G			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1227					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGGCTGTGCTCGCCTGGGCCA	0.701000													8	2					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67686428	67686428	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67686428C>A	ENST00000334583.6	+	28	3199	c.2871C>A	c.(2869-2871)gtC>gtA	p.V957V	RLTPR_ENST00000545661.1_Silent_p.V921V	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	957	Pro-rich.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TTCACCTGGTCCCCTTCATTC	0.587000													17	13					4.26978e-12	4.77514e-12	1	1	0
SH3D21	79729	broad.mit.edu	37	1	36785787	36785787	+	Missense_Mutation	SNP	C	C	T	rs150094016	byFrequency	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:36785787C>T	ENST00000453908.2	+	14	1551	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	SH3D21_ENST00000312808.4_Missense_Mutation_p.S154L|SH3D21_ENST00000426732.2_Missense_Mutation_p.S392L|SH3D21_ENST00000505871.1_Missense_Mutation_p.S397L|SH3D21_ENST00000474766.1_3'UTR	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	392										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CACTTCTCTTCGGAGGAAGCC	0.557000													27	1					0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182617314	182617314	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:182617314A>G	ENST00000483095.2	-	6	575	c.318T>C	c.(316-318)caT>caC	p.H106H	RGS8_ENST00000258302.4_Silent_p.H124H|RGS8_ENST00000367556.1_Silent_p.H106H|RGS8_ENST00000367557.4_Silent_p.H106H			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	106	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CAAAGATCCTATGGGCCTTAG	0.522000													49	161					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31846311	31846311	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:31846311C>G	ENST00000397525.1	-	11	1771	c.1548G>C	c.(1546-1548)gaG>gaC	p.E516D	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.E341D|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.E516D|EIF4ENIF1_ENST00000382180.2_Intron|EIF4ENIF1_ENST00000397523.1_Intron	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	516						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGCCTGGAATCTCAGCAGGGG	0.423000													54	75					0	0	1	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730729	22730729	+	RNA	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:22730729C>A	ENST00000390296.2	+	0	252																											AAATCAGACTCAGATAAGCAG	0.532000													30	183					4.22769e-11	4.67165e-11	1	1	0
DDX19B	11269	broad.mit.edu	37	16	70359531	70359531	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:70359531G>C	ENST00000288071.6	+	7	792	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q	DDX19B_ENST00000568625.1_Missense_Mutation_p.E74Q|DDX19B_ENST00000393657.2_Missense_Mutation_p.E74Q|DDX19B_ENST00000563392.1_Missense_Mutation_p.E74Q|DDX19B_ENST00000563206.1_Missense_Mutation_p.E188Q|DDX19B_ENST00000355992.3_Missense_Mutation_p.E152Q|DDX19B_ENST00000451014.3_Missense_Mutation_p.E157Q|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.E183Q	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	183	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAAAGTGATTGAACAAATGGG	0.413000													177	99					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304884	102304884	+	RNA	SNP	G	G	A	rs143982735	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:102304884G>A	ENST00000561463.1	+	0	12930																											GCGTGGGAACGAGAAGACACT	0.562000													3	24					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122269628	122269628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:122269628C>A	ENST00000462315.1	-	6	1422	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*	PARP9_ENST00000360356.2_Nonsense_Mutation_p.E412*|PARP9_ENST00000477522.2_Nonsense_Mutation_p.E377*|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Nonsense_Mutation_p.E377*	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	412	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCCAAACACTCCTTCATTGCA	0.383000													7	24					0.000157383	0.000164489	1	1	0
MDN1	23195	broad.mit.edu	37	6	90422415	90422415	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:90422415C>G	ENST00000369393.3	-	48	7424	c.7309G>C	c.(7309-7311)Gat>Cat	p.D2437H	MDN1_ENST00000428876.1_Missense_Mutation_p.D2437H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2437					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCACAGAATCTGGCCACAGT	0.473000													26	10					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981717	92981717	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:92981717T>C	ENST00000268164.3	+	4	662	c.425T>C	c.(424-426)cTc>cCc	p.L142P	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.L121P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	142					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTCTACGAGCTCCTCCCCAGG	0.517000													41	42					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134125752	134125752	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:134125752T>A	ENST00000220616.4	+	44	7699	c.7659T>A	c.(7657-7659)gaT>gaA	p.D2553E	TG_ENST00000542445.1_Missense_Mutation_p.D923E|TG_ENST00000519543.1_Missense_Mutation_p.D686E|TG_ENST00000377869.1_Missense_Mutation_p.D2496E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2553					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			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)		AGGACTCAGATGCCCGCGTCG	0.532000													14	33					0	0	1	0	0
FICD	11153	broad.mit.edu	37	12	108912308	108912308	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:108912308G>A	ENST00000552695.1	+	3	668	c.433G>A	c.(433-435)Gag>Aag	p.E145K	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	145					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGCGCTCACCGAGTTTGGCAT	0.557000													22	3					0	0	1	0	0
ACD	65057	broad.mit.edu	37	16	67693322	67693322	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67693322G>A	ENST00000219251.8	-	5	994	c.663C>T	c.(661-663)tgC>tgT	p.C221C	ACD_ENST00000393919.4_Splice_Site_p.C224C	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	224					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGTCTTGGTTGCTAAGAAAAA	0.572000													9	16					0	0	1	0	0
DUS4L	11062	broad.mit.edu	37	7	107215699	107215699	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:107215699G>A	ENST00000265720.3	+	6	785	c.423G>A	c.(421-423)gtG>gtA	p.V141V	DUS4L_ENST00000402620.1_Silent_p.V20V	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	141					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						AAGACATGGTGAAACAAGTAA	0.348000													55	51					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107646764	107646764	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:107646764G>A	ENST00000374736.3	-	4	640	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ABCA1_ENST00000423487.2_Silent_p.F82F|ABCA1_ENST00000374733.1_Silent_p.F22F	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	82					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCGGGTAACGGAAACAGGGGT	0.458000													33	4					0	0	1	0	0
TGS1	96764	broad.mit.edu	37	8	56698280	56698280	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:56698280G>A	ENST00000260129.5	+	3	646	c.169G>A	c.(169-171)Gac>Aac	p.D57N		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	57					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GTCTATAGGAGACCAGGCGAC	0.423000													7	15					0	0	1	0	0
MITD1	129531	broad.mit.edu	37	2	99787986	99787986	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:99787986C>G	ENST00000289359.2	-	3	453	c.377G>C	c.(376-378)aGa>aCa	p.R126T	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	126					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ATGAGTATGTCTAATATAAGG	0.289000													23	64					0	0	1	0	0
ASL	435	broad.mit.edu	37	7	65552352	65552352	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:65552352G>C	ENST00000304874.9	+	9	736	c.634G>C	c.(634-636)Gac>Cac	p.D212H	ASL_ENST00000395332.3_Missense_Mutation_p.D212H|ASL_ENST00000395331.3_Missense_Mutation_p.D212H|ASL_ENST00000380839.4_Missense_Mutation_p.D186H	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	212					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCTGGGTGTGGACCGAGAGCT	0.627000													12	21					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67683513	67683513	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67683513C>G	ENST00000334583.6	+	20	2238	c.1910C>G	c.(1909-1911)tCg>tGg	p.S637W	RLTPR_ENST00000545661.1_Missense_Mutation_p.S601W	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	637	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGGGTCAACTCGAGGCTCCGG	0.701000													14	6					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20423011	20423011	+	Splice_Site	SNP	G	G	A	rs145221195	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:20423011G>A	ENST00000331849.4	+	2	351		c.e2+1		ACSM5_ENST00000575584.1_Splice_Site	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5						fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTGGAAGAGGTGAAGCCTGT	0.552000													5	19					0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55074960	55074960	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:55074960G>A	ENST00000302250.2	-	8	1899	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.A393V|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	580						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACCAACATGAGCCAGCAAGTC	0.592000													13	6					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62547774	62547774	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:62547774C>A	ENST00000262435.9	-	16	1984	c.1797G>T	c.(1795-1797)ttG>ttT	p.L599F		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	599	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity	p.L591fs*5(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCTGCAGAGCCAAGAATTGAG	0.378000													35	202					9.8876e-21	1.15898e-20	1	1	0
THEMIS2	9473	broad.mit.edu	37	1	28211907	28211907	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:28211907G>T	ENST00000373921.3	+	5	1825	c.1821G>T	c.(1819-1821)aaG>aaT	p.K607N	THEMIS2_ENST00000373925.1_Missense_Mutation_p.D250Y|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000373927.3_Missense_Mutation_p.D113Y|THEMIS2_ENST00000328928.7_Missense_Mutation_p.K478N	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		CGTACAGCAAGATTCCTGCCC	0.582000													21	3					1.96292e-10	2.16389e-10	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11332607	11332607	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:11332607T>C	ENST00000315872.6	-	31	4367	c.3919A>G	c.(3919-3921)Aaa>Gaa	p.K1307E	ROCK2_ENST00000401753.1_Missense_Mutation_p.K1064E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1307	PH.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCCTCCTTTTTGTCCATATGA	0.393000													15	50					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99968657	99968657	+	Translation_Start_Site	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:99968657A>T	ENST00000314594.5	+	0	1089				R3HCC1L_ENST00000370584.3_Silent_p.G262G|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000298999.3_Silent_p.G262G	NM_001256619.1	NP_001243548.1			R3H domain and coiled-coil containing 1-like																		CCAGCAGCGGAGGCATCACCA	0.398000													29	10					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802159	185802159	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:185802159C>T	ENST00000302277.6	+	4	2630	c.2036C>T	c.(2035-2037)aCt>aTt	p.T679I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	679						intracellular	zinc ion binding			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						ACATGGAATACTGAATACAAC	0.323000													27	80					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128846180	128846180	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:128846180C>T	ENST00000249373.3	+	5	1390	c.1110C>T	c.(1108-1110)gtC>gtT	p.V370V		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	370					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCCCCTTTGTCCTCACTGTGG	0.587000			Mis		skin basal cell								48	36					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108133218	108133218	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:108133218G>C	ENST00000273353.3	-	31	4122	c.4066C>G	c.(4066-4068)Cga>Gga	p.R1356G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1356						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TACTGCTCTCGTAGAAGGTCA	0.498000													3	52					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35042939	35042939	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:35042939G>C	ENST00000312292.5	+	2	360	c.313G>C	c.(313-315)Gag>Cag	p.E105Q	C9orf131_ENST00000354479.5_Missense_Mutation_p.E32Q|C9orf131_ENST00000421362.2_Missense_Mutation_p.E57Q	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	105										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			aggggaagaagaggaagaggg	0.527000													35	27					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46325293	46325293	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:46325293A>C	ENST00000369367.3	-	10	1070	c.837T>G	c.(835-837)caT>caG	p.H279Q	SCAF11_ENST00000419565.2_Missense_Mutation_p.H279Q|SCAF11_ENST00000549162.1_Missense_Mutation_p.H87Q	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	279					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTTTACCAAAATGTTCGAAAG	0.299000													4	16					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56918777	56918777	+	Silent	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:56918777A>T	ENST00000244040.3	+	3	401	c.120A>T	c.(118-120)gcA>gcT	p.A40A	RAB22A_ENST00000488949.1_3'UTR	NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	40					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			TTTATAGGGCATCTTTTATGA	0.398000													47	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612805	179612805	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:179612805C>T	ENST00000360870.5	-	46	14544	c.14322G>A	c.(14320-14322)aaG>aaA	p.K4774K	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	886	Ig-like 28.						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)			CCCCTAAAGGCTTTTCCTCAC	0.423000													12	39					0	0	1	0	0
KRBA2	124751	broad.mit.edu	37	17	8273648	8273648	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:8273648C>T	ENST00000396267.1	-	2	868	c.37G>A	c.(37-39)Gtt>Att	p.V13I	RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000331336.2_Missense_Mutation_p.V95I			Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	95					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						GCATTTGAAACCCCAGGTGGA	0.373000													14	33					0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154408493	154408493	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:154408493C>A	ENST00000368485.3	+	6	1293	c.856C>A	c.(856-858)Ctg>Atg	p.L286M	IL6R_ENST00000507256.1_Intron|IL6R_ENST00000344086.4_Missense_Mutation_p.L286M	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	286	Fibronectin type-III.				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGAGCGGCCTGAGGCACGT	0.667000													3	4					0.115264	0.116522	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25451445	25451445	+	RNA	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:25451445A>G	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1																						TCCTGAAGAGAGGTGATGACT	0.498000													5	284					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138823238	138823238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:138823238G>A	ENST00000370557.1	-	27	4064	c.3037C>T	c.(3037-3039)Cga>Tga	p.R1013*	ATP11C_ENST00000327569.3_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000359686.2_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Nonsense_Mutation_p.R1019*|ATP11C_ENST00000361648.2_Nonsense_Mutation_p.R1019*			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1019					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GTCCAGAATCGGGTATCCAAG	0.388000													17	22					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115791981	115791981	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:115791981C>T	ENST00000264363.2	-	7	2340	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	554	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGCCAGTTGCACTGGAGGCA	0.458000													12	6					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140285017	140285017	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:140285017G>A	ENST00000458420.3	+	17	2980	c.2790G>A	c.(2788-2790)ggG>ggA	p.G930G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	930					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AGGAGGAAGGGATGGGCAGAG	0.607000										HNSCC(16;0.037)			3	14					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194469	33194469	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:33194469C>A	ENST00000309558.3	-	5	2072	c.1655G>T	c.(1654-1656)aGt>aTt	p.S552I		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	552					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						AAGCTCCTCACTTGCACCTGG	0.582000													7	22					0.0293803	0.0298969	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27781290	27781290	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:27781290C>T	ENST00000261588.4	+	21	4103	c.4084C>T	c.(4084-4086)Ctc>Ttc	p.L1362F		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1362										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCAAGAAATCCTCTTCGTGGA	0.647000													31	80					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4935421	4935421	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:4935421G>A	ENST00000345988.2	-	22	3324	c.3235C>T	c.(3235-3237)Cgc>Tgc	p.R1079C	PPL_ENST00000590782.2_Missense_Mutation_p.R1077C	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1079					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			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						TGGTCCTGGCGCTGGTGGTCC	0.617000													20	31					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71054178	71054178	+	Missense_Mutation	SNP	T	T	C	rs117718337		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:71054178T>C	ENST00000393567.2	-	22	3379	c.3229A>G	c.(3229-3231)Ata>Gta	p.I1077V	HYDIN_ENST00000448089.2_Missense_Mutation_p.I1029V	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1077			I -> V (in dbSNP:rs6416709).					p.I1077V(3)|p.I1029V(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTTCTTTATGGCCAAGGGC	0.418000													4	41					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10863033	10863033	+	RNA	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:10863033C>T	ENST00000559480.1	+	0	329																		p.T110K(1)		breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TCTGAGGACACGGCCATGTAT	0.502000													60	659					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14839133	14839133	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:14839133G>C	ENST00000261170.3	-	3	493	c.357C>G	c.(355-357)ctC>ctG	p.L119L	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	119					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGGGCCCTATGAGGACACAGC	0.413000													10	6					0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8932723	8932723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:8932723G>A	ENST00000601372.1	-	6	787	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_Nonsense_Mutation_p.Q26*			Q96NG5	ZN558_HUMAN	zinc finger protein 558	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TCTCCGCCCTGTGTGTGTCCT	0.517000													121	13					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800054	35800054	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:35800054C>G	ENST00000342694.2	+	4	1278	c.1023C>G	c.(1021-1023)atC>atG	p.I341M		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	341					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGATGGGATCCTGCTATATG	0.527000													53	83					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83839948	83839948	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:83839948G>A	ENST00000302236.5	+	5	2634	c.2583G>A	c.(2581-2583)gaG>gaA	p.E861E	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	861							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCATTCAGAGAGAACTGATA	0.318000													17	40					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45601141	45601141	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr22:45601141A>T	ENST00000336156.5	-	5	538	c.473T>A	c.(472-474)aTc>aAc	p.I158N	KIAA0930_ENST00000251993.7_Missense_Mutation_p.I163N|KIAA0930_ENST00000391627.2_Missense_Mutation_p.I124N|KIAA0930_ENST00000443310.3_Missense_Mutation_p.I140N	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGGGTAGCTGATCTTGGACTC	0.552000													44	36					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	422	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572000													14	17					1.36491e-13	1.53015e-13	1	1	0
BRCA1	672	broad.mit.edu	37	17	41223190	41223190	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:41223190C>T	ENST00000309486.4	-	14	4880	c.3853G>A	c.(3853-3855)Gaa>Aaa	p.E1285K	BRCA1_ENST00000491747.2_Missense_Mutation_p.E477K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E477K|BRCA1_ENST00000357654.3_Missense_Mutation_p.E1581K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.E398K|BRCA1_ENST00000493795.1_Missense_Mutation_p.E1534K|BRCA1_ENST00000591534.1_Missense_Mutation_p.E72K|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E1602K|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.E439K	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1581					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			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)		GCTCTGTCTTCAGAAGGATCA	0.473000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			81	6					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179545002	179545002	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:179545002C>G	ENST00000589042.1	-	139	33621	c.33397G>C	c.(33397-33399)Gaa>Caa	p.E11133Q	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10816Q|TTN_ENST00000342992.6_Missense_Mutation_p.E9889Q|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10816	Glu-rich.|Pro-rich.						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)			GGTGCTACTTCTTTTCTAGGG	0.393000													61	50					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78369213	78369213	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:78369213C>A	ENST00000278550.7	-	34	8662	c.8200G>T	c.(8200-8202)Gtg>Ttg	p.V2734L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TAGCCTTGCACCCGCCCTGTG	0.622000													69	100					7.75977e-34	9.23592e-34	1	1	0
CACUL1	143384	broad.mit.edu	37	10	120514104	120514104	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:120514104C>T	ENST00000369151.3	-	1	654	c.171G>A	c.(169-171)ctG>ctA	p.L57L	CACUL1_ENST00000340214.4_Silent_p.L57L	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		GCACCGCCAGCAGCTGCCCCC	0.736000													3	11					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975151	31975151	+	RNA	SNP	T	T	A	rs115914286	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:31975151T>A	ENST00000342991.6	+	0	1274					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GGAAGGGCACTTGCACATGGC	0.607000													23	37					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94655486	94655486	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:94655486C>G	ENST00000260526.6	-	13	1617	c.1435G>C	c.(1435-1437)Gat>Cat	p.D479H	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	479					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTCACCCATCAACTTTTTCT	0.348000													15	44					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082285	140082285	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140082285C>T	ENST00000323927.2	-	2	392	c.388G>A	c.(388-390)Gag>Aag	p.E130K		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TCCAGCAGCTCTAGGCTACGC	0.582000													55	30					0	0	1	0	0
SH2D5	400745	broad.mit.edu	37	1	21050658	21050658	+	Silent	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:21050658G>T	ENST00000375031.1	-	6	1089	c.465C>A	c.(463-465)gcC>gcA	p.A155A	SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Silent_p.A239A	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	155										lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCTGCGAATGGCCTTCTTGC	0.657000													17	70					9.16793e-09	9.96421e-09	1	1	0
MCM4	4173	broad.mit.edu	37	8	48883197	48883197	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:48883197C>G	ENST00000262105.2	+	11	1770	c.1561C>G	c.(1561-1563)Cag>Gag	p.Q521E	MCM4_ENST00000523944.1_Missense_Mutation_p.Q521E|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	521	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			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)				CCAGCTGCTGCAGTACGTGTA	0.552000													15	41					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023272	18023272	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:18023272C>T	ENST00000205890.5	+	2	1496	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	386	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCGTCTATGGCGGTGGGGACG	0.607000													26	63					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494213	21494213	+	Missense_Mutation	SNP	G	G	A	rs115780948	byFrequency	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:21494213G>A	ENST00000377142.4	-	1	451	c.95C>T	c.(94-96)cCg>cTg	p.P32L		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	32					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCTTCCTCCGGACCTTCGGC	0.652000													14	48					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12149955	12149955	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:12149955C>G	ENST00000263035.4	+	12	2157	c.2095C>G	c.(2095-2097)Cat>Gat	p.H699D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	699					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCTCCTTCCACATGGCTACGA	0.542000													16	18					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2882135	2882135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:2882135C>A	ENST00000382280.3	+	4	681	c.602C>A	c.(601-603)tCa>tAa	p.S201*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.S171*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	201						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTCACATACTCAGCAAACTCA	0.542000													20	32					4.35082e-09	4.75101e-09	1	1	0
MUC4	4585	broad.mit.edu	37	3	195516194	195516194	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:195516194C>T	ENST00000463781.3	-	2	2716	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G753R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	758					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTCCATTGTCCTTCTGGGCCC	0.587000													17	62					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33474568	33474568	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:33474568C>G	ENST00000265371.4	-	16	2944	c.2419G>C	c.(2419-2421)Gaa>Caa	p.E807Q	NRP1_ENST00000395995.1_Missense_Mutation_p.E807Q|NRP1_ENST00000374875.1_Missense_Mutation_p.E619Q|NRP1_ENST00000374867.2_Missense_Mutation_p.E807Q			O14786	NRP1_HUMAN	neuropilin 1	807	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GCACAATCTTCTTGTGAAATG	0.408000													8	18					0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22011489	22011489	+	Silent	SNP	C	C	G	rs143382116		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:22011489C>G	ENST00000306317.2	-	5	775	c.486G>C	c.(484-486)ctG>ctC	p.L162L	LGI3_ENST00000424267.2_Silent_p.L138L	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	162					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACAAGTCATTCAGGATGTCCA	0.557000													10	37					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4839995	4839995	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:4839995G>C	ENST00000379333.1	-	16	2052	c.1660C>G	c.(1660-1662)Ctc>Gtc	p.L554V	SLC23A2_ENST00000338244.1_Missense_Mutation_p.L554V|SLC23A2_ENST00000424750.2_Missense_Mutation_p.L440V	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	554					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCAGTTGTGAGAAGGACGTTC	0.443000													34	53					0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91178053	91178053	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:91178053G>A	ENST00000371795.4	+	2	1310	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	IFIT5_ENST00000416601.1_Missense_Mutation_p.R318H	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	366							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAAGCTCTTCGTCTGGAGAAC	0.453000													10	4					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304883	102304883	+	RNA	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:102304883C>G	ENST00000561463.1	+	0	12929																											CGCGTGGGAACGAGAAGACAC	0.562000													3	24					0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113603828	113603828	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:113603828C>T	ENST00000314045.7	-	13	1451	c.1424G>A	c.(1423-1425)gGt>gAt	p.G475D	DDX54_ENST00000306014.5_Missense_Mutation_p.G475D	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	475					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCATCCACACCGGCCACACC	0.667000													3	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9007506	9007506	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:9007506G>A	ENST00000397910.4	-	43	39665	c.39462C>T	c.(39460-39462)tcC>tcT	p.S13154S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13156					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						TGGGGACGGGGGATGGAGTCC	0.473000													7	26					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130982561	130982561	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:130982561T>C	ENST00000341179.7	+	6	882	c.790T>C	c.(790-792)Tct>Cct	p.S264P	DNM1_ENST00000486160.1_Missense_Mutation_p.S264P|DNM1_ENST00000372923.3_Missense_Mutation_p.S264P|DNM1_ENST00000393594.3_Missense_Mutation_p.S264P|DNM1_ENST00000475805.1_Missense_Mutation_p.S264P	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	264					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTCCCATCCATCTTATCGCCA	0.557000													49	8					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121046	104121046	+	Splice_Site	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:104121046A>G	ENST00000388887.2	+	47	5057	c.4853A>G	c.(4852-4854)gAg>gGg	p.E1618G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1618	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTCCCACAGGAGCATTTCGTG	0.507000													66	84					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73929847	73929847	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:73929847C>T	ENST00000476977.1	+	4	2033	c.342C>T	c.(340-342)ctC>ctT	p.L114L	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Silent_p.L114L|GTF2IRD1_ENST00000455841.2_Silent_p.L146L|GTF2IRD1_ENST00000424337.2_Silent_p.L114L			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	114						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCCGTAGCCTCCCTCGGTCCT	0.592000													34	2					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20126786	20126786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:20126786G>A	ENST00000541730.1	-	6	824	c.229C>T	c.(229-231)Cga>Tga	p.R77*	MBOAT1_ENST00000536798.1_Nonsense_Mutation_p.R226*|MBOAT1_ENST00000324607.7_Nonsense_Mutation_p.R226*			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	226					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AAACCTTTTCGCTTCCAGTTC	0.443000													75	20					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39947622	39947622	+	Translation_Start_Site	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:39947622C>T	ENST00000442448.1	-	3	274	c.3G>A	c.(1-3)atG>atA	p.M1I	ERG_ENST00000398897.1_5'UTR|ERG_ENST00000417133.2_Start_Codon_SNP_p.M1I|ERG_ENST00000398911.1_Start_Codon_SNP_p.M1I|ERG_ENST00000398919.2_Start_Codon_SNP_p.M1I|ERG_ENST00000398910.1_Start_Codon_SNP_p.M1I|ERG_ENST00000485493.1_5'UTR	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	1					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CAGTCTGAATCATGTCCTTCA	0.478000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								21	18					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799460	141799460	+	Silent	SNP	T	T	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:141799460T>C	ENST00000475668.2	+	67	7851	c.7797T>C	c.(7795-7797)ccT>ccC	p.P2599P	MGAM_ENST00000549489.2_Silent_p.P1703P			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1703					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCCAGCCCCTCTTGACCACA	0.527000													25	40					0	0	1	0	0
TRGV4	6977	broad.mit.edu	37	7	38393325	38393325	+	RNA	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:38393325G>T	ENST00000390345.2	-	0	678																											GCCCATCCCAGGTGGCACAGT	0.488000													4	47					0.150653	0.151636	1	1	0
BRCA1	672	broad.mit.edu	37	17	41223131	41223131	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:41223131C>T	ENST00000309486.4	-	14	4939	c.3912G>A	c.(3910-3912)ttG>ttA	p.L1304L	BRCA1_ENST00000491747.2_Silent_p.L496L|BRCA1_ENST00000468300.1_Silent_p.L496L|BRCA1_ENST00000357654.3_Silent_p.L1600L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Silent_p.L417L|BRCA1_ENST00000493795.1_Silent_p.L1553L|BRCA1_ENST00000591534.1_Silent_p.L91L|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000471181.2_Silent_p.L1621L|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000352993.3_Silent_p.L458L	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1600					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			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)		GGGGAACTTTCAATGCAGAGG	0.473000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			92	9					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94089138	94089138	+	Silent	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:94089138C>G	ENST00000553484.1	+	31	5779	c.5625C>G	c.(5623-5625)ctC>ctG	p.L1875L	UNC79_ENST00000393151.2_Silent_p.L1853L|UNC79_ENST00000256339.4_Silent_p.L1676L|UNC79_ENST00000555664.1_Silent_p.L1853L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1853						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GAGAGTACCTCGACATCTCCT	0.458000													16	2					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50964862	50964862	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:50964862G>T	ENST00000357701.5	+	25	3046	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	999	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTTATCGTGGGCAATGAATA	0.547000											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					8.12818e-05	8.51437e-05	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43045158	43045158	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:43045158A>G	ENST00000267890.6	-	14	2394	c.2286T>C	c.(2284-2286)caT>caC	p.H762H		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	762					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCAGTCTATTATGATCAGGAA	0.383000													117	60					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107403776	107403776	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:107403776C>T	ENST00000334504.7	-	43	4675	c.4442G>A	c.(4441-4443)tGt>tAt	p.C1481Y	COL4A6_ENST00000538570.1_Missense_Mutation_p.C1424Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.C1457Y|COL4A6_ENST00000394872.2_Missense_Mutation_p.C1482Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.C1482Y	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1482	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCGATGGGACACGGGGGCAC	0.607000									Alport syndrome with Diffuse Leiomyomatosis				76	49					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184720	13184720	+	Splice_Site	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:13184720C>G	ENST00000358552.3	+	4	695	c.695C>G	c.(694-696)aCt>aGt	p.T232S	NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000587260.1_Splice_Site_p.T232S|NFIX_ENST00000592199.1_Splice_Site_p.T233S|NFIX_ENST00000397661.2_Splice_Site_p.T233S|NFIX_ENST00000585575.1_Splice_Site_p.T225S|NFIX_ENST00000588228.1_Splice_Site_p.T186S|NFIX_ENST00000587760.1_Splice_Site_p.T225S|NFIX_ENST00000360105.4_Splice_Site_p.T236S			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	233					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TTCTTCCCAGCTCCTGTTGCA	0.587000													17	25					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824840	74824840	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:74824840C>T	ENST00000256362.4	+	2	1595	c.1354C>T	c.(1354-1356)Ccg>Tcg	p.P452S		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	452					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCAAGCCGGCACCAGC	0.592000													3	27					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187477	140187477	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:140187477C>A	ENST00000530339.1	+	1	705	c.705C>A	c.(703-705)gcC>gcA	p.A235A	PCDHA4_ENST00000512229.2_Silent_p.A235A|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Silent_p.A235A	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTGGATGCCAATGACAATG	0.428000													29	35					7.26314e-15	8.24224e-15	1	1	0
ZNF737	100129842	broad.mit.edu	37	19	20728550	20728550	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:20728550G>C	ENST00000427401.4	-	4	553	c.459C>G	c.(457-459)gtC>gtG	p.V153V		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	153					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATTTATGAATGACTTTCACAT	0.299000													17	27					0	0	1	0	0
PODN	127435	broad.mit.edu	37	1	53544108	53544108	+	Missense_Mutation	SNP	G	G	A	rs78516010	byFrequency	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:53544108G>A	ENST00000371500.3	+	10	1354	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R357H|PODN_ENST00000395871.2_Missense_Mutation_p.R215H	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	309					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCTGCCGCGCAGCCTGGTG	0.637000													3	37					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202342854	202342854	+	Silent	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:202342854G>T	ENST00000194530.3	+	9	1130	c.765G>T	c.(763-765)ggG>ggT	p.G255G	STRADB_ENST00000392249.2_Silent_p.G255G	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	255	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ACAGTGTTGGGATTACAGCAT	0.388000													22	41					1.42536e-11	1.58259e-11	1	1	0
ZIK1	284307	broad.mit.edu	37	19	58099952	58099952	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:58099952G>A	ENST00000597850.1	+	3	333	c.118G>A	c.(118-120)Gag>Aag	p.E40K	ZIK1_ENST00000536878.2_Missense_Mutation_p.E27K|ZIK1_ENST00000598726.1_3'UTR|ZIK1_ENST00000599456.1_5'UTR|ZIK1_ENST00000307468.4_Intron	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTCACAGGACGAGTGGGGACT	0.517000													20	59					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98764523	98764523	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:98764523C>T	ENST00000266058.4	-	33	3882	c.3637G>A	c.(3637-3639)Gca>Aca	p.A1213T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1213T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1213	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		AGCTCAACTGCAATGTGGTCG	0.597000													9	4					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54755921	54755921	+	Missense_Mutation	SNP	G	G	T	rs34889610		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:54755921G>T	ENST00000450632.1	-	12	1675	c.1598C>A	c.(1597-1599)gCt>gAt	p.A533D	LILRB5_ENST00000449561.2_Missense_Mutation_p.A542D|LILRB5_ENST00000345866.6_Missense_Mutation_p.A442D|LILRB5_ENST00000316219.5_Missense_Mutation_p.A541D			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	541					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTCACCCGAGCATCCATCTC	0.627000													32	93					3.67414e-24	4.32857e-24	1	1	0
HHATL	57467	broad.mit.edu	37	3	42740330	42740330	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:42740330T>A	ENST00000441594.1	-	5	614	c.353A>T	c.(352-354)tAc>tTc	p.Y118F	HHATL_ENST00000310417.5_Missense_Mutation_p.Y118F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	118					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		CAGCAGCAGGTACCAAGGGCC	0.612000													16	80					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54140182	54140182	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:54140182C>T	ENST00000376650.1	+	3	567	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCCAAGTTTGCGCTCCAAGCT	0.443000													4	96					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6511676	6511676	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:6511676C>T	ENST00000377828.1	+	9	2097	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F	ESPN_ENST00000461727.1_Silent_p.F77F|ESPN_ENST00000475228.1_3'UTR|ESPN_ENST00000416731.1_Silent_p.F77F	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	643	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCAAGTCTTTCAACATGATGT	0.637000													21	2					0	0	1	0	0
PMP22	5376	broad.mit.edu	37	17	15162449	15162449	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:15162449G>A	ENST00000395938.2	-	3	334	c.140C>T	c.(139-141)tCa>tTa	p.S47L	PMP22_ENST00000426385.3_Missense_Mutation_p.S47L|PMP22_ENST00000494511.1_Intron|PMP22_ENST00000395936.1_Missense_Mutation_p.S47L|PMP22_ENST00000312280.3_Missense_Mutation_p.S47L	NM_001281455.1|NM_153321.1	NP_001268384.1|NP_696996.1	Q01453	PMP22_HUMAN	peripheral myelin protein 22	47					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		GACATTTCCTGAGGAAGAGGT	0.507000													13	29					0	0	1	0	0
DERL2	51009	broad.mit.edu	37	17	5383885	5383885	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:5383885C>T	ENST00000158771.4	-	5	400	c.345G>A	c.(343-345)gtG>gtA	p.V115V	DERL2_ENST00000572834.1_Intron|DERL2_ENST00000570848.1_Intron	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	115					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						AAACTAAGCTCACAAACAGAC	0.413000													50	5					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406786	75406786	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:75406786G>A	ENST00000394810.2	-	4	2773	c.2624C>T	c.(2623-2625)gCc>gTc	p.A875V	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.A651V	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	875	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGACCCTGAGGCGATAGGGCC	0.577000													31	48					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30740697	30740697	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:30740697C>T	ENST00000262518.4	+	27	6316	c.5931C>T	c.(5929-5931)atC>atT	p.I1977I	SRCAP_ENST00000344771.4_Silent_p.I1819I|SRCAP_ENST00000395059.2_Silent_p.I1915I	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1977					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGGTTCATCTTTGTCATGC	0.557000													19	9					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14471541	14471541	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:14471541G>C	ENST00000344204.4	+	38	5902	c.5878G>C	c.(5878-5880)Gaa>Caa	p.E1960Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E1960Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1960					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGATGAGATGGAAGAAAGGAA	0.453000													45	26					0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79073861	79073861	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:79073861C>G	ENST00000321300.6	+	7	716	c.623C>G	c.(622-624)tCc>tGc	p.S208C	BAIAP2_ENST00000416299.2_Missense_Mutation_p.S71C|BAIAP2_ENST00000321280.7_Missense_Mutation_p.S208C|BAIAP2_ENST00000575712.1_Missense_Mutation_p.S208C|BAIAP2_ENST00000428708.2_Missense_Mutation_p.S208C|BAIAP2_ENST00000392411.3_Missense_Mutation_p.S130C|BAIAP2_ENST00000575245.1_Missense_Mutation_p.S241C|BAIAP2_ENST00000435091.3_Missense_Mutation_p.S208C	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	208	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCCAAGAACTCCGCGGCCTAC	0.672000													45	38					0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108112949	108112949	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:108112949C>T	ENST00000426128.2	-	10	2184	c.2059G>A	c.(2059-2061)Gca>Aca	p.A687T	PNPLA8_ENST00000436062.1_Missense_Mutation_p.A749T|PNPLA8_ENST00000453144.1_Missense_Mutation_p.A649T|PNPLA8_ENST00000257694.8_Missense_Mutation_p.A749T|PNPLA8_ENST00000422087.1_Missense_Mutation_p.A749T|PNPLA8_ENST00000388728.5_Missense_Mutation_p.A687T	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	749					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AATATTTTTGCAACTTTTTTC	0.289000													9	41					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12304312	12304312	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:12304312G>A	ENST00000358136.3	+	4	315	c.185G>A	c.(184-186)gGg>gAg	p.G62E	VPS13D_ENST00000356315.4_Missense_Mutation_p.G62E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	62					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCTTCATTGGGAAAGTAACC	0.413000													50	7					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			83	18					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834866	61834866	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:61834866C>G	ENST00000280772.2	-	37	5964	c.5773G>C	c.(5773-5775)Gag>Cag	p.E1925Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCTTCTCCTCAGGCACATCT	0.408000													16	20					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506687	44506687	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:44506687C>G	ENST00000255152.2	+	2	1699	c.1490C>G	c.(1489-1491)aCc>aGc	p.T497S	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.T491S	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	497							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGCTGGACACCTTGCACCAG	0.582000													6	25					0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54139998	54139998	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:54139998C>T	ENST00000376650.1	+	3	383	c.332C>T	c.(331-333)cCc>cTc	p.P111L		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CCCAGATTGCCCAACGCTGCT	0.542000													39	20					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67688278	67688278	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:67688278C>G	ENST00000334583.6	+	31	3593	c.3265C>G	c.(3265-3267)Cct>Gct	p.P1089A	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1053A	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1089										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCGCCACTCCTGTCCCCCG	0.652000													7	2					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974213	128974213	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:128974213C>G	ENST00000522781.1	-	4	1002	c.447G>C	c.(445-447)gaG>gaC	p.E149D	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.E149D	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	149										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTCGTTCTTCTCTTTCGCAT	0.542000													24	42					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94881113	94881113	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:94881113G>C	ENST00000289495.5	+	9	2586	c.2370G>C	c.(2368-2370)aaG>aaC	p.K790N	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K812N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K790N|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K790N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.K790N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K790N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	790	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGAAAGAAAGAAAATAGAAG	0.338000										HNSCC(28;0.073)			12	39					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519828	73519828	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:73519828G>A	ENST00000436467.2	-	2	605	c.218C>T	c.(217-219)gCg>gTg	p.A73V	EGR4_ENST00000545030.1_Missense_Mutation_p.A176V			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	72						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGTGTGGGCGCAGGCCCCTC	0.632000													6	2					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128721031	128721031	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:128721031C>T	ENST00000371113.4	+	20	2357	c.2192C>T	c.(2191-2193)cCc>cTc	p.P731L	OCRL_ENST00000357121.5_Missense_Mutation_p.P723L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	731	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGTGAGAGACCCCTTCAGGTT	0.448000													4	256					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73933956	73933956	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:73933956C>G	ENST00000476977.1	+	6	2514	c.823C>G	c.(823-825)Cct>Gct	p.P275A	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P275A|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P307A|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P275A			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	275						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGGAAGCACCTTCCTGCCC	0.657000													16	3					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100151733	100151733	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:100151733C>T	ENST00000300176.4	+	5	725	c.603C>T	c.(601-603)caC>caT	p.H201H	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	201					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTCAGTCTCACGCTCGGACAT	0.602000													7	23					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696605	17696605	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:17696605G>A	ENST00000353383.1	+	3	812	c.343G>A	c.(343-345)Gag>Aag	p.E115K	RAI1_ENST00000261641.6_Missense_Mutation_p.E115K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	115						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTATGCTGGTGAGGAGAGCCT	0.647000													9	8					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368843	37368843	+	Missense_Mutation	SNP	A	A	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:37368843A>C	ENST00000361924.2	+	14	5840	c.5466A>C	c.(5464-5466)aaA>aaC	p.K1822N	GOLGA4_ENST00000356847.4_Missense_Mutation_p.K1844N|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1822	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGGAGGTAAAAATAACATAC	0.383000													34	67					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632546	3632546	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:3632546G>C	ENST00000294008.3	-	15	5942	c.5302C>G	c.(5302-5304)Cag>Gag	p.Q1768E	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1768	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						AGCACCTTCTGGTACAGGGCC	0.672000								Direct reversal of damage					14	32					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120650703	120650703	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:120650703A>T	ENST00000427067.2	-	2	266	c.86T>A	c.(85-87)aTt>aAt	p.I29N	ENPP2_ENST00000075322.6_Missense_Mutation_p.I33N|ENPP2_ENST00000522826.1_Missense_Mutation_p.I33N|ENPP2_ENST00000259486.6_Missense_Mutation_p.I33N			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	33					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCTCTCTTAATTCGATGTGC	0.368000													21	84					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220503588	220503588	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:220503588C>G	ENST00000358055.3	+	19	3532	c.3020C>G	c.(3019-3021)aCg>aGg	p.T1007R	SLC4A3_ENST00000273063.6_Missense_Mutation_p.T1034R|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T1034R|SLC4A3_ENST00000373760.2_Missense_Mutation_p.T1007R|SLC4A3_ENST00000317151.3_Missense_Mutation_p.T1007R			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1007	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACAGATCACGGCGTGAGAG	0.597000													3	6					0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73518705	73518705	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:73518705G>T	ENST00000436467.2	-	2	1728	c.1341C>A	c.(1339-1341)ttC>ttA	p.F447L	EGR4_ENST00000545030.1_Missense_Mutation_p.F550L			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	446						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCTGCGCGCGAAGCGGCGGC	0.667000													20	13					1.2644e-06	1.3427e-06	1	1	0
PALB2	79728	broad.mit.edu	37	16	23647174	23647174	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:23647174T>A	ENST00000261584.4	-	4	845	c.693A>T	c.(691-693)aaA>aaT	p.K231N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	231	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TATCAACACCTTTTTCTGGTT	0.398000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks					58	132					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56484601	56484601	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:56484601C>G	ENST00000370765.6	-	23	4338	c.4231G>C	c.(4231-4233)Gat>Cat	p.D1411H	DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5072					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTGTTTCATCTAGTTTATCT	0.428000													28	93					0	0	1	0	0
COA5	493753	broad.mit.edu	37	2	99224806	99224806	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:99224806C>T	ENST00000328709.3	-	1	149	c.63G>A	c.(61-63)ctG>ctA	p.L21L	COA5_ENST00000409997.1_Silent_p.L21L|COA5_ENST00000483527.1_5'UTR	NM_001008215.2	NP_001008216.1	Q86WW8	COA5_HUMAN	cytochrome c oxidase assembly factor 5	21																	GACACGCGCCCAGGTCCTCCT	0.697000													6	5					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125107171	125107171	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:125107171C>T	ENST00000522917.1	+	35	4793	c.4587C>T	c.(4585-4587)ctC>ctT	p.L1529L	FER1L6_ENST00000399018.1_Silent_p.L1529L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1529						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACCTGGCCCTCAAGGTTTTAC	0.502000													36	80					0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82276014	82276014	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:82276014G>C	ENST00000429989.3	+	8	899	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	TSPAN14_ENST00000341863.6_Missense_Mutation_p.E169Q|TSPAN14_ENST00000372156.1_Missense_Mutation_p.E226Q|TSPAN14_ENST00000265450.5_3'UTR|TSPAN14_ENST00000372164.3_Missense_Mutation_p.E209Q|TSPAN14_ENST00000372158.1_Missense_Mutation_p.E226Q|TSPAN14_ENST00000481124.1_Missense_Mutation_p.E103Q	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			CCAGGCGCTGGAAAGCTGGCT	0.567000													19	32					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140086970	140086970	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140086970G>A	ENST00000409012.4	-	2	1985	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	TPRN_ENST00000321773.2_Silent_p.F572F	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	633					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						CCCGGGGCAGGAAGAGTGCAA	0.642000													8	3					0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54965839	54965839	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:54965839A>G	ENST00000326764.5	+	6	1136	c.657A>G	c.(655-657)caA>caG	p.Q219Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	182							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGAAGGGCCAACAGCTGTGGA	0.652000													3	6					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122817458	122817458	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:122817458A>G	ENST00000227349.2	+	6	2184	c.1887A>G	c.(1885-1887)caA>caG	p.Q629Q	C11orf63_ENST00000531316.1_Silent_p.Q629Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	629										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)		ATCTGTTTCAACTGGAAAAGG	0.388000													32	95					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73680906	73680906	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:73680906G>A	ENST00000264448.6	+	8	7360	c.7249G>A	c.(7249-7251)Gat>Aat	p.D2417N	ALMS1_ENST00000377715.1_Missense_Mutation_p.D2417N|ALMS1_ENST00000409009.1_Missense_Mutation_p.D2375N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2417					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTCAAGTAGTGATGCCAGTGA	0.383000													32	74					0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29912852	29912852	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr16:29912852C>A	ENST00000308748.5	+	1	812	c.560C>A	c.(559-561)cCa>cAa	p.P187Q	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	187	Gly-rich.				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						ATTCAGCGCCCAGGCCTGCTT	0.672000													28	75					1.5548e-18	1.78628e-18	1	1	0
ASXL2	55252	broad.mit.edu	37	2	25966085	25966085	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:25966085C>A	ENST00000435504.4	-	13	3414	c.3121G>T	c.(3121-3123)Gct>Tct	p.A1041S	ASXL2_ENST00000336112.4_Missense_Mutation_p.A1013S|ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1041					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCTCCTTAGCTGAAAAGAGC	0.512000													28	15					2.44723e-14	2.75686e-14	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25415982	25415982	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:25415982A>G	ENST00000315368.3	+	23	1802	c.1660A>G	c.(1660-1662)Att>Gtt	p.I554V	ANAPC4_ENST00000510092.1_Missense_Mutation_p.I555V	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	554					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCAATCTGTATTCCATTGTA	0.294000													35	5					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19387801	19387801	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:19387801G>A	ENST00000247001.5	-	13	2213	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	622					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCCTCTTGCGGAACGCCTCAT	0.642000													15	13					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086905	9086905	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:9086905C>A	ENST00000397910.4	-	1	5113	c.4910G>T	c.(4909-4911)gGg>gTg	p.G1637V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1637	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						ACTACTGCTCCCTGTTGTTGT	0.498000													33	106					9.78485e-24	1.14984e-23	1	1	0
SKIV2L2	23517	broad.mit.edu	37	5	54624598	54624598	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:54624598A>G	ENST00000230640.5	+	5	728	c.474A>G	c.(472-474)ctA>ctG	p.L158L	SKIV2L2_ENST00000545714.1_Silent_p.L57L	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	158	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AGTCTGTTCTAGTATCTGCAC	0.358000													30	70					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123477480	123477480	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:123477480G>A	ENST00000529750.1	+	10	1385	c.1058G>A	c.(1057-1059)aGt>aAt	p.S353N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.S353N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.S360N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	353						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACTGAGCTCAGTGACTCTTCC	0.498000													34	10					0	0	1	0	0
RNMTL1	55178	broad.mit.edu	37	17	691331	691331	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:691331C>A	ENST00000304478.4	+	3	792	c.686C>A	c.(685-687)tCt>tAt	p.S229Y		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	229					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		ATTCTGAGATCTGCAGCTGGG	0.493000													31	38					3.80469e-20	4.44842e-20	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43270081	43270081	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:43270081G>A	ENST00000372585.5	+	8	1300	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC22A7_ENST00000372589.3_Missense_Mutation_p.R400H|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R400H	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	402						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TACGCAGGACGCCGCCTCACG	0.642000													17	4					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115805027	115805027	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:115805027G>C	ENST00000374227.3	-	4	1898	c.1871C>G	c.(1870-1872)tCa>tGa	p.S624*	ZFP37_ENST00000553380.1_Nonsense_Mutation_p.S639*|ZFP37_ENST00000555206.1_Nonsense_Mutation_p.S625*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	624						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTTATCTTCTGAATGAGTTTT	0.338000													35	8					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117728213	117728213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:117728213G>A	ENST00000317775.6	-	4	1556	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	NOS1_ENST00000338101.4_Nonsense_Mutation_p.Q291*|NOS1_ENST00000344089.3_Silent_p.N309N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	291					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			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)	GTGGGGGACTGTTTTCCTGAG	0.557000													15	38					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224383	172224383	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:172224383C>T	ENST00000241261.2	-	5	867	c.745G>A	c.(745-747)Gag>Aag	p.E249K	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	249					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TCCTTAAGCTCAAATATTCCC	0.363000													26	99					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43242385	43242385	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:43242385C>A	ENST00000422911.1	-	16	2042	c.1941G>T	c.(1939-1941)gcG>gcT	p.A647A	PRDM15_ENST00000269844.3_Silent_p.A956A|PRDM15_ENST00000538201.1_Silent_p.A610A|PRDM15_ENST00000447207.2_Silent_p.A590A|PRDM15_ENST00000398548.1_Silent_p.A627A	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	956					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CATCCATCAACGCGATGTCCT	0.532000													18	61					8.00594e-06	8.4629e-06	1	1	0
NPL	80896	broad.mit.edu	37	1	182787771	182787771	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:182787771T>G	ENST00000367554.3	+	7	814	c.496T>G	c.(496-498)Tgt>Ggt	p.C166G	NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367552.2_Missense_Mutation_p.C185G|NPL_ENST00000367553.1_Missense_Mutation_p.C185G|NPL_ENST00000258317.2_Missense_Mutation_p.C185G|NPL_ENST00000367555.1_Missense_Mutation_p.C185G	NM_001200050.1	NP_001186979.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	185					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						CTTCGGGCAATGTGTTGATCA	0.488000													16	51					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877827	38877827	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:38877827C>G	ENST00000339659.4	+	9	2924	c.1454C>G	c.(1453-1455)tCt>tGt	p.S485C	DYRK1A_ENST00000451934.1_Missense_Mutation_p.S494C|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S494C|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S494C|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S494C|DYRK1A_ENST00000455387.2_Missense_Mutation_p.S266C|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S494C	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AATAGTGTATCTACAAGCCCC	0.463000													22	74					0	0	1	0	0
TMEM203	94107	broad.mit.edu	37	9	140099778	140099778	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140099778G>A	ENST00000343666.5	-	1	312	c.89C>T	c.(88-90)tCt>tTt	p.S30F	TMEM203_ENST00000537254.1_Missense_Mutation_p.S30F	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	30						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CAGCAGCACAGAGAACACCAA	0.632000													8	5					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37634915	37634915	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:37634915G>A	ENST00000252011.3	+	12	1171	c.1138G>A	c.(1138-1140)Gtg>Atg	p.V380M	DHX35_ENST00000373325.2_Missense_Mutation_p.V380M|DHX35_ENST00000373323.4_Missense_Mutation_p.V349M	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	380	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTTGGTGGTGGTGCCAGTCTC	0.507000													58	142					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116927435	116927435	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:116927435C>A	ENST00000537345.1	+	3	517	c.154C>A	c.(154-156)Cat>Aat	p.H52N	ATP1A1_ENST00000369496.4_Missense_Mutation_p.H21N|ATP1A1_ENST00000295598.5_Missense_Mutation_p.H52N	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	52					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	TGATGAACTTCATCGTAAATA	0.318000													39	66					2.52991e-16	2.89937e-16	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817777	77817777	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:77817777C>G	ENST00000334306.2	-	1	1225	c.1226G>C	c.(1225-1227)aGc>aCc	p.S409T		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	409																	GGGCCCACTGCTGCTCTCCTC	0.572000													16	25					0	0	1	0	0
TRBV7-1	28597	broad.mit.edu	37	7	142032448	142032448	+	RNA	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:142032448G>A	ENST00000547918.2	+	0	301																											ACAGAGGTCTGAGGGATCCAT	0.577000													13	20					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44922688	44922688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:44922688C>T	ENST00000377967.4	+	16	1590	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q524*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q472*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q438*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	517					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGGAGTTGCACAGGTACGATC	0.448000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								55	72					0	0	1	0	0
TEAD4	7004	broad.mit.edu	37	12	3104097	3104097	+	Silent	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:3104097C>A	ENST00000359864.2	+	3	355	c.165C>A	c.(163-165)ctC>ctA	p.L55L	TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Silent_p.L55L	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	55					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			AGGAGGCCCTCGCCATCTACC	0.622000													22	131					1.96895e-08	2.12499e-08	1	1	0
APOB	338	broad.mit.edu	37	2	21229014	21229014	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:21229014G>T	ENST00000233242.1	-	26	10853	c.10726C>A	c.(10726-10728)Ctc>Atc	p.L3576I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3576					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			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)	GTGAAAAAGAGGCCCTCTAGC	0.473000													58	10					3.37043e-27	3.98089e-27	1	1	0
LOC101927958	101927958	broad.mit.edu	37	2	239141693	239141693	+	RNA	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:239141693A>G	ENST00000456601.1	+	0	906																											ATACATATGTACTAAGAATTT	0.313000													10	1					0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18111582	18111582	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:18111582C>G	ENST00000399138.4	+	4	1062	c.1057C>G	c.(1057-1059)Ctg>Gtg	p.L353V	ALKBH5_ENST00000541285.1_Missense_Mutation_p.L12V	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	353						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CTCGGTGCTGCTGCCCACACA	0.622000													16	57					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75119126	75119126	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:75119126G>A	ENST00000395018.4	+	1	239	c.82G>A	c.(82-84)Gat>Aat	p.D28N	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	28						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GGATAAGGGAGATGGGGACAA	0.622000													13	7					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33127546	33127546	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:33127546G>T	ENST00000323959.4	-	6	560	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	CSTF3_ENST00000524827.1_Missense_Mutation_p.Q173K	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	141					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AACTCTACCTGATAGGACATA	0.289000													12	4					5.50884e-06	5.83659e-06	1	1	0
C2orf78	388960	broad.mit.edu	37	2	74043982	74043982	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:74043982G>A	ENST00000409561.1	+	3	2753	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	878										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCAGAGGCCAGAGCGTGAGGC	0.493000													17	18					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058288	11058288	+	RNA	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr21:11058288G>A	ENST00000470054.1	-	0	359									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACAGCATTTGATAGTGGCTC	0.403000													7	230					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740460	37740460	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:37740460G>A	ENST00000539465.1	+	15	2528	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	FRMPD1_ENST00000377765.3_Silent_p.E645E|FRMPD1_ENST00000541302.1_Silent_p.E514E|FRMPD1_ENST00000536622.1_Silent_p.E467E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	645						cytoskeleton|cytosol|plasma membrane				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)		ACAGCCAGGAGGAGAGAAGCG	0.577000													8	45					0	0	1	0	0
FXYD6	53826	broad.mit.edu	37	11	117710495	117710495	+	Splice_Site	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:117710495C>A	ENST00000526014.1	-	7	905		c.e7+1		FXYD6_ENST00000540359.1_Splice_Site|FXYD6_ENST00000260282.4_Splice_Site|FXYD6_ENST00000527429.1_3'UTR|FXYD6_ENST00000530956.1_3'UTR|FXYD6-FXYD2_ENST00000532984.1_Splice_Site|FXYD6_ENST00000584394.1_Splice_Site|FXYD6_ENST00000583233.1_Splice_Site|FXYD6_ENST00000529335.2_Splice_Site|FXYD6_ENST00000527717.1_Splice_Site|FXYD6_ENST00000524656.1_Splice_Site|FXYD6_ENST00000539526.1_Splice_Site	NM_022003.3	NP_071286.1			FXYD domain containing ion transport regulator 6											central_nervous_system(1)|large_intestine(5)|lung(1)|skin(1)	8	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.89e-05)|Epithelial(105;0.00122)		GAGCATCTCACCTTCCACCTG	0.547000													25	73					1.68575e-08	1.82361e-08	1	1	0
NOS1	4842	broad.mit.edu	37	12	117662863	117662863	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:117662863G>A	ENST00000317775.6	-	25	4469	c.3784C>T	c.(3784-3786)Cga>Tga	p.R1262*	NOS1_ENST00000338101.4_Nonsense_Mutation_p.R1296*|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1262					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.R1262*(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)	CAGAAGCTTCGGAAAGGGGCA	0.617000													30	89					0	0	1	0	0
SART3	9733	broad.mit.edu	37	12	108917337	108917337	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:108917337G>C	ENST00000228284.3	-	19	3023	c.2789C>G	c.(2788-2790)gCt>gGt	p.A930G	SART3_ENST00000431469.2_Missense_Mutation_p.A894G	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	930					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCCGTTCTCAGCCTGAGGAGC	0.607000									Porokeratosis				52	10					0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76045641	76045641	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:76045641A>G	ENST00000238667.4	+	1	682	c.326A>G	c.(325-327)aAt>aGt	p.N109S	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	109					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGCTCCATCAATAACATCTTC	0.537000													20	14					0	0	1	0	0
ARHGAP19-SLIT1	100533184	broad.mit.edu	37	10	98989613	98989613	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:98989613G>T	ENST00000453547.2	-	10	1302	c.1303C>A	c.(1303-1305)Cag>Aag	p.Q435K	ARHGAP19_ENST00000358531.4_Missense_Mutation_p.Q435K|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.Q426K|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.Q435K|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.Q426K|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.Q406K|ARHGAP19_ENST00000487035.1_5'UTR																							GACATCATCTGATTTCCCAGG	0.383000													21	14					1.50039e-11	1.66192e-11	1	1	0
ZBTB17	7709	broad.mit.edu	37	1	16270340	16270340	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:16270340G>A	ENST00000375733.2	-	10	1660	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	ZBTB17_ENST00000375743.4_Silent_p.L474L|ZBTB17_ENST00000537142.1_Silent_p.L392L|ZBTB17_ENST00000448462.2_3'UTR			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	474					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACTTGAGGGGCCCGT	0.692000													5	15					0	0	1	0	0
NKX2-3	159296	broad.mit.edu	37	10	101294755	101294755	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:101294755G>A	ENST00000344586.7	+	2	571	c.372G>A	c.(370-372)ctG>ctA	p.L124L		NM_145285.2	NP_660328.2	Q8TAU0	NKX23_HUMAN	NK2 homeobox 3	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GCTGCCAGCTGAAGAAGTCTC	0.642000													5	0					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8211912	8211912	+	Silent	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:8211912G>C	ENST00000307637.4	-	2	1073	c.870C>G	c.(868-870)ctC>ctG	p.L290L		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	290					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AATGAGTAGAGAGAAAAGCAT	0.423000													47	7					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156396354	156396354	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:156396354G>A	ENST00000461166.1	+	2	1456	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TIPARP_ENST00000295924.7_Missense_Mutation_p.E290K|TIPARP_ENST00000486483.1_Missense_Mutation_p.E290K|TIPARP_ENST00000542783.1_Missense_Mutation_p.E290K	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	290							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.E290K(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAGCACTTGGAAAGATTTTA	0.363000													40	22					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	996418	996418	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:996418G>C	ENST00000537687.1	+	20	6735	c.6092G>C	c.(6091-6093)gGt>gCt	p.G2031A	WNK1_ENST00000535572.1_Missense_Mutation_p.G1524A|WNK1_ENST00000340908.4_Missense_Mutation_p.G1364A|WNK1_ENST00000315939.6_Missense_Mutation_p.G1771A|WNK1_ENST00000530271.2_Missense_Mutation_p.G2269A	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1771					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTCCAGCAGGTACTCTACCC	0.483000													46	12					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105361888	105361888	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:105361888C>T	ENST00000369774.4	-	15	3363	c.3087G>A	c.(3085-3087)aaG>aaA	p.K1029K	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Silent_p.K864K|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.K1001K|SH3PXD2A_ENST00000540321.1_Silent_p.K896K			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1029					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCAGGCGGCCCTTGGCCTCGG	0.687000													17	37					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74886448	74886448	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:74886448A>G	ENST00000357321.4	+	8	839	c.721A>G	c.(721-723)Acc>Gcc	p.T241A	NUDT13_ENST00000372997.3_Silent_p.R203R|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000349051.5_Intron|NUDT13_ENST00000544879.1_Missense_Mutation_p.T115A|NUDT13_ENST00000537969.1_Missense_Mutation_p.T44A	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	241	Nudix hydrolase.						hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TGTGGAAGAGACCATCCGCCG	0.507000													26	33					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276080	100276080	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:100276080C>T	ENST00000303210.4	+	9	1241	c.759C>T	c.(757-759)ttC>ttT	p.F253F	GNB2_ENST00000427895.1_Silent_p.F153F|GNB2_ENST00000436220.1_Silent_p.F209F|GNB2_ENST00000419828.1_Silent_p.F153F|GNB2_ENST00000424361.1_Silent_p.F209F|GNB2_ENST00000393926.1_Silent_p.F253F|GNB2_ENST00000393924.1_Silent_p.F253F	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	253					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GCCGCCTCTTCGACCTGCGGG	0.632000													14	21					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67976690	67976690	+	Silent	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:67976690A>G	ENST00000262210.5	+	1	88	c.57A>G	c.(55-57)ctA>ctG	p.L19L	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000517736.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	19						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACGATCCTCTAGAGCACTGTG	0.692000											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	15					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88726689	88726689	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr15:88726689G>C	ENST00000394480.2	-	5	676	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	NTRK3_ENST00000317501.3_Missense_Mutation_p.Q119E|NTRK3_ENST00000540489.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q119E|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q21E|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q119E|NTRK3_ENST00000558676.1_Missense_Mutation_p.Q119E	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCTCTGGGCTGAATGCTCCGA	0.537000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			66	12					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17786071	17786071	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:17786071G>A	ENST00000581396.1	-	5	554	c.458C>T	c.(457-459)cCg>cTg	p.P153L	TOM1L2_ENST00000540946.1_Intron|TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P158L|TOM1L2_ENST00000379504.3_Missense_Mutation_p.P203L|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P158L|TOM1L2_ENST00000535933.1_Intron	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	203					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGGGGCCTGCGGTGCGGAGTA	0.582000													18	49					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57322055	57322055	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:57322055G>A	ENST00000287156.4	-	3	360	c.165C>T	c.(163-165)atC>atT	p.I55I	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	55					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						GCGGGAAGCTGATGCGCAGGT	0.547000													45	8					0	0	1	0	0
DRAM2	128338	broad.mit.edu	37	1	111663143	111663143	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:111663143A>T	ENST00000286692.4	-	6	1129	c.512T>A	c.(511-513)cTt>cAt	p.L171H	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.L171H			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	171					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						GATACTGCTAAGTGCACTTAC	0.408000													11	17					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140076208	140076208	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140076208C>G	ENST00000323927.2	-	7	1397	c.1393G>C	c.(1393-1395)Gag>Cag	p.E465Q		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	465					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGGCCTGTCTCCAGGCTCGCC	0.652000													17	14					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10476224	10476224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:10476224C>T	ENST00000525621.1	-	7	1461	c.980G>A	c.(979-981)tGg>tAg	p.W327*	TYK2_ENST00000264818.6_Nonsense_Mutation_p.W327*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.W327*|TYK2_ENST00000524462.1_Nonsense_Mutation_p.W142*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	327	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CTCTACTGGCCACCACTGGAT	0.652000													13	60					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79128500	79128500	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:79128500G>A	ENST00000370747.4	+	8	1310	c.1225G>A	c.(1225-1227)Gct>Act	p.A409T	IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	409					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AATTCTTTCTGCTCTGAGACG	0.453000													42	39					0	0	1	0	0
LMO2	4005	broad.mit.edu	37	11	33886238	33886238	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:33886238C>A	ENST00000257818.2	-	5	1203	c.374G>T	c.(373-375)aGc>aTc	p.S125I	LMO2_ENST00000395833.3_Missense_Mutation_p.S56I	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	56	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						GAGGTCGCAGCTCAGGCAGTC	0.642000			T	TRD@	T-ALL								13	5					2.27111e-07	2.43408e-07	1	1	0
SNX2	6643	broad.mit.edu	37	5	122163324	122163324	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr5:122163324G>A	ENST00000379516.2	+	14	1600	c.1492G>A	c.(1492-1494)Gtt>Att	p.V498I	SNX2_ENST00000510372.1_3'UTR|SNX2_ENST00000514949.1_Missense_Mutation_p.V381I	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2	498					cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		AGAATCACTAGTTCAAACACA	0.279000													16	42					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60697761	60697761	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:60697761G>C	ENST00000253001.4	+	1	245	c.39G>C	c.(37-39)aaG>aaC	p.K13N	LSM14B_ENST00000370915.1_Missense_Mutation_p.K13N|LSM14B_ENST00000279068.6_Missense_Mutation_p.K13N			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	13					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TGGGCAGCAAGATCAGCCTCA	0.706000													21	31					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760729	186760729	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:186760729A>G	ENST00000169298.3	+	4	912	c.238A>G	c.(238-240)Agt>Ggt	p.S80G	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.S80G	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	80					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GACCCTCGGCAGTCTCAGAGG	0.567000													15	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437888	179437888	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:179437888G>T	ENST00000589042.1	-	326	73195	c.72971C>A	c.(72970-72972)cCt>cAt	p.P24324H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P15259H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384H|TTN_ENST00000591111.1_Missense_Mutation_p.P22683H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21756H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22683	Fibronectin type-III 76.						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)			TGGTGGTCCAGGTTTAAACAC	0.433000													22	45					4.35082e-09	4.75101e-09	1	1	0
PSMA6	5687	broad.mit.edu	37	14	35782199	35782199	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr14:35782199G>C	ENST00000261479.4	+	5	642	c.522G>C	c.(520-522)gaG>gaC	p.E174D	PSMA6_ENST00000555764.1_Missense_Mutation_p.E95D|PSMA6_ENST00000540871.1_Missense_Mutation_p.E155D|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000553809.1_Missense_Mutation_p.E180D|PSMA6_ENST00000556506.1_Missense_Mutation_p.E174D	NM_002791.1	NP_002782.1	P60900	PSA6_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 6	174					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		AACAAACTGAGTCAACCAGCT	0.403000													36	264					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53139904	53139904	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr6:53139904C>A	ENST00000542638.1	-	5	927	c.480G>T	c.(478-480)tgG>tgT	p.W160C	ELOVL5_ENST00000304434.6_Missense_Mutation_p.W160C|ELOVL5_ENST00000370918.4_Missense_Mutation_p.W150C|ELOVL5_ENST00000541407.1_Missense_Mutation_p.W187C			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	160					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CGCAGGGGACCCAGTTCATCA	0.517000													5	34					0.217242	0.217712	1	1	0
TMEM203	94107	broad.mit.edu	37	9	140099690	140099690	+	Silent	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr9:140099690G>A	ENST00000343666.5	-	1	400	c.177C>T	c.(175-177)ctC>ctT	p.L59L	TMEM203_ENST00000537254.1_Silent_p.L59L	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	59						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGTAGGTGCTGAGCCCGTCAG	0.617000													29	12					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111883853	111883853	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr10:111883853G>A	ENST00000277900.8	+	10	1587	c.1222G>A	c.(1222-1224)Gca>Aca	p.A408T	ADD3_ENST00000360162.3_Missense_Mutation_p.A408T|ADD3_ENST00000356080.4_Missense_Mutation_p.A408T	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	408						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GGAAATCCCAGCAACTGTGAC	0.473000													38	29					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183673081	183673081	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr4:183673081A>T	ENST00000511685.1	+	20	3881	c.3758A>T	c.(3757-3759)aAt>aTt	p.N1253I	TENM3_ENST00000406950.2_Missense_Mutation_p.N1253I|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TTGACTAAAAATGCAGAAGTC	0.542000													14	10					0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32598719	32598719	+	Nonsense_Mutation	SNP	C	C	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:32598719C>G	ENST00000394630.3	+	2	147	c.80C>G	c.(79-81)tCa>tGa	p.S27*	CCL7_ENST00000394627.1_3'UTR|CCL7_ENST00000200307.4_Missense_Mutation_p.F76L|CCL7_ENST00000378569.2_Missense_Mutation_p.F66L			P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	0					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TCCACAGCTTCAAGACCAAAC	0.502000													31	9					0	0	1	0	0
GSS	2937	broad.mit.edu	37	20	33523396	33523396	+	Missense_Mutation	SNP	G	G	A	rs144955088		TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr20:33523396G>A	ENST00000216951.2	-	9	915	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	GSS_ENST00000451957.2_Missense_Mutation_p.R162C|GSS_ENST00000541098.1_Missense_Mutation_p.R145C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	273					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CTGTACTGACGAGGCATGTAG	0.473000													27	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179505354	179505354	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:179505354G>A	ENST00000589042.1	-	221	40861	c.40637C>T	c.(40636-40638)cCa>cTa	p.P13546L	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P4481L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4606L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11905L|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10978L|TTN_ENST00000342175.6_Missense_Mutation_p.P4673L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11905	Ig-like 91.						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)			TGGTGGTTCTGGTACTTTAAG	0.333000													20	55					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37826491	37826491	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:37826491C>A	ENST00000264741.5	+	26	3067	c.2811C>A	c.(2809-2811)ttC>ttA	p.F937L	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	937					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCATCCAGTTCATGTCCCGCG	0.522000													24	26					3.6726e-16	4.19856e-16	1	1	0
AVPR1A	552	broad.mit.edu	37	12	63544067	63544067	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:63544067G>T	ENST00000299178.2	-	1	655	c.550C>A	c.(550-552)Ccg>Acg	p.P184T		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	184					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGTACTGCGGCGTGCTCAGC	0.647000													12	74					1.5842e-08	1.71776e-08	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150934492	150934492	+	Silent	SNP	C	C	T			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:150934492C>T	ENST00000035307.2	+	4	2557	c.1044C>T	c.(1042-1044)ccC>ccT	p.P348P	CHPF2_ENST00000495645.1_Silent_p.P340P	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	348						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627000													15	46					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112150	248112161	+	Translation_Start_Site	DEL	GGAATGCTCCAT	GGAATGCTCCAT	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr1:248112150_248112161delGGAATGCTCCAT	ENST00000357191.3	+	0	0_2				OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGGATTGTAGGAATGCTCCATGGAAAATTAC	0.406													16	50	---	---	---	---					
CPSF3	51692	broad.mit.edu	37	2	9574077	9574094	+	Splice_Site	DEL	TATTCTTATCATTGTAAG	TATTCTTATCATTGTAAG	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:9574077_9574094delTATTCTTATCATTGTAAG	ENST00000460593.1	+	6	1624_1636	c.486_498delTATTCTTATCATTGTAAG	c.(484-498)gatattcttatcatt>ga	p.DILII162del	CPSF3_ENST00000238112.3_Splice_Site_p.DILII199del			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	199					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.L201F(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTAAGCCTGATATTCTTATCATTGTAAGTATTAATATA	0.275													21	89	---	---	---	---					
REL	5966	broad.mit.edu	37	2	61145592	61145628	+	Frame_Shift_Del	DEL	ATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC	ATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:61145592_61145628delATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC	ENST00000295025.8	+	7	1024_1060	c.704_740delATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCC	c.(703-741)gatgtacaccgtcaagtagccattgttttcaaaactccafs	p.DVHRQVAIVFKTP235fs	REL_ENST00000394479.3_Frame_Shift_Del_p.DVHRQVAIVFKTP235fs	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog		RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCACAAGCTGATGTACACCGTCAAGTAGCCATTGTTTTCAAAACTCCACCATATTGC	0.376			A		Hodgkin Lymphoma								9	125	---	---	---	---					
NEUROD1	4760	broad.mit.edu	37	2	182542570	182542570	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr2:182542570delA	ENST00000295108.3	-	2	1475	c.1018delT	c.(1018-1020)tcafs	p.S340fs	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	340					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCATGATGTGAATGGCTATCG	0.522													52	52	---	---	---	---					
SEC61A1	29927	broad.mit.edu	37	3	127775579	127775580	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr3:127775579_127775580insTA	ENST00000243253.3	+	5	432_433	c.248_249insTA	c.(247-252)cctattfs	p.PI83fs	SEC61A1_ENST00000424880.2_Intron|SEC61A1_ENST00000464451.1_Frame_Shift_Ins_p.PI89fs	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	83					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GGGATCTCTCCTATTGTCACGT	0.450													21	85	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757																											TCTTCATCCCTCACCCCCCCCC	0.460													2	4	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													5	10	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92346658	92346658	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr8:92346658delC	ENST00000276609.3	+	6	1017	c.778delC	c.(778-780)cctfs	p.P260fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.P260fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.P260fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	260						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			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)			AGTTGTTCTTCCTGTAGATTT	0.363													15	15	---	---	---	---					
MEN1	4221	broad.mit.edu	37	11	64572092	64572093	+	Frame_Shift_Ins	INS	-	-	G			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr11:64572092_64572093insG	ENST00000337652.1	-	10	2064_2065	c.1561_1562insC	c.(1561-1563)cggfs	p.R521fs	MEN1_ENST00000394376.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394374.2_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000377321.1_Frame_Shift_Ins_p.R481fs|MEN1_ENST00000312049.6_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000315422.4_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000377326.3_Frame_Shift_Ins_p.R516fs|MEN1_ENST00000377313.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000443283.1_Frame_Shift_Ins_p.R521fs|MEN1_ENST00000377316.2_Frame_Shift_Ins_p.R461fs	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	521					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R516fs*15(3)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGAGGCTTCCGGGGGGGTCCT	0.713			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				8	7	---	---	---	---					
KNTC1	9735	broad.mit.edu	37	12	123035910	123035913	+	Splice_Site	DEL	GTAG	GTAG	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr12:123035910_123035913delGTAG	ENST00000333479.7	+	14	1307		c.e14+1		KNTC1_ENST00000450485.2_Splice_Site	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1						cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		ATGATCCAAAGTAGGTCATGTTTT	0.260													16	27	---	---	---	---					
AOC3	8639	broad.mit.edu	37	17	41007535	41007535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr17:41007535delG	ENST00000308423.2	+	3	2121	c.1961delG	c.(1960-1962)tggfs	p.W654fs	AOC3_ENST00000591562.1_Frame_Shift_Del_p.W111fs	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	654					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AATGACCCTTGGGCCCCCACT	0.567													5	8	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11100050	11100056	+	Frame_Shift_Del	DEL	GGCCGGG	GGCCGGG	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chr19:11100050_11100056delGGCCGGG	ENST00000358026.2	+	7	1460_1466	c.1176_1182delGGCCGGG	c.(1174-1182)ctggccgggfs	p.LAG392fs	SMARCA4_ENST00000444061.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000413806.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000344626.4_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000589677.1_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000429416.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000590574.1_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000450717.3_Frame_Shift_Del_p.LAG392fs|SMARCA4_ENST00000541122.2_Frame_Shift_Del_p.LAG392fs	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	392					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGGTCCCTGGCCGGGGATTTGCGAA	0.604			"""F, N, Mis"""		NSCLC								38	10	---	---	---	---					
PCSK1N	27344	broad.mit.edu	37	X	48690568	48690568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:48690568delC	ENST00000218230.5	-	2	398	c.298delG	c.(298-300)gatfs	p.D100fs		NM_013271.2	NP_037403.1	Q9UHG2	PCSK1_HUMAN	proprotein convertase subtilisin/kexin type 1 inhibitor	100	ProSAAS(1-180) (By similarity).				neuropeptide signaling pathway	extracellular space|soluble fraction	receptor binding										GCCTGCTGATCCTCAGCCTCC	0.766													2	4	---	---	---	---					
FGF13	2258	broad.mit.edu	37	X	137717690	137717692	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-XF-AAMX-01A-11D-A42E-08	TCGA-XF-AAMX-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4324b185-dc6d-450d-a4ef-875af7f1fcf2	b42dcdeb-8df4-47e5-854e-9c19a30b9b36	g.chrX:137717690_137717692delCTT	ENST00000315930.6	-	4	1188_1190	c.527_529delAAG	c.(526-531)gaagga>gga	p.E176del	FGF13_ENST00000305414.4_In_Frame_Del_p.E123del|FGF13_ENST00000370603.3_In_Frame_Del_p.E186del|FGF13_ENST00000441825.2_In_Frame_Del_p.E157del|FGF13_ENST00000541469.1_In_Frame_Del_p.E130del	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	176					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					ATGATCTCTCCTTCTTTGTTCAG	0.409													33	97	---	---	---	---					
