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
PPP1R26	9858	broad.mit.edu	37	9	138377481	138377481	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:138377481C>T	ENST00000356818.2	+	4	1674	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	PPP1R26_ENST00000401470.3_Silent_p.Y375Y|PPP1R26_ENST00000605660.1_Silent_p.Y375Y|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.Y375Y|PPP1R26_ENST00000605286.1_Silent_p.Y375Y	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	375						nucleolus	protein binding										TCCAGCTGTACCAGCTGCAGA	0.647000													28	29					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121106957	121106957	+	Missense_Mutation	SNP	G	G	A	rs147613754		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:121106957G>A	ENST00000295228.3	+	2	777	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	244					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CGGGGCGAGCGGCGACTCAAC	0.642000													17	115					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44672362	44672362	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:44672362C>G	ENST00000243964.3	+	10	1426	c.1328C>G	c.(1327-1329)tCt>tGt	p.S443C	SLC12A5_ENST00000454036.2_Missense_Mutation_p.S466C	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	466					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACCACCTCTGCTGTCTGT	0.612000													20	73					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53895848	53895848	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:53895848C>A	ENST00000266987.2	+	2	586	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000456234.2_Missense_Mutation_p.L14M|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000394357.2_Missense_Mutation_p.L14M	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	35	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GATCAGCCTTCTGCAGGAGTA	0.597000													13	40					5.50884e-06	5.7308e-06	1	1	0
F2	2147	broad.mit.edu	37	11	46742363	46742363	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:46742363C>G	ENST00000311907.5	+	4	345	c.289C>G	c.(289-291)Cga>Gga	p.R97G	F2_ENST00000530231.1_Missense_Mutation_p.R97G	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	97					activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GAGGACGCCTCGAGATAAGCT	0.567000													35	110					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348087	16348087	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:16348087G>A	ENST00000408042.1	-	23	4040	c.3883C>T	c.(3883-3885)Ccg>Tcg	p.P1295S	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TGTGCACCCGGAGGAGGTATG	0.433000													40	99					0	0	1	0	0
LARP6	55323	broad.mit.edu	37	15	71128682	71128682	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:71128682C>A	ENST00000299213.8	-	2	433	c.363G>T	c.(361-363)agG>agT	p.R121S		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	121	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCTTGTTCCTCCTCACGT	0.438000													9	70					4.68919e-08	4.93233e-08	1	1	0
C12orf43	64897	broad.mit.edu	37	12	121442075	121442075	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:121442075C>G	ENST00000445832.3	-	6	682	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R	C12orf43_ENST00000288757.3_Missense_Mutation_p.G224R|C12orf43_ENST00000537817.1_Missense_Mutation_p.G225R|C12orf43_ENST00000536407.2_Missense_Mutation_p.R117T|C12orf43_ENST00000539736.1_Missense_Mutation_p.G214R|C12orf43_ENST00000366211.2_Missense_Mutation_p.G183R			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	224	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTGAGCTCACCTGACTTCTGC	0.552000													30	79					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990758	51990758	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:51990758G>A	ENST00000322241.4	+	1	1429	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	364						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGGCCACCTGAGAGTTCTCT	0.647000													7	13					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22214528	22214528	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:22214528G>A	ENST00000374695.3	-	7	685	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	202	LDL-receptor class A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGCAAACTCGGCCTCCGTGC	0.612000													5	33					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239633	126239633	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:126239633C>T	ENST00000394329.3	+	1	2080	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	689	Cadherin 6.				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						GCCCTGTCTTCTACCCGGTCC	0.502000													13	78					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969828	209969828	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:209969828G>C	ENST00000367021.3	-	4	416	c.244C>G	c.(244-246)Cag>Gag	p.Q82E	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	82			Q -> K (in PPS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CAGCGCAGCTGGGCCTTCCAT	0.512000										HNSCC(57;0.16)			18	44					0	0	1	0	0
PPP5D1	100506012	broad.mit.edu	37	19	47030258	47030258	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:47030258C>T	ENST00000414155.1	-	2	389	c.159G>A	c.(157-159)caG>caA	p.Q53Q						PPP5 tetratricopeptide repeat domain containing 1																		CAAAGGCCTTCTGCTTCACGA	0.592000													6	21					0	0	1	0	0
ZNF200	7752	broad.mit.edu	37	16	3282436	3282436	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:3282436C>T	ENST00000431561.3	-	4	1063	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	ZNF200_ENST00000396870.4_Missense_Mutation_p.E151K|ZNF200_ENST00000396871.4_Missense_Mutation_p.E151K|ZNF200_ENST00000414144.2_Missense_Mutation_p.E151K|ZNF200_ENST00000396868.3_Missense_Mutation_p.E150K|ZNF200_ENST00000575948.1_Missense_Mutation_p.E151K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						AACATCATTTCCCCGACACTG	0.443000													20	99					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092201	35092201	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:35092201G>C	ENST00000378617.3	-	7	2077	c.1683C>G	c.(1681-1683)ttC>ttG	p.F561L	PIGO_ENST00000341666.3_Missense_Mutation_p.F561L|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	561					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AACTATCAGAGAAGAACACAG	0.597000													18	24					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493181	33493181	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:33493181G>A	ENST00000254260.3	-	9	1112	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	RHPN2_ENST00000400226.4_Silent_p.F208F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	359	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGATGGCAGTGAAGTAGTGGG	0.647000													15	78					0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10010224	10010224	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:10010224C>G	ENST00000228438.2	-	3	1019	c.86G>C	c.(85-87)cGa>cCa	p.R29P		NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	29						integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTGAGAATCTCGAGTTAGTTT	0.323000													12	36					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840296	153840296	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:153840296C>T	ENST00000356448.4	+	2	799	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ARHGEF26_ENST00000465817.1_Missense_Mutation_p.S172L|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S172L	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	172	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CCGGTGCCTTCGCCCACTGCA	0.692000													6	17					0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48046149	48046149	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:48046149C>T	ENST00000403359.3	-	15	1938	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	FBXO11_ENST00000402508.1_Silent_p.V538V|FBXO11_ENST00000316377.4_Silent_p.V538V|FBXO11_ENST00000434523.2_Silent_p.V46V	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	622					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)			TGCCAGTTGTCACCCAGACTC	0.403000			"""Mis, F, D"""		DLBCL								20	70					0	0	1	0	0
INTS2	57508	broad.mit.edu	37	17	59999151	59999151	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:59999151G>C	ENST00000444766.3	-	4	569	c.494C>G	c.(493-495)tCt>tGt	p.S165C	INTS2_ENST00000251334.6_Missense_Mutation_p.S157C	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	165					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAAAAGTTCAGAAGACTTGAA	0.303000													9	26					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412713	77412713	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:77412713C>G	ENST00000308488.6	-	6	1863	c.1561G>C	c.(1561-1563)Gag>Cag	p.E521Q	RSF1_ENST00000480887.1_Missense_Mutation_p.E269Q|RSF1_ENST00000360355.2_Missense_Mutation_p.E490Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	521					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTATGGATCTCTAAGACTGAT	0.383000													37	95					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10538232	10538232	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:10538232C>G	ENST00000583535.1	-	31	4368	c.4281G>C	c.(4279-4281)gaG>gaC	p.E1427D	MYH3_ENST00000226209.7_Missense_Mutation_p.E1427D	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1427					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCATCAGATCCTCCACCTCTC	0.532000													29	49					0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75654168	75654168	+	Missense_Mutation	SNP	C	C	G	rs143596497		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:75654168C>G	ENST00000307921.3	-	4	379	c.234G>C	c.(232-234)aaG>aaC	p.K78N		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	78	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						GCTTACCGTTCTTCCTCATTT	0.438000													32	106					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50779936	50779936	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:50779936G>C	ENST00000404971.1	-	10	3007	c.1668C>G	c.(1666-1668)ctC>ctG	p.L556L	NRXN1_ENST00000402717.3_Silent_p.L508L|NRXN1_ENST00000405472.3_Silent_p.L508L|NRXN1_ENST00000401669.2_Silent_p.L516L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.L516L|NRXN1_ENST00000406859.3_Silent_p.L516L	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	516	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TAAATAAGATGAGGCCATTTG	0.438000													5	99					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78430587	78430587	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:78430587G>C	ENST00000370767.1	-	9	790	c.703C>G	c.(703-705)Ctt>Gtt	p.L235V	FUBP1_ENST00000436586.2_Missense_Mutation_p.L256V|FUBP1_ENST00000370768.2_Missense_Mutation_p.L235V			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	235	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTAATCCTAAGAGGTTTGTCA	0.363000			"""F, N"""		oligodendroglioma								23	115					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1932464	1932464	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:1932464C>G	ENST00000503128.1	+	6	1729	c.1522C>G	c.(1522-1524)Ctg>Gtg	p.L508V	WHSC1_ENST00000420906.2_Missense_Mutation_p.L508V|WHSC1_ENST00000398261.1_Missense_Mutation_p.L508V|WHSC1_ENST00000382895.3_Missense_Mutation_p.L508V|WHSC1_ENST00000382892.2_Missense_Mutation_p.L508V|WHSC1_ENST00000508803.1_Missense_Mutation_p.L508V|WHSC1_ENST00000382891.5_Missense_Mutation_p.L508V|WHSC1_ENST00000514045.1_Missense_Mutation_p.L508V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	508					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CAAGTTTGCCCTGGTGGCCCC	0.522000			T	IGH@	MM								13	43					0	0	1	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782869	27782869	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:27782869G>A	ENST00000359465.4	+	1	48	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	16					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AAGGCTCCAAGAAGGCCATTA	0.463000													33	72					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68696427	68696427	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:68696427G>C	ENST00000303145.7	-	12	2031	c.1945C>G	c.(1945-1947)Ctt>Gtt	p.L649V	MDM1_ENST00000411698.2_Missense_Mutation_p.L614V|MDM1_ENST00000540418.1_Missense_Mutation_p.L369V	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	649						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGATCTCTAAGAGAGCCCTGA	0.383000													22	60					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137753271	137753271	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:137753271G>A	ENST00000314358.5	+	13	3607	c.3407G>A	c.(3406-3408)aGa>aAa	p.R1136K	KDM3B_ENST00000394866.1_Missense_Mutation_p.R792K|KDM3B_ENST00000542866.1_Missense_Mutation_p.R168K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1136					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTGTATTGAGACCTGCCGTC	0.448000													13	112					0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44057802	44057802	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:44057802G>A	ENST00000262887.5	-	5	995	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.H119Y			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	150					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGGGGGCTATGAAACCGTACA	0.612000								Other BER factors					5	48					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42262804	42262804	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:42262804C>A	ENST00000395925.3	-	2	133	c.49G>T	c.(49-51)Gag>Tag	p.E17*	GLI3_ENST00000437480.1_Nonsense_Mutation_p.E17*	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	17					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATGGAATTCTCAACTTTTTTC	0.478000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				21	64					1.96292e-10	2.09418e-10	1	1	0
USP49	25862	broad.mit.edu	37	6	41767607	41767607	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:41767607C>T	ENST00000394253.3	-	5	1960	c.1631G>A	c.(1630-1632)aGa>aAa	p.R544K	USP49_ENST00000373010.1_Missense_Mutation_p.R544K|USP49_ENST00000373009.3_Missense_Mutation_p.R544K|USP49_ENST00000373006.1_Missense_Mutation_p.R544K|USP49_ENST00000297229.2_Missense_Mutation_p.R544K			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	544					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAGGTAGTCTGTAGATCAT	0.488000													55	234					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49336023	49336023	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:49336023C>A	ENST00000351842.4	-	11	1425	c.1417G>T	c.(1417-1419)Gag>Tag	p.E473*	USP4_ENST00000265560.4_Nonsense_Mutation_p.E520*	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	520					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAGAGAGCCTCGCACAGGTCG	0.547000													19	123					2.89027e-11	3.0905e-11	1	1	0
ABCC2	1244	broad.mit.edu	37	10	101606802	101606802	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:101606802G>C	ENST00000370449.4	+	30	4344	c.4231G>C	c.(4231-4233)Gag>Cag	p.E1411Q		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1411	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GAAGGCCTTGGAGCTGGCTCA	0.522000													31	124					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68104942	68104942	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:68104942G>T	ENST00000565263.1	+	12	1235	c.741G>T	c.(739-741)tgG>tgT	p.W247C	DUS2_ENST00000432752.1_Missense_Mutation_p.W212C|DUS2_ENST00000358896.6_Missense_Mutation_p.W247C	NM_017803.3	NP_060273.1			dihydrouridine synthase 2	247																	CAGCCATGTGGAACCCATCTA	0.522000													25	57					2.48779e-11	2.66215e-11	1	1	0
NCOR1	9611	broad.mit.edu	37	17	16089949	16089949	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:16089949G>A	ENST00000268712.3	-	3	418	c.161C>T	c.(160-162)tCa>tTa	p.S54L	NCOR1_ENST00000395848.1_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.S54L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	54	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAAAGCTGTGATGCCTGACT	0.403000													7	33					0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118675341	118675341	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:118675341C>T	ENST00000320339.4	-	6	680	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	CXorf56_ENST00000536133.1_Missense_Mutation_p.E172K|CXorf56_ENST00000371594.4_Missense_Mutation_p.E186K|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	186							protein binding			cervix(1)|endometrium(2)|lung(7)	10						AGCTGTTTTTCAATCACTTTG	0.483000													36	42					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73007723	73007723	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:73007723C>T	ENST00000268057.4	+	5	353	c.312C>T	c.(310-312)ctC>ctT	p.L104L	BBS4_ENST00000539603.1_Silent_p.L92L|BBS4_ENST00000395205.2_Silent_p.L112L|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000542334.1_5'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	104	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CTGATAACCTCAAGCAGGTGG	0.483000									Bardet-Biedl syndrome				17	47					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220269486	220269486	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:220269486G>C	ENST00000366922.1	+	2	423	c.92G>C	c.(91-93)aGa>aCa	p.R31T	IARS2_ENST00000302637.5_Missense_Mutation_p.R103T			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	103					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAAAGAGAAAGAAAAGTAAAG	0.313000													19	80					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2206785	2206785	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2206785G>A	ENST00000398665.3	+	10	881	c.845G>A	c.(844-846)aGa>aAa	p.R282K		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	282						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATAAACAGTAGAAACTTGAGT	0.448000													10	83					0	0	1	0	0
NCOA5	57727	broad.mit.edu	37	20	44699147	44699147	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:44699147C>T	ENST00000290231.6	-	3	231	c.67G>A	c.(67-69)Gat>Aat	p.D23N		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	23	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CGCCTTGAATCTCGACTGTCT	0.507000													37	98					0	0	1	0	0
UBAP1	51271	broad.mit.edu	37	9	34250747	34250747	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:34250747C>T	ENST00000536252.1	+	7	1756	c.1358C>T	c.(1357-1359)tCa>tTa	p.S453L	UBAP1_ENST00000543944.1_Missense_Mutation_p.S489L|UBAP1_ENST00000297661.4_Missense_Mutation_p.S453L|UBAP1_ENST00000540348.1_Missense_Mutation_p.S453L|UBAP1_ENST00000545103.1_Missense_Mutation_p.S517L|UBAP1_ENST00000359544.2_Missense_Mutation_p.S453L|UBAP1_ENST00000379186.4_Missense_Mutation_p.S392L	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	453	UBA 2.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			CACCAGTGTTCAGAAGAAAAG	0.468000													22	33					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72139072	72139072	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:72139072C>G	ENST00000555818.1	+	9	3185	c.2837C>G	c.(2836-2838)tCa>tGa	p.S946*	SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.S421*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.S946*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.S946*	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	946					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TAGTTTGTTTCAAAAGGCTGT	0.448000													21	45					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452225	43452225	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:43452225C>T	ENST00000282388.3	-	2	1011	c.718G>A	c.(718-720)Gat>Aat	p.D240N	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	240					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D240N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TGCAACGCATCGCGCGTGCCA	0.746000													3	9					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109639402	109639402	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:109639402C>A	ENST00000338432.7	+	19	2928	c.2809C>A	c.(2809-2811)Cag>Aag	p.Q937K	ACACB_ENST00000377848.3_Missense_Mutation_p.Q937K|ACACB_ENST00000377854.5_Missense_Mutation_p.Q937K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	937	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTGAACGTTCAGGAAAGAGG	0.532000													33	93					4.74835e-14	5.151e-14	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144931608	144931608	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:144931608G>A	ENST00000529945.1	-	1	540	c.101C>T	c.(100-102)tCg>tTg	p.S34L	PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.S34L|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		CAAGACGTGCGAAAGCAGAAC	0.542000			T	PDGFRB	MPD								10	72					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905129	50905129	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:50905129C>G	ENST00000440232.2	+	4	464	c.411C>G	c.(409-411)gtC>gtG	p.V137V	POLD1_ENST00000599857.1_Silent_p.V137V|POLD1_ENST00000595904.1_Silent_p.V137V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	137					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGTTCTCTGTCTGCTGCCACA	0.711000								DNA polymerases (catalytic subunits)					9	53					0	0	1	0	0
PRELID1	27166	broad.mit.edu	37	5	176733484	176733484	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:176733484G>A	ENST00000303204.4	+	5	785	c.573G>A	c.(571-573)gaG>gaA	p.E191E	PRELID1_ENST00000503216.1_Silent_p.E180E|MXD3_ENST00000427908.2_3'UTR			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	191					immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCAAAGGAGACGGCACTGG	0.582000													3	17					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46658476	46658476	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:46658476G>A	ENST00000544460.1	+	1	2865	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	TDRD6_ENST00000316081.6_Missense_Mutation_p.E871K	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	871	Tudor 4.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AATTAGTGAAGAATTTCTGAA	0.358000													12	64					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47436657	47436657	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47436657C>G	ENST00000533076.1	+	9	1372	c.962C>G	c.(961-963)tCt>tGt	p.S321C	SLC39A13_ENST00000354884.4_Silent_p.L322L|SLC39A13_ENST00000362021.4_Silent_p.L329L|SLC39A13_ENST00000524928.1_3'UTR			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	0					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GCGGCTTTCTCTACATCGCCT	0.607000													7	16					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7614341	7614341	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:7614341C>G	ENST00000397145.2	-	12	2158	c.2053G>C	c.(2053-2055)Gaa>Caa	p.E685Q	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000298441.6_Intron	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						AAAATCTGTTCTTCCCTTCTG	0.348000													12	35					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216692	27216692	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:27216692G>A	ENST00000230582.3	+	3	319	c.304G>A	c.(304-306)Gag>Aag	p.E102K	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	102					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTAGGGGGTGAGGGCAGCCT	0.557000													17	30					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5633141	5633141	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:5633141G>A	ENST00000382361.3	+	1	688	c.574G>A	c.(574-576)Gac>Aac	p.D192N	FSCN1_ENST00000340250.6_Missense_Mutation_p.D171N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	192					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		GCAGACCGCCGACCACCGCTT	0.731000													5	28					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93756242	93756242	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:93756242G>C	ENST00000265990.6	+	24	3734	c.3426G>C	c.(3424-3426)atG>atC	p.M1142I	BTAF1_ENST00000544642.1_5'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1142					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGAAACAATGAATATTTTTT	0.433000													25	36					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145634629	145634629	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:145634629C>T	ENST00000265271.5	+	10	1734	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	RBM27_ENST00000506502.1_Missense_Mutation_p.S468F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	523					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTAACATCTGGAGATATG	0.388000													14	34					0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111588177	111588177	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:111588177C>T	ENST00000368847.4	+	4	1765	c.1412C>T	c.(1411-1413)tCt>tTt	p.S471F		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	471					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATAGAGACATCTAGAAGTAGT	0.393000													25	42					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160265889	160265889	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:160265889C>G	ENST00000241704.7	-	22	2543	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	COPA_ENST00000368069.3_Missense_Mutation_p.E781Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	772					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTAGGCTCTCAGCTTCTTCA	0.408000													23	77					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7246713	7246713	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:7246713C>T	ENST00000158762.3	+	6	566	c.360C>T	c.(358-360)ttC>ttT	p.F120F	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	120	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCGGGGTTTCCGAGAGGCTC	0.627000													19	45					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6598886	6598886	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:6598886G>A	ENST00000285599.3	+	8	1140	c.1104G>A	c.(1102-1104)ctG>ctA	p.L368L	MAN2B2_ENST00000504248.1_Silent_p.L317L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	368					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCAGCTCACTGAAGGGGCTGG	0.637000													26	98					0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109455757	109455757	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:109455757G>A	ENST00000295124.4	+	11	1383	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	CCDC138_ENST00000412964.2_Splice_Site_p.Q441Q	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	441										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTGGAGCACAGGTAATTGGTT	0.338000													28	76					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118449133	118449133	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:118449133C>T	ENST00000369443.5	-	6	880	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	GDAP2_ENST00000369442.3_Missense_Mutation_p.E211K	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AATACCTCTTCAAGATCAGAG	0.333000													26	94					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040642	107040642	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:107040642C>T	ENST00000409886.3	-	20	3868	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	RGPD3_ENST00000304514.7_Missense_Mutation_p.D1261N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1261					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGACACTATCATCCAAAGCA	0.428000													58	227					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007220	6007220	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:6007220C>G	ENST00000399933.3	-	1	567	c.568G>C	c.(568-570)Gag>Cag	p.E190Q	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E190Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	190										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AACTTCTGCTCCAGCATCATC	0.597000													27	56					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178152447	178152447	+	Silent	SNP	C	C	T	rs146853988	by1000genomes	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:178152447C>T	ENST00000335815.2	-	4	383	c.186G>A	c.(184-186)gtG>gtA	p.V62V		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	62	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACAGGGAGATCACTTTTGGTT	0.468000													11	86					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40087031	40087031	+	RNA	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:40087031G>A	ENST00000591658.1	+	0	123							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.E19K(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TTATATGGCCGAAGGCGAGCG	0.542000													5	10					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1516274	1516274	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:1516274G>C	ENST00000389470.4	-	38	5679	c.5680C>G	c.(5680-5682)Ctg>Gtg	p.L1894V	INTS1_ENST00000404767.3_Missense_Mutation_p.L1695V			Q8N201	INT1_HUMAN	integrator complex subunit 1	1695					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGGAAGTCCAGAGAGGCAGAG	0.647000													6	63					0	0	1	0	0
BAD	572	broad.mit.edu	37	11	64044410	64044410	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64044410G>C	ENST00000394531.3	-	3	323	c.293C>G	c.(292-294)tCa>tGa	p.S98*	BAD_ENST00000394532.3_Intron|BAD_ENST00000309032.3_Intron|BAD_ENST00000544785.1_Intron			Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	109					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						TTGGGCTTCTGAGTCAGCGGC	0.577000													3	6					0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96780639	96780639	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:96780639G>A	ENST00000409345.3	-	1	1345	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	420					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AGGGTTCAGTGAGCTGTTGCA	0.597000													7	34					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	4996470	4996470	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:4996470G>T	ENST00000380051.2	-	6	788	c.744C>A	c.(742-744)ttC>ttA	p.F248L	RPP40_ENST00000319533.5_Missense_Mutation_p.F225L|RPP40_ENST00000464646.1_Missense_Mutation_p.F188L	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	248					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CGACATTACTGAAGACGGCGC	0.557000													183	61					2.2229e-72	2.44692e-72	1	1	0
SLC20A1	6574	broad.mit.edu	37	2	113416425	113416425	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:113416425G>A	ENST00000272542.3	+	7	1341	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	268					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGTCCTTCTGAAAGCCCCTT	0.403000													29	56					0	0	1	0	0
IL34	146433	broad.mit.edu	37	16	70694004	70694004	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:70694004C>G	ENST00000429149.2	+	7	1198	c.643C>G	c.(643-645)Ccg>Gcg	p.P215A	IL34_ENST00000288098.2_Missense_Mutation_p.P215A|IL34_ENST00000566361.1_Missense_Mutation_p.P190A	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GCTGTACCCTCCGCCCCCGTG	0.662000													36	106					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115222927	115222927	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:115222927G>T	ENST00000369538.3	-	5	854	c.807C>A	c.(805-807)ttC>ttA	p.F269L	AMPD1_ENST00000520113.2_Missense_Mutation_p.F273L|AMPD1_ENST00000353928.6_Missense_Mutation_p.F240L	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	240					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TATCGTCTAAGAAGGTGTCCA	0.398000													27	72					2.25844e-05	2.33575e-05	1	1	0
SEC14L4	284904	broad.mit.edu	37	22	30887910	30887910	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:30887910C>A	ENST00000392772.2	-	10	937	c.660G>T	c.(658-660)gtG>gtT	p.V220V	SEC14L4_ENST00000255858.7_Silent_p.V274V|SEC14L4_ENST00000540456.1_Silent_p.V259V|SEC14L4_ENST00000381982.3_Silent_p.V274V|RP4-539M6.14_ENST00000610156.1_RNA|RP4-539M6.14_ENST00000442126.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	274	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ACTGCAGCCTCACCTGCTCGC	0.617000													8	32					5.68852e-11	6.07346e-11	1	1	0
ZNF512	84450	broad.mit.edu	37	2	27825369	27825369	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:27825369G>A	ENST00000355467.4	+	8	792	c.709G>A	c.(709-711)Gag>Aag	p.E237K	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.E160K|ZNF512_ENST00000416005.2_Missense_Mutation_p.E208K|ZNF512_ENST00000556601.1_Missense_Mutation_p.E106K|ZNF512_ENST00000379717.1_Missense_Mutation_p.E236K	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGAGCCAAGTGAGAGGGAAAG	0.448000													13	38					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39945490	39945490	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:39945490G>C	ENST00000564288.1	+	98	22756	c.21979G>C	c.(21979-21981)Gaa>Caa	p.E7327Q	MACF1_ENST00000372915.3_Missense_Mutation_p.E7197Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E5109Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E5239Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E5239Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E7364Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E5239Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5747Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7197	4 X 4 AA tandem repeats of [GS]-S-R-[AR].|C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACTAACATTGAACTTAGAGA	0.463000													13	31					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626657	107626657	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:107626657G>C	ENST00000393561.1	-	4	831	c.647C>G	c.(646-648)tCt>tGt	p.S216C	LAMB1_ENST00000393560.1_Missense_Mutation_p.S192C|LAMB1_ENST00000222399.6_Missense_Mutation_p.S192C			P07942	LAMB1_HUMAN	laminin, beta 1	192	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAATATCGAGAATCACAAAT	0.403000													18	59					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900210	101900210	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:101900210G>C	ENST00000374994.4	+	4	761	c.644G>C	c.(643-645)cGa>cCa	p.R215P	TGFBR1_ENST00000552516.1_Missense_Mutation_p.R219P|TGFBR1_ENST00000550253.1_Missense_Mutation_p.R146P|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R138P	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	215	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GGCAAAGGTCGATTTGGAGAA	0.408000													7	55					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15379772	15379772	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:15379772G>C	ENST00000263377.2	-	3	588	c.367C>G	c.(367-369)Cag>Gag	p.Q123E	BRD4_ENST00000371835.4_Missense_Mutation_p.Q123E|BRD4_ENST00000360016.5_Missense_Mutation_p.Q123E	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	123	Bromo 1.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATACATTCCTGAGCATTCCAG	0.428000			T	C15orf55	lethal midline carcinoma of young people								12	57					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157557276	157557276	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:157557276C>T	ENST00000271532.1	-	5	772	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	213	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.E213K(1)|p.E213Q(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGCTGTGTTTCACAGCTCAGG	0.498000													52	112					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870954	51870954	+	Silent	SNP	G	G	A	rs45562541	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:51870954G>A	ENST00000371497.5	+	2	1844	c.957G>A	c.(955-957)ccG>ccA	p.P319P	TSHZ2_ENST00000329613.6_Silent_p.P316P|TSHZ2_ENST00000603338.2_Silent_p.P316P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	319					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGGTCACCCCGGCTAAGAAAC	0.458000													28	108					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52256649	52256649	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:52256649C>T	ENST00000354831.7	-	30	3367	c.3178G>A	c.(3178-3180)Gat>Aat	p.D1060N	NRD1_ENST00000539524.1_Missense_Mutation_p.D928N|NRD1_ENST00000352171.7_Missense_Mutation_p.D992N|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	991					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ATCTTCTTATCAACAACTTCA	0.398000													4	28					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036141	39036141	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:39036141C>T	ENST00000167588.3	-	5	883	c.842G>A	c.(841-843)gGa>gAa	p.G281E		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	281	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AACCTCAGTTCCTTTTAATTC	0.433000													5	69					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123159370	123159370	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:123159370C>T	ENST00000264501.4	+	28	4071	c.3698C>T	c.(3697-3699)tCa>tTa	p.S1233L	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1233L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1233L			Q2LD37	K1109_HUMAN	KIAA1109	1233	Poly-Ser.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCTCTTCCTCAGAAGAGAAC	0.408000													16	46					0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444565	82444565	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:82444565G>A	ENST00000329203.3	-	1	341	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	69										large_intestine(1)|lung(2)|prostate(1)	4						CCGAGTCAATGAAGCTGAGTA	0.637000													5	10					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40434059	40434059	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:40434059G>A	ENST00000221347.6	-	2	217	c.210C>T	c.(208-210)ctC>ctT	p.L70L		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	70	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCTGGCTGAGGATGGAGA	0.567000													30	122					0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135865175	135865175	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:135865175C>T	ENST00000339463.3	+	10	1514	c.695C>T	c.(694-696)tCg>tTg	p.S232L	GFI1B_ENST00000372124.1_Missense_Mutation_p.S186L|GFI1B_ENST00000534944.1_Missense_Mutation_p.S186L|GFI1B_ENST00000450530.1_Missense_Mutation_p.S232L|GFI1B_ENST00000372123.1_Missense_Mutation_p.S186L|GFI1B_ENST00000372122.1_Missense_Mutation_p.S232L			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	232	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TTCAAGCGCTCGTCCACGCTG	0.647000													4	26					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10675657	10675657	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:10675657C>T	ENST00000312962.6	-	3	259	c.240G>A	c.(238-240)aaG>aaA	p.K80K	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.K76K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	80										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGTCCTTCTTCTTCAACAAGG	0.488000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	45					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26380432	26380432	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:26380432C>G	ENST00000374272.3	-	8	1141	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	335						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCTTCTTCAATGAATTCT	0.438000													12	48					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110445442	110445442	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:110445442G>A	ENST00000378402.5	+	28	3441	c.3337G>A	c.(3337-3339)Gat>Aat	p.D1113N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1113	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTTCTGTGGATGGTAGGTC	0.368000										HNSCC(38;0.096)			21	138					0	0	1	0	0
CGB1	114335	broad.mit.edu	37	19	49539429	49539429	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:49539429G>A	ENST00000301407.7	-	2	245	c.141C>T	c.(139-141)gtC>gtT	p.V47V	CTB-60B18.6_ENST00000591656.1_Intron|CGB1_ENST00000391869.3_Silent_p.V47V	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	79						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TGGTGGTGTTGACGGTGATGC	0.692000													14	56					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35443741	35443741	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:35443741G>T	ENST00000338863.7	-	10	1082	c.855C>A	c.(853-855)ctC>ctA	p.L285L	TEAD3_ENST00000402886.3_Silent_p.L225L	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	285	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCTTCTCATAGAGCTCCTTCA	0.582000													11	25					1.08611e-07	1.13905e-07	1	1	0
RNF157	114804	broad.mit.edu	37	17	74158008	74158008	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:74158008G>A	ENST00000269391.6	-	10	1000	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	RNF157_ENST00000319945.6_Silent_p.L290L	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	290							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CGACAGGGCAGAATCAAGGTG	0.582000													5	94					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16271205	16271205	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:16271205C>G	ENST00000375733.2	-	8	1295	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.E271Q|ZBTB17_ENST00000448462.2_Missense_Mutation_p.E290Q|ZBTB17_ENST00000375743.4_Missense_Mutation_p.E353Q			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	353					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)		TGCGTCTTCTCATGGGCCTTG	0.682000													9	28					0	0	1	0	0
BIK	638	broad.mit.edu	37	22	43524574	43524574	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:43524574C>T	ENST00000216115.2	+	4	396	c.333C>T	c.(331-333)ttC>ttT	p.F111F		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	111					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				TGGACGGTTTCACCACACTTA	0.527000													32	71					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220353257	220353257	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:220353257C>T	ENST00000312358.7	+	33	8028	c.7896C>T	c.(7894-7896)atC>atT	p.I2632I	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2632	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CAGTGATCATCGTGTCCTGCA	0.632000													7	61					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573007	140573007	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140573007C>G	ENST00000239446.4	+	1	1066	c.882C>G	c.(880-882)atC>atG	p.I294M		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		294	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTTTCAAATCAATCCTTTTT	0.368000													12	71					0	0	1	0	0
ATP5H	10476	broad.mit.edu	37	17	73035050	73035050	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:73035050G>A	ENST00000301587.4	-	6	510	c.463C>T	c.(463-465)Cac>Tac	p.H155Y	KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Missense_Mutation_p.H131Y|KCTD2_ENST00000584767.1_Intron	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	155					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATTGGTTGGTGAGGCCAATAG	0.363000													13	67					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87406997	87406997	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:87406997C>G	ENST00000327946.7	-	13	2240	c.2155G>C	c.(2155-2157)Gac>Cac	p.D719H	GRID1_ENST00000536331.1_Missense_Mutation_p.D290H|RP11-93H12.4_ENST00000474115.2_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	719						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ACGCAGTTGTCAGCCCCTCCG	0.607000										Multiple Myeloma(13;0.14)			80	182					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232615	5232615	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:5232615C>G	ENST00000274181.7	+	12	1974	c.1836C>G	c.(1834-1836)ctC>ctG	p.L612L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	612	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGAGTCGCCTCTGCACCAACC	0.562000													6	88					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49340758	49340758	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:49340758G>C	ENST00000263265.6	-	20	2683	c.2128C>G	c.(2128-2130)Cct>Gct	p.P710A	PLEKHA4_ENST00000355496.5_3'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	710						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGGTCCGAAGGAGGCAGCGGC	0.647000													4	32					0	0	1	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011284	2011284	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:2011284G>A	ENST00000543683.2	+	2	343	c.261G>A	c.(259-261)aaG>aaA	p.K87K	NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Silent_p.K87K			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	87					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	TGCAGTGGAAGAGGGACTAGT	0.562000													18	77					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067382	62067382	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:62067382C>G	ENST00000404929.1	-	3	768	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FAM161A_ENST00000405894.3_Missense_Mutation_p.E253Q	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	253					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGGACTCTTCTTTTTTCTTC	0.383000													4	73					0	0	1	0	0
GNRH2	2797	broad.mit.edu	37	20	3025174	3025174	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:3025174C>T	ENST00000380347.2	+	1	519	c.114C>T	c.(112-114)ctC>ctT	p.L38L	GNRH2_ENST00000245983.2_Silent_p.L38L|GNRH2_ENST00000380346.2_Silent_p.L38L|GNRH2_ENST00000359100.2_Silent_p.L38L|GNRH2_ENST00000359987.1_Silent_p.L38L			O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	38					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						AGCGAGCCCTCAGCTCAGCCC	0.662000													6	38					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62203736	62203736	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:62203736C>G	ENST00000394997.1	+	9	1426	c.1161C>G	c.(1159-1161)ctC>ctG	p.L387L	HIF1A_ENST00000323441.6_Silent_p.L386L|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Silent_p.L410L|HIF1A_ENST00000337138.4_Silent_p.L386L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000557538.1_Silent_p.L327L			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	386	Interaction with TSGA10 (By similarity).|N-terminal VHL recognition site.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CAAGTAGCCTCTTTGACAAAC	0.413000													13	34					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11356292	11356292	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:11356292C>T	ENST00000315872.6	-	13	1901	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	ROCK2_ENST00000401753.1_Missense_Mutation_p.E242K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	485	Interaction with PPP1R12A.				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)		ACCTCCTCTTCTAGCTCCTTT	0.313000													26	74					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477360	78477360	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:78477360C>T	ENST00000377211.4	-	4	1154	c.1002G>A	c.(1000-1002)acG>acA	p.T334T	EDNRB_ENST00000446573.1_Silent_p.T244T|EDNRB_ENST00000334286.5_Silent_p.T244T	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	244					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	TGTAGTCCATCGTAATTATAT	0.403000													22	160					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28361269	28361269	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28361269G>C	ENST00000394835.3	+	8	1258	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.D356H|EFCAB5_ENST00000536908.2_Missense_Mutation_p.D300H|EFCAB5_ENST00000394832.2_Missense_Mutation_p.D356H|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D356H|EFCAB5_ENST00000541045.1_Missense_Mutation_p.D13H	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	356							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACATATTAAAGACTTGAAGAG	0.403000													13	57					0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916726	42916726	+	Missense_Mutation	SNP	C	C	T	rs138006773	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:42916726C>T	ENST00000316161.4	-	1	907	c.583G>A	c.(583-585)Gac>Aac	p.D195N	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.D195N|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	195					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGTAGCAGGTCCTGCTCCTTG	0.527000													11	54					0	0	1	0	0
TCTN2	79867	broad.mit.edu	37	12	124175190	124175190	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:124175190C>G	ENST00000303372.5	+	8	1130	c.1002C>G	c.(1000-1002)atC>atG	p.I334M	TCTN2_ENST00000426174.2_Missense_Mutation_p.I333M	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	334					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATGGTATTATCAATGCGAAGA	0.373000													10	30					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768713	88768713	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:88768713C>T	ENST00000444431.1	+	0	3313				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACCACCAGCCCCAAGCTCAAC	0.507000													23	57					0	0	1	0	0
AGO1	26523	broad.mit.edu	37	1	36359375	36359375	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:36359375C>T	ENST00000373204.4	+	5	826	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	AGO1_ENST00000373206.1_Missense_Mutation_p.R130C	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		CCAGTCTGTGCGCCCTGCCAT	0.622000													4	57					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236093	33236093	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:33236093C>T	ENST00000401073.2	+	6	1383	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S390F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S379F	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	379	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AAGGGTGGCTCTGAGGGCCAG	0.647000													5	17					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4111338	4111338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:4111338G>A	ENST00000341657.4	-	6	657	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.Q250*|ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.Q208*|ANKFY1_ENST00000433651.1_Nonsense_Mutation_p.Q208*	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	208						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TATAACAACTGAGCGCTCATG	0.438000													17	40					0	0	1	0	0
RGPD2	729857	broad.mit.edu	37	2	88082507	88082507	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:88082507C>T	ENST00000398146.3	-	20	4258	c.4036G>A	c.(4036-4038)Gaa>Aaa	p.E1346K	RGPD2_ENST00000420840.2_Missense_Mutation_p.E1338K|RGPD2_ENST00000327544.6_Missense_Mutation_p.E603K			Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 2	1338	RanBD1 2.				intracellular transport		binding			breast(1)|pancreas(1)	2						ACAACTTGTTCATTTTCCTCA	0.368000													66	245					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614296	15614296	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:15614296C>T	ENST00000378076.3	-	25	2904	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	851					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AGAAGAAATTCATCCCGGGCA	0.443000													17	53					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639380	70639380	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:70639380G>C	ENST00000322773.4	+	6	556	c.454G>C	c.(454-456)Gat>Cat	p.D152H		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	152	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACAGAGGGAGATGTGTTGAA	0.358000													79	45					0	0	1	0	0
CLCN1	1180	broad.mit.edu	37	7	143042826	143042826	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:143042826G>A	ENST00000343257.2	+	17	2230	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	715					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGATGAGGATGAGGACGAAGA	0.672000											OREG0018402	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45439714	45439714	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:45439714G>A	ENST00000321429.4	+	20	2813	c.2406G>A	c.(2404-2406)ctG>ctA	p.L802L	DUOX1_ENST00000389037.3_Silent_p.L802L|DUOX1_ENST00000561166.1_Silent_p.L448L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	802					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCTGTGAGCTGAGCAGGGCCG	0.622000													17	25					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351175	40351175	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:40351175G>C	ENST00000310169.2	+	4	781	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	214					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGAAGAATGTGATCTCCTATG	0.512000													84	188					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5430161	5430161	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:5430161G>C	ENST00000399537.4	-	4	790	c.442C>G	c.(442-444)Cag>Gag	p.Q148E	TNRC18_ENST00000430969.1_Missense_Mutation_p.Q148E|TNRC18_ENST00000399434.2_Missense_Mutation_p.Q74E			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	148							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		ATGCTGGGCTGACCCAGCTGG	0.642000													4	12					0	0	1	0	0
ZCCHC10	54819	broad.mit.edu	37	5	132362197	132362197	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:132362197C>G	ENST00000324170.3	-	1	99	c.33G>C	c.(31-33)cgG>cgC	p.R11R	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_Silent_p.R11R|ZCCHC10_ENST00000509437.1_Silent_p.R11R|ZCCHC10_ENST00000513541.1_Silent_p.R11R|ZCCHC10_ENST00000504170.1_Silent_p.R11R|ZCCHC10_ENST00000355372.2_Silent_p.R11R|ZCCHC10_ENST00000513848.1_Silent_p.R11R	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	11							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACGCTTGTCTCCGGGCTATTA	0.647000													5	28					0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115799	158115799	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:158115799C>G	ENST00000259056.4	+	1	1690	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	402					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAGCCCCCTCTACAGAATAC	0.463000													20	54					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024197	31024197	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:31024197G>C	ENST00000375687.4	+	13	4106	c.3682G>C	c.(3682-3684)Gaa>Caa	p.E1228Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.E1223Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1228					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAACTGGAAGAAATGGATTC	0.463000			"""F, N, Mis"""		"""MDS, CMML"""								22	53					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875186	247875186	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:247875186G>A	ENST00000302084.2	-	1	919	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATTACGAAGCGTATAGATGAA	0.443000													38	98					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820912	62820912	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:62820912C>T	ENST00000582986.1	-	0	188					NR_024386.1																						TCTCCGTCTTCACTAGTGACC	0.547000													5	42					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794557	30794557	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30794557G>A	ENST00000262525.4	-	3	1299	c.1092C>T	c.(1090-1092)caC>caT	p.H364H		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GAGTCCGCTGGTGCTTGATGA	0.662000													14	41					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18049377	18049377	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:18049377C>T	ENST00000205890.5	+	30	6803	c.6465C>T	c.(6463-6465)ctC>ctT	p.L2155L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2155	MyTH4 1.|Tail.				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)					CCGCCTGCCTCAGTGGCTTTG	0.612000													9	17					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115117368	115117368	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:115117368C>T	ENST00000349155.2	-	3	1709	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	TBX3_ENST00000257566.3_Missense_Mutation_p.R269Q	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	269					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAAGTATGTCCGAAATGTACT	0.433000													27	87					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165398042	165398042	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:165398042G>A	ENST00000359842.5	-	2	513	c.211C>T	c.(211-213)Cga>Tga	p.R71*		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	71	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R71*(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GTGATGACTCGATATGGAGAG	0.607000													11	26					0	0	1	0	0
IGFL3	388555	broad.mit.edu	37	19	46627565	46627565	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:46627565C>A	ENST00000341415.2	-	2	63	c.39G>T	c.(37-39)tgG>tgT	p.W13C	AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3	13						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGACTGTTATCCAGCAGACAA	0.443000													10	47					2.27111e-07	2.37655e-07	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38184304	38184304	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:38184304C>G	ENST00000317025.8	-	7	2169	c.1652G>C	c.(1651-1653)aGa>aCa	p.R551T	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R551T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R551T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R551T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	551					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTTTCATTTCTCTGGTTTGG	0.363000			T	NUP98	AML								11	76					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50589740	50589740	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:50589740G>C	ENST00000442544.2	+	6	1667	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.E6Q|DCC_ENST00000412726.1_Missense_Mutation_p.E199Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	351	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TATTGAGTTTGAATGTACAGT	0.388000													47	97					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069418	4069418	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:4069418C>T	ENST00000274673.3	-	7	1442	c.1039G>A	c.(1039-1041)Gat>Aat	p.D347N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	347																	TGACTTTTATCTACACAAGGT	0.388000													103	114					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290714	58290714	+	Nonstop_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:58290714G>C	ENST00000396150.4	+	2	779	c.632G>C	c.(631-633)tGa>tCa	p.*211S	ZNF586_ENST00000391702.3_Missense_Mutation_p.L210F|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.L253F|ZNF586_ENST00000599802.1_Intron	NM_001077426.2	NP_001070894.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAAACACTTGAGAGTTCACA	0.448000													12	75					0	0	1	0	0
B3GNTL1	146712	broad.mit.edu	37	17	81006650	81006650	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:81006650G>C	ENST00000320865.3	-	2	85	c.72C>G	c.(70-72)ctC>ctG	p.L24L	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	24							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TGTGGACTGGGAGGATAATAG	0.453000													15	82					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61689579	61689579	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:61689579C>T	ENST00000577390.1	-	11	2655	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	CDH8_ENST00000577730.1_Silent_p.Q567Q|CDH8_ENST00000299345.6_Silent_p.Q567Q	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	567	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTTCTTGCTTCTGGCGGTTGA	0.383000													11	41					0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62357989	62357989	+	Silent	SNP	G	G	C	rs148384115		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:62357989G>C	ENST00000283268.3	-	2	849	c.555C>G	c.(553-555)ctC>ctG	p.L185L	FEZF2_ENST00000475839.1_Silent_p.L185L|FEZF2_ENST00000486811.1_Silent_p.L185L	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	185					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGCCGCTGAGGAGCTCAGACG	0.662000													5	10					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53169378	53169378	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:53169378G>C	ENST00000332411.2	-	2	662	c.609C>G	c.(607-609)ttC>ttG	p.F203L		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	203	Coil 1A.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGTTCCAGGAACCGCACCT	0.567000													21	45					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152962	101152962	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:101152962C>T	ENST00000372782.3	-	5	431	c.384G>A	c.(382-384)atG>atA	p.M128I	ZMAT1_ENST00000540921.1_Missense_Mutation_p.M128I|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AGCTAAACATCATGTTGCAGA	0.378000													28	30					0	0	1	0	0
OR52N4	390072	broad.mit.edu	37	11	5776114	5776114	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:5776114C>G	ENST00000317254.3	+	1	192	c.144C>G	c.(142-144)ctC>ctG	p.L48L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		GTGGACTCCTCTACCTCATTC	0.458000													17	33					0	0	1	0	0
RARS	5917	broad.mit.edu	37	5	167945051	167945051	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:167945051G>C	ENST00000231572.3	+	14	1911	c.1857G>C	c.(1855-1857)gaG>gaC	p.E619D	RARS_ENST00000538719.1_Missense_Mutation_p.E413D	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	619					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		ACTGTGTGGAGAAAGATAGAC	0.388000													12	51					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342877	118342877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118342877G>T	ENST00000534358.1	+	3	1026	c.1003G>T	c.(1003-1005)Gaa>Taa	p.E335*	KMT2A_ENST00000389506.5_Nonsense_Mutation_p.E335*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.E335*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GAAAGACAAGGAAGGAACACC	0.448000													16	74					0.00316338	0.00319943	1	1	0
WDHD1	11169	broad.mit.edu	37	14	55411117	55411117	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:55411117G>C	ENST00000360586.3	-	25	3187	c.3122C>G	c.(3121-3123)tCa>tGa	p.S1041*	WDHD1_ENST00000359167.4_Nonsense_Mutation_p.S559*|WDHD1_ENST00000420358.2_Nonsense_Mutation_p.S918*|WDHD1_ENST00000421192.1_Nonsense_Mutation_p.S918*	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1041						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TGCTTCATCTGAAAAGTCAGG	0.338000													8	47					0	0	1	0	0
GAS5	60674	broad.mit.edu	37	1	173834524	173834524	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:173834524C>G	ENST00000363859.1	-	0	46					NR_003939.1																						TTTTCTTTCTCAGAGAGATTC	0.299000													4	25					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76893186	76893186	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:76893186G>C	ENST00000409709.3	+	24	3366	c.3094G>C	c.(3094-3096)Gag>Cag	p.E1032Q	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1032Q|MYO7A_ENST00000409893.1_Missense_Mutation_p.E1032Q|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1021Q	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1032	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATGACGACGAGGGTGACCA	0.607000													12	40					0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89856593	89856593	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:89856593C>G	ENST00000287908.3	+	3	1194	c.801C>G	c.(799-801)ctC>ctG	p.L267L	STEAP2_ENST00000394632.1_Silent_p.L267L|STEAP2_ENST00000394621.2_Silent_p.L267L|STEAP2_ENST00000402625.2_Silent_p.L267L|STEAP2_ENST00000394629.2_Silent_p.L267L|STEAP2_ENST00000394622.2_Silent_p.L267L|STEAP2_ENST00000394626.1_Silent_p.L267L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	267	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACTTTGCTCTCCCTAGTAT	0.398000													25	88					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40254051	40254051	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:40254051C>G	ENST00000263791.5	+	7	853	c.810C>G	c.(808-810)ttC>ttG	p.F270L	EIF2AK4_ENST00000559624.1_Missense_Mutation_p.F270L|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.F270L	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	270					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTCTGTATTTCAATATGGGGA	0.333000													15	57					0	0	1	0	0
PTMS	5763	broad.mit.edu	37	12	6879607	6879607	+	Nonstop_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:6879607G>C	ENST00000309083.6	+	5	637	c.308G>C	c.(307-309)tGa>tCa	p.*103S	PTMS_ENST00000389462.4_3'UTR|PTMS_ENST00000538057.1_3'UTR	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	0					DNA replication	nucleus				endometrium(2)|large_intestine(2)|liver(1)	5						GCATCGGCGTGAGCCCCTGCC	0.632000													9	36					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89599257	89599257	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:89599257C>T	ENST00000402738.1	+	19	2407	c.2168C>T	c.(2167-2169)tCt>tTt	p.S723F	HERC3_ENST00000264345.3_Missense_Mutation_p.S723F|HERC3_ENST00000543130.1_Missense_Mutation_p.S167F	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	723					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGCATTCATTCTGATATTGAT	0.458000													12	62					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42284902	42284902	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:42284902C>T	ENST00000302904.4	-	20	2581	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.D660N|UBTF_ENST00000527034.1_Missense_Mutation_p.M658I|UBTF_ENST00000436088.1_Missense_Mutation_p.D697N|UBTF_ENST00000529383.1_Missense_Mutation_p.D697N|UBTF_ENST00000533177.1_Missense_Mutation_p.D660N|UBTF_ENST00000343638.5_Missense_Mutation_p.D660N|UBTF_ENST00000393606.3_Missense_Mutation_p.D660N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	697	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CCATTCTCATCAtcttcctct	0.577000													20	19					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072852	31072852	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:31072852G>A	ENST00000538906.1	-	3	2181	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ZNF668_ENST00000394983.2_Missense_Mutation_p.S466L|ZNF668_ENST00000417110.2_Missense_Mutation_p.D14N|ZNF668_ENST00000300849.4_Missense_Mutation_p.S466L|ZNF668_ENST00000535577.1_Missense_Mutation_p.S466L|ZNF668_ENST00000539836.3_Missense_Mutation_p.S489L|ZNF668_ENST00000426488.2_Missense_Mutation_p.S489L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACACCACCTGACTCCGGGGG	0.687000													21	75					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959024	75959024	+	Missense_Mutation	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:75959024A>G	ENST00000307630.3	-	2	836	c.614T>C	c.(613-615)aTc>aCc	p.I205T		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	205					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						AAGCTCGGCGATGGCGTCGTC	0.592000													17	62					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676606	56676606	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:56676606G>C	ENST00000389934.3	-	14	2217	c.2100C>G	c.(2098-2100)ctC>ctG	p.L700L	TEX14_ENST00000240361.8_Silent_p.L706L|TEX14_ENST00000349033.5_Silent_p.L700L	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	706						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)					TGAGTGAACTGAGTGAACCGT	0.478000													19	149					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64876790	64876790	+	Silent	SNP	C	C	T	rs147241001		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64876790C>T	ENST00000279281.3	+	6	1574	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		AGGGCCTCATCGTGGGCTTCG	0.617000													14	24					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110558	155110558	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155110558G>C	ENST00000368404.4	+	5	610	c.548G>C	c.(547-549)aGa>aCa	p.R183T	SLC50A1_ENST00000368401.5_Missense_Mutation_p.R128T|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.R129T|SLC50A1_ENST00000484157.1_Missense_Mutation_p.R118T	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	183	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						TTTCGACTCAGAGATCCCTAT	0.493000													17	55					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													6	28					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584472	1584472	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:1584472G>C	ENST00000381297.4	-	2	1190	c.980C>G	c.(979-981)tCc>tGc	p.S327C		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	327						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCCTGGCGGAGAAGAGGCT	0.677000			T	CRLF2	"""B-ALL, Downs associated ALL"""								8	50					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059517	152059517	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:152059517C>T	ENST00000368806.1	-	3	705	c.641G>A	c.(640-642)gGa>gAa	p.G214E		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	214							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTTTTTGATCCTGCCATTGG	0.443000													23	53					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48592784	48592784	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:48592784C>T	ENST00000358350.4	-	17	2003	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K	FRYL_ENST00000507711.1_Missense_Mutation_p.E467K|FRYL_ENST00000537810.1_Missense_Mutation_p.E467K|FRYL_ENST00000503238.1_Missense_Mutation_p.E467K|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Missense_Mutation_p.E173K	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATGGGTGGTTCACCATCTTTC	0.378000													15	81					0	0	1	0	0
VPS4A	27183	broad.mit.edu	37	16	69354158	69354158	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:69354158G>A	ENST00000254950.11	+	7	891	c.735G>A	c.(733-735)cgG>cgA	p.R245R	RP11-343C2.11_ENST00000570054.2_Silent_p.R269R|COG8_ENST00000564419.1_5'UTR	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	245					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				AGGCCGCCCGGAGGATCAAAA	0.572000													11	36					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179993692	179993692	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:179993692G>C	ENST00000367607.3	+	14	3943	c.3525G>C	c.(3523-3525)aaG>aaC	p.K1175N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1175	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CTAAAGGAAAGAAAGGAAAAA	0.388000													6	20					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515518	140515518	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140515518C>T	ENST00000231134.5	+	1	719	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		168	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACACTGTTCAGAACTACAC	0.473000													14	70					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186697919	186697919	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:186697919G>T	ENST00000343098.5	+	23	20957	c.20957G>T	c.(20956-20958)aGa>aTa	p.R6986I	FSIP2_ENST00000424728.1_Missense_Mutation_p.R6897I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATTTCCAGATCTTCCTCA	0.363000													5	43					2.0095e-06	2.09815e-06	1	1	0
JSRP1	126306	broad.mit.edu	37	19	2252582	2252582	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2252582C>G	ENST00000300961.6	-	7	806	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	JSRP1_ENST00000586471.2_Missense_Mutation_p.E248Q	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1		Arg-rich.					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGGCTTCTCCTTCCGCGGC	0.711000													12	36					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				8	7					0	0	1	0	0
CDKN3	1033	broad.mit.edu	37	14	54882625	54882625	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:54882625G>T	ENST00000556102.2	+	6	491	c.425G>T	c.(424-426)gGa>gTa	p.G142V	CDKN3_ENST00000458126.2_Missense_Mutation_p.G142V|CDKN3_ENST00000442975.2_Missense_Mutation_p.G102V|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000543789.2_Intron|CDKN3_ENST00000395577.2_Missense_Mutation_p.G96V|CDKN3_ENST00000335183.6_Missense_Mutation_p.G142V			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	142					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						AGCTGCTATGGAGGACTTGGG	0.343000													11	47					2.27111e-07	2.37655e-07	1	1	0
XIAP	331	broad.mit.edu	37	X	123019711	123019711	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:123019711C>T	ENST00000371199.3	+	2	498	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	XIAP_ENST00000355640.3_Missense_Mutation_p.H67Y|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.H67Y	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	67					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CTTTAGTTGTCATGCAGCTGT	0.433000									X-linked Lymphoproliferative syndrome				62	38					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15455531	15455531	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:15455531C>T	ENST00000443029.1	-	5	910	c.670G>A	c.(670-672)Gat>Aat	p.D224N	METTL6_ENST00000383790.3_Missense_Mutation_p.D224N|METTL6_ENST00000450816.2_Missense_Mutation_p.D179N			Q8TCB7	METL6_HUMAN	methyltransferase like 6	224							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ATCTTACCATCAGTAAAAAAA	0.373000													14	24					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302561	38302561	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:38302561G>C	ENST00000399120.1	-	6	2399	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.4_Nonsense_Mutation_p.S390*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	390					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTCCGCAGCTGACAGCAAGTA	0.493000													12	38					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44266212	44266212	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:44266212C>T	ENST00000395749.2	-	20	1576	c.1500G>A	c.(1498-1500)gtG>gtA	p.V500V	CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000457475.1_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	500					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGCCCCTCCTCACAGAGTTCA	0.677000													6	25					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54544224	54544224	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:54544224C>T	ENST00000338372.2	-	9	877	c.702G>A	c.(700-702)ctG>ctA	p.L234L	VSTM1_ENST00000376626.1_Silent_p.L203L|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Silent_p.L146L	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	234						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GCTACACTTTCAGTGCCGCAT	0.552000													21	39					0	0	1	0	0
C14orf166B	145497	broad.mit.edu	37	14	77327076	77327076	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:77327076G>C	ENST00000393774.3	+	11	1269	c.1145G>C	c.(1144-1146)gGa>gCa	p.G382A		NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	382										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		ACGTTGGACGGAGTGTATGCC	0.542000													8	43					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794853	30794853	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30794853C>T	ENST00000262525.4	-	3	1003	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGCGGCACTCGCCGCACTTG	0.632000													29	59					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31324875	31324875	+	Nonsense_Mutation	SNP	C	C	A	rs41553720		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:31324875C>A	ENST00000412585.2	-	1	89	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCCAGGTCTCGGTCAGGGCC	0.731000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				11	3					4.68919e-08	4.93233e-08	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215882815	215882815	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:215882815C>G	ENST00000272895.7	-	14	1918	c.1699G>C	c.(1699-1701)Gaa>Caa	p.E567Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.E249Q	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	567					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTAAATCTTCTTTCAGCTCT	0.388000													6	60					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924968	43924968	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:43924968G>C	ENST00000396879.1	-	12	1449	c.1337C>G	c.(1336-1338)tCc>tGc	p.S446C	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.S452C|CATSPER2_ENST00000355438.2_Intron|CATSPER2_ENST00000321596.5_Missense_Mutation_p.S448C|CATSPER2_ENST00000354127.4_Missense_Mutation_p.S446C	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	448	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		agaggatgtggaggagacaca	0.378000													19	113					0	0	1	0	0
STX7	8417	broad.mit.edu	37	6	132824616	132824616	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:132824616G>A	ENST00000367941.2	-	2	167	c.54C>T	c.(52-54)atC>atT	p.I18I	STX7_ENST00000367937.4_Silent_p.I18I|STX7_ENST00000448348.3_5'UTR	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	18					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGTTAGAAGAGATCCTCTGGG	0.433000													30	58					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58864524	58864524	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:58864524G>C	ENST00000263100.3	-	3	171	c.110C>G	c.(109-111)tCa>tGa	p.S37*	A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000594950.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	37	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TTTCAGCAGTGATTCGGACTC	0.627000													20	68					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187884	70187884	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:70187884G>A	ENST00000320256.4	-	1	1513	c.937C>T	c.(937-939)Ctg>Ttg	p.L313L		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	313					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCCACAGGCAGAAGGCGAAAC	0.562000													33	109					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69924769	69924769	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:69924769C>A	ENST00000355303.5	+	1	362	c.57C>A	c.(55-57)atC>atA	p.I19I	ANO1_ENST00000398543.2_5'UTR|ANO1_ENST00000538023.1_Silent_p.I19I	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	19					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GCGTCCACATCATCAACATCT	0.736000													3	24					1	1	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44041647	44041647	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:44041647G>A	ENST00000543989.1	-	8	2251	c.546C>T	c.(544-546)gtC>gtT	p.V182V	ABCG5_ENST00000405322.1_Silent_p.V406V|ABCG5_ENST00000260645.1_Silent_p.V577V			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	577	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGAACTCATTGACTACAAGAA	0.313000													25	57					0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50377470	50377470	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:50377470G>C	ENST00000376020.2	-	4	1628	c.1603C>G	c.(1603-1605)Caa>Gaa	p.Q535E	SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q535E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q419E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	535					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GTGGCTTGTTGAACAAGGGAG	0.562000													12	10					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43819487	43819487	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:43819487G>T	ENST00000389420.3	-	28	4113	c.4114C>A	c.(4114-4116)Caa>Aaa	p.Q1372K	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q490K|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1372K	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1372	TSP type-1 10.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCACATGTTTGTGAACACTAA	0.294000													3	23					0.004672	0.00471852	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28380861	28380861	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28380861G>A	ENST00000394835.3	+	10	2081	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	EFCAB5_ENST00000320856.5_Missense_Mutation_p.R630K|EFCAB5_ENST00000536908.2_Missense_Mutation_p.R574K|EFCAB5_ENST00000394832.2_Missense_Mutation_p.R630K|EFCAB5_ENST00000378738.3_Missense_Mutation_p.R630K|EFCAB5_ENST00000541045.1_Missense_Mutation_p.R287K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	630							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGATCACGCAGAATGTCAGCT	0.448000													27	123					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309936	89309936	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:89309936C>T	ENST00000493819.1	-	0	76																											AGGAGCTGAGCGGGGACCCTC	0.577000													33	89					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619740	52619740	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:52619740G>A	ENST00000600228.1	-	4	938	c.677C>T	c.(676-678)tCa>tTa	p.S226L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTTAGTAGTGAGGCCCGATG	0.388000													23	91					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12318035	12318035	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:12318035G>A	ENST00000358136.3	+	10	1115	c.985G>A	c.(985-987)Gag>Aag	p.E329K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E329K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	329					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)		TAACTTGTATGAGATCAGAGA	0.408000													19	126					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3452353	3452353	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:3452353C>T	ENST00000330513.5	+	1	679	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000548489.2_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	126					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TCCAGCTCCTCGGCGCCGACT	0.677000													9	20					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126883230	126883230	+	Missense_Mutation	SNP	G	G	A	rs769194		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:126883230G>A	ENST00000339582.2	-	2	837	c.29C>T	c.(28-30)tCt>tTt	p.S10F	GRM8_ENST00000444921.2_Missense_Mutation_p.S10F|GRM8_ENST00000358373.3_Missense_Mutation_p.S10F|GRM8_ENST00000405249.1_Missense_Mutation_p.S10F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	10			S -> C (in dbSNP:rs769194).		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ACAAGGGCAAGAGGCTGATCG	0.488000										HNSCC(24;0.065)	OREG0003802	type=REGULATORY REGION|Gene=GRM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	27	53					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100568829	100568829	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:100568829G>C	ENST00000358544.2	+	31	5083	c.4972G>C	c.(4972-4974)Gag>Cag	p.E1658Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E1633Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1658					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGTGGTAACAGAGACTGAAAG	0.423000													21	24					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059544	59059544	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:59059544G>A	ENST00000361488.3	+	5	1635	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	252						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GGAGTCAGCCGAAGACCCTCC	0.602000													12	72					0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105503688	105503688	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:105503688C>T	ENST00000276654.5	-	7	1901	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.R579K	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	598					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGCTTGATCTGCCTGCCAT	0.428000													11	58					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68071226	68071226	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:68071226C>G	ENST00000262210.5	+	19	2408	c.2377C>G	c.(2377-2379)Caa>Gaa	p.Q793E	CSPP1_ENST00000412460.1_Splice_Site_p.Q448E|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	828	Glu-rich.					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)			TATTTTAAAGCAAAGGCTAAA	0.284000													19	44					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8553643	8553643	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:8553643G>C	ENST00000348943.3	+	17	2213	c.1981G>C	c.(1981-1983)Gag>Cag	p.E661Q	HNRNPM_ENST00000325495.4_Missense_Mutation_p.E700Q|HNRNPM_ENST00000602219.1_3'UTR	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	700	RRM 3.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GGTTAAGTTCGAGTCGCCAGA	0.547000													27	38					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3532434	3532434	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:3532434C>T	ENST00000441788.2	+	11	1264	c.1028C>T	c.(1027-1029)tCg>tTg	p.S343L	FZR1_ENST00000313639.8_Missense_Mutation_p.S254L|FZR1_ENST00000395095.3_Missense_Mutation_p.S343L	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	343					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAATCACTCGAGCCTGAGC	0.701000													3	19					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621626	118621626	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:118621626G>C	ENST00000354673.2	-	9	1414	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C	IGSF11_ENST00000491903.1_Missense_Mutation_p.S318C|IGSF11_ENST00000393775.2_Missense_Mutation_p.S346C|IGSF11_ENST00000489689.1_Missense_Mutation_p.S322C|IGSF11_ENST00000441144.2_Missense_Mutation_p.S321C|IGSF11_ENST00000425327.2_Missense_Mutation_p.S345C	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	346					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGTGGAAAGAGAAAGATTG	0.473000													39	111					0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151508289	151508289	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:151508289G>A	ENST00000271636.7	+	18	3245	c.3112G>A	c.(3112-3114)Gaa>Aaa	p.E1038K		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1032						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGCCAGCTCAGAAGGCTTCCA	0.552000													8	35					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019342	184019342	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:184019342C>T	ENST00000310118.4	+	4	933	c.375C>T	c.(373-375)atC>atT	p.I125I	PSMD2_ENST00000435761.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_5'UTR|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	125					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 ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CTGCTGACATCATCTCCGTTT	0.483000													19	84					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119182803	119182803	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:119182803C>G	ENST00000392814.1	-	4	1678	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	MCAM_ENST00000264036.4_Missense_Mutation_p.E368Q			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	368	Ig-like C2-type 1.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		TGGCTACTCTCTGCCTCACAG	0.627000													6	34					0	0	1	0	0
ACSS1	84532	broad.mit.edu	37	20	24994270	24994270	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:24994270G>A	ENST00000537502.1	-	8	2763	c.1232C>T	c.(1231-1233)tCc>tTc	p.S411F	ACSS1_ENST00000542618.1_Missense_Mutation_p.S373F|ACSS1_ENST00000323482.4_Missense_Mutation_p.S494F|ACSS1_ENST00000432802.2_Missense_Mutation_p.S494F			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	494					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAGGGCCCCGGAGACGTTGCT	0.622000													5	24					0	0	1	0	0
C14orf183	196913	broad.mit.edu	37	14	50559341	50559341	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:50559341C>T	ENST00000305273.1	-	1	20	c.21G>A	c.(19-21)tcG>tcA	p.S7S		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	7										endometrium(2)|large_intestine(2)|lung(3)	7						TCTTACTATTCGAGAACCCTA	0.463000													12	23					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131713882	131713882	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:131713882G>A	ENST00000435065.2	+	2	420	c.420G>A	c.(418-420)atG>atA	p.M140I	SLC22A5_ENST00000245407.3_Intron			O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	131					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	ACAATGCTATGAAAAACAGGA	0.532000													6	13					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53213712	53213712	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:53213712G>A	ENST00000394729.2	+	3	563	c.235G>A	c.(235-237)Gag>Aag	p.E79K	PRKCD_ENST00000330452.3_Missense_Mutation_p.E79K	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	79	C2.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGCAGCAGAGGAGCCAGTGTC	0.592000													5	35					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131755967	131755967	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:131755967G>A	ENST00000372577.2	+	27	3032	c.3011G>A	c.(3010-3012)cGa>cAa	p.R1004Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1004					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGGTCCTCCGAACcaagtaa	0.502000													16	16					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38357324	38357324	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:38357324C>G	ENST00000379705.3	-	2	1004	c.147G>C	c.(145-147)aaG>aaC	p.K49N	TRPC4_ENST00000447043.1_Missense_Mutation_p.K49N|TRPC4_ENST00000355779.2_Missense_Mutation_p.K49N|TRPC4_ENST00000338947.5_Missense_Mutation_p.K49N|TRPC4_ENST00000426868.2_Missense_Mutation_p.K49N|TRPC4_ENST00000379673.2_Missense_Mutation_p.K49N|TRPC4_ENST00000379679.1_Missense_Mutation_p.K49N|TRPC4_ENST00000379681.3_Missense_Mutation_p.K49N|TRPC4_ENST00000358477.2_Missense_Mutation_p.K49N			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	49					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTAGGGATTTCTTGACACTGG	0.393000													24	159					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72127944	72127944	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:72127944C>T	ENST00000340726.3	-	15	2019	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	EYA1_ENST00000388743.2_Silent_p.K459K|EYA1_ENST00000303824.7_Silent_p.K454K|EYA1_ENST00000388740.3_Silent_p.K427K|EYA1_ENST00000419131.1_Silent_p.K425K|EYA1_ENST00000388742.4_Silent_p.K460K|EYA1_ENST00000388741.2_Silent_p.K426K	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	460					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGCTTCCCTCTTAGCTGGAC	0.483000													5	19					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639518	70639518	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:70639518G>A	ENST00000322773.4	+	6	694	c.592G>A	c.(592-594)Gat>Aat	p.D198N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	198	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGGCAGACTGATGAAAAGGA	0.423000													110	55					0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198231746	198231746	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:198231746C>G	ENST00000367385.4	+	4	582	c.240C>G	c.(238-240)atC>atG	p.I80M	NEK7_ENST00000538004.1_Missense_Mutation_p.I80M	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	80	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CTGATTGCATCAAAGAAATAG	0.294000													44	133					0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24779978	24779978	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:24779978C>G	ENST00000003912.3	+	8	1090	c.375C>G	c.(373-375)ctC>ctG	p.L125L	NIPAL3_ENST00000374399.4_Silent_p.L207L|NIPAL3_ENST00000358028.4_Silent_p.L207L|NIPAL3_ENST00000428131.1_Silent_p.L207L|NIPAL3_ENST00000339255.2_Silent_p.L207L			Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	207						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGATTCTTCTCTTGGTGGCGT	0.473000													5	23					0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138417522	138417522	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:138417522C>G	ENST00000421351.3	-	2	494	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_022121.4	NP_071404.2	Q96FX8	PERP_HUMAN	PERP, TP53 apoptosis effector	108					apoptosis|cell adhesion	desmosome|Golgi apparatus|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		CAATCACTCTCAGGAAGACAA	0.507000													49	24					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14863874	14863874	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:14863874C>A	ENST00000380881.4	-	4	1077	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	FREM1_ENST00000422223.2_Nonsense_Mutation_p.E88*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.E88*			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	88					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E88K(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TACTTGACTTCGTTGGGAAGG	0.413000													11	12					6.40141e-05	6.56792e-05	1	1	0
TAF1	6872	broad.mit.edu	37	X	70683804	70683804	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:70683804G>A	ENST00000449580.1	+	39	5680	c.5629G>A	c.(5629-5631)Gta>Ata	p.V1877I	TAF1_ENST00000423759.1_Missense_Mutation_p.V1866I|TAF1_ENST00000373790.4_Missense_Mutation_p.V1843I|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000276072.3_Missense_Mutation_p.V1864I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1843					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGGCCGAGCGTACTAAGCCA	0.552000													4	10					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115890401	115890401	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:115890401G>A	ENST00000358204.4	+	4	768	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TES_ENST00000393481.2_Missense_Mutation_p.E176K|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	185	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATATAAGAGCGAAGCTCTGGG	0.512000													19	44					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96364213	96364213	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:96364213C>T	ENST00000231368.5	+	18	3746	c.3054C>T	c.(3052-3054)ctC>ctT	p.L1018L	LNPEP_ENST00000395770.3_Silent_p.L1004L	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	1018					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGAAGAACCTCAAAAGTCTCA	0.483000													7	79					0	0	1	0	0
CD27	939	broad.mit.edu	37	12	6559440	6559440	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:6559440C>T	ENST00000266557.3	+	3	599	c.370C>T	c.(370-372)Cca>Tca	p.P124S	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule	124					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						TGATCCTCTTCCAAACCCTTC	0.577000													8	60					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66537027	66537027	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:66537027G>C	ENST00000592554.1	-	8	1904	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	394						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					CGATGACATTGAGGAGCCGCT	0.567000													18	14					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28545270	28545270	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28545270G>C	ENST00000401766.2	-	4	1076	c.564C>G	c.(562-564)atC>atG	p.I188M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I188M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	188					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGAAGGAGGAGATGAGGTAGT	0.532000													11	43					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70716052	70716052	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:70716052G>A	ENST00000354185.4	+	1	169	c.71G>A	c.(70-72)cGa>cAa	p.R24Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	24						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GAGACACTGCGAAAGCAAACC	0.622000													17	41					0	0	1	0	0
YY1AP1	55249	broad.mit.edu	37	1	155657886	155657886	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155657886G>C	ENST00000368340.5	-	1	478	c.370C>G	c.(370-372)Ctc>Gtc	p.L124V	YY1AP1_ENST00000368330.2_Intron|YY1AP1_ENST00000404643.1_5'UTR|YY1AP1_ENST00000359205.5_5'UTR|YY1AP1_ENST00000438245.2_5'UTR|YY1AP1_ENST00000407221.1_5'UTR|YY1AP1_ENST00000347088.5_Intron|DAP3_ENST00000471642.2_5'UTR|YY1AP1_ENST00000295566.4_Missense_Mutation_p.L52V|YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.L124V|YY1AP1_ENST00000311573.5_5'UTR|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000361831.5_5'UTR|YY1AP1_ENST00000355499.4_5'UTR|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.L124V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1									p.L124I(1)|p.L52I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGAGCGATGAGAGTACAGGGA	0.642000													18	29					0	0	1	0	0
TRAIP	10293	broad.mit.edu	37	3	49893848	49893848	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:49893848G>A	ENST00000331456.2	-	1	152	c.39C>T	c.(37-39)ttC>ttT	p.F13F	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Silent_p.F13F	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	13					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTGATCGAAGAAGTCGGAGC	0.607000													6	39					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139620595	139620595	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:139620595C>T	ENST00000414282.1	-	0	451				SNHG7_ENST00000436596.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA|SNHG7_ENST00000362567.2_RNA																							CCCACTGGTTCCCGAGCACTG	0.522000													50	48					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70899609	70899609	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:70899609G>A	ENST00000411986.2	+	8	1078	c.880G>A	c.(880-882)Gag>Aag	p.E294K	CTH_ENST00000370938.3_Missense_Mutation_p.E326K|CTH_ENST00000346806.2_Missense_Mutation_p.E282K	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	326					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TCAGCATGCTGAGATTTTCCT	0.433000													13	60					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837570	53837570	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:53837570C>T	ENST00000288139.4	+	45	5734	c.5616C>T	c.(5614-5616)taC>taT	p.Y1872Y	CACNA1D_ENST00000350061.5_Silent_p.Y1852Y|CACNA1D_ENST00000544977.1_Silent_p.Y231Y|CACNA1D_ENST00000422281.2_Silent_p.Y1828Y	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGGAATGCTACGAGGATGACA	0.612000													5	116					0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25581503	25581503	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:25581503G>A	ENST00000329474.6	+	31	3210	c.2842G>A	c.(2842-2844)Gag>Aag	p.E948K		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	948					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCGCTGGAAGAGGTACCAAT	0.433000													3	26					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6488465	6488465	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:6488465C>G	ENST00000377828.1	+	2	642	c.474C>G	c.(472-474)gtC>gtG	p.V158V		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	158					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)		GGCTTCTCGTCGAGCACTACC	0.637000													4	26					0	0	1	0	0
CCL25	6370	broad.mit.edu	37	19	8122788	8122788	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:8122788G>A	ENST00000253451.4	+	5	532	c.426G>A	c.(424-426)ctG>ctA	p.L142L	CCL25_ENST00000390669.3_Silent_p.L143L	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	143					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						tctccctcctgatatcagcta	0.483000													23	84					0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152069283	152069283	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:152069283C>T	ENST00000409598.4	-	11	2200	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	SH3D19_ENST00000409252.2_Missense_Mutation_p.E345K|SH3D19_ENST00000424281.1_Missense_Mutation_p.E309K|SH3D19_ENST00000427414.2_Missense_Mutation_p.E309K|SH3D19_ENST00000514152.1_Missense_Mutation_p.E345K|SH3D19_ENST00000304527.4_Missense_Mutation_p.E345K|SH3D19_ENST00000455740.1_Missense_Mutation_p.E345K			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	345	Interaction with SH3GL1.|Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTGGTCTCTCAGGGGGCACC	0.433000													19	35					0	0	1	0	0
UBE2L6	9246	broad.mit.edu	37	11	57321943	57321943	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:57321943C>T	ENST00000340573.4	-	3	685	c.79G>A	c.(79-81)Gag>Aag	p.E27K	UBE2L6_ENST00000287156.4_Missense_Mutation_p.E93K	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	93					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						TTCCAGTTCTCACTGCTGATG	0.527000													11	61					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313926	54313926	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:54313926C>T	ENST00000324134.6	-	3	1155	c.987G>A	c.(985-987)cgG>cgA	p.R329R	NLRP12_ENST00000345770.5_Silent_p.R329R|NLRP12_ENST00000354278.3_Silent_p.R329R|NLRP12_ENST00000351894.4_Silent_p.R329R|NLRP12_ENST00000391773.1_Silent_p.R329R|NLRP12_ENST00000391772.1_Silent_p.R329R|NLRP12_ENST00000391775.3_Silent_p.R329R|NLRP12_ENST00000535162.1_Silent_p.R329R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	329	NACHT.				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)		GCAGCTTCTTCCGAATTAAGC	0.577000													30	58					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287646	74287646	+	Silent	SNP	A	A	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:74287646A>C	ENST00000262765.5	-	4	2843	c.2664T>G	c.(2662-2664)ccT>ccG	p.P888P		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	888							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGTCTGTGCCAGGATGCATCA	0.517000													19	138					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4712420	4712420	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:4712420C>T	ENST00000263088.6	+	5	540	c.409C>T	c.(409-411)Cga>Tga	p.R137*	PLD2_ENST00000572940.1_Nonsense_Mutation_p.R137*	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	137	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TTCTCCAGCCCGAGATGCAGG	0.577000													16	88					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128974302	128974302	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:128974302G>C	ENST00000522781.1	-	4	913	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	FAM196A_ENST00000424811.2_Missense_Mutation_p.L120V|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	120										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						TTGCGGTCCAGAGGGAACGTC	0.532000													23	44					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71243548	71243548	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:71243548C>T	ENST00000373290.2	+	2	320	c.198C>T	c.(196-198)ctC>ctT	p.L66L		NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	66						integral to plasma membrane|membrane fraction		p.L66L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CCATCATCCTCATCCTCCTGG	0.552000													12	27					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46231349	46231349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:46231349C>T	ENST00000334344.6	+	10	1361	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q26*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q248*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATATGTGGATCAGGATTCCTA	0.368000			"""N, S, F"""		hepatocellular carcinoma								33	66					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913238	111913238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:111913238G>A	ENST00000368761.5	-	2	530	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	TRAF3IP2_ENST00000340026.6_Nonsense_Mutation_p.Q27*|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Nonsense_Mutation_p.Q18*	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	27					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TTCAGCAACTGACTTGGGTAT	0.453000													6	73					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54282208	54282208	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:54282208C>G	ENST00000354646.2	-	12	2653	c.2215G>C	c.(2215-2217)Gag>Cag	p.E739Q	WNK3_ENST00000375159.2_Missense_Mutation_p.E739Q|WNK3_ENST00000375169.3_Missense_Mutation_p.E739Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	739					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GTCCCCTTCTCTGGTCGGGGA	0.478000													28	23					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012519	185012519	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:185012519G>A	ENST00000296741.2	-	8	1275	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	378					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GAGCAGCTCTGAAGTTGGATT	0.502000													12	76					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259584	151259584	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:151259584C>T	ENST00000368879.2	+	2	915	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	273	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGAGCCCTCTTGCCTCCCC	0.622000													9	78					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171871390	171871390	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:171871390C>T	ENST00000442919.2	-	13	1776	c.1161G>A	c.(1159-1161)ctG>ctA	p.L387L	TLK1_ENST00000431350.2_Silent_p.L435L|TLK1_ENST00000360843.3_Silent_p.L456L|TLK1_ENST00000434911.2_Silent_p.L339L|TLK1_ENST00000521943.1_Silent_p.L387L	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	435					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTATTCTTTTCAGCTCACGTA	0.383000													10	59					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44279155	44279155	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:44279155C>T	ENST00000244571.4	-	3	555	c.553G>A	c.(553-555)Gag>Aag	p.E185K	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	185					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TCCCTGGTCTCCAGGTCTGGG	0.562000													23	61					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088859	113088859	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:113088859G>A	ENST00000409871.1	+	12	2765	c.2364G>A	c.(2362-2364)ttG>ttA	p.L788L	ZC3H6_ENST00000343936.4_Silent_p.L788L	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	788							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CCAGGAAATTGAGAGGGAATG	0.478000													29	45					0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42264602	42264602	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:42264602C>G	ENST00000373030.3	+	11	1090	c.960C>G	c.(958-960)ctC>ctG	p.L320L	IFT52_ENST00000373039.4_Silent_p.L320L	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	320						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ATGAACCACTCCAGCTCATCC	0.527000													15	33					0	0	1	0	0
MAGED1	9500	broad.mit.edu	37	X	51637851	51637851	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:51637851G>C	ENST00000375695.2	+	3	327	c.174G>C	c.(172-174)ctG>ctC	p.L58L	MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	0					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTGCCGTCCTGAGCTGCTACT	0.642000										Multiple Myeloma(10;0.10)			13	20					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825967	122825967	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:122825967G>A	ENST00000358808.2	-	10	1905	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	CLIP1_ENST00000540338.1_Missense_Mutation_p.T595M|CLIP1_ENST00000537178.1_Missense_Mutation_p.T549M|CLIP1_ENST00000545889.1_Missense_Mutation_p.T285M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T584M|CLIP1_ENST00000361654.4_Missense_Mutation_p.T549M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	595					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAGCTTTTCCGTGGCGGTATA	0.463000													53	157					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835177	60835177	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:60835177C>T	ENST00000313733.3	+	3	380	c.178C>T	c.(178-180)Cac>Tac	p.H60Y	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.H48Y	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	60					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AATTCAGAAACACAGGTATGT	0.453000													12	55					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374593	117374593	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:117374593C>T	ENST00000321322.6	-	11	2507	c.2506G>A	c.(2506-2508)Gac>Aac	p.D836N	DSCAML1_ENST00000527706.1_Missense_Mutation_p.D566N	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	776	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTGCTGATGTCGGTGCCTACG	0.612000													6	22					0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100841624	100841624	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:100841624C>G	ENST00000223114.4	-	5	682	c.516G>C	c.(514-516)caG>caC	p.Q172H	MOGAT3_ENST00000379423.3_Missense_Mutation_p.Q172H|MOGAT3_ENST00000440203.2_Missense_Mutation_p.Q172H	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	172					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGTCCAGGCTCTGGCGGCTCA	0.657000													12	36					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66463094	66463094	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:66463094C>T	ENST00000359626.5	+	2	211	c.47C>T	c.(46-48)tCa>tTa	p.S16L	TYW1_ENST00000491969.1_3'UTR	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	16					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.S16L(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CCTTTAATATCATTATGGATA	0.353000													13	72					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2498934	2498934	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:2498934G>A	ENST00000397066.4	+	11	1261	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	391	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AGGACCTGGTGAGAATGATGG	0.522000													21	39					0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43484981	43484981	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:43484981C>T	ENST00000300213.4	+	9	1143	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.H140Y|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	301	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		ACCTATGTGTCACCTGACCGT	0.388000													16	68					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163462	139163462	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:139163462C>T	ENST00000395297.1	-	13	3426	c.3256G>A	c.(3256-3258)Gag>Aag	p.E1086K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1086										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGACTTCCTCATCCAACGTG	0.468000										HNSCC(54;0.14)			17	36					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39036391	39036391	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:39036391C>G	ENST00000167588.3	-	4	794	c.753G>C	c.(751-753)caG>caC	p.Q251H		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	251	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGGTTCTTCTGGGCCATGA	0.463000													16	121					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104057495	104057495	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:104057495C>G	ENST00000265148.3	-	40	6414	c.6325G>C	c.(6325-6327)Gag>Cag	p.E2109Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E1988Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2109					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATCCATCTCTGAGTATCTC	0.318000													6	38					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521231	40521231	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:40521231G>A	ENST00000347077.4	+	7	2270	c.2054G>A	c.(2053-2055)aGa>aAa	p.R685K	ZNF546_ENST00000600094.1_Missense_Mutation_p.R659K|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAACATCACAGAGGCCATACT	0.418000													43	60					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104187842	104187842	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:104187842G>C	ENST00000374855.4	-	7	816	c.692C>G	c.(691-693)cCc>cGc	p.P231R	ALDOB_ENST00000468981.3_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	231					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				CACCATGTTGGGCTTTAGCAG	0.537000													25	38					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55972360	55972360	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:55972360G>C	ENST00000389286.4	-	6	912	c.865C>G	c.(865-867)Ctc>Gtc	p.L289V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	289	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATATCATGAGATTACCATTT	0.383000													5	33					0	0	1	0	0
SPAST	6683	broad.mit.edu	37	2	32339758	32339758	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:32339758C>A	ENST00000315285.3	+	5	859	c.734C>A	c.(733-735)tCa>tAa	p.S245*	SPAST_ENST00000345662.1_Nonsense_Mutation_p.S213*	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	245	Required for interaction with RTN1.|Sufficient for interaction with microtubules.|Sufficient for microtubule severing.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ACTAGTAATTCACTGCCTCGT	0.408000													11	54					3.86212e-05	3.96831e-05	1	1	0
C11orf35	256329	broad.mit.edu	37	11	557600	557600	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:557600G>C	ENST00000329451.3	-	6	658	c.596C>G	c.(595-597)tCt>tGt	p.S199C	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	199										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATGTTTTCAGAGAGGTCGCT	0.637000													8	28					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133389979	133389979	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:133389979C>G	ENST00000204726.3	-	4	991	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	GOLGA3_ENST00000456883.2_Missense_Mutation_p.E145Q|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E145Q|GOLGA3_ENST00000450791.2_Missense_Mutation_p.E145Q|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E145Q	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	145					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCCTCCTTCTCCAGGGGCAGG	0.537000													11	20					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363105	40363105	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:40363105C>G	ENST00000397332.2	-	3	1248	c.1124G>C	c.(1123-1125)aGa>aCa	p.R375T	MYCL_ENST00000372816.2_Missense_Mutation_p.R345T	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog									p.R375T(1)									TCGGAGCTGTCTTTTCTCTGT	0.522000													20	61					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351465	134351465	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:134351465C>T	ENST00000357304.4	+	15	4004	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1317							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCGGCGCCTCCGGCAAGAGCG	0.642000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	87					0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37455359	37455359	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:37455359C>T	ENST00000234170.5	-	2	1122	c.977G>A	c.(976-978)aGa>aAa	p.R326K		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	326					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TCTTCTATCTCTTGAGTCCTT	0.408000													24	60					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838392	16838392	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:16838392G>A	ENST00000355661.3	-	11	1831	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	PLEKHA7_ENST00000448080.2_Silent_p.I607I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.I607I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	607	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCCCCAGCGAGATGTCCACAC	0.667000													4	37					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61296328	61296328	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:61296328C>G	ENST00000217159.1	+	6	1369	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000370507.1_Silent_p.L388L|RP11-93B14.5_ENST00000433126.1_RNA	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	388					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCATCCTGCTCTGCCTGGCCG	0.622000													25	60					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671985	25671985	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:25671985C>A	ENST00000281589.3	+	1	1686	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	550	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTGCCCCTCCTCAAAAGCAA	0.463000													45	76					1.7489e-18	1.91772e-18	1	1	0
SLC46A3	283537	broad.mit.edu	37	13	29278167	29278167	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:29278167C>T	ENST00000266943.6	-	5	1583	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E	SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Missense_Mutation_p.G405E	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	405					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TGAGTAAATTCCATTAAAAGT	0.433000													22	21					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767593	41767593	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:41767593G>C	ENST00000394253.3	-	5	1974	c.1645C>G	c.(1645-1647)Ctc>Gtc	p.L549V	USP49_ENST00000373010.1_Missense_Mutation_p.L549V|USP49_ENST00000373009.3_Missense_Mutation_p.L549V|USP49_ENST00000373006.1_Missense_Mutation_p.L549V|USP49_ENST00000297229.2_Missense_Mutation_p.L549V			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	549					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCAGCCGGAGAACCTGAGGT	0.498000													49	231					0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19616267	19616267	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:19616267C>T	ENST00000404158.1	+	14	2307	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	GATAD2A_ENST00000537887.1_Missense_Mutation_p.S258L|GATAD2A_ENST00000360315.3_Missense_Mutation_p.S629L|GATAD2A_ENST00000358713.3_Missense_Mutation_p.S629L|GATAD2A_ENST00000429563.2_Missense_Mutation_p.S432L|GATAD2A_ENST00000252577.5_Missense_Mutation_p.S604L			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	629					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						ATCCCCCAGTCAGCCACGTGG	0.667000													13	86					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58285486	58285486	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:58285486C>G	ENST00000300896.4	-	24	3053	c.2859G>C	c.(2857-2859)ctG>ctC	p.L953L	USP32_ENST00000592339.1_Silent_p.L623L	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	953					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGAGATCACTCAGCTGTTTTT	0.343000													15	144					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34261425	34261425	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:34261425C>T	ENST00000257209.4	+	12	1459	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	FHOD3_ENST00000445677.1_Missense_Mutation_p.S408L|FHOD3_ENST00000590592.1_Missense_Mutation_p.S621L|FHOD3_ENST00000359247.4_Missense_Mutation_p.S446L|FHOD3_ENST00000591635.1_Intron	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	446					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTTCTCACATCATCCTTCAGG	0.488000													19	35					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248409	59248409	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:59248409C>T	ENST00000371222.2	-	1	1376	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	112					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	p.E112Q(1)|p.E112K(1)		breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	ACGAAGCCCTCGGCGAAGCCC	0.672000			A		sarcoma								27	40					0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201371598	201371598	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:201371598G>C	ENST00000359878.3	-	2	652	c.142C>G	c.(142-144)Cta>Gta	p.L48V	KCTD18_ENST00000409157.1_Missense_Mutation_p.L48V|KCTD18_ENST00000468413.1_5'UTR	NM_152387.2	NP_689600.2	Q6PI47	KCD18_HUMAN	potassium channel tetramerization domain containing 18	48	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTGTTTTTAGAGGAAAGCGA	0.438000													12	55					0	0	1	0	0
SPPL2A	84888	broad.mit.edu	37	15	51017514	51017514	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:51017514C>T	ENST00000261854.5	-	12	1427	c.1153G>A	c.(1153-1155)Gta>Ata	p.V385I	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	385						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGATGACTACTGGCAACTGT	0.353000													13	94					0	0	1	0	0
USP18	11274	broad.mit.edu	37	22	18640324	18640324	+	Splice_Site	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:18640324G>T	ENST00000215794.7	+	2	324		c.e2-1			NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18						regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TATTTTCACAGAGATTCCATC	0.507000											OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	116					0.00316338	0.00319943	1	1	0
RAB3GAP2	25782	broad.mit.edu	37	1	220379331	220379331	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:220379331G>C	ENST00000358951.2	-	8	746	c.630C>G	c.(628-630)atC>atG	p.I210M		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	210					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTGGATATAAGATACTCAACT	0.289000													6	21					0	0	1	0	0
TRIM73	375593	broad.mit.edu	37	7	75028277	75028277	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:75028277G>A	ENST00000323819.3	+	2	260	c.60G>A	c.(58-60)ctG>ctA	p.L20L	TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000430211.1_Silent_p.L20L|TRIM73_ENST00000447409.2_Silent_p.L20L|TRIM73_ENST00000437796.1_Silent_p.L20L	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	20						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCATCTGCCTGGAGGTCTTCA	0.617000													5	66					0	0	1	0	0
LSM12	124801	broad.mit.edu	37	17	42117554	42117554	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:42117554G>A	ENST00000591247.1	-	4	651	c.329C>T	c.(328-330)tCt>tTt	p.S110F	LSM12_ENST00000585388.1_Missense_Mutation_p.S110F|LSM12_ENST00000293406.3_Missense_Mutation_p.S110F	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	110							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCCTCTAGAGAGACACCAGC	0.547000													14	46					0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442401	61442401	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:61442401G>A	ENST00000261249.6	-	4	1620	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	412						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		CTATGGGAAGGAACTCACTGC	0.473000													13	63					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103182613	103182613	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:103182613C>G	ENST00000375735.2	+	79	11644	c.11500C>G	c.(11500-11502)Cca>Gca	p.P3834A	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.P3841A|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3834	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTAGTCACCTCCAGGTTTAAA	0.299000													4	14					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030933	32030933	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:32030933G>C	ENST00000360311.4	+	2	911	c.362G>C	c.(361-363)aGa>aCa	p.R121T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GAAGACAAAAGAAATAGCCAT	0.373000													9	46					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4816629	4816629	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:4816629G>C	ENST00000248244.5	-	2	1990	c.1761C>G	c.(1759-1761)ctC>ctG	p.L587L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	587	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AAGCCACCTGGAGCTGCTCCA	0.642000													17	57					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69381705	69381705	+	Missense_Mutation	SNP	G	G	C	rs117823350	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:69381705G>C	ENST00000288025.3	-	3	530	c.475C>G	c.(475-477)Ctg>Gtg	p.L159V	RP11-343C2.7_ENST00000564737.1_Missense_Mutation_p.S151C|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	159					transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ATTGCATCCAGAGTATCATTC	0.413000													53	124					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42284917	42284917	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:42284917C>T	ENST00000302904.4	-	20	2566	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.E655K|UBTF_ENST00000527034.1_Missense_Mutation_p.M653I|UBTF_ENST00000436088.1_Missense_Mutation_p.E692K|UBTF_ENST00000529383.1_Missense_Mutation_p.E692K|UBTF_ENST00000533177.1_Missense_Mutation_p.E655K|UBTF_ENST00000343638.5_Missense_Mutation_p.E655K|UBTF_ENST00000393606.3_Missense_Mutation_p.E655K			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	692	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		tcctcttcttcatcctcgtcc	0.572000													5	36					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665358	138665358	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:138665358C>G	ENST00000330315.3	-	1	624	c.207G>C	c.(205-207)gaG>gaC	p.E69D		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	69			E -> K (in BPES; sporadic; nuclear aggregation; normal transactivation activity).		convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						TCTCCGCGCTCTCGCGGATCG	0.637000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						18	63					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112187118	112187118	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:112187118C>T	ENST00000455480.2	+	19	3056	c.2879C>T	c.(2878-2880)tCa>tTa	p.S960L	ACAD10_ENST00000313698.4_Missense_Mutation_p.S929L	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	929							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						ATCGGGTTCTCAGAGAGGGCC	0.612000													23	56					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354821	32354821	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:32354821C>T	ENST00000375200.1	+	9	1752	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ZNF341_ENST00000342427.2_Missense_Mutation_p.H456Y	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCTCAAGTCTCACATGACCCA	0.562000													54	190					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9868505	9868505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:9868505G>A	ENST00000256190.8	-	23	3069	c.2932C>T	c.(2932-2934)Cag>Tag	p.Q978*	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	978					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTAATACCTGAAAAGATGCT	0.378000													32	70					0	0	1	0	0
ZNF778	197320	broad.mit.edu	37	16	89289580	89289580	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:89289580G>C	ENST00000433976.2	+	4	465	c.133G>C	c.(133-135)Gac>Cac	p.D45H	ZNF778_ENST00000306502.6_5'UTR	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGTGACCTTTGACGACGTGGC	0.527000													20	66					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8989549	8989549	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:8989549C>T	ENST00000344836.4	-	27	3067	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	USP7_ENST00000381886.4_Missense_Mutation_p.E941K|USP7_ENST00000535863.1_Missense_Mutation_p.E858K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	957					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCTAATAGTTCATCTTCTTGA	0.398000													19	39					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1127632	1127632	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:1127632C>T	ENST00000361757.3	-	5	649	c.412G>A	c.(412-414)Gat>Aat	p.D138N	SBNO2_ENST00000438103.2_Missense_Mutation_p.D81N|SBNO2_ENST00000587024.1_Missense_Mutation_p.D138N	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	138					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGGTTATCGTCCCAGATG	0.682000													17	54					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123099619	123099619	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:123099619C>G	ENST00000333479.7	+	56	6136	c.5959C>G	c.(5959-5961)Ctg>Gtg	p.L1987V	KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000450485.2_Missense_Mutation_p.L912V|KNTC1_ENST00000537348.1_Missense_Mutation_p.L412V	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1987					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)		GCAAAAGCTTCTGGGCTTCAA	0.383000													4	21					0	0	1	0	0
MRPS28	28957	broad.mit.edu	37	8	80942405	80942405	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:80942405G>A	ENST00000276585.4	-	1	101	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Missense_Mutation_p.R27W|MRPS28_ENST00000522987.1_5'UTR	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	27						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CCTACACCCCGAAAGGGCCTG	0.587000													10	34					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155742930	155742930	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155742930C>T	ENST00000437809.1	-	18	2544	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	GON4L_ENST00000271883.5_Missense_Mutation_p.E808K|GON4L_ENST00000368331.1_Missense_Mutation_p.E808K|GON4L_ENST00000361040.5_Missense_Mutation_p.E808K|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	808					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAAGTAACTCTGGATACATG	0.428000													27	86					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788249	80788249	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:80788249C>T	ENST00000269394.3	-	3	2774	c.1941G>A	c.(1939-1941)agG>agA	p.R647R	ZNF750_ENST00000572562.1_Silent_p.R248R|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	647						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCCGGATGTTCCTGGGGCTGT	0.692000													8	89					0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47689240	47689240	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47689240C>T	ENST00000525123.1	-	16	2508	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q	AGBL2_ENST00000357610.3_Silent_p.Q743Q|AGBL2_ENST00000528244.1_Silent_p.Q703Q|AGBL2_ENST00000298861.4_Silent_p.Q741Q	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	741					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTTCTTTTTCTGAGTCAGCT	0.378000													10	53					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11300813	11300813	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:11300813G>A	ENST00000397056.1	+	3	281	c.90G>A	c.(88-90)ctG>ctA	p.L30L	HRH1_ENST00000438284.2_Silent_p.L30L|HRH1_ENST00000431010.2_Silent_p.L30L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	30					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGATGCCCCTGGTGGTGGTCC	0.582000													12	40					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067371	3067371	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:3067371C>T	ENST00000356443.4	-	38	5280	c.4947G>A	c.(4945-4947)aaG>aaA	p.K1649K	MYOM1_ENST00000261606.7_Silent_p.K1553K|MYOM1_ENST00000400569.3_Silent_p.K1649K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1649	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CATACTTGTTCTTCACAACCA	0.592000													23	37					0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154570399	154570399	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:154570399C>G	ENST00000368474.4	-	4	2038	c.1839G>C	c.(1837-1839)aaG>aaC	p.K613N	ADAR_ENST00000368471.3_Missense_Mutation_p.K318N|ADAR_ENST00000292205.5_Missense_Mutation_p.K656N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	613					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGACGGGGCTCTTCCCAGAAA	0.498000													8	35					0	0	1	0	0
PDAP1	11333	broad.mit.edu	37	7	99002502	99002502	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:99002502C>T	ENST00000350498.3	-	2	368	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	30					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	TTCTGCTTCTCAGCCTGCAGC	0.612000													14	35					0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9912780	9912780	+	Nonsense_Mutation	SNP	G	G	T	rs146625316		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:9912780G>T	ENST00000380913.3	+	9	4501	c.4411G>T	c.(4411-4413)Gag>Tag	p.E1471*	SHROOM2_ENST00000418909.2_Nonsense_Mutation_p.E306*	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1471	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCTGGGGGCCGAGGTGGAGGC	0.627000													5	9					0.00198382	0.00201072	1	1	0
SSH2	85464	broad.mit.edu	37	17	27963465	27963465	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:27963465C>G	ENST00000269033.3	-	14	1853	c.1702G>C	c.(1702-1704)Gac>Cac	p.D568H	SSH2_ENST00000540801.1_Missense_Mutation_p.D595H|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	568					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCAATTGTCAAGAGGAAAT	0.408000													29	95					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120596	193120596	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:193120596G>A	ENST00000342695.4	-	30	3758	c.3436C>T	c.(3436-3438)Cag>Tag	p.Q1146*	ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.Q1127*|ATP13A4_ENST00000400270.2_Nonsense_Mutation_p.Q162*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1146					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTTTTGACTGATAGCCGAAA	0.453000													24	52					0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231973559	231973559	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:231973559G>C	ENST00000258400.3	-	4	1630	c.1118C>G	c.(1117-1119)tCa>tGa	p.S373*	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	373					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	ATTCACTCCTGAGGAAACATA	0.388000													10	70					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723780	49723780	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:49723780G>A	ENST00000449682.2	-	8	1343	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	MST1_ENST00000383728.3_Nonsense_Mutation_p.Q253*|MST1_ENST00000545762.1_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	314	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AATCGGTGCTGATGCGGGATT	0.647000													7	14					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57601470	57601470	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:57601470C>T	ENST00000340339.4	+	8	1311	c.788C>T	c.(787-789)tCg>tTg	p.S263L	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.S263L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	263					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ATCGTGGCCTCGCTGATCACA	0.597000													18	27					0	0	1	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935024	73935024	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:73935024G>C	ENST00000423730.3	-	4	851	c.416C>G	c.(415-417)tCt>tGt	p.S139C	KHDC1L_ENST00000370388.3_Missense_Mutation_p.I36M|KHDC1L_ENST00000471312.1_5'UTR																							ACTCACCGAAGATGAGCTCCT	0.502000													8	85					0	0	1	0	0
MIR429	554210	broad.mit.edu	37	1	1104393	1104393	+	RNA	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:1104393G>A	ENST00000362106.1	+	0	9					NR_029957.1																						ACCGCCGGCCGATGGGCGTCT	0.647000													11	21					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	613383	613383	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:613383G>A	ENST00000251287.2	+	6	1773	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	574					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.E574K(1)		endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCCGCGAAGGCACCAT	0.577000													12	37					0	0	1	0	0
RBMX	27316	broad.mit.edu	37	X	135956335	135956335	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:135956335C>T	ENST00000320676.7	-	9	1296	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000570135.1_Missense_Mutation_p.R246Q|RBMX_ENST00000565438.1_Missense_Mutation_p.R253Q	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	381						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCTATCAGATCGGCTTCCTCC	0.498000													21	83					0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160806044	160806044	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:160806044C>G	ENST00000368034.4	-	6	1012	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CD244_ENST00000322302.7_Splice_Site_p.E187Q|CD244_ENST00000368033.3_Splice_Site_p.E284Q|CD244_ENST00000481677.1_Intron|CD244_ENST00000368032.2_Splice_Site_p.E279Q	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	284					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCTGCTCCTGCACAAGA	0.493000													11	40					0	0	1	0	0
PDDC1	347862	broad.mit.edu	37	11	774083	774083	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:774083C>T	ENST00000319863.8	-	3	193	c.172G>A	c.(172-174)Gag>Aag	p.E58K	PDDC1_ENST00000526325.1_Missense_Mutation_p.E58K|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000397472.2_Missense_Mutation_p.E58K|PDDC1_ENST00000524550.1_Missense_Mutation_p.E58K|PDDC1_ENST00000442059.2_Missense_Mutation_p.E8K	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	58						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCATTGCTCTCAGTCACATCC	0.622000													10	22					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155569224	155569224	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:155569224C>A	ENST00000461783.3	+	22	5016	c.3743C>A	c.(3742-3744)cCg>cAg	p.P1248Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.P1248Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.P584Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.P1248Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.P1272Q|TIAM2_ENST00000275246.7_Missense_Mutation_p.P173Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.P560Q|TIAM2_ENST00000367174.2_Missense_Mutation_p.P624Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.P1248Q			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1248	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTCATCAAGCCGGTTCAGAGA	0.592000											OREG0017745	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	37					3.62473e-10	3.86131e-10	1	1	0
SORBS3	10174	broad.mit.edu	37	8	22423978	22423978	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:22423978C>G	ENST00000240123.7	+	13	1454	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	SORBS3_ENST00000523740.1_3'UTR|SORBS3_ENST00000428103.1_Silent_p.V15V|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	357					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGGACTTTGTCTACCCTTCCT	0.612000													11	71					0	0	1	0	0
TTLL6	284076	broad.mit.edu	37	17	46862408	46862408	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:46862408G>A	ENST00000393382.3	-	13	2058	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	TTLL6_ENST00000433608.2_Silent_p.F332F	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	591						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTAGAGAACTGAAGGGCTTCG	0.537000													22	118					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128085	30128085	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30128085G>A	ENST00000484663.1	-	7	1835	c.702C>T	c.(700-702)ttC>ttT	p.F234F	MAPK3_ENST00000403394.1_3'UTR|MAPK3_ENST00000322266.5_Silent_p.F304F|MAPK3_ENST00000263025.4_Silent_p.F348F|MAPK3_ENST00000395200.1_Silent_p.F280F|MAPK3_ENST00000395202.1_Silent_p.F304F			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	348	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GCTCCATGGCGAAGGTGAAGG	0.662000													15	32					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179991854	179991854	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:179991854G>C	ENST00000367607.3	+	13	3675	c.3257G>C	c.(3256-3258)aGa>aCa	p.R1086T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1086						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAGTTGGACAGAGGAACATCA	0.408000													5	23					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949430	58949430	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:58949430G>A	ENST00000423743.3	+	22	3270	c.3012G>A	c.(3010-3012)ccG>ccA	p.P1004P	KIAA0586_ENST00000354386.6_Splice_Site_p.P1101P|KIAA0586_ENST00000261244.5_Splice_Site_p.P972P|KIAA0586_ENST00000556134.1_Splice_Site_p.P1033P|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	972										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATATTTGCCGGTATGGGGAA	0.373000													13	30					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102456341	102456341	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:102456341C>G	ENST00000413150.2	+	10	889	c.834C>G	c.(832-834)ccC>ccG	p.P278P	MAP4K4_ENST00000324219.4_Silent_p.P278P|MAP4K4_ENST00000425019.1_Silent_p.P278P|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Silent_p.P278P|MAP4K4_ENST00000350198.4_Silent_p.P278P|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Silent_p.P258P	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	278	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGCAGCGGCCCTCTACAGAGC	0.393000													13	32					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79660985	79660985	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:79660985C>G	ENST00000329138.4	+	11	1061	c.926C>G	c.(925-927)tCt>tGt	p.S309C		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	309	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGCCTGTACTCTTCACCTGTG	0.632000													6	46					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322647	17322647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:17322647C>A	ENST00000452699.1	-	15	1540	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Nonsense_Mutation_p.E451*|ATP13A2_ENST00000326735.8_Nonsense_Mutation_p.E456*|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	456					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ATTACAATCTCATTCAGAGGC	0.657000													6	71					3.59834e-05	3.70264e-05	1	1	0
PLEKHA4	57664	broad.mit.edu	37	19	49344544	49344544	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:49344544C>A	ENST00000263265.6	-	17	2322	c.1767G>T	c.(1765-1767)atG>atT	p.M589I	PLEKHA4_ENST00000355496.5_Intron	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	589						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCTGGGCACTCATCCGGGGCC	0.657000													3	14					1	1	1	1	0
MKI67	4288	broad.mit.edu	37	10	129902181	129902181	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:129902181C>G	ENST00000368654.3	-	13	8298	c.7923G>C	c.(7921-7923)gaG>gaC	p.E2641D	MKI67_ENST00000368653.3_Missense_Mutation_p.E2281D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2641	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTTTGATGCCCTCATCACCGC	0.498000													23	75					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450212	110450212	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:110450212G>T	ENST00000260283.4	-	16	3742	c.3458C>A	c.(3457-3459)tCt>tAt	p.S1153Y	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S696Y|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1117Y|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1127Y|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1117Y|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1130Y|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1127Y	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1153					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCAAGGCAGAGAACCAGAAGA	0.532000													16	86					2.23348e-06	2.33031e-06	1	1	0
MYO1F	4542	broad.mit.edu	37	19	8609274	8609274	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:8609274C>G	ENST00000338257.8	-	14	1698	c.1431G>C	c.(1429-1431)caG>caC	p.Q477H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	477	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GCAGCAGTGTCTGGTCTGCTC	0.682000													5	13					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70813176	70813176	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:70813176G>A	ENST00000358731.4	+	22	5151	c.4888G>A	c.(4888-4890)Gaa>Aaa	p.E1630K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1630					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AACTGAAATTGAAGTTCCATC	0.299000													8	22					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42622694	42622694	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:42622694G>A	ENST00000330333.6	+	7	1463	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.5_Intron|BACE2_ENST00000328735.6_Missense_Mutation_p.D334N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	334					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGAATTCTCTGATGGTTTCTG	0.493000													23	84					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028864	79028864	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:79028864C>G	ENST00000446378.2	+	2	4307	c.4276C>G	c.(4276-4278)Ccc>Gcc	p.P1426A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1426						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGTGCTTCTCCCATTGAAAC	0.408000													6	13					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155249332	155249332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:155249332G>A	ENST00000357232.4	-	12	2565	c.2566C>T	c.(2566-2568)Caa>Taa	p.Q856*	DCHS2_ENST00000339452.1_Nonsense_Mutation_p.Q1311*	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTACTGGTTGACCTTCCAGA	0.333000													18	42					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2411606	2411606	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:2411606G>A	ENST00000202625.2	+	12	1961	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	TGM6_ENST00000381423.1_Intron	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	634					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCCCTCATAGAGAGAGTGAA	0.602000													33	79					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580342	140580342	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140580342C>A	ENST00000354757.3	+	1	995	c.995C>A	c.(994-996)aCa>aAa	p.T332K	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		332	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAAATCTACAGTCATAATT	0.398000													28	67					2.48779e-11	2.66215e-11	1	1	0
CRTC1	23373	broad.mit.edu	37	19	18885712	18885712	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:18885712C>T	ENST00000338797.6	+	13	1501	c.1476C>T	c.(1474-1476)caC>caT	p.H492H	CRTC1_ENST00000594658.1_Silent_p.H435H|CRTC1_ENST00000321949.8_Silent_p.H476H|CRTC1_ENST00000601916.1_Intron	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	476					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GTCTGCAGCACACTTCCACCC	0.657000													5	38					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548751	28548751	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28548751G>C	ENST00000401766.2	-	2	738	c.226C>G	c.(226-228)Caa>Gaa	p.Q76E	SLC6A4_ENST00000261707.3_Missense_Mutation_p.Q76E			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	76					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CGTTCCCCTTGATGAAGCTCA	0.552000													22	164					0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413354	124413354	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:124413354G>C	ENST00000306842.2	-	1	221	c.197C>G	c.(196-198)tCt>tGt	p.S66C		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		ATCTATTAAAGAGAGGTTAAA	0.453000													10	45					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043227	153043227	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:153043227C>A	ENST00000367245.5	+	2	555	c.547C>A	c.(547-549)Cag>Aag	p.Q183K	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	183						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AACTGAGAGTCAGCTGGTGAC	0.488000													21	41					0.000175454	0.00017937	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49669982	49669982	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:49669982C>G	ENST00000561648.1	-	4	3134	c.3081G>C	c.(3079-3081)caG>caC	p.Q1027H	ZNF423_ENST00000563137.2_Missense_Mutation_p.Q967H|ZNF423_ENST00000567169.1_Missense_Mutation_p.Q910H|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q1027H|ZNF423_ENST00000562520.1_Missense_Mutation_p.Q967H|ZNF423_ENST00000535559.1_Missense_Mutation_p.Q910H|ZNF423_ENST00000562871.1_Missense_Mutation_p.Q967H	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1027					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AAGTGACTGTCTGCATGCAGA	0.612000													4	36					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238525	48238525	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:48238525C>T	ENST00000309562.2	+	1	182	c.164C>T	c.(163-165)tCt>tTt	p.S55F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTCTGGATTCTCCCATGTAC	0.483000													14	102					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085732	9085732	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:9085732G>C	ENST00000397910.4	-	1	6286	c.6083C>G	c.(6082-6084)tCt>tGt	p.S2028C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2028	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2028F(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAATATGGAGAGGATGTGCT	0.488000													9	57					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93621791	93621791	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:93621791C>G	ENST00000371627.4	+	26	3696	c.3317C>G	c.(3316-3318)tCt>tGt	p.S1106C		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1106	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTGGGAAAGTCTTTCCTGCAG	0.428000													52	95					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864185	47864185	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:47864185C>G	ENST00000396105.1	-	14	5622	c.5376G>C	c.(5374-5376)caG>caC	p.Q1792H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.Q1792H|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1792							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAGGATATTCTGGACACTAT	0.468000													13	111					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219363	155219363	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:155219363C>T	ENST00000357232.4	-	18	4737	c.4738G>A	c.(4738-4740)Gat>Aat	p.D1580N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1580N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAAACTGGATCATTGTCATTA	0.443000													9	69					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141577	103141577	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:103141577G>A	ENST00000295269.4	+	10	2370	c.1913G>A	c.(1912-1914)aGc>aAc	p.S638N		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	638					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTAAGGGAGAGCATGAGGAAA	0.532000													28	111					0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2252675	2252675	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2252675C>T	ENST00000300961.6	-	7	713	c.649G>A	c.(649-651)Gag>Aag	p.E217K	JSRP1_ENST00000586471.2_Missense_Mutation_p.E217K	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1							sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGTGGCCTCGCCGGGCTCC	0.711000													16	79					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35578906	35578906	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:35578906G>A	ENST00000373330.1	+	11	1649	c.1475G>A	c.(1474-1476)aGa>aAa	p.R492K	ZMYM1_ENST00000359858.4_Missense_Mutation_p.R492K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	492						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCTGTGGAAGAGAGTCATTT	0.348000													15	68					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73975073	73975073	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:73975073C>T	ENST00000293217.5	-	1	371	c.82G>A	c.(82-84)Gag>Aag	p.E28K	ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000537812.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.E28K	NM_004035.6	NP_004026.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	28					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CGGGTTTTCTCGGGGCTGCCG	0.672000													5	91					0	0	1	0	0
OR9I1	219954	broad.mit.edu	37	11	57886551	57886551	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:57886551G>A	ENST00000302610.1	-	1	365	c.366C>T	c.(364-366)cgC>cgT	p.R122R	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGGCAGCATAGCGATCATAGG	0.552000													10	30					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639687	97639687	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:97639687G>C	ENST00000298440.1	-	4	570	c.327C>G	c.(325-327)atC>atG	p.I109M	OXGR1_ENST00000543457.1_Missense_Mutation_p.I109M	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	109						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			AGCTGAAGCGGATAAACTTAC	0.468000													5	45					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85598427	85598427	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:85598427G>A	ENST00000322366.6	-	66	10738	c.10331C>T	c.(10330-10332)tCa>tTa	p.S3444L	WDFY3_ENST00000295888.4_Missense_Mutation_p.S3461L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3461						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CGAGCAGCCTGAGCAGCTGTC	0.522000													15	49					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65733982	65733982	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:65733982G>A	ENST00000253247.4	+	13	1538	c.1423G>A	c.(1423-1425)Gag>Aag	p.E475K	NOL11_ENST00000535137.1_Missense_Mutation_p.E293K	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	475						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGACTTAATGGAGATTGCCTT	0.343000													15	117					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60472495	60472495	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:60472495C>A	ENST00000450662.2	+	8	661	c.590C>A	c.(589-591)tCa>tAa	p.S197*	EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.S145*	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	145							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GAAATCCTATCAAGGCTTCTA	0.383000													21	115					1.22574e-08	1.29601e-08	1	1	0
SARNP	84324	broad.mit.edu	37	12	56194413	56194413	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:56194413C>G	ENST00000546837.1	-	9	1120	c.1121G>C	c.(1120-1122)gGa>gCa	p.G374A	SARNP_ENST00000444631.2_Splice_Site_p.E2Q|SARNP_ENST00000336133.3_Splice_Site_p.E62Q|SARNP_ENST00000552080.1_Splice_Site_p.E62Q																							GTTTCTTCTTCCTAAAACCAA	0.343000													18	58					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240579	39240579	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:39240579C>T	ENST00000391417.4	+	1	121	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CACCTGCTACCGCCCCAGCTG	0.652000													11	51					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475885	52475885	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:52475885C>A	ENST00000231721.2	-	5	499	c.500G>T	c.(499-501)cGg>cTg	p.R167L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	167	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCACCGCCCCCGGCCACTTTC	0.667000													4	6					0.00909568	0.0091732	1	1	0
CDK17	5128	broad.mit.edu	37	12	96676350	96676350	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:96676350C>T	ENST00000261211.3	-	15	1996	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	CDK17_ENST00000542666.1_Missense_Mutation_p.E412K|CDK17_ENST00000543119.2_Missense_Mutation_p.E465K	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	465	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ATGGCCTCTTCAGCTGAAACC	0.363000													20	51					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33014701	33014701	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:33014701C>G	ENST00000280979.4	+	4	1012	c.842C>G	c.(841-843)tCt>tGt	p.S281C	AKAP6_ENST00000557354.1_Missense_Mutation_p.S281C|AKAP6_ENST00000557272.1_Missense_Mutation_p.S281C	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	281					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GCTGCTGACTCTATCTCTACC	0.453000													10	86					0	0	1	0	0
UBE2R2	54926	broad.mit.edu	37	9	33912012	33912012	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:33912012C>G	ENST00000263228.3	+	4	604	c.413C>G	c.(412-414)tCc>tGc	p.S138C		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	138					protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		AACACCTTCTCCCCAGCCAAT	0.358000													39	48					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570080	241570080	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:241570080G>C	ENST00000319838.5	+	6	1653	c.711G>C	c.(709-711)ctG>ctC	p.L237L	GPR35_ENST00000430267.1_Silent_p.L237L|GPR35_ENST00000403859.1_Silent_p.L237L|GPR35_ENST00000438013.2_Silent_p.L268L|GPR35_ENST00000407714.1_Silent_p.L237L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	237						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGTGGGGCTGACAGTGCGCC	0.667000													6	54					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590074	47590074	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:47590074C>G	ENST00000172229.3	+	6	1112	c.987C>G	c.(985-987)ctC>ctG	p.L329L	NGFR_ENST00000504201.1_Silent_p.L235L|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	329	Mediates interaction with KIDINS220 (By similarity).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					CTGCAGCCCTCAAGGGTGACG	0.647000													7	92					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262404	39262404	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:39262404G>T	ENST00000280481.7	+	1	1139	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	308					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTCTGGTGAGGATCCGAGGA	0.602000													25	45					5.35356e-11	5.72013e-11	1	1	0
EFCAB4A	283229	broad.mit.edu	37	11	828921	828921	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:828921C>T	ENST00000450448.1	+	3	740	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	EFCAB4A_ENST00000525077.1_Missense_Mutation_p.H79Y|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.H79Y|AP006621.8_ENST00000532946.1_RNA	NM_173584.3	NP_775855.3	Q8N4Y2	EFC4A_HUMAN	EF-hand calcium binding domain 4A	79	EF-hand 2.				store-operated calcium entry		calcium ion binding			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGACCGGGCTCACACTGGCTT	0.657000													17	48					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33194455	33194455	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:33194455G>A	ENST00000309558.3	-	5	2086	c.1669C>T	c.(1669-1671)Ccc>Tcc	p.P557S		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	557					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						TCCAAGGTGGGATGAAGCTCC	0.592000													3	22					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713554	23713554	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:23713554C>T	ENST00000256797.4	-	11	1434	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	ERN2_ENST00000457008.2_Silent_p.L374L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	374					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGGACCCTCAGCATGGTGG	0.597000													16	100					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182423376	182423376	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:182423376C>G	ENST00000410087.3	-	5	837	c.737G>C	c.(736-738)aGa>aCa	p.R246T	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000339098.5_Missense_Mutation_p.R272T|CERKL_ENST00000409440.3_Missense_Mutation_p.R228T	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	272	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R246I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTCTGAGCTCTCAGAAGCAA	0.473000													15	57					0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832431	42832431	+	RNA	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:42832431A>G	ENST00000609841.1	-	0	1472					NR_024380.1																						TCTTGTGTATAGTAAGGTTTG	0.373000													3	19					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64624834	64624834	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:64624834C>G	ENST00000371079.1	+	8	1720	c.1345C>G	c.(1345-1347)Caa>Gaa	p.Q449E	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	449					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CGTCAGAGGTCAAAATGTAGA	0.448000													17	53					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277372	95277372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:95277372G>A	ENST00000344604.5	-	4	744	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	ECM2_ENST00000444490.2_Nonsense_Mutation_p.Q177*|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	199					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATTCCCACCTGAGGAGGTGGC	0.398000													57	63					0	0	1	0	0
GADD45GIP1	90480	broad.mit.edu	37	19	13065324	13065324	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:13065324C>G	ENST00000316939.1	-	2	390	c.367G>C	c.(367-369)Gag>Cag	p.E123Q		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	123					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						GCCATGCACTCTGCGATGTGC	0.617000													7	49					0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13435107	13435107	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:13435107C>G	ENST00000278174.5	-	6	1023	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q	BTBD10_ENST00000530907.1_Missense_Mutation_p.E268Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.E212Q	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	260						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GTGCTATATTCAAAAGAGATA	0.323000													34	62					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75969360	75969360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:75969360G>A	ENST00000308508.5	-	10	5592	c.5500C>T	c.(5500-5502)Cag>Tag	p.Q1834*	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1834	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCTGTGGCTGAGGGGGCCGC	0.677000													3	1					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51122411	51122411	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:51122411C>G	ENST00000301180.5	+	30	3625	c.3591C>G	c.(3589-3591)atC>atG	p.I1197M		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1197						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGATCGCCATCTGCCTTGACC	0.522000													13	65					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23556629	23556629	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:23556629G>C	ENST00000300619.7	-	3	373	c.168C>G	c.(166-168)ctC>ctG	p.L56L	ZNF91_ENST00000397082.2_Intron|ZNF91_ENST00000599743.1_Silent_p.L56L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	56	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTGGCTTAGAGAGAGCAATAC	0.398000													16	53					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89018057	89018057	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:89018057G>C	ENST00000263321.5	+	4	1803	c.1301G>C	c.(1300-1302)aGa>aCa	p.R434T		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	434			R -> I (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCACTGTACAGAAATGGTGAT	0.403000													19	60					0	0	1	0	0
PMF1	11243	broad.mit.edu	37	1	156182942	156182942	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:156182942C>A	ENST00000368277.3	+	1	145	c.136C>A	c.(136-138)Ctt>Att	p.L46I	PMF1_ENST00000565805.1_Missense_Mutation_p.L46I|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.L46I|PMF1_ENST00000368273.4_Missense_Mutation_p.L46I|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.L46I|PMF1_ENST00000567140.1_Missense_Mutation_p.L46I|PMF1_ENST00000368279.3_Missense_Mutation_p.L46I|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.L46I	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					GGACACTTTTCTTCAGAAGCT	0.592000													7	53					0.0293803	0.0295259	1	1	0
BRD2	6046	broad.mit.edu	37	6	32948366	32948366	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:32948366G>C	ENST00000395289.2	+	14	3983	c.2382G>C	c.(2380-2382)gaG>gaC	p.E794D	BRD2_ENST00000374831.4_Missense_Mutation_p.E759D|BRD2_ENST00000443797.2_Missense_Mutation_p.E639D|BRD2_ENST00000395287.1_Missense_Mutation_p.E794D|BRD2_ENST00000449085.2_Missense_Mutation_p.E712D|BRD2_ENST00000374825.4_Missense_Mutation_p.E759D			P25440	BRD2_HUMAN	bromodomain containing 2	759	ET.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CAGCGAATGAGAAAACAGAGT	0.463000													11	25					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184677424	184677424	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:184677424C>T	ENST00000318130.8	-	17	2166	c.1900G>A	c.(1900-1902)Gaa>Aaa	p.E634K	EDEM3_ENST00000466392.1_Intron|EDEM3_ENST00000367512.3_Missense_Mutation_p.E591K	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	634					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTTGACAATTCAATCATCTCC	0.428000													27	64					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39853090	39853090	+	Missense_Mutation	SNP	C	C	G	rs151008241		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:39853090C>G	ENST00000564288.1	+	58	15353	c.14576C>G	c.(14575-14577)tCt>tGt	p.S4859C	MACF1_ENST00000372915.3_Missense_Mutation_p.S4864C|MACF1_ENST00000539005.1_Missense_Mutation_p.S2776C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2797C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2797C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4896C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2797C|MACF1_ENST00000289893.4_Missense_Mutation_p.S3299C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4864					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.S2797C(1)|p.S3299C(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAGGGGAATCTCTACTTCTT	0.433000													37	130					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30652783	30652783	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:30652783G>C	ENST00000274853.3	-	1	2889	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.S338C	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	338						cytoplasm|cytoskeleton	actin binding										AGCCTTCCCGGAGTTCAGGGT	0.572000													59	63					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486156	94486156	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:94486156C>T	ENST00000375708.3	-	9	2818	c.2620G>A	c.(2620-2622)Gtc>Atc	p.V874I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	874	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCGTGGTGACGTAGCCTGTG	0.642000													29	70					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148703136	148703136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:148703136G>A	ENST00000286091.4	-	8	1373	c.1141C>T	c.(1141-1143)Cag>Tag	p.Q381*		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	381					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCCGAGTCCTGGGTGGAGCCC	0.597000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	14					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29912276	29912276	+	Splice_Site	SNP	G	G	C	rs45540334		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:29912276G>C	ENST00000396634.1	+	7	1236		c.e7-1		HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site			P30443	1A01_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.?(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCTTTTCCCAGAGCTGTCTTC	0.587000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			12	26					0	0	1	0	0
MYCL	4610	broad.mit.edu	37	1	40363069	40363069	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:40363069C>G	ENST00000397332.2	-	3	1284	c.1160G>C	c.(1159-1161)aGa>aCa	p.R387T	MYCL_ENST00000372816.2_Missense_Mutation_p.R357T	NM_001033081.2|NM_001033082.2	NP_001028253.1|NP_001028254.2			v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog																		GTATGCAATTCTTTTCTGCAA	0.478000													24	75					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64627438	64627438	+	Silent	SNP	G	G	A	rs149085797		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64627438G>A	ENST00000320631.3	-	3	1127	c.873C>T	c.(871-873)ctC>ctT	p.L291L	EHD1_ENST00000359393.2_Silent_p.L291L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	291					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGAGCTTCCTGAGGGCGGCGT	0.637000													8	45					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198265453	198265453	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:198265453C>T	ENST00000335508.6	-	18	2795	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.E902K(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTAGTCTGTTCTTGGAAAGCA	0.318000			Mis		myelodysplastic syndrome								16	33					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207510111	207510111	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:207510111C>G	ENST00000367064.3	+	7	1185	c.927C>G	c.(925-927)gtC>gtG	p.V309V	CD55_ENST00000367062.4_Silent_p.V309V|CD55_ENST00000367065.5_Silent_p.V309V|CD55_ENST00000391920.4_Silent_p.V309V|CD55_ENST00000391921.4_Silent_p.V245V|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367063.2_Silent_p.V309V|CD55_ENST00000314754.8_Silent_p.V309V	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	309	Ser/Thr-rich.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	CTACAGAAGTCTCACCAACTT	0.408000													18	51					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183849901	183849901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:183849901G>T	ENST00000304685.4	+	6	1131	c.682G>T	c.(682-684)Gag>Tag	p.E228*	RGL1_ENST00000536277.1_Nonsense_Mutation_p.E191*|RGL1_ENST00000539189.1_Nonsense_Mutation_p.E193*|RGL1_ENST00000360851.3_Nonsense_Mutation_p.E193*	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AAATCTTCTTGAGCAGTTTCA	0.493000													4	55					1	1	1	1	0
RYR2	6262	broad.mit.edu	37	1	237817707	237817707	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:237817707C>G	ENST00000366574.2	+	52	8275	c.7958C>G	c.(7957-7959)tCt>tGt	p.S2653C	RYR2_ENST00000542537.1_Missense_Mutation_p.S2637C|RYR2_ENST00000360064.6_Missense_Mutation_p.S2651C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2653	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGCCCTGTCTCAAAAGGTA	0.383000													3	17					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537411	75537411	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:75537411G>C	ENST00000524913.1	+	2	624	c.135G>C	c.(133-135)ttG>ttC	p.L45F	ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.L45F|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.L45F	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	45																	AGCAGTCCTTGAAGGGGCACC	0.488000													37	75					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885533	60885533	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:60885533G>T	ENST00000252999.3	-	76	10608	c.10542C>A	c.(10540-10542)atC>atA	p.I3514I		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3514					angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.I3514N(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGGCCCAAGATGCAGGGTG	0.662000													14	56					4.14922e-12	4.46694e-12	1	1	0
FBN2	2201	broad.mit.edu	37	5	127782207	127782207	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:127782207G>C	ENST00000508053.1	-	13	1893	c.919C>G	c.(919-921)Cac>Gac	p.H307D	FBN2_ENST00000508989.1_Missense_Mutation_p.H274D|FBN2_ENST00000262464.4_Missense_Mutation_p.H307D			P35556	FBN2_HUMAN	fibrillin 2	307	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCTGTTTGTGACCAGCAGGG	0.433000													18	75					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46979843	46979843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:46979843G>T	ENST00000371253.2	-	10	1231	c.1016C>A	c.(1015-1017)tCa>tAa	p.S339*	GPR110_ENST00000283297.5_Nonsense_Mutation_p.S142*|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	339					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CACTGTGGTTGATGGGTTTTG	0.463000													16	55					2.31682e-05	2.39439e-05	1	1	0
WASF3	10810	broad.mit.edu	37	13	27257036	27257036	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:27257036G>A	ENST00000361042.4	+	9	1492	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K	WASF3_ENST00000335327.5_Missense_Mutation_p.E426K			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	426					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCAGTAGCTGAGGCGAAGCG	0.657000													54	75					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52720810	52720810	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:52720810G>C	ENST00000418458.1	+	2	212	c.39G>C	c.(37-39)atG>atC	p.M13I	GNL3_ENST00000394799.2_Start_Codon_SNP_p.M1I|GNL3_ENST00000460073.1_Intron	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	13	Basic (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GTAAACGCATGACCTGCCATA	0.383000													5	55					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13214645	13214645	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:13214645C>G	ENST00000197268.8	+	4	789	c.669C>G	c.(667-669)atC>atG	p.I223M		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	223						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CTGAAACCATCTGCCTTGTGA	0.493000													6	46					0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088108	57088108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:57088108C>A	ENST00000330619.8	+	6	997	c.311C>A	c.(310-312)tCa>tAa	p.S104*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.S104*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		GTGACCAAATCATTATCTTTA	0.318000													11	63					2.68362e-12	2.8935e-12	1	1	0
TAS1R3	83756	broad.mit.edu	37	1	1266858	1266858	+	Missense_Mutation	SNP	G	G	A	rs137986343		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:1266858G>A	ENST00000339381.5	+	1	165	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	45					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CCCCCTGGGCGAGGCCGAGGA	0.697000													8	11					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38016283	38016283	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:38016283G>C	ENST00000406772.1	+	6	775	c.123G>C	c.(121-123)aaG>aaC	p.K41N	GGA1_ENST00000337437.4_Missense_Mutation_p.K81N|GGA1_ENST00000381756.5_Missense_Mutation_p.K131N|GGA1_ENST00000325180.8_Missense_Mutation_p.K114N|GGA1_ENST00000343632.4_Missense_Mutation_p.K114N	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	114	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGAAGAACAAGATCTTGGAGC	0.562000													17	75					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181595	128181595	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:128181595G>A	ENST00000469083.1	-	2	3051	c.494C>T	c.(493-495)tCa>tTa	p.S165L	DNAJB8_ENST00000319153.3_Missense_Mutation_p.S165L			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	165					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGAGGTGGATGAGAAGGTGGT	0.607000													7	39					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101916697	101916697	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:101916697G>A	ENST00000437600.4	+	15	1662	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	CUX1_ENST00000547394.2_Missense_Mutation_p.R423K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.R393K|CUX1_ENST00000292538.4_Missense_Mutation_p.R439K|CUX1_ENST00000393824.3_Missense_Mutation_p.R400K	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	297					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ACTGAGCAGAGAGAGCTGATC	0.642000													5	23					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864404	47864404	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:47864404C>T	ENST00000396105.1	-	14	5403	c.5157G>A	c.(5155-5157)ctG>ctA	p.L1719L	ZNFX1_ENST00000371752.1_Silent_p.L1719L|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1719							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCATCTTTTTCAGGGAATCCC	0.502000													21	192					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911287	202911287	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:202911287C>A	ENST00000340990.5	-	7	1163	c.865G>T	c.(865-867)Gag>Tag	p.E289*	ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E289*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	289					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			ACAAAGCCCTCAGCGATAGTA	0.532000													8	72					0.00307968	0.00311922	1	1	0
CDK12	51755	broad.mit.edu	37	17	37687209	37687209	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:37687209G>A	ENST00000447079.4	+	14	4146	c.4113G>A	c.(4111-4113)gtG>gtA	p.V1371V	CDK12_ENST00000430627.2_Silent_p.V1362V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1371					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGACCCTGGTGAAGAACAGGA	0.552000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			23	29					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355279	70355279	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:70355279C>G	ENST00000305107.6	-	3	926	c.880G>C	c.(880-882)Gag>Cag	p.E294Q	UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158Q|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294Q	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	294					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAAACTCTTCCATTTCC	0.378000													29	119					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15729076	15729076	+	RNA	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:15729076C>A	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCTTCTCTCTCAGCCACCTTC	0.537000													5	15					0.000602214	0.000613007	1	1	0
APOA1	335	broad.mit.edu	37	11	116707814	116707814	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:116707814C>G	ENST00000236850.4	-	3	468	c.103G>C	c.(103-105)Gtg>Ctg	p.V35L	AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375329.2_Intron|APOA1_ENST00000375323.1_Missense_Mutation_p.V35L|APOA1_ENST00000359492.2_Missense_Mutation_p.V35L|APOA1_ENST00000375320.1_Missense_Mutation_p.V35L	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	35					Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGTCCTTCACTCGATCCCAG	0.592000													14	70					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178937410	178937410	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:178937410G>A	ENST00000263967.3	+	12	1955	c.1798G>A	c.(1798-1800)Gaa>Aaa	p.E600K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	600	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGGCTATGGAACTTCTGGA	0.363000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	30					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413133	105413133	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:105413133G>A	ENST00000333244.5	-	7	8774	c.8655C>T	c.(8653-8655)caC>caT	p.H2885H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2885						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)			CCTCGGGAACGTGGCCCTCTG	0.612000													68	172					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37429433	37429433	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:37429433G>A	ENST00000399215.1	-	2	1515	c.143C>T	c.(142-144)tCa>tTa	p.S48L	SETD4_ENST00000399205.1_Missense_Mutation_p.S24L|SETD4_ENST00000399208.2_Missense_Mutation_p.S48L|SETD4_ENST00000399212.1_Missense_Mutation_p.S24L|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399207.1_Missense_Mutation_p.S48L|SETD4_ENST00000332131.4_Missense_Mutation_p.S48L|SETD4_ENST00000399201.1_Missense_Mutation_p.S24L			Q9NVD3	SETD4_HUMAN	SET domain containing 4	48	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CGCTAAGTTTGAATCTTGAAA	0.483000													29	79					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43283967	43283967	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:43283967C>G	ENST00000511537.1	-	0	968					NR_033868.1																						ATCAGCCATTCTGATGCACTC	0.463000													10	38					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:43452198C>A	ENST00000282388.3	-	2	1038	c.745G>T	c.(745-747)Gag>Tag	p.E249*	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	249					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.751000													5	14					3.59834e-05	3.70264e-05	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71736618	71736618	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:71736618C>T	ENST00000393524.2	-	2	1034	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	PHLPP2_ENST00000568954.1_Missense_Mutation_p.E101K|PHLPP2_ENST00000356272.3_Missense_Mutation_p.E101K|PHLPP2_ENST00000567016.1_Missense_Mutation_p.E136K|PHLPP2_ENST00000360429.3_Missense_Mutation_p.E101K			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	101						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAGGTCGTTCAGTAGGTTCC	0.343000													21	52					0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142780229	142780229	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:142780229C>T	ENST00000343796.2	-	2	1169	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	NR3C1_ENST00000394466.2_Missense_Mutation_p.R59Q|NR3C1_ENST00000503201.1_Missense_Mutation_p.R59Q|NR3C1_ENST00000504572.1_Missense_Mutation_p.R59Q|NR3C1_ENST00000231509.3_Missense_Mutation_p.R59Q|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_Missense_Mutation_p.R59Q|NR3C1_ENST00000394464.2_Missense_Mutation_p.R59Q|NR3C1_ENST00000415690.2_Missense_Mutation_p.R59Q	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	59	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.R59fs*12(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CAAAAGTCTTCGCTGCTTGGA	0.478000													17	104					0	0	1	0	0
MIR181B1	406955	broad.mit.edu	37	1	198828083	198828083	+	RNA	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:198828083G>C	ENST00000385240.1	-	0	28					NR_029612.1																						TGTTGATTGTGACCTTTTAAA	0.453000													27	107					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842774	128842774	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:128842774G>C	ENST00000310343.9	-	21	3584	c.3585C>G	c.(3583-3585)gtC>gtG	p.V1195V	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.V846V|ARHGAP32_ENST00000392657.3_Silent_p.V846V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1195					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCAAGAAGGAGACAGTTGGCA	0.463000													20	66					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109715115	109715115	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:109715115G>C	ENST00000369939.3	+	5	804	c.621G>C	c.(619-621)caG>caC	p.Q207H	KIAA1324_ENST00000529753.1_Missense_Mutation_p.Q207H	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	207					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTCAGGTTCAGAATGACCAGT	0.502000													8	20					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35723321	35723321	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:35723321G>C	ENST00000382034.5	+	8	847	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	TOM1_ENST00000436462.2_Missense_Mutation_p.E198Q|TOM1_ENST00000411850.1_Missense_Mutation_p.E236Q|TOM1_ENST00000447733.1_Missense_Mutation_p.E203Q|TOM1_ENST00000425375.1_Missense_Mutation_p.E191Q|TOM1_ENST00000449058.2_Missense_Mutation_p.E236Q			O60784	TOM1_HUMAN	target of myb1 (chicken)	236					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GGTGATGTCGGAGATGCTGAC	0.617000													9	41					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868373	97868373	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:97868373C>T	ENST00000437310.1	+	1	204	c.144C>T	c.(142-144)gtC>gtT	p.V48V		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGATTGCTGTCATCTGGAAAG	0.413000													78	231					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026120	176026120	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:176026120C>G	ENST00000303991.4	-	2	893	c.716G>C	c.(715-717)aGa>aCa	p.R239T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	239						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCACCTTTCTCAAAGACCC	0.488000													20	121					0	0	1	0	0
PGAM2	5224	broad.mit.edu	37	7	44104801	44104801	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:44104801C>G	ENST00000297283.3	-	1	385	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	110					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						TTCACCTGCTCCTCCCCGTGC	0.627000													20	43					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47201023	47201023	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47201023G>C	ENST00000539589.1	-	7	1060	c.718C>G	c.(718-720)Ctt>Gtt	p.L240V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.L240V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	240					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						TTGAAGAAAAGAAGCCGCTGG	0.567000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112610617	112610617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:112610617C>T	ENST00000550722.1	-	67	11600	c.11205G>A	c.(11203-11205)tgG>tgA	p.W3735*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.W3709*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.W3459*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TCTCCAGGGTCCACTTTCTTG	0.617000													27	65					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53275201	53275201	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:53275201C>T	ENST00000462138.1	-	3	374	c.286G>A	c.(286-288)Gag>Aag	p.E96K	TKT_ENST00000423516.1_Missense_Mutation_p.E96K|TKT_ENST00000296289.6_Missense_Mutation_p.E49K|TKT_ENST00000423525.2_Missense_Mutation_p.E96K			P29401	TKT_HUMAN	transketolase	96					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TTCAGCAGCTCCGCCTCGGCC	0.647000													12	28					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332560	144332560	+	Missense_Mutation	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:144332560A>G	ENST00000330701.4	+	2	916	c.547A>G	c.(547-549)Agc>Ggc	p.S183G	ZFP41_ENST00000520584.1_Missense_Mutation_p.S183G|ZFP41_ENST00000522452.1_Missense_Mutation_p.S183G	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	183					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-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)			CTTTGCCTACAGCTCCTGTCT	0.612000													15	136					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10531597	10531597	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:10531597G>A	ENST00000352831.6	+	1	267	c.157G>A	c.(157-159)Gag>Aag	p.E53K	PDE4A_ENST00000380702.2_Intron|PDE4A_ENST00000592685.1_Intron	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	53					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CGACAGCGCGGAGCGCGCCGA	0.751000													3	13					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82065435	82065435	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:82065435C>T	ENST00000395578.1	-	10	1320	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	PRKG2_ENST00000264399.1_Missense_Mutation_p.E402K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.E402K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	402					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.E402K(1)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACATATCCTTCAAGGTATTTT	0.413000													8	66					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107548652	107548652	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:107548652G>C	ENST00000374736.3	-	48	6722	c.6328C>G	c.(6328-6330)Ctt>Gtt	p.L2110V		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2110	ABC transporter 2.				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)	CTAGTGCAAAGAGCTTCACAT	0.403000													8	72					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86940688	86940688	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:86940688C>T	ENST00000441037.2	+	17	2423	c.2328C>T	c.(2326-2328)gtC>gtT	p.V776V	AGBL1_ENST00000421325.2_Silent_p.V776V|AGBL1_ENST00000389298.3_Silent_p.V507V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	776					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGTTCCTGGTCAGCAGTGACC	0.507000													15	73					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318993	31318993	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:31318993C>G	ENST00000269197.5	+	11	1625	c.1625C>G	c.(1624-1626)tCt>tGt	p.S542C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTCTGTGACTCTCTTATTCCT	0.403000													4	14					0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35672517	35672517	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:35672517G>A	ENST00000373664.3	-	13	1808	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	RBL1_ENST00000344359.3_Missense_Mutation_p.S581F	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	581	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTTGTTTGCAGAAACCTGGAG	0.398000													22	48					0	0	1	0	0
ZBTB25	7597	broad.mit.edu	37	14	64954555	64954555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:64954555G>A	ENST00000608382.1	-	3	585	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000394715.1_Nonsense_Mutation_p.Q132*|ZBTB25_ENST00000555424.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25							cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		GTTGAGATCTGAATGCCATAT	0.443000													25	69					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40363183	40363183	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:40363183G>A	ENST00000221347.6	-	32	14894	c.14887C>T	c.(14887-14889)Ctc>Ttc	p.L4963F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4963	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATCAAAGAGAAGCCGCAGC	0.652000													16	23					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12056237	12056237	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:12056237G>A	ENST00000235329.5	+	5	658	c.336G>A	c.(334-336)gtG>gtA	p.V112V	MFN2_ENST00000444836.1_Silent_p.V112V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	112					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGCACCGTGATCAATGCCA	0.527000													12	36					0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839326	24839326	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:24839326G>T	ENST00000413692.2	+	3	1055	c.911G>T	c.(910-912)cGa>cTa	p.R304L	NFATC4_ENST00000556279.1_Missense_Mutation_p.R273L|NFATC4_ENST00000554591.1_Missense_Mutation_p.R304L|NFATC4_ENST00000555453.1_Missense_Mutation_p.R229L|NFATC4_ENST00000555590.1_Missense_Mutation_p.R254L|NFATC4_ENST00000554050.1_Missense_Mutation_p.R241L|NFATC4_ENST00000554661.1_Missense_Mutation_p.R171L|NFATC4_ENST00000554966.1_Missense_Mutation_p.R254L|NFATC4_ENST00000539237.2_Missense_Mutation_p.R273L|NFATC4_ENST00000553708.1_Missense_Mutation_p.R241L|NFATC4_ENST00000422617.3_Missense_Mutation_p.R229L|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000250373.4_Missense_Mutation_p.R241L|NFATC4_ENST00000557451.1_Missense_Mutation_p.R171L|NFATC4_ENST00000553469.1_Missense_Mutation_p.R273L|NFATC4_ENST00000556169.1_Missense_Mutation_p.R229L|NFATC4_ENST00000424781.2_Missense_Mutation_p.R254L|NFATC4_ENST00000553879.1_Missense_Mutation_p.R171L|NFATC4_ENST00000554344.1_Missense_Mutation_p.R171L	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	241	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCCGGAGGCCGAGGGCCAGAG	0.711000													7	18					0.000157383	0.000161012	1	1	0
CYP8B1	1582	broad.mit.edu	37	3	42916738	42916738	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:42916738C>T	ENST00000316161.4	-	1	895	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.D191N|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	191					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TGCTCCTTGTCCTTCGTGTAG	0.527000													14	55					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542410	145542410	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:145542410G>C	ENST00000332324.4	-	5	693	c.420C>G	c.(418-420)gcC>gcG	p.A140A	DGAT1_ENST00000531896.1_Silent_p.A140A	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	140					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CAAAGACATTGGCCGCTGTGG	0.622000													6	6					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103540276	103540276	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:103540276C>G	ENST00000358392.2	-	4	866	c.549G>C	c.(547-549)aaG>aaC	p.K183N	COL11A1_ENST00000512756.1_Missense_Mutation_p.K183N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K183N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K183N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	183	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.K183N(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGTTTTCTTCTTACAATCAA	0.368000													12	57					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91708503	91708503	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:91708503C>G	ENST00000359028.2	+	32	7317	c.7092C>G	c.(7090-7092)ctC>ctG	p.L2364L	AKAP9_ENST00000356239.3_Silent_p.L2352L|AKAP9_ENST00000358100.2_Silent_p.L2364L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2364	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGAGCAGCTCAATGAAGTGA	0.348000			T	BRAF	papillary thyroid								8	38					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29834879	29834879	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:29834879C>T	ENST00000354373.2	+	1	308	c.99C>T	c.(97-99)ctC>ctT	p.L33L	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	33							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGGCTGCACTCTTCCAAGAAG	0.493000													8	107					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255545	25255545	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:25255545C>G	ENST00000328086.7	-	6	2345	c.1542G>C	c.(1540-1542)gaG>gaC	p.E514D		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	514					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAAACCGAGTCTCACGGAGGA	0.488000													13	124					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38645469	38645469	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:38645469C>G	ENST00000413689.1	-	12	1817	c.1624G>C	c.(1624-1626)Gat>Cat	p.D542H	SCN5A_ENST00000449557.2_Missense_Mutation_p.D542H|SCN5A_ENST00000333535.4_Missense_Mutation_p.D542H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D542H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D542H|SCN5A_ENST00000425664.1_Missense_Mutation_p.D542H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D542H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D542H|SCN5A_ENST00000423572.2_Missense_Mutation_p.D542H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D542H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	542					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGCAAAATCTGCTTCAGAA	0.607000													7	36					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101252722	101252722	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:101252722C>A	ENST00000388798.2	+	18	2563	c.2372C>A	c.(2371-2373)tCa>tAa	p.S791*	SPAG1_ENST00000251809.3_Nonsense_Mutation_p.S791*	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	791					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.S791L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGCAGCAGGTCACCAGAAGAC	0.488000													20	46					2.4624e-09	2.61331e-09	1	1	0
DIS3	22894	broad.mit.edu	37	13	73347945	73347945	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:73347945G>C	ENST00000377767.4	-	8	1216	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	DIS3_ENST00000377780.4_Silent_p.L342L|DIS3_ENST00000545453.1_Silent_p.L210L	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	372					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CAGGTGTAAAGAGATGTCTTC	0.363000										Multiple Myeloma(4;0.011)			36	42					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2214472	2214472	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2214472C>G	ENST00000398665.3	+	19	1836	c.1800C>G	c.(1798-1800)ctC>ctG	p.L600L	DOT1L_ENST00000608122.1_3'UTR|AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	600						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCTCAGCTCAAGGCTCGCT	0.642000													6	16					0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19190524	19190524	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:19190524C>G	ENST00000284881.4	-	2	202	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	C21orf91_ENST00000400559.3_Missense_Mutation_p.E38Q|C21orf91_ENST00000400558.3_Missense_Mutation_p.E38Q|C21orf91_ENST00000493464.1_5'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	38										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATATTTAGCTCAAAACAAATG	0.348000													12	57					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10846473	10846473	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:10846473C>T	ENST00000283027.5	+	4	284	c.265C>T	c.(265-267)Ctt>Ttt	p.L89F	NUBP1_ENST00000433392.2_Missense_Mutation_p.L89F|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	89					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCAGATTGCTCTTCTAGACAT	0.458000													36	139					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15811433	15811433	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:15811433G>C	ENST00000281172.5	-	11	1460	c.1024C>G	c.(1024-1026)Ctg>Gtg	p.L342V	EPS8_ENST00000543523.1_Missense_Mutation_p.L342V|EPS8_ENST00000542903.1_Missense_Mutation_p.L82V|EPS8_ENST00000540613.1_Missense_Mutation_p.L82V|EPS8_ENST00000543612.1_Missense_Mutation_p.L342V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	342					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCACTTACCAGAAGGTTAAAT	0.318000													35	87					0	0	1	0	0
TEFM	79736	broad.mit.edu	37	17	29231288	29231288	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:29231288G>A	ENST00000580840.1	-	2	327	c.291C>T	c.(289-291)atC>atT	p.I97I	TEFM_ENST00000581216.1_Silent_p.I97I			Q96QE5	TEFM_HUMAN	transcription elongation factor, mitochondrial	97					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										CTACGATATTGATGGACCTTC	0.383000													18	101					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93108669	93108669	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:93108669C>T	ENST00000359558.2	-	5	555	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	CALCR_ENST00000394441.1_Missense_Mutation_p.E68K|CALCR_ENST00000421592.1_Missense_Mutation_p.E68K|CALCR_ENST00000426151.1_Missense_Mutation_p.E68K|CALCR_ENST00000360249.4_Missense_Mutation_p.E68K	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	68					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCTTTACCTTCTCCTTGGTAT	0.358000													28	92					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636325	18636325	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:18636325G>C	ENST00000336349.5	-	3	1731	c.1496C>G	c.(1495-1497)tCa>tGa	p.S499*		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	499	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						AGCTGGAATTGAGCCACTTAT	0.582000													18	33					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102479617	102479617	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:102479617C>T	ENST00000552283.1	-	6	606	c.467G>A	c.(466-468)gGa>gAa	p.G156E	NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G156E			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	156					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TGTTTGCACTCCTTCCAAGTT	0.299000													4	34					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689439	33689439	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:33689439C>G	ENST00000321505.4	+	20	5469	c.5289C>G	c.(5287-5289)atC>atG	p.I1763M	RP4-541C22.5_ENST00000534431.1_RNA|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.I1769M					KIAA1549-like																		CAGGGTACATCGAGGCCTACC	0.642000													5	14					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006514	30006514	+	Missense_Mutation	SNP	C	C	G	rs140372011	by1000genomes	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30006514C>G	ENST00000279392.3	-	3	1041	c.211G>C	c.(211-213)Gac>Cac	p.D71H	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.D71H	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	71					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCAGTTTGTCTTCCCTGGAA	0.592000													17	84					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	78005795	78005795	+	Missense_Mutation	SNP	T	T	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:78005795T>A	ENST00000302536.2	+	8	1279	c.1126T>A	c.(1126-1128)Tta>Ata	p.L376I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	376							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CATTGGCAAGTTAATTCTGGA	0.532000											OREG0023950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	218					0	0	1	0	0
WDFY1	57590	broad.mit.edu	37	2	224743398	224743398	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:224743398G>A	ENST00000233055.4	-	12	1325	c.1223C>T	c.(1222-1224)tCt>tTt	p.S408F	WDFY1_ENST00000462702.1_5'UTR	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	408						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCAGTGCGGAGAAAACCCAGT	0.547000													12	12					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798057	53798057	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:53798057G>C	ENST00000575734.1	-	4	1183	c.375C>G	c.(373-375)ctC>ctG	p.L125L	TMEM100_ENST00000424486.2_Silent_p.L125L	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	125						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GATTTGCCACGAGAGCTGTTT	0.483000													8	106					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034477	52034477	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:52034477G>T	ENST00000346477.3	-	2	432	c.364C>A	c.(364-366)Cgg>Agg	p.R122R	SIGLEC6_ENST00000359982.4_Silent_p.R122R|SIGLEC6_ENST00000343300.4_Silent_p.R122R|SIGLEC6_ENST00000425629.3_Silent_p.R122R|SIGLEC6_ENST00000391797.3_Silent_p.R122R|SIGLEC6_ENST00000436458.1_Silent_p.R86R	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	122	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GACTTCAACCGAAAGAAGTAT	0.542000													25	67					2.21704e-12	2.39224e-12	1	1	0
FLAD1	80308	broad.mit.edu	37	1	154960668	154960668	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:154960668G>C	ENST00000368433.1	+	2	803	c.460G>C	c.(460-462)Gat>Cat	p.D154H	FLAD1_ENST00000292180.3_Missense_Mutation_p.D154H|FLAD1_ENST00000368431.3_Missense_Mutation_p.D55H|FLAD1_ENST00000368432.1_Missense_Mutation_p.D57H|FLAD1_ENST00000315144.10_Missense_Mutation_p.D57H|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000405236.2_Missense_Mutation_p.D55H			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	154	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGTTGTACCTGATGAGGTAGC	0.572000													33	92					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575979	49575979	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:49575979C>T	ENST00000244051.1	+	1	617	c.600C>T	c.(598-600)ctC>ctT	p.L200L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	200					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L200L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GTCGGCCCCTCGTGTCTGCCA	0.602000													20	53					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563952	46563952	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:46563952C>T	ENST00000458649.2	-	7	2033	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E539K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E449K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E539K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E449K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E539K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E539K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	539					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTCTCAGATTCAATGTTATTG	0.572000													7	48					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205039183	205039183	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:205039183G>A	ENST00000331830.4	+	18	2709	c.2425G>A	c.(2425-2427)Gag>Aag	p.E809K		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	809					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTACTCAGCTGAGGAAGGTGG	0.657000													8	25					0	0	1	0	0
RAC3	5881	broad.mit.edu	37	17	79990275	79990275	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:79990275G>C	ENST00000306897.4	+	2	186	c.48G>C	c.(46-48)aaG>aaC	p.K16N		NM_005052.2	NP_005043.1	P60763	RAC3_HUMAN	ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)	16					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCGTGGGGAAGACATGCTTGC	0.697000													14	54					0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81397481	81397481	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:81397481C>G	ENST00000568107.2	+	7	1331	c.1169C>G	c.(1168-1170)tCc>tGc	p.S390C		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAGCTGATTTCCATGGAGTGT	0.413000													44	96					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12318110	12318110	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:12318110G>C	ENST00000358136.3	+	10	1190	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	VPS13D_ENST00000356315.4_Missense_Mutation_p.D354H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	354					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)		ATCTTACACTGACAAATATTT	0.418000													8	63					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30731555	30731555	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30731555C>G	ENST00000262518.4	+	19	3275	c.2890C>G	c.(2890-2892)Ctg>Gtg	p.L964V	SRCAP_ENST00000395059.2_Missense_Mutation_p.L964V|SRCAP_ENST00000344771.4_Missense_Mutation_p.L964V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	964					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)			AGACACATTTCTGCCCCGGCA	0.552000													78	186					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228119399	228119399	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:228119399G>C	ENST00000396578.3	+	15	1018	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	286	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATATGGATCTGAAAAGGGTGC	0.378000													5	45					0	0	1	0	0
NUDT16	131870	broad.mit.edu	37	3	131102278	131102278	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:131102278G>A	ENST00000537561.1	+	4	547	c.472G>A	c.(472-474)Gag>Aag	p.E158K	NUDT16_ENST00000521288.1_3'UTR|NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_3'UTR	NM_001171905.1	NP_001165376.1	Q96DE0	NUD16_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16	0	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						TATTGGATCTGAGAGATGATA	0.468000													5	6					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241588	206241588	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:206241588C>T	ENST00000331555.5	-	4	839	c.201G>A	c.(199-201)gaG>gaA	p.E67E		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	67						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCTCCTTCATCTCTTTGACAG	0.532000													9	112					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65048486	65048486	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:65048486G>C	ENST00000265465.3	+	8	1299	c.768G>C	c.(766-768)caG>caC	p.Q256H	POLA2_ENST00000541089.1_Missense_Mutation_p.Q48H	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	256					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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TGCTGGGCCAGATTGGCTGTG	0.493000													32	76					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794833	214794833	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:214794833C>G	ENST00000331683.5	+	12	1459	c.1364C>G	c.(1363-1365)tCa>tGa	p.S455*	SPAG16_ENST00000374309.3_Nonsense_Mutation_p.S361*	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	455					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCTTCCTCCTCACTGGATAAA	0.428000													14	61					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053761	95053761	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:95053761G>A	ENST00000329597.7	+	3	272	c.62G>A	c.(61-63)cGc>cAc	p.R21H	SERPINA5_ENST00000554276.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000554866.1_Missense_Mutation_p.R21H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R21H	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	21					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TCCCTTCACCGCCACCACCCC	0.587000													7	39					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94703867	94703867	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:94703867C>T	ENST00000397809.5	-	16	2377	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	CCDC41_ENST00000339839.5_Missense_Mutation_p.E610K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	602										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						GTATAGTCTTCAAAAGGAACA	0.303000													23	49					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118644397	118644397	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:118644397C>G	ENST00000336338.5	-	5	665	c.600G>C	c.(598-600)cgG>cgC	p.R200R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	200						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTCCTCTCCGCTTTAACT	0.512000													37	89					0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148407942	148407942	+	Silent	SNP	T	T	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:148407942T>C	ENST00000515425.1	-	11	1454	c.1353A>G	c.(1351-1353)gaA>gaG	p.E451E	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000394358.2_Silent_p.E336E|SH3TC2_ENST00000512049.1_Silent_p.E444E	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	451							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAGCAGTTCCGGGTCAT	0.567000													9	69					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33329015	33329015	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:33329015G>A	ENST00000378526.4	+	18	2699	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K	LIG3_ENST00000262327.5_Missense_Mutation_p.E856K	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	856					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TAGCAGTGAAGAGAATAAGGG	0.572000								Other BER factors					9	32					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116151371	116151371	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:116151371G>C	ENST00000409155.3	-	11	1013	c.817C>G	c.(817-819)Ctc>Gtc	p.L273V	ALAD_ENST00000277315.5_Missense_Mutation_p.L256V	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	273					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TACACGGCGAGAGGGAGGTCA	0.612000													11	13					0	0	1	0	0
TMEM52B	120939	broad.mit.edu	37	12	10332182	10332182	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:10332182C>G	ENST00000381923.2	+	2	413	c.9C>G	c.(7-9)gtC>gtG	p.V3V	TMEM52B_ENST00000298530.3_5'UTR|TMEM52B_ENST00000536952.1_Silent_p.V3V					transmembrane protein 52B																		CGATGGGAGTCCGAGTTCATG	0.478000													35	109					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391340	71391340	+	Silent	SNP	C	C	G	rs140373513	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:71391340C>G	ENST00000392650.3	-	25	3546	c.3546G>C	c.(3544-3546)ggG>ggC	p.G1182G	SDK2_ENST00000388726.3_Silent_p.G1182G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1182	Fibronectin type-III 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGGGCCCGCTCCCGATGGCGT	0.667000													4	21					0	0	1	0	0
SNRPD3	6634	broad.mit.edu	37	22	24963979	24963979	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:24963979G>A	ENST00000215829.3	+	3	741	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SNRPD3_ENST00000402849.1_Missense_Mutation_p.D52N	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	52					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CACATACAGAGATGGCCGAGT	0.512000													14	47					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69424939	69424939	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:69424939G>C	ENST00000333026.3	+	7	1097	c.997G>C	c.(997-999)Gag>Cag	p.E333Q		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	333					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TGAGACCCAAGAGCTGACAAT	0.473000													11	11					0	0	1	0	0
CCDC102A	92922	broad.mit.edu	37	16	57550240	57550240	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:57550240C>T	ENST00000258214.2	-	7	1630	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	462										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTCTTGAGCTCCTCCACCCGC	0.662000													6	25					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650708	14650708	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:14650708C>G	ENST00000544627.1	+	15	3858	c.3538C>G	c.(3538-3540)Cag>Gag	p.Q1180E	ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1171E|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1172E|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1172E			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1172	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCACGCGTTCAGAGTCAAAA	0.532000													14	43					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53895841	53895841	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:53895841C>T	ENST00000266987.2	+	2	579	c.96C>T	c.(94-96)atC>atT	p.I32I	TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000456234.2_Silent_p.I11I|TARBP2_ENST00000549028.1_3'UTR|TARBP2_ENST00000394357.2_Silent_p.I11I	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	32	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AGACCCCGATCAGCCTTCTGC	0.592000													14	37					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56436925	56436925	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:56436925G>C	ENST00000290649.5	-	7	1156	c.946C>G	c.(946-948)Cta>Gta	p.L316V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	316					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ACCACACGTAGATAGTTCTTG	0.448000													45	93					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26094838	26094838	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:26094838C>T	ENST00000313735.6	-	18	2293	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	687					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGTTTGCCTCGGACATCAAA	0.567000													12	68					0	0	1	0	0
NDUFA6-AS1	100132273	broad.mit.edu	37	22	42486983	42486983	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:42486983C>T	ENST00000416037.2	+	0	49				NDUFA6-AS1_ENST00000608974.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA	NR_034118.1																						ACTACACCATCTGTCGCTCGC	0.672000											OREG0026602	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	8					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649755	146649755	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:146649755C>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							CGGCCCGCCTCGCGGCTGCCT	0.721000													11	35					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17727832	17727832	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:17727832C>G	ENST00000434762.2	+	0	2034							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCACCTTCATCAATGACTTTG	0.542000													17	25					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17313762	17313762	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:17313762G>C	ENST00000452699.1	-	26	3036	c.2847C>G	c.(2845-2847)atC>atG	p.I949M	ATP13A2_ENST00000341676.5_Missense_Mutation_p.I910M|ATP13A2_ENST00000326735.8_Missense_Mutation_p.I954M|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	954					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGTTGGTGTTGATCTGCCACA	0.632000													6	17					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1204827	1204827	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:1204827G>T	ENST00000308624.5	+	9	759	c.630G>T	c.(628-630)ccG>ccT	p.P210P	SNTG2_ENST00000407292.1_Silent_p.P83P|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	210					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTAAGGACCCGAGGTATGAGA	0.562000													9	98					2.17888e-05	2.25511e-05	1	1	0
ASNA1	439	broad.mit.edu	37	19	12858242	12858242	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:12858242G>A	ENST00000591090.1	+	7	853	c.751G>A	c.(751-753)Gag>Aag	p.E251K	ASNA1_ENST00000357332.3_Missense_Mutation_p.E251K			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	251					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	ATGCATTGCTGAGTTCCTGTC	0.562000													16	43					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21837929	21837929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:21837929C>A	ENST00000216297.2	-	5	948	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	204					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACTATTTCCATGACTCTT	0.403000													28	50					9.78306e-22	1.07523e-21	1	1	0
PIBF1	10464	broad.mit.edu	37	13	73357668	73357668	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:73357668G>A	ENST00000326291.6	+	2	399	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	21						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TCTGGAATCTGAAGATATTAG	0.343000													15	95					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719915	50719915	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:50719915G>C	ENST00000449103.1	-	22	3676	c.3536C>G	c.(3535-3537)tCt>tGt	p.S1179C	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S1179C			O15031	PLXB2_HUMAN	plexin B2	1179					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACTCGCGAGAGCCGAACTT	0.687000													12	23					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865058	47865058	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:47865058C>G	ENST00000396105.1	-	14	4749	c.4503G>C	c.(4501-4503)aaG>aaC	p.K1501N	ZNFX1_ENST00000371752.1_Missense_Mutation_p.K1501N|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1501							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCCACATTTCTTCTTGCACT	0.592000													8	68					0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119966551	119966551	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:119966551G>A	ENST00000327554.2	+	12	1826	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	454										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GCAGACCACTGGTAAATATCC	0.388000													17	51					0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30313502	30313502	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:30313502G>C	ENST00000262643.3	+	11	1381	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	CCNE1_ENST00000444983.2_Missense_Mutation_p.D353H|CCNE1_ENST00000357943.5_Missense_Mutation_p.D325H	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	368					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			AGACAGCTTGGATTTGCTGGT	0.512000			A		serous ovarian								22	124					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115981187	115981187	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:115981187G>A	ENST00000251864.2	+	20	2995	c.2842G>A	c.(2842-2844)Gaa>Aaa	p.E948K	TDRD1_ENST00000369282.1_Missense_Mutation_p.E948K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E834K|TDRD1_ENST00000422662.1_Missense_Mutation_p.E552K|TDRD1_ENST00000369280.1_Missense_Mutation_p.E948K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	948					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAATGTATTAGAAATCATAAG	0.358000													10	61					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241780	155241780	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:155241780C>A	ENST00000357232.4	-	14	3405	c.3406G>T	c.(3406-3408)Gat>Tat	p.D1136Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAGCCTGATCAGATGCTGTT	0.458000													19	112					3.99206e-14	4.33388e-14	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44670172	44670172	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:44670172C>T	ENST00000243964.3	+	8	1157	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	SLC12A5_ENST00000454036.2_Silent_p.L376L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	376					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGGCCTCATCAAAGGTC	0.557000													13	53					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3632493	3632493	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:3632493C>A	ENST00000294008.3	-	15	5995	c.5355G>T	c.(5353-5355)ctG>ctT	p.L1785L	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1785	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						CGTTCTGCCTCAGCTCTGCCT	0.642000								Direct reversal of damage					14	95					0.000151284	0.000155108	1	1	0
ITGB4	3691	broad.mit.edu	37	17	73720834	73720834	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:73720834G>C	ENST00000200181.3	+	2	238	c.51G>C	c.(49-51)ttG>ttC	p.L17F	ITGB4_ENST00000449880.2_Missense_Mutation_p.L17F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L17F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.L17F|ITGB4_ENST00000579662.1_Missense_Mutation_p.L17F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	17					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCAGCCTTGATCAGCGTCA	0.642000													4	55					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45268966	45268966	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:45268966C>G	ENST00000372201.4	+	8	1214	c.975C>G	c.(973-975)atC>atG	p.I325M	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	325						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GACTCCCTATCAGCAGCTGCG	0.572000													9	33					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452456	43452456	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:43452456C>T	ENST00000282388.3	-	2	780	c.487G>A	c.(487-489)Gag>Aag	p.E163K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	163					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CCGCTCTCCTCGAAGGGCCGG	0.647000													15	32					0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904438	45904438	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:45904438G>A	ENST00000290208.7	-	3	837	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	MRPL10_ENST00000351111.2_Missense_Mutation_p.H119Y|MRPL10_ENST00000414011.1_Missense_Mutation_p.H129Y			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	119					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						AGGATCTTGTGTTTCCGCAGC	0.567000													11	80					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834079	125834079	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:125834079C>A	ENST00000299308.3	+	2	142	c.134C>A	c.(133-135)tCc>tAc	p.S45Y	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	45						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGCACATCTCCAATGCAGAG	0.527000													35	131					1.03484e-13	1.12173e-13	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85411562	85411562	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:85411562G>A	ENST00000359152.5	-	9	4886	c.4887C>T	c.(4885-4887)gtC>gtT	p.V1629V	SYTL2_ENST00000527523.1_Silent_p.V751V|SYTL2_ENST00000316356.4_Silent_p.V784V|SYTL2_ENST00000528231.1_Silent_p.V783V|SYTL2_ENST00000354566.3_Silent_p.V1121V|SYTL2_ENST00000529581.1_Silent_p.V225V|SYTL2_ENST00000525423.1_Silent_p.V1105V|SYTL2_ENST00000524452.1_Silent_p.V759V|SYTL2_ENST00000389958.3_Silent_p.V214V|SYTL2_ENST00000533892.1_Silent_p.V185V|SYTL2_ENST00000389960.4_Silent_p.V759V|SYTL2_ENST00000525702.1_Silent_p.V225V	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	783					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		ACATACCAGGGACTGGCTCTG	0.433000													10	62					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60591194	60591194	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:60591194G>A	ENST00000406854.1	+	9	2859	c.2305G>A	c.(2305-2307)Gtt>Att	p.V769I	PCNXL4_ENST00000404681.2_Missense_Mutation_p.V769I|PCNXL4_ENST00000317623.4_Missense_Mutation_p.V535I|PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000406949.1_Missense_Mutation_p.V535I					pecanex-like 4 (Drosophila)																		GTGGATACTTGTTCAATACTG	0.378000													9	76					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215818726	215818726	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:215818726C>G	ENST00000272895.7	-	44	6718	c.6499G>C	c.(6499-6501)Gac>Cac	p.D2167H	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1849H|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2167					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTAAGAAGTCTAGGACCGAC	0.398000													12	85					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60472431	60472431	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:60472431C>G	ENST00000450662.2	+	8	597	c.526C>G	c.(526-528)Cca>Gca	p.P176A	EFCAB3_ENST00000305286.3_Missense_Mutation_p.P124A	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	124							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			CTCCATAGTTCCAGAAAAGGA	0.363000													26	93					0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17172127	17172127	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:17172127C>T	ENST00000285681.2	+	6	976	c.607C>T	c.(607-609)Cca>Tca	p.P203S	USP25_ENST00000285679.6_Missense_Mutation_p.P203S|USP25_ENST00000547201.1_3'UTR|USP25_ENST00000400183.2_Missense_Mutation_p.P203S|USP25_ENST00000351097.5_Missense_Mutation_p.P203S	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	203					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTACAAGCCTCCATCAAATGC	0.289000													30	91					0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260370	78260370	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:78260370G>C	ENST00000264914.4	-	3	1095	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	ARSB_ENST00000565165.1_Missense_Mutation_p.L187V|ARSB_ENST00000396151.3_Missense_Mutation_p.L187V	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	187					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTGACATTCAGAGCGTCAATT	0.373000													9	29					0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31073241	31073241	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:31073241G>C	ENST00000538906.1	-	3	1792	c.1008C>G	c.(1006-1008)ttC>ttG	p.F336L	ZNF668_ENST00000394983.2_Missense_Mutation_p.F336L|ZNF668_ENST00000417110.2_Missense_Mutation_p.L143F|ZNF668_ENST00000300849.4_Missense_Mutation_p.F336L|ZNF668_ENST00000535577.1_Missense_Mutation_p.F336L|ZNF668_ENST00000539836.3_Missense_Mutation_p.F359L|ZNF668_ENST00000426488.2_Missense_Mutation_p.F359L	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCAGGCACTTGAACGGCCGGT	0.662000													24	62					0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128610360	128610360	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:128610360C>G	ENST00000393245.1	-	20	2915	c.2542G>C	c.(2542-2544)Gac>Cac	p.D848H	TNPO3_ENST00000471166.1_Missense_Mutation_p.D848H|TNPO3_ENST00000482320.1_Missense_Mutation_p.D748H|TNPO3_ENST00000265388.5_Missense_Mutation_p.D814H|TNPO3_ENST00000471234.1_Missense_Mutation_p.D750H	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	814					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AATTCAAAGTCTTCTTCATGC	0.453000													18	90					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82474693	82474693	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:82474693C>T	ENST00000333891.9	-	13	14277	c.13940G>A	c.(13939-13941)gGa>gAa	p.G4647E	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000423517.2_Missense_Mutation_p.G4647E	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACATGAGATCCTTTTTCAAC	0.532000													5	13					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22562626	22562626	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:22562626G>A	ENST00000419308.2	-	2	1438	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	FOXA2_ENST00000377115.4_Silent_p.P412P	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	418	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					AACCGTAGCCGGGGTAGTGCA	0.627000													10	59					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48777246	48777246	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:48777246G>A	ENST00000314191.2	-	42	5495	c.5439C>T	c.(5437-5439)ttC>ttT	p.F1813F	PRKDC_ENST00000338368.3_Silent_p.F1813F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1814					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACTGGCGTGTGAAACTTAGGC	0.483000								Non-homologous end-joining					4	20					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42783527	42783527	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:42783527G>A	ENST00000261491.5	+	23	2797	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	DGKH_ENST00000536612.1_Missense_Mutation_p.E790K|DGKH_ENST00000540693.1_Missense_Mutation_p.E926K|DGKH_ENST00000379274.2_Missense_Mutation_p.E790K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Missense_Mutation_p.E681K|DGKH_ENST00000337343.4_Missense_Mutation_p.E926K	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGTGGATGGTGAAGCGTGGGT	0.398000													8	58					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114483780	114483780	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:114483780C>A	ENST00000369558.1	+	2	1007	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	HIPK1_ENST00000369555.2_Missense_Mutation_p.Q259K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q259K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q259K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q259K|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q259K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	259	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTGCTTTCAGCATAAGAA	0.403000													21	65					2.21704e-12	2.39224e-12	1	1	0
GAL3ST1	9514	broad.mit.edu	37	22	30951443	30951443	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:30951443C>T	ENST00000402321.1	-	3	1086	c.769G>A	c.(769-771)Gag>Aag	p.E257K	GAL3ST1_ENST00000338911.5_Missense_Mutation_p.E257K|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.E257K|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.E257K|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.E257K|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.E257K|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.E257K			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	257					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ACCAGCGACTCGTCGAAGTAC	0.642000													16	90					0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231700490	231700490	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:231700490G>A	ENST00000366639.4	+	6	870	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TSNAX-DISC1_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	238					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				TGGACCTTACGAGGTTTCTAA	0.423000													25	82					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912853	111912853	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:111912853G>A	ENST00000368761.5	-	2	915	c.437C>T	c.(436-438)tCa>tTa	p.S146L	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.S155L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.S146L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	155					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		AGAAGCCGCTGAAAGCTGAGA	0.512000													7	60					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18300767	18300767	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:18300767C>T	ENST00000441493.2	-	26	5012	c.4660G>A	c.(4660-4662)Gag>Aag	p.E1554K		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1554						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)		CGAGGCTTCTCGGGGCGCGGC	0.647000													5	18					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732201	30732201	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30732201C>G	ENST00000262518.4	+	20	3540	c.3155C>G	c.(3154-3156)tCa>tGa	p.S1052*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.S1052*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.S1052*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1052	Pro-rich.				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)			CTGATGGTTTCAGCCTCACCT	0.657000													18	59					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48932855	48932855	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:48932855C>T	ENST00000356463.3	-	11	1354	c.916G>A	c.(916-918)Gag>Aag	p.E306K	WDR45_ENST00000322995.8_Missense_Mutation_p.E316K|WDR45_ENST00000485908.1_Missense_Mutation_p.E270K|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000376372.3_Missense_Mutation_p.E305K|WDR45_ENST00000396681.4_Missense_Mutation_p.E291K|WDR45_ENST00000553851.1_Intron|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.E306K	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	305					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CAAGCTGACTCAGCAGGCACA	0.597000													11	10					0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230367	56230367	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:56230367C>G	ENST00000279791.1	-	1	510	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGATTGATTTCAAAGTTTCCA	0.413000													16	40					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683118	113683118	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:113683118C>T	ENST00000003302.4	-	16	1920	c.1852G>A	c.(1852-1854)Gac>Aac	p.D618N	USP28_ENST00000260188.5_Missense_Mutation_p.D618N|USP28_ENST00000545540.1_Missense_Mutation_p.D493N|USP28_ENST00000544967.1_Missense_Mutation_p.D326N	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	618					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGAGATGTCATTGTACTTG	0.423000													9	78					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248789575	248789575	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:248789575G>A	ENST00000330803.2	-	1	916	c.855C>T	c.(853-855)ctC>ctT	p.L285L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGTAGATGAGAGGATTAA	0.478000													23	71					0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110756	155110756	+	Nonstop_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155110756G>C	ENST00000368404.4	+	6	727	c.665G>C	c.(664-666)tGa>tCa	p.*222S	SLC50A1_ENST00000368401.5_Nonstop_Mutation_p.*167S|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Nonstop_Mutation_p.*168S|SLC50A1_ENST00000484157.1_Nonstop_Mutation_p.*157S	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	0					positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						CTGCAAACCTGAGGCTGCTCA	0.552000													11	29					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329025	23329025	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:23329025G>C	ENST00000597761.2	+	4	1378	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D		NM_001277403.1	NP_001264332.1			zinc finger protein 730									p.E393D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATACTGTAGAGAAATTTTACA	0.348000													5	43					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166243198	166243198	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:166243198G>C	ENST00000226725.6	+	15	2027	c.1768G>C	c.(1768-1770)Gat>Cat	p.D590H	KLHL2_ENST00000514860.1_Missense_Mutation_p.D594H|KLHL2_ENST00000538127.1_Missense_Mutation_p.D502H|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000506761.1_Missense_Mutation_p.D424H|KLHL2_ENST00000421009.2_Missense_Mutation_p.D493H	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	590					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		CACAGTTATTGATAAACCATT	0.368000													13	73					0	0	1	0	0
SDF2	6388	broad.mit.edu	37	17	26976058	26976058	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:26976058G>A	ENST00000247020.4	-	3	883	c.585C>T	c.(583-585)ttC>ttT	p.F195F	SDF2_ENST00000592250.1_5'UTR	NM_006923.3	NP_008854.2	Q99470	SDF2_HUMAN	stromal cell-derived factor 2	195					protein glycosylation	extracellular space|membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Lung NSC(42;0.00431)					TGGGCTTCATGAAGATGCCTT	0.502000													31	102					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95453694	95453694	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:95453694C>T	ENST00000333003.5	-	4	682	c.352G>A	c.(352-354)Gac>Aac	p.D118N	NR2C1_ENST00000330677.7_Missense_Mutation_p.D118N|NR2C1_ENST00000393101.3_Missense_Mutation_p.D118N|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	118	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGCTTTGTCTCCACATACT	0.308000													10	20					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118343252	118343252	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118343252G>A	ENST00000534358.1	+	3	1401	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	KMT2A_ENST00000389506.5_Missense_Mutation_p.E460K|KMT2A_ENST00000354520.4_Missense_Mutation_p.E460K	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.S462fs*19(1)									TGGATCTTCTGAAAAATCAAG	0.468000													48	118					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139733	68139733	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:68139733C>G	ENST00000262215.3	-	26	4081	c.3692G>C	c.(3691-3693)aGa>aCa	p.R1231T	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.R69T|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R685T	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1231					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTTCTGGAATCTGAAGTTAGC	0.358000													10	50					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98896844	98896844	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:98896844G>C	ENST00000376581.5	+	3	307	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACATCTAATTGAGAAGTTTGG	0.493000													28	52					0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56847452	56847452	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:56847452C>T	ENST00000257979.4	-	2	476	c.448G>A	c.(448-450)Gac>Aac	p.D150N	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	150					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						CGCCTCTCGTCGTATGTGGCA	0.602000													9	25					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132890928	132890928	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:132890928G>A	ENST00000372406.1	+	19	2101	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	GPR107_ENST00000372410.3_Missense_Mutation_p.E503K|GPR107_ENST00000347136.6_Missense_Mutation_p.E484K	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	532						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GCTCCTGGATGAAACGGCCAC	0.428000													77	98					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50859929	50859929	+	Splice_Site	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:50859929G>C	ENST00000395562.2	+	12	1734		c.e12-1		CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000337653.2_Splice_Site|CHAT_ENST00000455728.2_Splice_Site	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase						neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTCTTCCTCAGAATAGTAAAG	0.418000													5	18					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305279	114305279	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:114305279G>C	ENST00000309235.5	+	6	2222	c.2064G>C	c.(2062-2064)gaG>gaC	p.E688D	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	688					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATACAGGAGAGAAACCCTATG	0.383000													26	33					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820903	62820903	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:62820903C>T	ENST00000582986.1	-	0	188					NR_024386.1																						GTGTTGGCATCTCCGTCTTCA	0.547000													5	45					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	56032736	56032736	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:56032736C>G	ENST00000389286.4	-	2	288	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	PRTG_ENST00000561292.1_Missense_Mutation_p.E81Q	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	81	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGTTTATTTTCAGACATTTTT	0.438000													24	178					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227441767	227441767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:227441767C>A	ENST00000366769.3	-	2	1559	c.268G>T	c.(268-270)Gag>Tag	p.E90*	CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.E90*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.E90*|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.E90*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.E90*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.E90*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.E90*	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	90	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTCTTACCTCCCCAAAAGCT	0.328000													14	88					4.14922e-12	4.46694e-12	1	1	0
LMBR1	64327	broad.mit.edu	37	7	156549156	156549156	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:156549156G>C	ENST00000353442.5	-	9	924	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V	LMBR1_ENST00000359422.4_Missense_Mutation_p.L78V|LMBR1_ENST00000540390.1_Missense_Mutation_p.L209V|LMBR1_ENST00000354505.4_Missense_Mutation_p.L230V	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		AGGTCTTCAAGAATCTAAATT	0.303000													13	53					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91035852	91035852	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:91035852C>G	ENST00000268182.5	+	35	4661	c.4537C>G	c.(4537-4539)Ctg>Gtg	p.L1513V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L941V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1513	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATACGCTGCTCTGAACTCTAA	0.433000													5	51					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109797143	109797143	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:109797143G>C	ENST00000297459.3	-	2	363	c.185C>G	c.(184-186)tCt>tGt	p.S62C	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	62					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TGCTGGAGAAGAACTAAGTTT	0.522000													7	89					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636253	73636253	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:73636253G>T	ENST00000377687.4	+	2	1052	c.516G>T	c.(514-516)caG>caT	p.Q172H	KLF5_ENST00000539231.1_Missense_Mutation_p.Q81H|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	172					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCAGCCACCAGAGTGAAACGA	0.552000													42	40					8.16277e-20	8.9576e-20	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141299423	141299423	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:141299423C>G	ENST00000389484.3	-	44	8283	c.7312G>C	c.(7312-7314)Gat>Cat	p.D2438H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2438					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTTTGTATCTCCTCCTGTG	0.418000										TSP Lung(27;0.18)			25	82					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30977494	30977494	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30977494C>T	ENST00000262519.8	+	8	2978	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCTCCTCAGTCTCGGGAGAGG	0.677000													9	23					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47587656	47587656	+	Splice_Site	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:47587656G>C	ENST00000371917.4	+	10	1190		c.e10-1			NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTTTGCCAGATCCCATGAG	0.433000													25	43					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295424	133295424	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:133295424G>C	ENST00000231512.3	-	2	629	c.427C>G	c.(427-429)Cta>Gta	p.L143V	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	143						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCATTGTCTAGAGTGTCTTTG	0.488000													24	61					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310941	171310941	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:171310941G>C	ENST00000367749.3	+	10	1970	c.1640G>C	c.(1639-1641)aGa>aCa	p.R547T		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	547					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTACAGGACAGAATGTCCCCT	0.408000													13	50					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765938	61765938	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:61765938G>A	ENST00000423902.2	+	31	7133	c.6654G>A	c.(6652-6654)ctG>ctA	p.L2218L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2218	Glu-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAATGAACTGAAAGGTGTTG	0.498000													11	27					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115037882	115037882	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:115037882G>C	ENST00000360383.3	+	18	2025	c.1827G>C	c.(1825-1827)atG>atC	p.M609I	CDC16_ENST00000375310.1_Missense_Mutation_p.M515I|CDC16_ENST00000252458.6_Missense_Mutation_p.M464I|CDC16_ENST00000356221.3_Missense_Mutation_p.M609I|CDC16_ENST00000375312.3_Missense_Mutation_p.M464I|CDC16_ENST00000375308.1_Missense_Mutation_p.M515I|CDC16_ENST00000252457.5_Missense_Mutation_p.M608I|CDC16_ENST00000461716.1_3'UTR	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	609					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|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|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AAAGTGACATGATGTTAGAGA	0.458000													20	34					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119548436	119548436	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:119548436G>A	ENST00000264025.3	-	3	1092	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.R188W|PVRL1_ENST00000340882.2_Missense_Mutation_p.R188W	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	188	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTTTTAACCGAGTTTCCCAG	0.607000													7	40					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21711191	21711191	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:21711191G>A	ENST00000261195.2	-	11	1619	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	455					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGCTGAGGATGGGGTCGGTGG	0.438000													7	24					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785574	111785574	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:111785574G>A	ENST00000261726.6	+	22	4060	c.3906G>A	c.(3904-3906)caG>caA	p.Q1302Q		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1302						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCAGGAACAGATGGAGGAGG	0.617000													16	31					0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216841	26216841	+	Missense_Mutation	SNP	G	G	C	rs146860350		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:26216841G>C	ENST00000244601.3	-	1	31	c.31C>G	c.(31-33)Ccg>Gcg	p.P11A		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CCCTTCTTCGGAGCAGGAGCT	0.493000													49	71					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793987	30793987	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30793987G>A	ENST00000262525.4	-	3	1869	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGGGTCCCCGAGCCCCAGCA	0.672000													5	11					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64029985	64029985	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64029985C>T	ENST00000540288.1	+	18	2248	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	PLCB3_ENST00000325234.5_Silent_p.F648F|PLCB3_ENST00000279230.6_Silent_p.F715F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	715	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TCGACCCCTTCACTGAGGTCA	0.647000													15	46					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107712809	107712809	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:107712809C>T	ENST00000280758.5	+	1	620	c.92C>T	c.(91-93)tCc>tTc	p.S31F	BTBD11_ENST00000420571.2_Missense_Mutation_p.S31F|BTBD11_ENST00000490090.2_Missense_Mutation_p.S31F	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	31						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCGGTGCGCTCCTCCAACTTG	0.652000													4	23					0	0	1	0	0
ZNF572	137209	broad.mit.edu	37	8	125989773	125989773	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:125989773C>T	ENST00000319286.5	+	3	1417	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GGAAAACTTTCAGTCAGAGTT	0.428000										HNSCC(60;0.17)			56	79					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129098131	129098131	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:129098131G>A	ENST00000249344.2	+	10	1154	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	STRIP2_ENST00000435494.2_Missense_Mutation_p.E372K	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GCCCGCCACAGAGGAGGAAGA	0.567000													5	20					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394986	109394986	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:109394986C>G	ENST00000370001.3	-	2	569	c.301G>C	c.(301-303)Gaa>Caa	p.E101Q	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E101Q|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E101Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	101										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GCGTCTCCTTCATTTGCTGGA	0.408000													22	74					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66246407	66246407	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:66246407G>C	ENST00000359904.3	+	2	1211	c.79G>C	c.(79-81)Gag>Cag	p.E27Q	AMZ2_ENST00000577985.1_Missense_Mutation_p.E27Q|AMZ2_ENST00000577866.1_Missense_Mutation_p.E27Q|AMZ2_ENST00000392720.2_Missense_Mutation_p.E27Q|AMZ2_ENST00000580753.1_Missense_Mutation_p.E27Q|AMZ2_ENST00000577273.1_Missense_Mutation_p.E27Q|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.E27Q	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	27							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCACAGTATGAGAAATTAAA	0.403000													27	100					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70591784	70591784	+	Missense_Mutation	SNP	C	C	T	rs149130588		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:70591784C>T	ENST00000260126.4	-	8	2559	c.1853G>A	c.(1852-1854)cGa>cAa	p.R618Q	SLCO5A1_ENST00000524945.1_Missense_Mutation_p.R618Q|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R563Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1							integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGCTGACTTCGCTGTCCCAC	0.453000													33	83					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42793046	42793046	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:42793046C>T	ENST00000572681.2	+	8	3733	c.3665C>T	c.(3664-3666)tCt>tTt	p.S1222F	CIC_ENST00000160740.3_Missense_Mutation_p.S313F|CIC_ENST00000575354.2_Missense_Mutation_p.S313F			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	313	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGTGTCCTCTGAGCTCCTG	0.562000			"""Mis, F, S"""		oligodendroglioma								12	33					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535549	27535549	+	RNA	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:27535549G>A	ENST00000574842.1	+	0	255																											GCTGCTCACTGAGAAGCTTCA	0.493000													16	114					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056886	48056886	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:48056886C>T	ENST00000316364.5	+	12	1588	c.1149C>T	c.(1147-1149)atC>atT	p.I383I	SEMA6D_ENST00000536845.2_Silent_p.I383I|SEMA6D_ENST00000558014.1_Silent_p.I383I|SEMA6D_ENST00000537942.1_Silent_p.I383I|SEMA6D_ENST00000354744.4_Silent_p.I383I|SEMA6D_ENST00000389432.2_Silent_p.I383I|SEMA6D_ENST00000389428.3_Silent_p.I383I|SEMA6D_ENST00000389433.2_Silent_p.I383I|SEMA6D_ENST00000358066.4_Silent_p.I383I|SEMA6D_ENST00000558816.1_Silent_p.I383I|SEMA6D_ENST00000355997.3_Silent_p.I383I|SEMA6D_ENST00000389425.3_Silent_p.I383I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	383	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAACCTCCATCGATTTCCCGG	0.517000													11	70					0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54933924	54933924	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:54933924C>T	ENST00000284061.3	+	8	1330	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	384					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCTCATGGCTCTCAATTTTCA	0.393000													9	68					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110504178	110504178	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:110504178G>A	ENST00000378402.5	+	62	10295	c.10191G>A	c.(10189-10191)caG>caA	p.Q3397Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3397					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAACCTATCAGAACAGAAAAG	0.338000										HNSCC(38;0.096)			3	12					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26380414	26380414	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:26380414C>T	ENST00000374272.3	-	8	1159	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	341						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GACTCTTCCTCTTCCTGATCT	0.433000													9	58					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16913608	16913608	+	Missense_Mutation	SNP	T	T	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:16913608T>C	ENST00000430580.2	-	11	1602	c.715A>G	c.(715-717)Act>Gct	p.T239A		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	239	NBPF 1.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ACAACCAGAGTTGAGTTGACT	0.448000													4	326					0	0	1	0	0
IKBKG	8517	broad.mit.edu	37	X	153780345	153780345	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:153780345C>T	ENST00000393549.2	+	2	251	c.128C>T	c.(127-129)tCa>tTa	p.S43L	IKBKG_ENST00000369606.4_Missense_Mutation_p.S43L|IKBKG_ENST00000369607.1_Missense_Mutation_p.S43L|IKBKG_ENST00000369602.3_Missense_Mutation_p.S43L|IKBKG_ENST00000263518.6_Missense_Mutation_p.S43L|IKBKG_ENST00000369601.3_Missense_Mutation_p.S43L|IKBKG_ENST00000455588.2_Missense_Mutation_p.S43L|IKBKG_ENST00000470142.1_Missense_Mutation_p.S43L|IKBKG_ENST00000369609.5_Missense_Mutation_p.S111L			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	43					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTGCCTTCAGAACAGGGC	0.627000													26	27					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259489	47259489	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47259489C>T	ENST00000256996.4	+	8	1320	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Silent_p.F311F|DDB2_ENST00000378600.3_Silent_p.F186F	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	375					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	p.F375F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TCGACGTGTTCGATGGAAACT	0.488000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				27	40					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102589795	102589795	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:102589795G>A	ENST00000327680.2	+	12	1686	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	PARPBP_ENST00000541394.1_Missense_Mutation_p.R566K|PARPBP_ENST00000358383.5_Missense_Mutation_p.R489K|PARPBP_ENST00000392911.2_Missense_Mutation_p.R408K|PARPBP_ENST00000543784.1_Silent_p.Q182Q|PARPBP_ENST00000378128.3_Silent_p.Q296Q|PARPBP_ENST00000535811.1_3'UTR	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	489					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CATCTGGACAGAAGTAAAAAT	0.353000													11	29					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856220	44856220	+	Silent	SNP	C	C	T	rs143153754		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:44856220C>T	ENST00000372262.3	-	3	997	c.597G>A	c.(595-597)acG>acA	p.T199T	CDH22_ENST00000537909.1_Silent_p.T199T	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	199	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TGCTGCCGTACGTGGGGTCAT	0.697000													4	21					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32907191	32907191	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:32907191G>A	ENST00000544455.1	+	10	1803	c.1576G>A	c.(1576-1578)Gat>Aat	p.D526N	BRCA2_ENST00000380152.3_Missense_Mutation_p.D526N	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	526					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCATATGACTGATCCAAACTT	0.358000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			18	118					0	0	1	0	0
MIF4GD	57409	broad.mit.edu	37	17	73262901	73262901	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:73262901C>G	ENST00000577542.1	-	7	974	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	MIF4GD_ENST00000579119.1_Missense_Mutation_p.E226Q|MIF4GD_ENST00000578305.1_3'UTR|MIF4GD_ENST00000580571.1_Missense_Mutation_p.E145Q|MIF4GD_ENST00000579297.1_Missense_Mutation_p.E238Q|MIF4GD_ENST00000325102.8_Missense_Mutation_p.E197Q|MIF4GD_ENST00000245551.5_Missense_Mutation_p.E231Q			A9UHW6	MI4GD_HUMAN	MIF4G domain containing	197					regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TCAATGATCTCCAGCAGCAGC	0.592000													17	68					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92047256	92047256	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:92047256G>A	ENST00000256343.3	-	27	3484	c.3328C>T	c.(3328-3330)Cat>Tat	p.H1110Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTTGATCTATGAATCAGCTCA	0.343000													22	65					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69965088	69965088	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:69965088G>A	ENST00000299293.2	+	8	796	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	FRS2_ENST00000397997.2_Missense_Mutation_p.E96K|FRS2_ENST00000550389.1_Missense_Mutation_p.E96K|FRS2_ENST00000549921.1_Missense_Mutation_p.E96K	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	96	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCGTGCAGAAGAATTATTTAA	0.318000											OREG0021986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	48					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191424	66191424	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:66191424G>A	ENST00000311034.2	+	7	1239	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	355					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TTCCCAGGAAGAGTGCTCCAG	0.567000													54	147					0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94337724	94337724	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:94337724C>G	ENST00000436063.2	-	5	2028	c.1971G>C	c.(1969-1971)ctG>ctC	p.L657L		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GATCATTTTTCAGTTCATTTG	0.373000													38	138					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44435891	44435891	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:44435891G>A	ENST00000255108.3	+	1	216	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.R15Q	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	15					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGCTGCAGCGAGAGACCGGG	0.652000													13	46					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43481846	43481846	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:43481846C>T	ENST00000532038.1	-	5	913	c.778G>A	c.(778-780)Gac>Aac	p.D260N	ARHGAP27_ENST00000442348.1_Missense_Mutation_p.D433N|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.D119N|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.D92N|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.D119N|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.D460N|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.D460N			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	460	WW 1.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTGGGGTGTCACCATCCTGG	0.597000													4	30					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84872125	84872125	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:84872125C>A	ENST00000262424.5	+	2	248	c.24C>A	c.(22-24)gtC>gtA	p.V8V	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.V8V|CRISPLD2_ENST00000567845.1_Silent_p.V8V|CRISPLD2_ENST00000569090.1_Silent_p.V8V	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	8						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						TGGGTGGTGTCATCCCCTTGG	0.622000													36	68					2.32173e-10	2.47512e-10	1	1	0
SEC22B	9554	broad.mit.edu	37	1	145115967	145115967	+	RNA	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:145115967G>C	ENST00000453618.1	+	0	1053							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										AGCTCACAGAGATGTGTATTA	0.403000													7	79					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68904997	68904997	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:68904997C>T	ENST00000262340.5	-	8	788	c.735G>A	c.(733-735)ctG>ctA	p.L245L		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	245					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AGTTGGGAGTCAGACCAAAAC	0.403000													22	64					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	629722	629722	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:629722G>C	ENST00000255622.6	+	3	718	c.675G>C	c.(673-675)ctG>ctC	p.L225L	PDE6B_ENST00000496514.1_Silent_p.L225L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	225					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCTATCACCTGAGCTACCTCC	0.542000													9	36					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97053869	97053869	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:97053869G>C	ENST00000326771.2	+	5	806	c.426G>C	c.(424-426)ttG>ttC	p.L142F	FHL5_ENST00000541107.1_Missense_Mutation_p.L142F	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	142	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAAAGCCTTTGATCTCCAAAG	0.413000													18	35					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37618316	37618316	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:37618316C>G	ENST00000399151.3	+	19	4123	c.4038C>G	c.(4036-4038)gtC>gtG	p.V1346V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1346					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGTGCAGGTCAAAAGTGTCG	0.537000													32	84					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108031960	108031960	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:108031960C>G	ENST00000278612.8	-	17	3958	c.3853G>C	c.(3853-3855)Gat>Cat	p.D1285H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1285					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTGATAATATCTATAGGTTCT	0.507000													16	47					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163189	138163189	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:138163189C>G	ENST00000409968.1	+	13	2685	c.2507C>G	c.(2506-2508)tCa>tGa	p.S836*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.S805*|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.S836*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCAGCTGTCTCATGCATCTCT	0.423000													12	33					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779471	36779471	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:36779471C>T	ENST00000416516.2	-	2	1170	c.680G>A	c.(679-681)aGa>aAa	p.R227K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	227						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCTGGGCCTCTGTCCTCTTT	0.587000													20	50					0	0	1	0	0
OR2H1	26716	broad.mit.edu	37	6	29429621	29429621	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:29429621C>T	ENST00000377136.1	+	4	540	c.75C>T	c.(73-75)ctC>ctT	p.L25L	OR2H1_ENST00000442615.1_Silent_p.L25L|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377132.1_Silent_p.L25L|OR2H1_ENST00000377133.1_Silent_p.L25L|OR2H1_ENST00000396792.2_Silent_p.L25L			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						AAAGGACTCTCTTTGTGGTTG	0.527000													15	78					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60835171	60835171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:60835171C>T	ENST00000313733.3	+	3	374	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Nonsense_Mutation_p.Q46*	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	58					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAACGGAATTCAGAAACACAG	0.453000													13	58					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49019290	49019290	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:49019290G>A	ENST00000226432.4	+	9	1394	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	CWH43_ENST00000513409.1_Missense_Mutation_p.G377E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	404					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GTTGGTGTGGGATTGTTGGGA	0.313000													16	55					0	0	1	0	0
SLC2A7	155184	broad.mit.edu	37	1	9063498	9063498	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:9063498G>A	ENST00000400906.1	-	12	1399	c.1400C>T	c.(1399-1401)cCg>cTg	p.P467L		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	467						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CTTGGTCTCCGGAATAACCAC	0.483000													9	57					0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865077	89865077	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:89865077C>A	ENST00000268124.5	-	16	2821	c.2488G>T	c.(2488-2490)Gac>Tac	p.D830Y	POLG_ENST00000442287.2_Missense_Mutation_p.D830Y	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	830					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCATCATAGTCGGGGTGCCTG	0.612000								DNA polymerases (catalytic subunits)					7	54					2.17888e-05	2.25511e-05	1	1	0
CPNE3	8895	broad.mit.edu	37	8	87560571	87560571	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:87560571C>G	ENST00000521271.1	+	12	1084	c.922C>G	c.(922-924)Cca>Gca	p.P308A	CPNE3_ENST00000198765.4_Missense_Mutation_p.P308A	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	308	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CCCAAGGTCTCCAGACTCCCT	0.493000													11	36					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49074242	49074242	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:49074242C>T	ENST00000376265.2	-	26	3155	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E967K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1021K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1032					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGTTTGGCCTCGTCCGTGCAG	0.567000													29	26					0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185702	56185702	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:56185702C>T	ENST00000312253.1	-	1	6	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATATTAACTTCAGCCATTTAT	0.383000													8	74					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73651767	73651767	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:73651767C>T	ENST00000264448.6	+	5	1085	c.974C>T	c.(973-975)tCg>tTg	p.S325L	ALMS1_ENST00000377715.1_Missense_Mutation_p.S325L|ALMS1_ENST00000409009.1_Missense_Mutation_p.S283L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	325					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.S325L(1)		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						GAGACTATTTCGTCTGTTGAT	0.418000													5	38					0	0	1	0	0
DDTL	100037417	broad.mit.edu	37	22	24313522	24313522	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:24313522G>C	ENST00000215770.5	+	3	346	c.332G>C	c.(331-333)aGa>aCa	p.R111T		NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	111						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						GGTGGCCCCAGATGCCCAGGA	0.493000													7	41					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65786302	65786302	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:65786302C>T	ENST00000312106.5	-	10	2334	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	733					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCTCACTTCTCAGTCATGGTC	0.597000													11	31					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583159	135583159	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:135583159G>A	ENST00000513104.1	-	7	2126	c.1844C>T	c.(1843-1845)aCg>aTg	p.T615M	TRPC7_ENST00000426057.2_Splice_Site_p.T499M|TRPC7_ENST00000355180.3_Splice_Site_p.T554M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	615					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATACTCACGTTGTAAACGC	0.483000													10	23					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80043456	80043456	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:80043456G>A	ENST00000306749.2	-	23	4242	c.4024C>T	c.(4024-4026)Ctg>Ttg	p.L1342L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1342					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGCAGGAGCAGAAAGCCCCCT	0.667000													3	8					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	64					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582291	24582291	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:24582291G>C	ENST00000319715.4	+	18	4336	c.3904G>C	c.(3904-3906)Gac>Cac	p.D1302H	RBBP6_ENST00000381039.3_Missense_Mutation_p.D462H|RBBP6_ENST00000348022.2_Missense_Mutation_p.D1268H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1302					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATATAATAATGACAATACCGC	0.373000													14	50					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262214	45262214	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:45262214G>C	ENST00000303230.4	-	8	2539	c.2482C>G	c.(2482-2484)Cag>Gag	p.Q828E		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	828						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCCCCTGCCTGAAGGCCCGTT	0.672000													8	32					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108636233	108636233	+	Missense_Mutation	SNP	G	G	A	rs145623152		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:108636233G>A	ENST00000218006.2	-	13	2767	c.2476C>T	c.(2476-2478)Cgg>Tgg	p.R826W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	826					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCCAACATCCGAAGCATAGAA	0.353000													64	60					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132512764	132512764	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:132512764C>T	ENST00000333577.4	+	28	5529	c.5420C>T	c.(5419-5421)tCa>tTa	p.S1807L	EP400_ENST00000389562.2_Missense_Mutation_p.S1770L|EP400_ENST00000330386.6_Missense_Mutation_p.S1690L|EP400_ENST00000389561.2_Missense_Mutation_p.S1771L|EP400_ENST00000332482.4_Missense_Mutation_p.S1734L			Q96L91	EP400_HUMAN	E1A binding protein p400	1807					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACTTCATCCTCAGAAAGTCCA	0.562000													40	123					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110777945	110777945	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:110777945G>C	ENST00000368919.3	-	2	395	c.329C>G	c.(328-330)tCg>tGg	p.S110W	SLC22A16_ENST00000456137.2_Missense_Mutation_p.S110W|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.S110W|SLC22A16_ENST00000330550.4_Missense_Mutation_p.S76W	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	110					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GCCCAAACTCGATGTGTTCTC	0.468000													26	73					0	0	1	0	0
MRPS28	28957	broad.mit.edu	37	8	80942415	80942415	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:80942415G>A	ENST00000276585.4	-	1	91	c.69C>T	c.(67-69)ttC>ttT	p.F23F	TPD52_ENST00000537855.1_Intron|MRPS28_ENST00000521605.1_Silent_p.F23F|MRPS28_ENST00000522987.1_5'UTR	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	23						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			GAAAGGGCCTGAAGAAGAGAA	0.587000													12	32					0	0	1	0	0
C1orf54	79630	broad.mit.edu	37	1	150246537	150246537	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:150246537C>G	ENST00000369102.1	+	4	864	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	C1orf54_ENST00000369098.3_Missense_Mutation_p.Q32E|C1orf54_ENST00000369099.3_Missense_Mutation_p.Q32E			Q8WWF1	CA054_HUMAN	chromosome 1 open reading frame 54	32						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAATATTATCAGGTGGTCTA	0.438000													27	124					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019842	184019842	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:184019842C>T	ENST00000310118.4	+	5	1245	c.687C>T	c.(685-687)gtC>gtT	p.V229V	PSMD2_ENST00000435761.1_Silent_p.V70V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.V99V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	229					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 ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATGCAAAGGTCTGCCTTTATC	0.512000													18	61					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13214662	13214662	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:13214662C>A	ENST00000197268.8	+	4	806	c.686C>A	c.(685-687)aCa>aAa	p.T229K		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	229						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTGACAGGGACACACAAGATG	0.458000													4	48					0.150653	0.151079	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512712	248512712	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:248512712C>T	ENST00000317861.1	+	1	636	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCATCTTTATCATCAGGTCTT	0.512000													18	43					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200534677	200534677	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:200534677C>G	ENST00000367350.4	-	24	4220	c.3782G>C	c.(3781-3783)aGa>aCa	p.R1261T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1261	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TGCTATAGTTCTTTCTTCATC	0.328000													14	36					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34560624	34560624	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:34560624G>A	ENST00000373973.3	+	2	298	c.125G>A	c.(124-126)gGa>gAa	p.G42E	CNBD2_ENST00000538900.1_Missense_Mutation_p.G42E|CNBD2_ENST00000349339.1_Missense_Mutation_p.G42E					cyclic nucleotide binding domain containing 2																		GGCCTCAGGGGATTCCGGGAA	0.473000													45	82					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907697	12907697	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:12907697G>C	ENST00000317869.6	-	2	671	c.446C>G	c.(445-447)tCa>tGa	p.S149*		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.S149*(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGTGTTTCCTGATAGACGTTG	0.498000													22	135					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65413350	65413350	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:65413350C>G	ENST00000394224.3	+	6	1481	c.1185C>G	c.(1183-1185)ctC>ctG	p.L395L	SIPA1_ENST00000394227.3_Silent_p.L395L|SIPA1_ENST00000527525.1_Silent_p.L395L|SIPA1_ENST00000534313.1_Silent_p.L395L	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	395	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CGCACTCCCTCTACACCACAT	0.552000													8	15					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45537717	45537717	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:45537717G>A	ENST00000291576.7	+	8	980	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	285						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTTCAATAAAGAAGGGGATTT	0.502000													50	124					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	607589	607589	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:607589C>A	ENST00000264555.5	+	14	2261	c.2133C>A	c.(2131-2133)atC>atA	p.I711I	PHRF1_ENST00000416188.2_Silent_p.I710I|PHRF1_ENST00000533464.1_Silent_p.I707I|PHRF1_ENST00000413872.2_Silent_p.I709I	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	711							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTGCCTGCATCAGCCGACTGA	0.687000													12	38					0.0135373	0.013643	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21139069	21139069	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:21139069G>C	ENST00000261383.3	-	8	1146	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Missense_Mutation_p.Q383E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	383	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAAAATTCCTGAGGCTGCAGA	0.483000													42	132					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186597	157186597	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:157186597G>C	ENST00000339562.4	-	3	464	c.102C>G	c.(100-102)ttC>ttG	p.F34L	NR4A2_ENST00000409572.1_Missense_Mutation_p.F34L|NR4A2_ENST00000539077.1_Missense_Mutation_p.F45L|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Missense_Mutation_p.F34L	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	34					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CTGGAGTTAAGAAATCGGAGC	0.507000													8	30					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742197	121742197	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:121742197G>A	ENST00000452319.1	+	12	1894	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	GLI2_ENST00000314490.11_Missense_Mutation_p.E284K|GLI2_ENST00000361492.4_Missense_Mutation_p.E612K|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	612					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTGCTCAAAGAGAATGGGGA	0.652000													17	48					0	0	1	0	0
GABPB1	2553	broad.mit.edu	37	15	50581767	50581767	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:50581767C>T	ENST00000380877.3	-	7	1219	c.796G>A	c.(796-798)Gat>Aat	p.D266N	GABPB1_ENST00000560825.1_Missense_Mutation_p.D265N|GABPB1_ENST00000543881.1_Missense_Mutation_p.D202N|GABPB1_ENST00000359031.4_Missense_Mutation_p.D266N|GABPB1_ENST00000396464.3_Missense_Mutation_p.D266N|GABPB1_ENST00000429662.2_Missense_Mutation_p.D278N|GABPB1_ENST00000220429.8_Missense_Mutation_p.D278N	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	278	Transcription activation and HCFC1 interaction.				positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGAATTCCATCTGTAACTATT	0.448000													32	52					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641304	122641304	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:122641304G>C	ENST00000303924.4	-	2	814	c.277C>G	c.(277-279)Caa>Gaa	p.Q93E		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	93						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GGATCTTCTTGATAGGCAGCG	0.418000													70	259					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182810219	182810219	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:182810219C>T	ENST00000265594.4	-	3	397	c.251G>A	c.(250-252)aGa>aAa	p.R84K	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	84	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATGGAATTTCTGTCAGCCTC	0.423000													20	59					0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186085307	186085307	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:186085307C>T	ENST00000458385.2	-	4	1466	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	449										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CTGTTGGTTTCACGGCCTCAA	0.393000													12	28					0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25901060	25901060	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:25901060C>G	ENST00000463407.1	+	11	1181	c.1038C>G	c.(1036-1038)ttC>ttG	p.F346L	NUPL1_ENST00000381718.3_Missense_Mutation_p.F334L|NUPL1_ENST00000381736.3_Missense_Mutation_p.F346L|NUPL1_ENST00000466694.1_3'UTR			Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	346	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AAAGCTACTTCAGAATCTTGG	0.318000													4	89					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86495312	86495312	+	Missense_Mutation	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:86495312A>G	ENST00000297814.2	-	11	2686	c.2543T>C	c.(2542-2544)aTg>aCg	p.M848T	KIF27_ENST00000334204.2_Missense_Mutation_p.M848T|KIF27_ENST00000376347.1_Missense_Mutation_p.M239T|KIF27_ENST00000413982.1_Intron	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	848					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTGATATTTCATGTGATCTAC	0.378000													37	86					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11071036	11071036	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:11071036C>T	ENST00000287766.4	+	12	1742	c.1321C>T	c.(1321-1323)Cag>Tag	p.Q441*	SLC6A1_ENST00000536032.1_Nonsense_Mutation_p.Q263*	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	441					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TAACATCACTCAGGTAAGCTC	0.587000													12	41					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14110416	14110416	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:14110416G>C	ENST00000261643.3	+	7	1295	c.1218G>C	c.(1216-1218)agG>agC	p.R406S	COX10_ENST00000536205.1_Missense_Mutation_p.R214S|COX10_ENST00000537334.1_Missense_Mutation_p.R189S	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	406					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CAGACCGCAGGAGCTCGCGGA	0.637000													14	50					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6908972	6908972	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:6908972G>C	ENST00000419673.2	+	16	1784	c.1567G>C	c.(1567-1569)Gaa>Caa	p.E523Q	ARHGAP28_ENST00000383472.4_Missense_Mutation_p.E682Q|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.E523Q|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.E518Q	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	505					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGGTTCATCAGAATGTATTAA	0.284000													12	38					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239180	48239180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:48239180C>A	ENST00000309562.2	+	1	837	c.819C>A	c.(817-819)taC>taA	p.Y273*		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTGTATTCTACACGGTCATCA	0.448000													28	57					2.47511e-08	2.61118e-08	1	1	0
ATP2B1	490	broad.mit.edu	37	12	89992998	89992998	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:89992998C>T	ENST00000428670.3	-	20	3703	c.3247G>A	c.(3247-3249)Gag>Aag	p.E1083K	ATP2B1_ENST00000261173.2_Missense_Mutation_p.E1083K|ATP2B1_ENST00000359142.3_Missense_Mutation_p.E1083K|ATP2B1_ENST00000393164.2_Missense_Mutation_p.E826K|ATP2B1_ENST00000348959.3_Missense_Mutation_p.E1047K			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1083					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AATTCCTCCTCAGGTATTTCT	0.428000													22	67					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498655	118498655	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118498655C>G	ENST00000361417.2	+	7	1527	c.1116C>G	c.(1114-1116)ctC>ctG	p.L372L	PHLDB1_ENST00000356063.5_Silent_p.L372L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	372										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGTGCTCTCAGTCAACCCA	0.637000													21	61					0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169836084	169836084	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:169836084C>G	ENST00000367771.6	-	8	982	c.768G>C	c.(766-768)ttG>ttC	p.L256F	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.L256F|SCYL3_ENST00000367772.4_Missense_Mutation_p.L256F	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTAAACTTTTCAAGAAATTCA	0.289000													8	40					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106092148	106092148	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:106092148C>G	ENST00000390543.2	-	0	255																											GGCTTGTGATCTACGTTGCAG	0.612000													16	113					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804399	75804399	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:75804399G>C	ENST00000550916.1	+	2	467	c.420G>C	c.(418-420)gaG>gaC	p.E140D	GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.E140D|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.E140D|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.E75D|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.E140D|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.E33D	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	140						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCATGCAGAGAAGAAAATGT	0.323000													18	57					0	0	1	0	0
RAD17	5884	broad.mit.edu	37	5	68669672	68669672	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:68669672G>A	ENST00000509734.1	+	4	736	c.58G>A	c.(58-60)Gac>Aac	p.D20N	RAD17_ENST00000380774.3_Missense_Mutation_p.D20N|RAD17_ENST00000345306.6_Missense_Mutation_p.D9N|RAD17_ENST00000521422.1_5'UTR|RAD17_ENST00000354868.5_Missense_Mutation_p.D9N|RAD17_ENST00000354312.3_Missense_Mutation_p.D9N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_5'UTR|RAD17_ENST00000305138.4_Missense_Mutation_p.D9N|RAD17_ENST00000361732.2_Missense_Mutation_p.D9N|RAD17_ENST00000282891.6_Intron			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	20					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		AGACTGGGTTGACCCATCATT	0.363000								Other conserved DNA damage response genes					17	34					0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69561513	69561513	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:69561513C>A	ENST00000261858.2	+	5	2012	c.1784C>A	c.(1783-1785)tCc>tAc	p.S595Y	GLCE_ENST00000559420.2_Missense_Mutation_p.S531Y	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	595					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						ATTGATGAGTCCCCAGTCTTC	0.493000													24	212					7.92952e-12	8.51734e-12	1	1	0
TNNT2	7139	broad.mit.edu	37	1	201332475	201332475	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:201332475C>T	ENST00000509001.1	-	11	805	c.519G>A	c.(517-519)cgG>cgA	p.R173R	TNNT2_ENST00000360372.4_Silent_p.R168R|TNNT2_ENST00000367317.4_Silent_p.R173R|TNNT2_ENST00000421663.2_Silent_p.R175R|TNNT2_ENST00000367320.2_Silent_p.R143R|TNNT2_ENST00000367315.2_Silent_p.R173R|TNNT2_ENST00000458432.2_Silent_p.R185R|TNNT2_ENST00000367318.5_Silent_p.R173R|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000236918.7_Silent_p.R178R|TNNT2_ENST00000367322.1_Silent_p.R173R	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	183			E -> K (in CMH2).		ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CCTTCTTCTTCCGGGCCTCAT	0.527000													29	111					0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416656	113416656	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:113416656G>T	ENST00000272542.3	+	7	1572	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	345					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AACCAGCATAGATAGCACCGT	0.453000													14	65					0.00185496	0.00188415	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107790427	107790427	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:107790427C>G	ENST00000379028.3	-	33	4313	c.3843G>C	c.(3841-3843)gaG>gaC	p.E1281D	NRCAM_ENST00000413765.2_Missense_Mutation_p.E1157D|NRCAM_ENST00000425651.2_Missense_Mutation_p.E1281D|NRCAM_ENST00000379024.4_Missense_Mutation_p.E1169D|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000351718.4_Missense_Mutation_p.E1160D			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1281					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCGGCTCTTTCTCTTTCTTAC	0.428000													36	117					0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46070185	46070185	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:46070185C>G	ENST00000306156.3	+	2	722	c.395C>G	c.(394-396)tCa>tGa	p.S132*	PRKCE_ENST00000467135.1_3'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	132					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			ATCGATCTCTCAGGGTCGTCG	0.498000													49	153					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178269183	178269183	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:178269183G>A	ENST00000448150.3	+	3	1151	c.333G>A	c.(331-333)ctG>ctA	p.L111L	RASAL2_ENST00000465723.1_3'UTR|RASAL2_ENST00000367649.3_Silent_p.L129L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGCGATGCCTGAGGAGAACTG	0.473000											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	55					0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217311861	217311861	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:217311861C>T	ENST00000357276.4	+	11	2161	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R611C	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	611					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTTTGGACTTCGCTACTGTGA	0.522000									Schimke Immuno-Osseous Dysplasia				18	104					0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705388	50705388	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:50705388G>A	ENST00000330651.6	-	7	685	c.585C>T	c.(583-585)ctC>ctT	p.L195L	MAPK11_ENST00000449719.2_Silent_p.L87L	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	195	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCATCCAGTTGAGCATGATCT	0.642000													4	37					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84125440	84125440	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:84125440G>C	ENST00000343411.3	-	7	1355	c.860C>G	c.(859-861)tCt>tGt	p.S287C	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	287	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAAACCAAGATGTGTAAGA	0.378000													15	52					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687688	61687688	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:61687688C>T	ENST00000577390.1	-	12	3178	c.2224G>A	c.(2224-2226)Gac>Aac	p.D742N	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGAATGGAGTCATATGGCGGG	0.493000													9	63					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28493829	28493829	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:28493829G>A	ENST00000261609.7	-	21	3212	c.3104C>T	c.(3103-3105)tCa>tTa	p.S1035L		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1035					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)		CAGACATGATGAAATCCGACG	0.373000													9	47					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166611	206166611	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:206166611G>A	ENST00000462231.1	+	19	2948	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AAGTTACAGTGATGACAGGAC	0.488000													4	6					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132593265	132593265	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:132593265C>G	ENST00000372447.3	-	6	480	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	C9orf78_ENST00000461762.1_5'UTR	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	143										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				AGACAGTCCTCTGCATTCTTT	0.453000													36	38					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67805433	67805433	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:67805433C>G	ENST00000216442.7	-	9	1199	c.649G>C	c.(649-651)Gag>Cag	p.E217Q	ATP6V1D_ENST00000555474.1_Missense_Mutation_p.E118Q|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.E162Q|ATP6V1D_ENST00000554236.1_3'UTR	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	217					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism			lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AAGTCCTTCTCAGATTTTTCC	0.378000													17	167					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60164085	60164085	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:60164085C>G	ENST00000300187.6	+	1	311	c.34C>G	c.(34-36)Cac>Gac	p.H12D	MS4A14_ENST00000395005.2_Missense_Mutation_p.H12D|MS4A14_ENST00000531783.1_Missense_Mutation_p.H12D|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000395001.1_5'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	12						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AAGGGCAACTCACGTCATCAC	0.453000													14	34					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60885545	60885545	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:60885545G>T	ENST00000252999.3	-	76	10596	c.10530C>A	c.(10528-10530)gtC>gtA	p.V3510V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3510	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCAGGGTGTGACCCCTGCCA	0.662000													16	53					4.75885e-15	5.18616e-15	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72964943	72964943	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:72964943G>A	ENST00000262209.4	-	14	1909	c.1702C>T	c.(1702-1704)Ctg>Ttg	p.L568L	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000524152.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	568						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTGGCTCAGAAGAAGCGCA	0.478000													24	75					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73459854	73459854	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:73459854C>T	ENST00000556143.1	-	4	1920	c.1200G>A	c.(1198-1200)ctG>ctA	p.L400L	ZFYVE1_ENST00000318876.5_Silent_p.L400L|ZFYVE1_ENST00000553891.1_Silent_p.L400L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	400						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACTGACCTTCAGGGCTTTGA	0.562000													10	37					0	0	1	0	0
TMEM14C	51522	broad.mit.edu	37	6	10730884	10730884	+	Silent	SNP	C	C	T	rs1045964		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:10730884C>T	ENST00000541412.1	+	6	709	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TMEM14C_ENST00000229563.5_Silent_p.F108F|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	108			F -> L (in dbSNP:rs1045964).		heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			TTAGTATGTTCAACAGACCCC	0.348000													11	109					0	0	1	0	0
PTCD1	26024	broad.mit.edu	37	7	99021556	99021556	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:99021556G>A	ENST00000292478.4	-	7	2012	c.1762C>T	c.(1762-1764)Cac>Tac	p.H588Y	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.H637Y|PTCD1_ENST00000555673.1_Missense_Mutation_p.H637Y	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	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)		STAD - Stomach adenocarcinoma(171;0.215)			CTGTAGATGTGAGTGTTGGGG	0.527000													13	28					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443804	158443804	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:158443804G>C	ENST00000243349.8	-	2	559	c.199C>G	c.(199-201)Cca>Gca	p.P67A	ACVR1C_ENST00000348328.5_Missense_Mutation_p.P67A|ACVR1C_ENST00000409680.3_Missense_Mutation_p.P17A|ACVR1C_ENST00000335450.7_Missense_Mutation_p.P67A	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTCAGTTCTGGAAGGGAGACA	0.433000													57	210					0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669212	99669212	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:99669212G>C	ENST00000303915.6	-	5	1862	c.895C>G	c.(895-897)Ctc>Gtc	p.L299V	ZNF3_ENST00000424697.1_Missense_Mutation_p.L299V|ZNF3_ENST00000299667.4_Missense_Mutation_p.L299V|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	299					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGGTGGGTGAGGGTGGAGCTC	0.537000													14	65					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021335	161021335	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:161021335G>A	ENST00000368013.3	-	10	1509	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R220W|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R397W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	397					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CCCCCAGCCCGGATGGCTGAC	0.592000													16	78					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39824166	39824166	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:39824166G>A	ENST00000216160.6	+	10	1347	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	TAB1_ENST00000331454.3_Missense_Mutation_p.E429K	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	429					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CACCCTGGACGAAGCCACCCC	0.647000													4	30					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728930	15728930	+	RNA	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:15728930C>A	ENST00000441682.2	+	0	382							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567000													32	98					2.2171e-23	2.43864e-23	1	1	0
NRXN2	9379	broad.mit.edu	37	11	64434880	64434880	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64434880G>A	ENST00000265459.6	-	9	2101	c.1640C>T	c.(1639-1641)tCt>tTt	p.S547F	NRXN2_ENST00000377551.1_Missense_Mutation_p.S547F|NRXN2_ENST00000409571.1_Missense_Mutation_p.S540F|NRXN2_ENST00000377559.3_Missense_Mutation_p.S516F	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	547	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCGCTGAGCAGAGCTGTGGCT	0.642000													9	69					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60742007	60742007	+	Missense_Mutation	SNP	C	C	T	rs3809553		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:60742007C>T	ENST00000261520.4	-	10	1393	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	NARG2_ENST00000439632.1_Missense_Mutation_p.E250K	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	387						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TCAAGACTCTCAATTTTTCGG	0.358000													17	90					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76129545	76129545	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:76129545C>T	ENST00000318430.5	+	6	964	c.590C>T	c.(589-591)tCc>tTc	p.S197F	TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	197						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GAGAGCAGCTCCGTGTACAGC	0.647000													16	110					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151669881	151669881	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:151669881G>C	ENST00000402676.2	+	4	595	c.355G>C	c.(355-357)Gac>Cac	p.D119H	AKAP12_ENST00000253332.1_Missense_Mutation_p.D119H|AKAP12_ENST00000359755.5_Missense_Mutation_p.D14H|AKAP12_ENST00000354675.6_Missense_Mutation_p.D21H|AKAP12_ENST00000490177.1_3'UTR	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	119					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGCAAAAGAGACTCCGATAA	0.453000													8	23					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141525	103141525	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:103141525G>A	ENST00000295269.4	+	10	2318	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	621					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CCAAACAAGTGAGAAGCAGGC	0.493000													46	180					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515940	41515940	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:41515940C>T	ENST00000324071.4	+	6	871	c.864C>T	c.(862-864)ctC>ctT	p.L288L	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	288					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCAGAACCTCAACCTCAACA	0.557000													11	40					0	0	1	0	0
CCNL2	81669	broad.mit.edu	37	1	1333680	1333680	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:1333680C>T	ENST00000400809.3	-	3	411	c.406G>A	c.(406-408)Gag>Aag	p.E136K	CCNL2_ENST00000408952.5_5'UTR|CCNL2_ENST00000408918.4_Missense_Mutation_p.E136K	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	136	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CTTGGGGCCTCTTCTATCTTG	0.537000													20	97					0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103187659	103187659	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:103187659C>T	ENST00000262241.6	+	10	1360	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	RCOR1_ENST00000570597.1_Silent_p.V375V	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	375	Interaction with KDM1A.|SANT 2.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ATATCCAGGTCATTCAGAAAT	0.413000													7	49					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425604	179425604	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:179425604C>G	ENST00000589042.1	-	326	85479	c.85255G>C	c.(85255-85257)Gac>Cac	p.D28419H	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19479H|TTN_ENST00000591111.1_Missense_Mutation_p.D26778H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D19354H|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D25851H|TTN_ENST00000342175.6_Missense_Mutation_p.D19546H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26778	Fibronectin type-III 107.						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)			CTTATACAGTCTTTAACTGTT	0.413000													10	25					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32557560	32557560	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:32557560G>A	ENST00000427288.1	+	7	1010	c.530G>A	c.(529-531)aGc>aAc	p.S177N	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000336294.5_Missense_Mutation_p.S292N|TMEM39B_ENST00000456834.2_3'UTR|TMEM39B_ENST00000373634.4_Missense_Mutation_p.S93N			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	292						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTGCTCGTCAGCTCCATGCTG	0.577000													16	39					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296384	28296384	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:28296384C>T	ENST00000284987.5	-	8	2902	c.2781G>A	c.(2779-2781)ttG>ttA	p.L927L	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	927	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AACATTTCTTCAACAAGCATT	0.483000													8	40					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290630	58290630	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:58290630G>T	ENST00000391702.3	+	4	913	c.546G>T	c.(544-546)agG>agT	p.R182S	ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.R225S|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.G183V	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAAACACAGGAGGATTCACA	0.428000													18	89					2.94398e-08	3.10353e-08	1	1	0
VPS51	738	broad.mit.edu	37	11	64876767	64876767	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64876767C>A	ENST00000279281.3	+	6	1551	c.1459C>A	c.(1459-1461)Cag>Aag	p.Q487K	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		GTTCTGCAGTCAGGGTGTCCG	0.617000													11	21					2.80697e-09	2.97455e-09	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71904407	71904407	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:71904407C>G	ENST00000373545.3	-	5	916	c.478G>C	c.(478-480)Gat>Cat	p.D160H	PHKA1_ENST00000339490.3_Missense_Mutation_p.D160H|PHKA1_ENST00000373539.3_Missense_Mutation_p.D160H|PHKA1_ENST00000541944.1_Missense_Mutation_p.D160H|PHKA1_ENST00000373542.4_Missense_Mutation_p.D160H			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	160					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TTGACTTCATCTAGGCTGTGG	0.353000													11	8					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226055718	226055718	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:226055718G>T	ENST00000366835.3	-	7	654	c.384C>A	c.(382-384)atC>atA	p.I128I		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	128						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACCATTCCAGGATCTGGTCAT	0.532000													16	24					6.94344e-10	7.39107e-10	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48603053	48603053	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:48603053G>C	ENST00000354276.3	-	5	649	c.322C>G	c.(322-324)Cga>Gga	p.R108G	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R118G|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R108G|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R108G	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	108	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CGGGTAAATCGATGTTTCAGG	0.498000													49	147					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101666	27101666	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:27101666C>G	ENST00000324856.7	+	18	5319	c.4948C>G	c.(4948-4950)Cag>Gag	p.Q1650E	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.Q1267E|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q1433E	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1650					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q1650*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGAAGCCACACAGCCTGTGTT	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	47					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252740	100252740	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:100252740C>G	ENST00000160382.5	-	4	377	c.271G>C	c.(271-273)Gag>Cag	p.E91Q		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCCAGTCCTCGACTGGGGCC	0.597000													4	28					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37357252	37357252	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:37357252C>G	ENST00000217420.1	+	2	1811	c.1548C>G	c.(1546-1548)atC>atG	p.I516M		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	516					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	AGGGCCTCATCGAAGCCTACC	0.672000													18	14					0	0	1	0	0
MKNK2	2872	broad.mit.edu	37	19	2043138	2043138	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2043138C>T	ENST00000250896.3	-	7	722	c.478G>A	c.(478-480)Gag>Aag	p.E160K	MKNK2_ENST00000541165.1_Missense_Mutation_p.E29K|MKNK2_ENST00000591601.1_Missense_Mutation_p.E160K|MKNK2_ENST00000309340.7_Missense_Mutation_p.E160K	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	160	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCATCTTCTCAAACACCAGG	0.637000													8	105					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436845	201436845	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:201436845G>C	ENST00000357799.4	+	7	1874	c.1776G>C	c.(1774-1776)ttG>ttC	p.L592F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	592					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATTGGATTTGAAAAAGTATG	0.328000													18	57					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	673707	673707	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:673707G>C	ENST00000506838.1	+	5	2593	c.69G>C	c.(67-69)aaG>aaC	p.K23N	MYL5_ENST00000400159.2_Missense_Mutation_p.K64N|MYL5_ENST00000505477.1_Missense_Mutation_p.K23N|MYL5_ENST00000511290.1_Missense_Mutation_p.K23N			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	64					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						TAACAGGCAAGACCAACGTCA	0.607000													7	18					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136073068	136073068	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:136073068C>T	ENST00000401392.1	-	7	922	c.710G>A	c.(709-711)aGa>aAa	p.R237K	ZRANB3_ENST00000264159.6_Missense_Mutation_p.R237K|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R237K			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	237						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGATGCCCCTCTACAATCCCA	0.338000													4	19					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27024173	27024173	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:27024173C>G	ENST00000376215.5	+	9	889	c.836C>G	c.(835-837)tCt>tGt	p.S279C	PDSS1_ENST00000470978.1_3'UTR|PDSS1_ENST00000376203.5_Intron	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	279					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTTCAGGTCTCTGTTCTAGGA	0.453000													32	75					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11269465	11269465	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:11269465C>T	ENST00000361445.4	-	25	3781	c.3705G>A	c.(3703-3705)cgG>cgA	p.R1235R		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1235					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TCCTAAGCATCCGATGCTGGT	0.463000													39	122					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107092422	107092422	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:107092422C>G	ENST00000273980.5	-	24	2512	c.2065G>C	c.(2065-2067)Gac>Cac	p.D689H	TBCK_ENST00000432496.2_Missense_Mutation_p.D689H|TBCK_ENST00000361687.4_Missense_Mutation_p.D626H|TBCK_ENST00000394706.3_Missense_Mutation_p.D650H|TBCK_ENST00000394708.2_Missense_Mutation_p.D689H|TBCK_ENST00000514689.1_5'UTR			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase							intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CGTTCAATGTCAATTTCTAGA	0.333000													13	55					0	0	1	0	0
BLMH	642	broad.mit.edu	37	17	28593929	28593929	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28593929G>A	ENST00000261714.6	-	11	1364	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	BLMH_ENST00000394819.3_Missense_Mutation_p.S310L	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	397					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						TTCACCCCATGAATTCTCCAC	0.502000													12	47					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194181396	194181396	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:194181396C>T	ENST00000439040.1	-	4	1007	c.216G>A	c.(214-216)ctG>ctA	p.L72L	ATP13A3_ENST00000256031.4_Silent_p.L72L			Q9H7F0	AT133_HUMAN	ATPase type 13A3	72					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAGTAGTCCTCAGCAGCACTA	0.418000													37	121					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56313074	56313074	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:56313074C>T	ENST00000443188.1	-	7	2745	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	NLRP11_ENST00000589093.1_Missense_Mutation_p.E679K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E580K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E625K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E625K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	679							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AGTAAGTCTTCAAAACCAGAA	0.438000													5	48					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048704	180048704	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:180048704G>C	ENST00000261937.6	-	13	1936	c.1858C>G	c.(1858-1860)Ctg>Gtg	p.L620V	FLT4_ENST00000502649.1_Missense_Mutation_p.L620V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.L620V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	620	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGCGGCCAGAGGGGTGGCG	0.682000													11	20					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170665054	170665054	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:170665054G>C	ENST00000409333.1	+	7	864	c.617G>C	c.(616-618)aGa>aCa	p.R206T	SSB_ENST00000260956.4_Missense_Mutation_p.R206T			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	206					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTAAATTAAGAGCTAAACAG	0.348000													14	50					0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990760	51990760	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:51990760G>A	ENST00000322241.4	+	1	1431	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_080865.3	NP_543141.3	Q9BZJ7	GPR62_HUMAN	G protein-coupled receptor 62	364						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCCACCTGAGAGTTCTCTCT	0.642000													7	15					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427093	78427093	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:78427093C>G	ENST00000276077.1	+	1	625	c.589C>G	c.(589-591)Ccg>Gcg	p.P197A		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	197						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTTTGTAACTCCGCTTCTGAT	0.443000										HNSCC(63;0.18)			30	30					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29769514	29769514	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:29769514C>G	ENST00000375398.2	-	31	5778	c.5329G>C	c.(5329-5331)Gag>Cag	p.E1777Q	SVIL_ENST00000538146.1_Missense_Mutation_p.E569Q|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E1777Q|SVIL_ENST00000375400.3_Missense_Mutation_p.E1351Q|SVIL_ENST00000535393.1_Missense_Mutation_p.E691Q|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA			O95425	SVIL_HUMAN	supervillin	1777					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCATCCCCCTCATGGAACTGC	0.552000													8	60					0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173939705	173939705	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:173939705C>G	ENST00000367696.2	-	9	1623	c.1272G>C	c.(1270-1272)caG>caC	p.Q424H	RC3H1_ENST00000367694.2_Missense_Mutation_p.Q424H|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q424H			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	424					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						ATCCTCCTCTCTGCTTCATAT	0.423000													24	96					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135269687	135269687	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:135269687C>G	ENST00000285968.6	+	8	1176	c.1150C>G	c.(1150-1152)Cag>Gag	p.Q384E	NUP205_ENST00000440390.2_Missense_Mutation_p.Q178E	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	384					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATACTTTTATCAGGAAGAATT	0.378000													9	32					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65357662	65357662	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:65357662G>A	ENST00000309295.4	+	15	4429	c.4164G>A	c.(4162-4164)ctG>ctA	p.L1388L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1388										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGATGCAGCTGAGGAGCCTCA	0.597000													6	26					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61843378	61843378	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:61843378G>A	ENST00000225726.5	-	2	540	c.158C>T	c.(157-159)tCt>tTt	p.S53F	CCDC47_ENST00000582252.1_Missense_Mutation_p.S53F|CCDC47_ENST00000403162.3_Missense_Mutation_p.S53F	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	53						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCGTTGAGGAGATTCAGTAAC	0.418000													56	197					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49195962	49195962	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:49195962C>T	ENST00000406846.2	-	9	848	c.729G>A	c.(727-729)aaG>aaA	p.K243K	FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.K217K|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	243					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGCCCTCAGCTTCTTAAGAT	0.433000									Gonadal Dysgenesis, 46 XX				15	65					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27493478	27493478	+	Splice_Site	SNP	T	T	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:27493478T>A	ENST00000396271.3	-	12	1582	c.1456A>T	c.(1456-1458)Aga>Tga	p.R486*	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Splice_Site_p.R495*|ACBD5_ENST00000375905.4_Splice_Site_p.R451*|ACBD5_ENST00000375897.3_Splice_Site_p.R309*|ACBD5_ENST00000375901.1_Splice_Site_p.R377*	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	495					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAAGATGGTCTCTGAGAAAAT	0.348000													15	30					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46135391	46135391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:46135391G>C	ENST00000374366.3	-	7	833	c.368C>G	c.(367-369)tCa>tGa	p.S123*	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Nonsense_Mutation_p.S197*|ZFAND4_ENST00000374371.2_Intron	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	197							zinc ion binding										ATCTGTATCTGAATTATACAT	0.348000													22	69					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085456	9085456	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:9085456G>C	ENST00000397910.4	-	1	6562	c.6359C>G	c.(6358-6360)aCt>aGt	p.T2120S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2120	Ser-rich.|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						AGTGTTCAAAGTACTCGCGGC	0.488000													39	89					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62253574	62253574	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:62253574C>T	ENST00000371158.2	+	8	1112	c.998C>T	c.(997-999)tCa>tTa	p.S333L	INADL_ENST00000316485.6_Missense_Mutation_p.S333L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	333					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGTGACATTTCAGTCACCCCC	0.507000													12	37					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89882287	89882287	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:89882287C>G	ENST00000389301.3	-	2	217	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	FANCA_ENST00000543736.1_Missense_Mutation_p.E63Q|FANCA_ENST00000568369.1_Missense_Mutation_p.E63Q|FANCA_ENST00000563673.1_Missense_Mutation_p.E63Q|FANCA_ENST00000534992.1_Missense_Mutation_p.E63Q|FANCA_ENST00000389302.3_Missense_Mutation_p.E63Q	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	63					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CCTCTTACCTCAAGCAAAAGG	0.522000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	99					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7680940	7680940	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:7680940C>G	ENST00000572933.1	+	33	6695	c.5235C>G	c.(5233-5235)ttC>ttG	p.F1745L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F1745L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1745	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AACTTCGGTTCTACTGGGAGA	0.468000													66	123					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139758	68139758	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:68139758C>G	ENST00000262215.3	-	26	4056	c.3667G>C	c.(3667-3669)Gag>Cag	p.E1223Q	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.E61Q|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E677Q	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1223					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCCCCTTTCTCTAAGAACTTC	0.373000													11	55					0	0	1	0	0
DPP9	91039	broad.mit.edu	37	19	4700242	4700242	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:4700242C>G	ENST00000262960.9	-	10	1337	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	DPP9_ENST00000597849.1_Missense_Mutation_p.D354H|DPP9_ENST00000594671.1_Missense_Mutation_p.D325H|DPP9_ENST00000598800.1_Missense_Mutation_p.D325H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	325					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CCCTGGCTGTCAGTCTGGAAC	0.572000													6	23					0	0	1	0	0
LHFP	10186	broad.mit.edu	37	13	40175328	40175328	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:40175328C>A	ENST00000379589.3	-	2	488	c.26G>T	c.(25-27)gGa>gTa	p.G9V		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	9						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		CCAGATTACTCCAGTACAAGT	0.517000			T	HMGA2	lipoma								10	61					0.00621372	0.00627113	1	1	0
ANKRD13A	88455	broad.mit.edu	37	12	110456221	110456221	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:110456221G>A	ENST00000261739.4	+	5	638	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	158										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						ACTGCGCGTCGATATCACATT	0.438000													18	57					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896462	24896462	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:24896462C>T	ENST00000396432.2	-	11	3136	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E671K|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	883					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCAGACCCTCATCATATGAT	0.378000													18	55					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963096	96963096	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:96963096C>T	ENST00000389672.5	+	5	1609	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	EPHA6_ENST00000470610.2_Missense_Mutation_p.P524L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	429	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTCCCAAGCCATTCACAGCT	0.388000													5	64					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79671425	79671425	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:79671425C>G	ENST00000571730.1	+	2	357	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	SLC25A10_ENST00000541223.1_Missense_Mutation_p.L76V|MRPL12_ENST00000333676.3_Missense_Mutation_p.L76V			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGCCTCACTCTCTTGGAAAT	0.592000													8	36					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566140	136566140	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:136566140C>G	ENST00000264162.2	-	8	3787	c.3777G>C	c.(3775-3777)tgG>tgC	p.W1259C		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1259	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTTCCTTGATCCAGTTCAGCA	0.547000													52	105					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237349	33237349	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:33237349C>T	ENST00000401073.2	+	6	2639	c.2569C>T	c.(2569-2571)Cag>Tag	p.Q857*	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Nonsense_Mutation_p.Q809*|KIAA1522_ENST00000373480.1_Nonsense_Mutation_p.Q798*	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	798	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAAGCTCCCTCAGAAGGAACC	0.682000													4	13					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965178	25965178	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:25965178G>A	ENST00000435504.4	-	13	4321	c.4028C>T	c.(4027-4029)tCt>tTt	p.S1343F	ASXL2_ENST00000272341.4_Missense_Mutation_p.S826F|ASXL2_ENST00000404843.1_Missense_Mutation_p.S826F|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1315F			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1343					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)					TGGTACAGCAGAGTTATGGTC	0.502000													16	34					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6642191	6642191	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:6642191G>C	ENST00000377674.4	+	3	922	c.764G>C	c.(763-765)aGg>aCg	p.R255T		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	255						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCTGACCAGGAGGAAGTCA	0.572000													18	27					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50123805	50123805	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:50123805C>G	ENST00000281631.5	+	20	2163	c.2005C>G	c.(2005-2007)Cag>Gag	p.Q669E	PARP8_ENST00000503750.2_Missense_Mutation_p.Q627E|PARP8_ENST00000514342.2_Missense_Mutation_p.Q380E|PARP8_ENST00000514067.2_Missense_Mutation_p.Q627E|PARP8_ENST00000505554.1_Missense_Mutation_p.Q648E|PARP8_ENST00000505697.2_Missense_Mutation_p.Q669E|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	669	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TACTCCACATCAGTTCCTTCT	0.353000													13	66					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4135771	4135771	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:4135771C>G	ENST00000380118.3	-	1	60	c.24G>C	c.(22-24)tgG>tgC	p.W8C	ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000361538.2_5'UTR|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000465828.1_5'UTR			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	8					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCGCCAGTCTCCAAGCCAAGT	0.726000													49	58					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128498515	128498515	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:128498515C>G	ENST00000325888.8	+	48	8377	c.8116C>G	c.(8116-8118)Ctc>Gtc	p.L2706V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.L2673V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2706	Interaction with INPPL1.|Self-association site, tail (By similarity).				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						GGACTACATCCTCATTGTCAA	0.572000													15	44					0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91543009	91543009	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:91543009C>G	ENST00000333371.3	-	22	2025	c.1672G>C	c.(1672-1674)Gac>Cac	p.D558H	VPS33B_ENST00000535906.1_Missense_Mutation_p.D531H|VPS33B_ENST00000535843.1_Missense_Mutation_p.D467H	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	558					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAAGCCTTGTCTTCCTTAGTC	0.547000													68	154					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472911	17472911	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:17472911G>A	ENST00000400588.1	-	2	437	c.330C>T	c.(328-330)ttC>ttT	p.F110F	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	110	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CCTTCTTGTTGAAGTTCAGAG	0.483000													70	129					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166619	206166619	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:206166619G>A	ENST00000462231.1	+	19	2956	c.2796G>A	c.(2794-2796)agG>agA	p.R932R	PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000406610.2_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTGATGACAGGACACTGTCTT	0.483000													3	4					0	0	1	0	0
FNBP1	23048	broad.mit.edu	37	9	132687432	132687432	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:132687432G>A	ENST00000420781.1	-	9	1012	c.794C>T	c.(793-795)tCa>tTa	p.S265L	FNBP1_ENST00000355681.3_Missense_Mutation_p.S265L|FNBP1_ENST00000446176.2_Missense_Mutation_p.S265L|FNBP1_ENST00000478129.1_5'UTR			Q96RU3	FNBP1_HUMAN	formin binding protein 1	265	Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TACCAGCTGTGAATCCTGAAA	0.408000			T	MLL	AML								23	27					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120918361	120918361	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:120918361C>T	ENST00000422003.2	+	3	446	c.258C>T	c.(256-258)ctC>ctT	p.L86L	TBCEL_ENST00000529397.1_Silent_p.L86L	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	86						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		ACAACAAACTCGAAGACTGGC	0.368000													20	57					0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81606069	81606069	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:81606069G>A	ENST00000541158.2	+	10	1061	c.739G>A	c.(739-741)Gag>Aag	p.E247K	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.E247K			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	247					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.E247K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAAGGCCTGGAGCACCTGAA	0.522000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						11	48					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153484987	153484987	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:153484987G>A	ENST00000288670.9	+	18	2707	c.2340G>A	c.(2338-2340)caG>caA	p.Q780Q	FMNL2_ENST00000475377.2_Silent_p.Q155Q	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	780	FH2.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTCATGCAGAAGATGACCA	0.493000													16	72					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60581721	60581721	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:60581721G>A	ENST00000406854.1	+	4	1453	c.899G>A	c.(898-900)gGa>gAa	p.G300E	PCNXL4_ENST00000404681.2_Missense_Mutation_p.G300E|PCNXL4_ENST00000317623.4_Missense_Mutation_p.G66E|PCNXL4_ENST00000406949.1_Missense_Mutation_p.G66E					pecanex-like 4 (Drosophila)																		ATGTCTGCTGGAACAGCTATA	0.308000													3	34					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:34805961G>A	ENST00000374789.3	-	3	674	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	117					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473000													14	34					0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9337327	9337327	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:9337327G>T	ENST00000262120.5	+	2	291	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	TWSG1_ENST00000581641.1_Missense_Mutation_p.D34Y	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	34	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGTGCTAGTGATGTGAGCAA	0.373000													18	57					1.99824e-07	2.09409e-07	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155242338	155242338	+	Missense_Mutation	SNP	G	G	C	rs75428836		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:155242338G>C	ENST00000357232.4	-	14	2847	c.2848C>G	c.(2848-2850)Cag>Gag	p.Q950E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 7.|Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAATATTCTGAGACATGATT	0.299000													7	35					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109860524	109860524	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:109860524C>A	ENST00000256637.6	-	16	2150	c.2092G>T	c.(2092-2094)Gac>Tac	p.D698Y	SORT1_ENST00000538502.1_Missense_Mutation_p.D561Y	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	698	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		AACTCCAGGTCGTGGCCCTTC	0.463000													12	59					1.5842e-08	1.67254e-08	1	1	0
SYT12	91683	broad.mit.edu	37	11	66811139	66811139	+	Missense_Mutation	SNP	G	G	A	rs145423474		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:66811139G>A	ENST00000393946.2	+	8	1814	c.652G>A	c.(652-654)Gat>Aat	p.D218N	SYT12_ENST00000527043.1_Missense_Mutation_p.D218N|SYT12_ENST00000525457.1_Missense_Mutation_p.D218N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	218	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CATCTTCTTTGATGAGAAGTT	0.562000													18	92					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239265	126239265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:126239265C>T	ENST00000394329.3	+	1	1712	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	567	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						GTCCTATGCCCAGCTTGTAGT	0.522000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53670984	53670984	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:53670984C>T	ENST00000257934.4	+	9	2149	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	ESPL1_ENST00000552462.1_Silent_p.I686I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	686					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCTTTACATCTGTACTCTGG	0.567000													23	51					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113276011	113276011	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:113276011G>C	ENST00000297405.5	-	61	9963	c.9719C>G	c.(9718-9720)tCt>tGt	p.S3240C	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3200C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3071C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3170C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3240	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTCCATTAGAGATCTGGGG	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	77					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995413	57995413	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:57995413C>T	ENST00000316770.2	-	1	977	c.935G>A	c.(934-936)cGt>cAt	p.R312H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGCTGCTTTACGGATAATGGC	0.498000													4	215					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24469142	24469142	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:24469142C>T	ENST00000355123.4	-	29	3876	c.3433G>A	c.(3433-3435)Gag>Aag	p.E1145K	ITSN2_ENST00000406921.3_Missense_Mutation_p.E1145K|ITSN2_ENST00000361999.3_Missense_Mutation_p.E1118K	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1145	SH3 5.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTGAGCTCATCTTCATTA	0.373000													19	45					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47147552	47147552	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:47147552G>A	ENST00000409792.3	-	6	4816	c.4774C>T	c.(4774-4776)Cga>Tga	p.R1592*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1592	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCTTCACTCGAGCTTTAAAC	0.398000			"""N, F, S, Mis"""		clear cell renal carcinoma								19	84					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111134908	111134908	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:111134908G>C	ENST00000360467.5	+	32	3110	c.2804G>C	c.(2803-2805)gGa>gCa	p.G935A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	935	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATGCCTGGACTCAAAGGG	0.512000													96	133					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24118828	24118828	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:24118828C>G	ENST00000238789.5	-	2	572	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	77							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTACCATCAACTTCAACT	0.368000													11	22					0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84125382	84125382	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:84125382G>A	ENST00000343411.3	-	7	1413	c.918C>T	c.(916-918)ctC>ctT	p.L306L	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	306	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CGCCGATGCTGAGGTTTAACA	0.463000													18	48					0	0	1	0	0
LOC101926911	101926911	broad.mit.edu	37	15	91573139	91573139	+	RNA	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:91573139G>C	ENST00000557804.1	+	0	243				AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA																							GGCTTTCACAGAGGTTCGGGT	0.383000													12	29					0	0	1	0	0
FSCN2	25794	broad.mit.edu	37	17	79495900	79495900	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:79495900G>A	ENST00000417245.2	+	1	479	c.343G>A	c.(343-345)Gag>Aag	p.E115K	FSCN2_ENST00000334850.7_Missense_Mutation_p.E115K	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	115					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CGGAGGCACCGAGGACCAGCT	0.716000													6	9					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014133	70014133	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:70014133C>G	ENST00000352241.4	+	10	1460	c.1297C>G	c.(1297-1299)Cat>Gat	p.H433D	MITF_ENST00000314557.6_Missense_Mutation_p.H326D|MITF_ENST00000531774.1_Missense_Mutation_p.H270D|MITF_ENST00000472437.1_Missense_Mutation_p.H381D|MITF_ENST00000394355.2_Missense_Mutation_p.H408D|MITF_ENST00000328528.6_Missense_Mutation_p.H432D|MITF_ENST00000394351.3_Missense_Mutation_p.H332D|MITF_ENST00000448226.2_Missense_Mutation_p.H439D|MITF_ENST00000314589.5_Missense_Mutation_p.H417D	NM_198159.2	NP_937802.1	O75030	MITF_HUMAN	microphthalmia-associated transcription factor	439					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)		CCTTCAGCATCATGCAGACCT	0.507000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						19	49					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836672	43836672	+	Missense_Mutation	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:43836672A>G	ENST00000372781.3	+	2	791	c.734A>G	c.(733-735)aAa>aGa	p.K245R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K245R	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACCAAGACAAACTCCAACAT	0.378000													20	109					0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174242741	174242741	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:174242741G>A	ENST00000265000.4	+	12	1930	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)	616	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AACCTGCACAGATTTACTCAT	0.388000													17	30					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64537372	64537372	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:64537372G>C	ENST00000358025.3	+	52	10671	c.10441G>C	c.(10441-10443)Gag>Cag	p.E3481Q	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.E3514Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E3481Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E115Q	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3481					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.E3481Q(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATTGAACGAGAGGCAATTAT	0.338000													3	33					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2932713	2932713	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:2932713G>A	ENST00000514800.1	-	11	1350	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	MFSD10_ENST00000329687.4_Intron|MFSD10_ENST00000355443.4_Intron|MFSD10_ENST00000507555.1_Intron|MFSD10_ENST00000508221.1_3'UTR			Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	0					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGTCCCCGAGGGGGCTGG	0.716000													7	27					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7842563	7842563	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:7842563G>A	ENST00000329913.3	-	2	1053	c.1006C>T	c.(1006-1008)Ccc>Tcc	p.P336S		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	336					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATGGAAATGGGAGACAGCTTG	0.478000													17	46					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342780	118342780	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118342780G>C	ENST00000534358.1	+	3	929	c.906G>C	c.(904-906)cgG>cgC	p.R302R	KMT2A_ENST00000389506.5_Silent_p.R302R|KMT2A_ENST00000354520.4_Silent_p.R302R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		TTGTACGACGGAGAGGAAGGC	0.438000													38	79					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189859048	189859048	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:189859048G>A	ENST00000304636.3	+	18	1453	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R428Q	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	428	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCTGGACTGCGAGGTGGTGCA	0.488000													11	39					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61290075	61290075	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:61290075G>A	ENST00000217159.1	+	3	1048	c.843G>A	c.(841-843)ctG>ctA	p.L281L	SLCO4A1_ENST00000370507.1_Silent_p.L281L	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	281					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCGGCTACCTGATTGGAGGTG	0.662000													5	15					0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171763634	171763634	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:171763634C>G	ENST00000361735.3	+	7	2058	c.1792C>G	c.(1792-1794)Cta>Gta	p.L598V	METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.L512V|METTL13_ENST00000458517.1_Missense_Mutation_p.L597V|METTL13_ENST00000367737.5_Missense_Mutation_p.L442V	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	598							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GCAATCTTTTCTACAGAAGGT	0.438000													26	42					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2474192	2474192	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:2474192C>G	ENST00000278772.4	-	4	637	c.150G>C	c.(148-150)caG>caC	p.Q50H	RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.Q50H|ZNF343_ENST00000381253.1_Missense_Mutation_p.Q50H|ZNF343_ENST00000358413.2_Missense_Mutation_p.Q50H	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CCTCCTTTTTCTGGGGGCAGT	0.478000													15	49					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670542	670542	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:670542C>T	ENST00000266383.5	+	20	2935	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	974						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGGAGCGTCTCTCCCTCAGGA	0.612000													4	20					0	0	1	0	0
PDAP1	11333	broad.mit.edu	37	7	99002573	99002573	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:99002573C>T	ENST00000350498.3	-	2	297	c.17G>A	c.(16-18)aGa>aAa	p.R6K		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	6					cell proliferation|signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)	GCCTCCCTTTCTTCCTGCAGA	0.612000													11	37					0	0	1	0	0
PSMD2	5708	broad.mit.edu	37	3	184019710	184019710	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:184019710C>A	ENST00000310118.4	+	5	1113	c.555C>A	c.(553-555)ctC>ctA	p.L185L	PSMD2_ENST00000435761.1_Silent_p.L26L|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Silent_p.L55L|PSMD2_ENST00000459910.1_3'UTR	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	185					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 ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGCCTCTGCTCACTCTGGTGA	0.542000													14	56					6.31663e-08	6.63433e-08	1	1	0
ANXA13	312	broad.mit.edu	37	8	124710770	124710770	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:124710770C>T	ENST00000262219.6	-	5	406	c.339G>A	c.(337-339)ctG>ctA	p.L113L	ANXA13_ENST00000419625.1_Silent_p.L72L	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	72					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGTTTCCACTCAGCTCACTCT	0.587000													19	61					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46113694	46113694	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:46113694G>A	ENST00000374366.3	-	10	2185	c.1720C>T	c.(1720-1722)Cat>Tat	p.H574Y	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.H648Y|ZFAND4_ENST00000374371.2_Missense_Mutation_p.S195L	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	648							zinc ion binding										GGGAGGTGATGAGTAGTACAT	0.373000													6	63					0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17608493	17608493	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:17608493C>G	ENST00000226299.4	+	12	1576	c.1302C>G	c.(1300-1302)ctC>ctG	p.L434L	LAP3_ENST00000606142.1_Silent_p.L403L|LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	434					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						GGATGCCTCTCTTCGAACATT	0.438000													6	41					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166221672	166221672	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:166221672C>T	ENST00000357398.3	+	18	3709	c.3419C>T	c.(3418-3420)tCa>tTa	p.S1140L	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1140L|SCN2A_ENST00000375437.2_Missense_Mutation_p.S1140L|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1140L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1140					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S1140*(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCAACTAGTTCATCTGAAGGC	0.408000													18	40					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650991	14650991	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:14650991C>G	ENST00000544627.1	+	15	4141	c.3821C>G	c.(3820-3822)tCt>tGt	p.S1274C	ATF7IP_ENST00000536444.1_Missense_Mutation_p.S1265C|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S1266C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S1266C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1266					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTGATCTCTTCTACCCAGAGC	0.383000													50	174					0	0	1	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249329	90249329	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:90249329C>T	ENST00000468879.1	+	0	466																											ATTACACTCTCACCATCAGCA	0.478000													67	227					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358355	70358355	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:70358355C>G	ENST00000558939.1	-	7	1952	c.575G>C	c.(574-576)aGa>aCa	p.R192T	TLE3_ENST00000440567.3_Missense_Mutation_p.R185T|TLE3_ENST00000317509.8_Missense_Mutation_p.R192T|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Missense_Mutation_p.R197T|TLE3_ENST00000558201.1_Missense_Mutation_p.R198T|TLE3_ENST00000559929.1_Missense_Mutation_p.R202T|TLE3_ENST00000557997.1_Missense_Mutation_p.R192T|TLE3_ENST00000451782.2_Missense_Mutation_p.R192T|TLE3_ENST00000560589.1_Missense_Mutation_p.R136T|TLE3_ENST00000442299.2_Missense_Mutation_p.R192T|TLE3_ENST00000558379.1_Missense_Mutation_p.R192T|TLE3_ENST00000539550.1_Missense_Mutation_p.R136T|TLE3_ENST00000557907.1_Missense_Mutation_p.R192T|TLE3_ENST00000560939.1_Missense_Mutation_p.R197T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	192	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGCCGCACCTCTGTGATCGAG	0.662000													5	41					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37647136	37647136	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:37647136G>C	ENST00000356958.4	-	3	452	c.194C>G	c.(193-195)tCa>tGa	p.S65*	ZNF585A_ENST00000355533.2_Nonsense_Mutation_p.S10*|ZNF585A_ENST00000392157.2_Nonsense_Mutation_p.S10*|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000292841.5_Nonsense_Mutation_p.S10*			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTACCTACTGAGAGCAGGTG	0.507000													16	83					0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105298851	105298851	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:105298851G>C	ENST00000262903.4	-	3	428	c.152C>G	c.(151-153)tCa>tGa	p.S51*	HACE1_ENST00000369125.2_Nonsense_Mutation_p.S51*	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	51					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTTTGAATTTGATAGTAGTTC	0.294000													46	94					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548108	102548108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:102548108C>A	ENST00000334701.7	-	12	2787	c.2506G>T	c.(2506-2508)Gaa>Taa	p.E836*	HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E714*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	714					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GGCATTTCTTCAGTTACAGCA	0.418000													18	80					1.87028e-06	1.95423e-06	1	1	0
POLDIP3	84271	broad.mit.edu	37	22	42998032	42998032	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:42998032G>A	ENST00000252115.5	-	3	585	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	POLDIP3_ENST00000348657.2_Intron|POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Missense_Mutation_p.H5Y	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	161					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGGGATGAAGTGGTGCC	0.498000													31	77					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79747198	79747198	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:79747198C>T	ENST00000335016.5	+	2	352	c.186C>T	c.(184-186)ttC>ttT	p.F62F	BMP2K_ENST00000502871.1_Silent_p.F62F	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	62	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity	p.F62F(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TAGGTGGATTCTCCACAGTTT	0.353000													22	48					0	0	1	0	0
PRR5	55615	broad.mit.edu	37	22	45121140	45121140	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:45121140G>C	ENST00000403581.1	+	5	910	c.301G>C	c.(301-303)Gag>Cag	p.E101Q	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.E69Q|PRR5_ENST00000336985.6_Missense_Mutation_p.E78Q|PRR5_ENST00000477331.1_Intron|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.E78Q|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.E78Q|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.E78Q|PRR5_ENST00000006251.7_Missense_Mutation_p.E69Q	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GTTGAAGACAGAGCTGGGGTC	0.637000													10	35					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61997287	61997287	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:61997287G>A	ENST00000332981.5	+	12	2120	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	RP11-47I22.4_ENST00000556347.1_Missense_Mutation_p.M83I|PRKCH_ENST00000555082.1_Missense_Mutation_p.E418K	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	579	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGGCTCCATGAAGATGCCAC	0.478000													13	64					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73945373	73945373	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:73945373C>G	ENST00000553558.1	-	18	3340	c.3019G>C	c.(3019-3021)Gag>Cag	p.E1007Q	HEATR4_ENST00000334988.2_Missense_Mutation_p.E1007Q|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000560393.1_Missense_Mutation_p.E960Q	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AATGTTCTCTCTGAGAATTTA	0.443000													13	76					0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56437549	56437549	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:56437549G>T	ENST00000584437.1	-	7	2868	c.913C>A	c.(913-915)Cag>Aag	p.Q305K	RNF43_ENST00000581868.1_Missense_Mutation_p.Q178K|RNF43_ENST00000407977.2_Missense_Mutation_p.Q305K|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Missense_Mutation_p.Q178K|RNF43_ENST00000577716.1_Missense_Mutation_p.Q305K|RNF43_ENST00000500597.2_Missense_Mutation_p.Q264K|RNF43_ENST00000583753.1_Missense_Mutation_p.Q264K			Q68DV7	RNF43_HUMAN	ring finger protein 43	305						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTCCGATGCTGATGTAACCAG	0.547000													22	88					3.5997e-14	3.91691e-14	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41966808	41966808	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:41966808G>A	ENST00000298919.7	+	10	1835	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E485K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E743K			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	743	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding	p.E485K(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAACACAGCTGAGAGCTGCAG	0.458000													24	67					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75847185	75847185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:75847185G>A	ENST00000322507.8	-	31	5671	c.5362C>T	c.(5362-5364)Cag>Tag	p.Q1788*	COL12A1_ENST00000483888.2_Nonsense_Mutation_p.Q1788*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.Q624*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.Q1788*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1788	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTGGAAGGCTGATAAGTGATC	0.403000													10	18					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	45					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.2																						TGCTGCCCGCAGGATATTGTG	0.562000													3	23					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180377133	180377133	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:180377133G>C	ENST00000340184.4	+	8	1298	c.1092G>C	c.(1090-1092)agG>agC	p.R364S	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000505126.1_Missense_Mutation_p.R157S|BTNL8_ENST00000511704.1_Missense_Mutation_p.R248S|BTNL8_ENST00000400707.3_Missense_Mutation_p.R239S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.R180S	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	364	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTGGACAGGAGGAAGGAGT	0.502000													11	80					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	475017	475017	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:475017G>C	ENST00000264938.3	-	16	2491	c.2482C>G	c.(2482-2484)Ctc>Gtc	p.L828V	SLC9A3_ENST00000514375.1_Missense_Mutation_p.L819V|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	828						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GACTCGGGGAGGGCGGCGGGG	0.716000													3	4					0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2134683	2134683	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:2134683C>G	ENST00000219476.3	+	34	5090	c.4460C>G	c.(4459-4461)tCc>tGc	p.S1487C	TSC2_ENST00000382538.6_Missense_Mutation_p.S1372C|TSC2_ENST00000568454.1_Missense_Mutation_p.S1431C|TSC2_ENST00000401874.2_Missense_Mutation_p.S1420C|TSC2_ENST00000353929.4_Missense_Mutation_p.S1444C|TSC2_ENST00000439673.2_Missense_Mutation_p.S1384C|TSC2_ENST00000350773.4_Missense_Mutation_p.S1464C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1487					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCCACAGCCTCCAATGCAGAG	0.637000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				9	16					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893504	27893504	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:27893504G>A	ENST00000307201.4	-	1	651	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	RP11-68I3.2_ENST00000581474.1_RNA|TP53I13_ENST00000584522.1_3'UTR	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	161						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGATCACCAGAAGCACCGCA	0.677000													8	41					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749538	51749538	+	Silent	SNP	C	C	G	rs1054625		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:51749538C>G	ENST00000395052.3	+	4	1983	c.1749C>G	c.(1747-1749)ctC>ctG	p.L583L	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	583					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGGCCACCCTCTTTGTGCTGG	0.627000													25	45					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163373	138163373	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:138163373C>G	ENST00000409968.1	+	13	2869	c.2691C>G	c.(2689-2691)ctC>ctG	p.L897L	THSD7B_ENST00000413152.2_Silent_p.L866L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Silent_p.L897L					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCGACAGCTCACAGGTATAG	0.478000													8	20					0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94639952	94639952	+	Missense_Mutation	SNP	G	G	C	rs77087768		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:94639952G>C	ENST00000260526.6	-	23	3441	c.3259C>G	c.(3259-3261)Caa>Gaa	p.Q1087E		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1087					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)		AGGCTGTTTTGTTCATACTGT	0.413000													42	151					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968963	62968963	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:62968963C>G	ENST00000430983.1	-	0	1372					NR_026903.1																						GTTTTACTCTCAAGCGATAGA	0.368000													5	28					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57367921	57367921	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:57367921C>T	ENST00000342756.5	+	19	2631	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F	SRP72_ENST00000510663.1_Missense_Mutation_p.S576F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	637					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTATCTGCCTCTACAAGTAAC	0.483000													7	21					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481680	99481680	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:99481680C>G	ENST00000376460.1	-	43	4857	c.4777G>C	c.(4777-4779)Gag>Cag	p.E1593Q	DOCK9_ENST00000339416.2_Missense_Mutation_p.E1594Q|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1594	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCAGCATCTCTGGGTCGTTC	0.557000													19	16					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119427466	119427466	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:119427466G>C	ENST00000273390.5	+	4	465	c.388G>C	c.(388-390)Gaa>Caa	p.E130Q	MAATS1_ENST00000463700.1_Missense_Mutation_p.E130Q	NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		GATGCCTAAAGAAGTTTATGA	0.269000													23	73					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218712610	218712610	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:218712610G>A	ENST00000171887.4	-	17	2707	c.2255C>T	c.(2254-2256)tCc>tTc	p.S752F	TNS1_ENST00000430930.1_Missense_Mutation_p.S752F|TNS1_ENST00000419504.1_Missense_Mutation_p.S752F	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	752						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGACGGGAGGATCCAGAGAG	0.657000													11	19					0	0	1	0	0
SNF8	11267	broad.mit.edu	37	17	47014389	47014389	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:47014389C>T	ENST00000502492.1	-	4	724	c.342G>A	c.(340-342)cgG>cgA	p.R114R	SNF8_ENST00000290330.3_Silent_p.R114R|SNF8_ENST00000514089.1_Intron|AC091133.1_ENST00000435491.1_RNA			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	114					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						CACCTCCATTCCGATGCTTCA	0.498000													20	183					0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678976	37678976	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:37678976C>G	ENST00000379800.3	-	1	827	c.418G>C	c.(418-420)Gat>Cat	p.D140H		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	140	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AGGAAGTTATCTGGTTTAATG	0.403000													44	82					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815801	215815801	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:215815801G>A	ENST00000272895.7	-	45	6873	c.6654C>T	c.(6652-6654)ttC>ttT	p.F2218F	ABCA12_ENST00000389661.4_Silent_p.F1900F|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2218					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATTTTCTGAAGAAAAGCCTAA	0.373000													21	55					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92624217	92624217	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:92624217G>C	ENST00000298047.6	+	27	13725	c.13708G>C	c.(13708-13710)Gag>Cag	p.E4570Q	FAT3_ENST00000533797.1_Missense_Mutation_p.E873Q|FAT3_ENST00000525166.1_Missense_Mutation_p.E4420Q|FAT3_ENST00000409404.2_Missense_Mutation_p.E4538Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4570					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)				GAGCGTGGGAGAGCTCAGCCT	0.522000										TCGA Ovarian(4;0.039)			5	19					0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115917381	115917381	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:115917381C>G	ENST00000369287.3	-	3	957	c.691G>C	c.(691-693)Gac>Cac	p.D231H		NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	231										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTTAAATTGTCTTTTTCTGAA	0.289000													14	32					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13910663	13910663	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:13910663G>C	ENST00000254323.2	+	2	472	c.283G>C	c.(283-285)Gat>Cat	p.D95H		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	95							zinc ion binding	p.D95N(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCGAGCACGATGCCCGGGT	0.637000													10	63					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108128241	108128241	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:108128241C>G	ENST00000278616.4	+	15	2669	c.2284C>G	c.(2284-2286)Ctg>Gtg	p.L762V	ATM_ENST00000452508.2_Missense_Mutation_p.L762V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	762					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGTATCACTCTGTTTAAAAA	0.328000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	50					0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36905578	36905578	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:36905578G>C	ENST00000451493.1	-	3	1183	c.966C>G	c.(964-966)ctC>ctG	p.L322L	SPG20_ENST00000355182.4_Silent_p.L322L|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000438666.2_Silent_p.L322L|SPG20_ENST00000494062.2_Silent_p.L322L	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	322					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GATCCTCAAAGAGCTCTCTAT	0.458000													12	82					0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6670928	6670928	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:6670928C>G	ENST00000541778.1	-	11	1585	c.1097G>C	c.(1096-1098)gGa>gCa	p.G366A	NOP2_ENST00000399466.2_Missense_Mutation_p.G366A|NOP2_ENST00000382421.3_Missense_Mutation_p.G403A|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.G366A|NOP2_ENST00000537442.1_Missense_Mutation_p.G370A|NOP2_ENST00000322166.5_Missense_Mutation_p.G370A			P46087	NOP2_HUMAN	NOP2 nucleolar protein	370					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						GCTGGAGGCTCCCTGCAGCAT	0.607000													6	10					0	0	1	0	0
ZNF138	7697	broad.mit.edu	37	7	64275397	64275397	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:64275397G>C	ENST00000437743.1	+	3	335	c.87G>C	c.(85-87)gaG>gaC	p.E29D	ZNF138_ENST00000359735.3_5'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.E35D|ZNF138_ENST00000440155.2_Missense_Mutation_p.E35D|ZNF138_ENST00000430838.2_Intron|ZNF138_ENST00000494380.1_Missense_Mutation_p.E35D|ZNF138_ENST00000440598.1_Missense_Mutation_p.E35D	NM_001271638.1|NM_001271649.1	NP_001258567.1|NP_001258578.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	35					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TGATGTTAGAGAACTACAGAA	0.398000													9	73					0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95419032	95419032	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:95419032C>G	ENST00000333003.5	-	13	1862		c.e13-1			NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTGGATGATCTGAAACATTA	0.348000													7	18					0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158812077	158812077	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:158812077G>A	ENST00000368141.4	+	2	395	c.134G>A	c.(133-135)aGa>aAa	p.R45K	MNDA_ENST00000491210.1_3'UTR	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	45	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GAATACAACAGAATTAAGATT	0.338000													17	55					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22472921	22472921	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:22472921C>G	ENST00000557788.2	-	0	349																											CACTGTGTCTCTCGCACAGTA	0.612000													22	382					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214828691	214828691	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:214828691G>A	ENST00000366955.3	+	17	8598	c.8430G>A	c.(8428-8430)gaG>gaA	p.E2810E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2906	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGAAAAGGAGATACTGCAGA	0.418000													6	37					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600726	13600726	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:13600726C>T	ENST00000040738.5	-	10	7933	c.7798G>A	c.(7798-7800)Gag>Aag	p.E2600K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2600							DNA binding										AAGTCCTGCTCACATTTAGGA	0.418000													13	74					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246810595	246810595	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:246810595C>G	ENST00000366513.4	+	9	1361	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	CNST_ENST00000366512.3_Silent_p.L364L|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	364					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGGAGCTGCTCTGCAGCGCTG	0.592000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	93					0	0	1	0	0
MCM9	254394	broad.mit.edu	37	6	119232887	119232887	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:119232887G>C	ENST00000316316.6	-	7	1364	c.1078C>G	c.(1078-1080)Cag>Gag	p.Q360E	MCM9_ENST00000316068.3_Missense_Mutation_p.Q360E	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	360	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TTGAGGAACTGAGATTTCCCT	0.373000													10	46					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52409983	52409983	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:52409983G>A	ENST00000420323.2	+	46	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2391	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACTCCTTGGAGAAAAAAGC	0.607000													15	56					0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43226780	43226780	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:43226780C>G	ENST00000332499.2	+	1	2097	c.223C>G	c.(223-225)Cag>Gag	p.Q75E		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	75					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCTCCCTTGCAGACCCAGGC	0.672000											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688011	1688011	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:1688011C>G	ENST00000344463.4	-	7	1086	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	NADK_ENST00000341426.5_Missense_Mutation_p.E144Q|NADK_ENST00000341991.3_Missense_Mutation_p.E144Q|NADK_ENST00000342348.5_Missense_Mutation_p.E112Q|NADK_ENST00000378625.1_Missense_Mutation_p.E289Q			O95544	NADK_HUMAN	NAD kinase	144					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCAGGGTCTTCTAGCACTTTC	0.527000													11	28					0	0	1	0	0
CXorf56	63932	broad.mit.edu	37	X	118675315	118675315	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:118675315C>G	ENST00000320339.4	-	6	706	c.435G>C	c.(433-435)atG>atC	p.M145I	CXorf56_ENST00000536133.1_Missense_Mutation_p.M180I|CXorf56_ENST00000371594.4_Missense_Mutation_p.M194I|CXorf56_ENST00000469448.1_5'UTR	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	194							protein binding			cervix(1)|endometrium(2)|lung(7)	10						GCCTCTTGCTCATGCCTTTGC	0.498000													29	44					0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134151352	134151352	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:134151352G>C	ENST00000372271.3	-	1	582	c.215C>G	c.(214-216)tCg>tGg	p.S72W		NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	72										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCTGGGCCGAGGCCCGGAA	0.617000													19	23					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6605215	6605215	+	Silent	SNP	G	G	A	rs141980284		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:6605215G>A	ENST00000321612.6	-	6	927	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	259					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)	ACACTCCACTGACATCTTTTC	0.478000													32	34					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76018490	76018490	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:76018490G>C	ENST00000237172.7	-	6	3889	c.3559C>G	c.(3559-3561)Cga>Gga	p.R1187G	FILIP1_ENST00000370020.1_Missense_Mutation_p.R1088G|FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1187										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTCTCAGCTCGAGGCTCGAAT	0.557000													32	51					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23837128	23837128	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:23837128C>T	ENST00000359788.4	-	4	775	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	203				Missing (in Ref. 2; BAC04216).	bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCACATTCTTCACATTTGCAG	0.323000													4	28					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130332087	130332087	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:130332087G>T	ENST00000299164.2	+	3	1196	c.1196G>T	c.(1195-1197)cGt>cTt	p.R399L		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	399	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R399H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CAGATCGACCGTGCCAACCCC	0.607000													22	43					6.21321e-17	6.7972e-17	1	1	0
ZNF517	340385	broad.mit.edu	37	8	146033168	146033168	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:146033168C>T	ENST00000359971.3	+	5	974	c.867C>T	c.(865-867)ttC>ttT	p.F289F	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000531720.1_Silent_p.F289F	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGAAGCCCTTCGCGTGCACAG	0.701000													9	31					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267816	40267816	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:40267816C>G	ENST00000225916.5	-	12	1853	c.1800G>C	c.(1798-1800)gaG>gaC	p.E600D		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	600	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGATGTGATACTCCTTCAGGT	0.577000													12	75					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155746188	155746188	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155746188G>A	ENST00000437809.1	-	16	2298	c.2176C>T	c.(2176-2178)Ctt>Ttt	p.L726F	GON4L_ENST00000271883.5_Missense_Mutation_p.L726F|GON4L_ENST00000368331.1_Missense_Mutation_p.L726F|GON4L_ENST00000361040.5_Missense_Mutation_p.L726F|GON4L_ENST00000471341.1_5'UTR	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	726					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAACTTACAAGAAATATCCTG	0.413000													6	30					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152456337	152456337	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:152456337G>T	ENST00000367255.5	-	142	26291	c.25690C>A	c.(25690-25692)Ctt>Att	p.L8564I	SYNE1_ENST00000539504.1_Missense_Mutation_p.L719I|SYNE1_ENST00000354674.4_Missense_Mutation_p.L742I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8516I|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8176I|SYNE1_ENST00000356820.4_Missense_Mutation_p.L3088I|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8564I|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8516I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8564					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAGCATAAGAAGCAAACCA	0.333000										HNSCC(10;0.0054)			11	21					9.31168e-06	9.67978e-06	1	1	0
CD177	57126	broad.mit.edu	37	19	43866366	43866366	+	RNA	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:43866366C>T	ENST00000378009.4	+	0	1369				CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				CCTCCTGCCTCTCAGCATGAG	0.632000													12	48					0	0	1	0	0
C14orf166	51637	broad.mit.edu	37	14	52471103	52471103	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:52471103C>G	ENST00000261700.3	+	8	769	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	C14orf166_ENST00000556760.1_Silent_p.L186L	NM_016039.2	NP_057123.1	Q9Y224	CN166_HUMAN	chromosome 14 open reading frame 166	202						microtubule organizing center|nucleus|perinuclear region of cytoplasm|tRNA-splicing ligase complex	identical protein binding			endometrium(1)|large_intestine(3)|lung(2)	6	Breast(41;0.0639)|all_epithelial(31;0.101)					TGAAGCTGCTCAAATTCTGCG	0.378000													9	43					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616756	25616756	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:25616756C>T	ENST00000232165.3	-	6	1221	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	UBE3A_ENST00000428984.2_Missense_Mutation_p.E169K|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.E192K|UBE3A_ENST00000566215.1_Missense_Mutation_p.E169K|UBE3A_ENST00000438097.1_Missense_Mutation_p.E169K	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	192					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCTTTTCATCTTCATCT	0.423000													40	84					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230816	1230816	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:1230816C>T	ENST00000381312.1	-	9	2353	c.2028G>A	c.(2026-2028)gcG>gcA	p.A676A	ADARB2_ENST00000381305.1_Silent_p.A78A|ADARB2_ENST00000381310.3_Silent_p.A185A	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	676	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A676A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CATACAGCCGCGCCCACCGTG	0.657000													4	24					0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44452936	44452936	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:44452936G>C	ENST00000372557.1	-	5	471	c.264C>G	c.(262-264)ttC>ttG	p.F88L	TNNC2_ENST00000372555.3_Missense_Mutation_p.F103L			P02585	TNNC2_HUMAN	troponin C type 2 (fast)	103					muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CGCACCTGTCGAAGATGCGGA	0.647000													13	51					0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31809260	31809260	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:31809260G>C	ENST00000446923.2	+	7	1340	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	ZEB1_ENST00000320985.10_Missense_Mutation_p.E333Q|ZEB1_ENST00000560721.2_Missense_Mutation_p.E313Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.E334Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.E266Q	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	333					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCAAAAGATAGAGAATAAACC	0.438000													14	29					0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108082573	108082573	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:108082573G>A	ENST00000412830.3	+	3	481	c.313G>A	c.(313-315)Gac>Aac	p.D105N	PWP1_ENST00000541166.1_Missense_Mutation_p.D43N	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	105					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGAGGAAGGTGACCCAGGTTA	0.433000													3	16					0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83527801	83527801	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:83527801C>A	ENST00000304231.8	-	5	699	c.507G>T	c.(505-507)ctG>ctT	p.L169L	HOMER2_ENST00000450735.2_Silent_p.L158L|HOMER2_ENST00000426485.1_Silent_p.L169L|HOMER2_ENST00000399166.2_Silent_p.L158L	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	169					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						AGGCAATCTTCAGCTTGTCAT	0.498000													12	70					3.07112e-06	3.2019e-06	1	1	0
DYRK1A	1859	broad.mit.edu	37	21	38868431	38868431	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:38868431G>T	ENST00000339659.4	+	8	2553	c.1083G>T	c.(1081-1083)atG>atT	p.M361I	DYRK1A_ENST00000321219.8_Missense_Mutation_p.M370I|DYRK1A_ENST00000338785.3_Missense_Mutation_p.M370I|DYRK1A_ENST00000398956.2_Missense_Mutation_p.M370I|DYRK1A_ENST00000451934.1_Missense_Mutation_p.M370I|DYRK1A_ENST00000455387.2_Missense_Mutation_p.M142I|DYRK1A_ENST00000398960.2_Missense_Mutation_p.M370I	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				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						TAGATCAGATGAATAAAATAG	0.353000													5	44					0.014758	0.0148627	1	1	0
DUS3L	56931	broad.mit.edu	37	19	5789535	5789535	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:5789535C>T	ENST00000309061.7	-	3	679	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	195					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GCCGCCAACTCCTCCTGCACC	0.711000													4	7					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560542	44560542	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:44560542G>C	ENST00000332567.4	-	1	1446	c.1094C>G	c.(1093-1095)tCt>tGt	p.S365C	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	365					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTCCACCTCAGAGAGGGAGCT	0.527000													29	40					0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126153195	126153195	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:126153195G>C	ENST00000393425.1	+	15	1701	c.1602G>C	c.(1600-1602)gaG>gaC	p.E534D	CCDC37_ENST00000352312.1_Missense_Mutation_p.E533D|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.E534D			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	533										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGCAGGCCGAGAGGGCAAAGG	0.627000													17	43					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39933787	39933787	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:39933787G>A	ENST00000342274.4	-	4	1174	c.812C>T	c.(811-813)tCg>tTg	p.S271L	BCOR_ENST00000397354.3_Missense_Mutation_p.S271L|BCOR_ENST00000378455.4_Missense_Mutation_p.S271L|BCOR_ENST00000378444.4_Missense_Mutation_p.S271L	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	271					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGAGGCCGAAGGTGTCGA	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						5	4					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236873	33236873	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:33236873C>T	ENST00000401073.2	+	6	2163	c.2093C>T	c.(2092-2094)tCt>tTt	p.S698F	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.S650F|KIAA1522_ENST00000373480.1_Missense_Mutation_p.S639F	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	639	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGGCCTGTTTCTACCACTGAC	0.632000													11	28					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	142053860	142053860	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:142053860C>T	ENST00000515673.2	-	1	136	c.103G>A	c.(103-105)Gag>Aag	p.E35K	RNF150_ENST00000306799.3_Missense_Mutation_p.E35K|RNF150_ENST00000420921.2_Intron|RNF150_ENST00000507500.1_Missense_Mutation_p.E35K			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					TCCTCCTTCTCGGCCACGGTA	0.647000													16	43					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237945	33237945	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:33237945C>T	ENST00000401073.2	+	6	3235	c.3165C>T	c.(3163-3165)ctC>ctT	p.L1055L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.L1007L|KIAA1522_ENST00000373480.1_Silent_p.L996L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	996										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAATGGGCTCCCTCACACCC	0.667000													13	26					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116428873	116428873	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:116428873C>T	ENST00000281928.3	-	17	4092	c.3886G>A	c.(3886-3888)Gaa>Aaa	p.E1296K		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1296					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACCAGAGCTTCGTCCACTTTT	0.488000													18	48					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52505832	52505832	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:52505832G>C	ENST00000345716.4	+	5	546	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	NISCH_ENST00000479054.1_Missense_Mutation_p.E138Q|NISCH_ENST00000420808.2_Missense_Mutation_p.E138Q|NISCH_ENST00000488380.1_Missense_Mutation_p.E138Q	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	138	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCTTGCAGGAGAACAGCTCCT	0.617000													16	38					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122775117	122775117	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:122775117C>T	ENST00000227349.2	+	3	1126	c.829C>T	c.(829-831)Cac>Tac	p.H277Y	C11orf63_ENST00000307257.6_Missense_Mutation_p.H277Y|C11orf63_ENST00000531316.1_Missense_Mutation_p.H277Y	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	277										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)		TCTTCAACTTCACAATAAAAA	0.408000													64	143					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10935876	10935876	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:10935876C>G	ENST00000314646.5	+	18	2201	c.2037C>G	c.(2035-2037)atC>atG	p.I679M	DNM2_ENST00000585892.1_Missense_Mutation_p.I679M|DNM2_ENST00000359692.6_Missense_Mutation_p.I675M|DNM2_ENST00000355667.6_Missense_Mutation_p.I679M|DNM2_ENST00000408974.4_Missense_Mutation_p.I675M|DNM2_ENST00000389253.4_Missense_Mutation_p.I679M			P50570	DYN2_HUMAN	dynamin 2	679	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAAAGACCATCATGCACCTCA	0.547000			"""F, N, Splice, Mis, O"""		ETP ALL								9	75					0	0	1	0	0
GHSR	2693	broad.mit.edu	37	3	172165939	172165939	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:172165939C>T	ENST00000241256.2	-	1	307	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GHSR_ENST00000427970.1_Missense_Mutation_p.D89N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	89					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATGAGCAGATCGGAGAAGGCC	0.617000													8	60					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520092	131520092	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:131520092G>C	ENST00000423981.1	+	2	557	c.447G>C	c.(445-447)aaG>aaC	p.K149N	AMER3_ENST00000321420.4_Missense_Mutation_p.K149N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		TCCCGAGGAAGAGGATTTCCC	0.602000													10	53					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365664	46365664	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:46365664C>G	ENST00000359930.4	-	3	1049	c.198G>C	c.(196-198)aaG>aaC	p.K66N	SULF2_ENST00000467815.1_Missense_Mutation_p.K66N|SULF2_ENST00000484875.1_Missense_Mutation_p.K66N|SULF2_ENST00000478766.1_5'UTR|SULF2_ENST00000361612.4_Missense_Mutation_p.K66N	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	66					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TGCGCCGGGTCTTGTTCATCA	0.642000													7	49					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856386	54856386	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:54856386C>T	ENST00000333896.5	+	13	2461	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	SPTBN1_ENST00000356805.4_Silent_p.I705I	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	705					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGACATGATCGCGGAGGAGC	0.607000													15	66					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806051	48806051	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:48806051C>A	ENST00000315396.7	-	10	1711	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	343										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCAACACCTTCTGCTGCTGCT	0.617000													17	103					3.52763e-06	3.67516e-06	1	1	0
CENPE	1062	broad.mit.edu	37	4	104066237	104066237	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:104066237C>T	ENST00000265148.3	-	32	4916	c.4827G>A	c.(4825-4827)ctG>ctA	p.L1609L	CENPE_ENST00000380026.3_Silent_p.L1584L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1609					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTCTTTCAGTTGGTCTC	0.323000													13	36					0	0	1	0	0
UBAC1	10422	broad.mit.edu	37	9	138847184	138847184	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:138847184C>T	ENST00000371756.3	-	2	433	c.216G>A	c.(214-216)ctG>ctA	p.L72L		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	72	Ubiquitin-like.					Golgi apparatus|plasma membrane	protein binding			NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGCATCACTCAGCACCCTCT	0.532000													117	134					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43547649	43547649	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:43547649G>C	ENST00000395891.2	+	23	4390	c.3785G>C	c.(3784-3786)gGa>gCa	p.G1262A	HECW1_ENST00000453890.1_Missense_Mutation_p.G1228A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTGTTGGAGGGAACCTTCAAT	0.532000													9	38					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49712891	49712891	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:49712891G>A	ENST00000492622.2	+	7	1074	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E201K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E257K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	257						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		aGAAAAAGATGAAGAAACTAA	0.254000													10	62					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798257	54798257	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:54798257G>C	ENST00000293379.4	-	14	1681	c.1420C>G	c.(1420-1422)Ctg>Gtg	p.L474V	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	474					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCACAATCAGATCTGTAAGA	0.498000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	86	185					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157361643	157361643	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:157361643C>G	ENST00000389413.3	-	20	2869	c.2766G>C	c.(2764-2766)cgG>cgC	p.R922R	PTPRN2_ENST00000404321.2_Silent_p.R974R|PTPRN2_ENST00000389418.4_Silent_p.R951R|PTPRN2_ENST00000409483.1_Silent_p.R913R|PTPRN2_ENST00000389416.4_Silent_p.R934R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	951	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R951R(1)|p.R951Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGCCGCTCCGGCCTGCAC	0.557000													15	51					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165448	206165448	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:206165448G>A	ENST00000406610.2	+	17	2587	c.2380G>A	c.(2380-2382)Gaa>Aaa	p.E794K	PARD3B_ENST00000462231.1_Missense_Mutation_p.E794K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E794K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E732K|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	794					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TGGACCTGAAGAAATAGAAGC	0.463000													17	61					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15614295	15614295	+	Missense_Mutation	SNP	T	T	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:15614295T>A	ENST00000378076.3	-	25	2905	c.2552A>T	c.(2551-2553)gAa>gTa	p.E851V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	851					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAGAAGAAATTCATCCCGGGC	0.438000													17	54					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6506103	6506103	+	Missense_Mutation	SNP	A	A	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:6506103A>G	ENST00000276893.5	+	16	2501	c.2333A>G	c.(2332-2334)aAt>aGt	p.N778S	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	778					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTTGGCCAGAATTACATCATG	0.448000													41	51					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62444394	62444394	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:62444394G>A	ENST00000294119.2	-	8	866	c.735C>T	c.(733-735)ctC>ctT	p.L245L	UBXN1_ENST00000301935.5_Silent_p.L245L|UBXN1_ENST00000529640.1_Silent_p.L241L|UBXN1_ENST00000533000.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	245	Interaction with BRCA1.|UBX.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCCCACGGTGGAGCTCCACAT	0.632000													19	104					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51934257	51934257	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:51934257G>C	ENST00000371117.3	-	11	1051	c.776C>G	c.(775-777)tCa>tGa	p.S259*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S259*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	259	IPT/TIG 3.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATAGTACCTGAGTGTGTCTG	0.453000													12	70					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	36002141	36002141	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:36002141G>A	ENST00000349699.2	-	2	327	c.284C>T	c.(283-285)tCa>tTa	p.S95L	DDX52_ENST00000394367.3_5'UTR	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	95						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				ACACTAACCTGAAGTCATCGT	0.353000													34	113					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129864228	129864228	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:129864228C>G	ENST00000281142.5	-	17	2058	c.1555G>C	c.(1555-1557)Gaa>Caa	p.E519Q	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	519						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTTTATTTTCTTGCTGAAGT	0.373000													12	61					0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494636	53494636	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:53494636G>T	ENST00000548547.1	+	2	751	c.469G>T	c.(469-471)Gag>Tag	p.E157*	IGFBP6_ENST00000301464.3_Nonsense_Mutation_p.E159*|IGFBP6_ENST00000549628.1_3'UTR			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	159					negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCAAGACACTGAGATGGTGCG	0.602000													9	73					2.17888e-05	2.25511e-05	1	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64599936	64599936	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:64599936G>C	ENST00000342711.5	-	27	3050	c.3051C>G	c.(3049-3051)atC>atG	p.I1017M	CDC42BPG_ENST00000491280.1_5'UTR	NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1017	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ATTGGGCATGGATAACATCAG	0.602000													7	25					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51140527	51140527	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:51140527C>G	ENST00000338916.4	-	1	775	c.142G>C	c.(142-144)Gat>Cat	p.D48H	SYT3_ENST00000544769.1_Missense_Mutation_p.D48H|SYT3_ENST00000593901.1_Missense_Mutation_p.D48H|SYT3_ENST00000600079.1_Missense_Mutation_p.D48H	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	48						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGACCTGCATCTGGACCCCGG	0.612000													22	52					0	0	1	0	0
IL17REL	400935	broad.mit.edu	37	22	50435842	50435842	+	Missense_Mutation	SNP	G	G	A	rs139236588		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:50435842G>A	ENST00000389983.2	-	13	1145	c.881C>T	c.(880-882)cCg>cTg	p.P294L	IL17REL_ENST00000341280.5_Missense_Mutation_p.P294L	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	294										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGTGGGCGGGGCTGGACG	0.637000													5	25					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113835542	113835542	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:113835542C>T	ENST00000375457.2	-	10	1278	c.682G>A	c.(682-684)Gag>Aag	p.E228K	PCID2_ENST00000375459.1_Missense_Mutation_p.E228K|PCID2_ENST00000246505.5_Missense_Mutation_p.E284K|PCID2_ENST00000337344.4_Missense_Mutation_p.E230K|PCID2_ENST00000375477.1_Missense_Mutation_p.E230K|PCID2_ENST00000375479.2_Missense_Mutation_p.E230K|PCID2_ENST00000493650.1_5'UTR	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	230					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AGGTACTCCTCAGCTGCAAAG	0.463000													5	62					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29769505	29769505	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:29769505C>A	ENST00000375398.2	-	31	5787	c.5338G>T	c.(5338-5340)Gcc>Tcc	p.A1780S	SVIL_ENST00000538146.1_Missense_Mutation_p.A572S|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.A1780S|SVIL_ENST00000375400.3_Missense_Mutation_p.A1354S|SVIL_ENST00000535393.1_Missense_Mutation_p.A694S|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA			O95425	SVIL_HUMAN	supervillin	1780					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCACATAGGCATCCCCCTCA	0.557000													7	52					0.00198382	0.00201072	1	1	0
APOBEC3C	27350	broad.mit.edu	37	22	39413874	39413874	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:39413874C>A	ENST00000361441.4	+	3	558	c.278C>A	c.(277-279)tCt>tAt	p.S93Y	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TGGTACACATCTTGGAGCCCT	0.547000													28	119					2.44723e-14	2.66493e-14	1	1	0
NRN1	51299	broad.mit.edu	37	6	6002725	6002725	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:6002725G>C	ENST00000244766.2	-	2	278	c.61C>G	c.(61-63)Ctg>Gtg	p.L21V	NRN1_ENST00000495850.1_5'UTR	NM_001278710.1|NM_016588.2	NP_001265639.1|NP_057672.1	Q9NPD7	NRN1_HUMAN	neuritin 1	21						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		GCCTGCACCAGATACGCTGCG	0.667000													20	47					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145692627	145692627	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:145692627C>T	ENST00000301332.2	+	4	749	c.372C>T	c.(370-372)ctC>ctT	p.L124L		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	124					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCAGTCAGCTCTTGGCCCTTC	0.662000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	90					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203786217	203786217	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:203786217G>C	ENST00000545588.1	+	2	3846	c.19G>C	c.(19-21)Gac>Cac	p.D7H	ZC3H11A_ENST00000367210.1_Missense_Mutation_p.D7H|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.D7H|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.D7H|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.D7H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	7							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCAAGGAGAAGACTGCTATTT	0.373000													14	65					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25271212	25271212	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:25271212G>A	ENST00000216962.4	+	16	2033	c.1923G>A	c.(1921-1923)ttG>ttA	p.L641L		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	641					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GTGACAGGTTGAAAGTGATCT	0.557000													33	101					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15443798	15443798	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:15443798G>C	ENST00000295297.4	+	3	525	c.266G>C	c.(265-267)aGa>aCa	p.R89T	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R82T|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R82T	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	82	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GAAGGTTTGAGAGGTAAGACT	0.443000													12	66					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16774596	16774596	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:16774596G>T	ENST00000337132.5	+	4	430	c.340G>T	c.(340-342)Gat>Tat	p.D114Y	NECAP2_ENST00000443980.2_Missense_Mutation_p.D114Y|NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000406746.1_Missense_Mutation_p.D114Y|NECAP2_ENST00000457722.2_Missense_Mutation_p.D88Y	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	114					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGACCGAGGTGATGCCTTTGA	0.522000													41	113					1.32136e-16	1.44444e-16	1	1	0
DOT1L	84444	broad.mit.edu	37	19	2202730	2202730	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2202730C>T	ENST00000398665.3	+	9	775	c.739C>T	c.(739-741)Cct>Tct	p.P247S		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	247						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCTTTGGTCCTGAGGTGGA	0.532000													8	68					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48802890	48802890	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:48802890G>T	ENST00000314191.2	-	33	4052	c.3996C>A	c.(3994-3996)agC>agA	p.S1332R	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1332R|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1333					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CGGTGCATTTGCTGTAGTTGT	0.498000								Non-homologous end-joining					5	20					0.0215528	0.0216902	1	1	0
AP4B1	10717	broad.mit.edu	37	1	114444391	114444391	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:114444391C>T	ENST00000369569.1	-	3	735	c.455G>A	c.(454-456)gGa>gAa	p.G152E	AP4B1_ENST00000256658.4_Missense_Mutation_p.G152E|AP4B1_ENST00000369566.3_Intron|AP4B1_ENST00000369567.1_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	152					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCAGAGTCTCCATGAAGATT	0.398000													28	79					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58299227	58299227	+	Silent	SNP	C	C	T	rs144660243		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:58299227C>T	ENST00000377918.3	+	4	3305	c.3279C>T	c.(3277-3279)tcC>tcT	p.S1093S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1093					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCATGGCTTCCGATCAGATGG	0.542000													14	126					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012595	189012595	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:189012595C>T	ENST00000512729.1	-	7	1470	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	TRIML2_ENST00000326754.3_Missense_Mutation_p.D391N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	366	B30.2/SPRY.						ligase activity	p.D366Y(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		GGACTTGTGTCTCCATTTGGG	0.463000													27	51					0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24883912	24883912	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:24883912C>G	ENST00000396432.2	-	21	4329	c.3843G>C	c.(3841-3843)ctG>ctC	p.L1281L	ARHGAP21_ENST00000320481.6_Silent_p.L1068L	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1280	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTGTCTTCAGATGAGCTG	0.313000													12	36					0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96416174	96416174	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:96416174G>C	ENST00000602402.1	+	9	1159	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	DNAJC3_ENST00000376795.6_Missense_Mutation_p.E297Q	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	348					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGATCGAGCAGAGGCCTATTT	0.373000													54	129					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91007865	91007865	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:91007865C>T	ENST00000357056.2	-	21	2551	c.2430G>A	c.(2428-2430)gtG>gtA	p.V810V	TTC7B_ENST00000328459.6_Silent_p.V793V|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	793							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CTGTCGAGTTCACCTGCACCG	0.632000													9	18					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709463	91709463	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:91709463C>G	ENST00000359028.2	+	32	8277	c.8052C>G	c.(8050-8052)ctC>ctG	p.L2684L	AKAP9_ENST00000356239.3_Silent_p.L2672L|AKAP9_ENST00000358100.2_Silent_p.L2684L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2684	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGAAGTTCTCAAGGTTAGTT	0.323000			T	BRAF	papillary thyroid								4	18					0	0	1	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971490	118971490	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118971490C>A	ENST00000409993.2	-	5	1897	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_Missense_Mutation_p.D9Y|DPAGT1_ENST00000354202.4_Missense_Mutation_p.D116Y			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	116					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCAGTACATCATCCGCAAAG	0.557000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	37					2.17888e-05	2.25511e-05	1	1	0
THOC5	8563	broad.mit.edu	37	22	29938894	29938894	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:29938894C>G	ENST00000490103.1	-	5	528	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	THOC5_ENST00000397873.2_Missense_Mutation_p.E136Q|THOC5_ENST00000397872.1_Missense_Mutation_p.E136Q|THOC5_ENST00000397871.1_Missense_Mutation_p.E136Q	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	136	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCATCACCTCATACAACAGG	0.468000													10	26					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583382	24583382	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:24583382G>C	ENST00000319715.4	+	18	5427	c.4995G>C	c.(4993-4995)ctG>ctC	p.L1665L	RBBP6_ENST00000381039.3_Silent_p.L825L|RBBP6_ENST00000348022.2_Silent_p.L1631L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1665					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTAAGGACCTGAAAGATAAAA	0.438000													26	56					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176619	41176619	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:41176619C>T	ENST00000263413.3	-	8	1390	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D376N	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	376	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGAGAAGGTCATACACGCCT	0.418000													5	47					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55685915	55685915	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:55685915G>A	ENST00000354308.3	-	8	1299	c.930C>T	c.(928-930)ttC>ttT	p.F310F	SYT5_ENST00000590851.1_Silent_p.F306F|SYT5_ENST00000537500.1_Silent_p.F310F|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	310	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F310L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCGAAGCTGAAAGCTTCGT	0.532000													17	115					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111913005	111913005	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:111913005G>C	ENST00000368761.5	-	2	763	c.285C>G	c.(283-285)ttC>ttG	p.F95L	TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.F104L|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.F95L	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	104					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GTCTCCTGCAGAAACTGTCTT	0.587000													7	59					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258341	25258341	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:25258341C>G	ENST00000328086.7	-	5	1979	c.1176G>C	c.(1174-1176)caG>caC	p.Q392H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	392					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGGTTCGACACTGTTCTGGGG	0.478000													55	122					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704505	30704505	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:30704505C>T	ENST00000256246.2	-	1	2103	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	677										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTTCAATTTCACTTTCCAAT	0.289000													10	63					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113974731	113974731	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:113974731G>A	ENST00000332556.4	+	6	1016	c.822G>A	c.(820-822)gtG>gtA	p.V274V	LAMP1_ENST00000397181.3_Silent_p.V221V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	274	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCCACCTGGTGACTCTGGAGC	0.632000													55	76					0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160845	56160845	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:56160845G>C	ENST00000586790.1	+	3	1112	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	CCDC106_ENST00000308964.3_Missense_Mutation_p.E70Q|CCDC106_ENST00000588740.1_Missense_Mutation_p.E70Q|CCDC106_ENST00000591578.1_Missense_Mutation_p.E70Q|CCDC106_ENST00000591241.1_Missense_Mutation_p.E35Q			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	70						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATGGCTCTGGAGAGGAACTC	0.617000													8	30					0	0	1	0	0
FGFR1OP	11116	broad.mit.edu	37	6	167436056	167436056	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:167436056G>A	ENST00000366847.4	+	8	970	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	FGFR1OP_ENST00000349556.4_Missense_Mutation_p.E227K|RP11-517H2.6_ENST00000609590.1_RNA	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner						G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		TTGTCCAGATGAAGATGATAT	0.393000			T	FGFR1	"""MPD, NHL"""								13	29					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21799989	21799989	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:21799989G>A	ENST00000318220.6	+	10	1731	c.683G>A	c.(682-684)aGa>aAa	p.R228K	NBPF3_ENST00000318249.5_Missense_Mutation_p.R284K|NBPF3_ENST00000454000.2_Missense_Mutation_p.R214K|NBPF3_ENST00000342104.5_Missense_Mutation_p.R284K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	284	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAACACCAGAATCACATTT	0.478000													40	196					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739650	46739650	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:46739650C>G	ENST00000306448.4	-	2	1314	c.201G>C	c.(199-201)caG>caC	p.Q67H	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.Q67H	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	67					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			GGATTTTCTTCTGCTGCTCTA	0.468000													29	81					0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56569066	56569066	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:56569066C>T	ENST00000323456.5	-	19	3670	c.3546G>A	c.(3544-3546)atG>atA	p.M1182I	MTMR4_ENST00000579925.1_Missense_Mutation_p.M1125I	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1182						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)					GCTGTTGGCTCATGAGTTCCC	0.478000													14	71					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62763524	62763524	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:62763524C>G	ENST00000336232.2	-	6	997	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	SLC22A8_ENST00000311438.8_Missense_Mutation_p.E288Q|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E197Q|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E288Q|SLC22A8_ENST00000535878.1_Missense_Mutation_p.E165Q	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	288					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CTTTCTCCCTCTTCCTTCTTG	0.582000													12	50					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739523	46739523	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:46739523C>G	ENST00000306448.4	-	2	1441	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E110Q	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	110					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGTAGACCTCTGGGTCCTCC	0.567000													11	47					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51205763	51205763	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:51205763C>T	ENST00000293441.1	-	11	1726	c.1708G>A	c.(1708-1710)Gag>Aag	p.E570K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E570K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E570K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	570	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATCTCCCCCTCGGCTTGGGCC	0.667000													6	16					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886015	60886015	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:60886015G>A	ENST00000252999.3	-	74	10290	c.10224C>T	c.(10222-10224)ctC>ctT	p.L3408L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3408	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGAGTCCCGAGGCCTTCCA	0.701000													12	24					0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47837037	47837037	+	Silent	SNP	C	C	T	rs140364188		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47837037C>T	ENST00000378460.2	-	13	1726	c.1680G>A	c.(1678-1680)ctG>ctA	p.L560L	NUP160_ENST00000528501.1_Silent_p.L124L|NUP160_ENST00000528071.1_Silent_p.L446L|NUP160_ENST00000530326.1_Silent_p.L446L|NUP160_ENST00000531016.1_5'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	560					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTACTTTTTTCAGCAGGCACA	0.428000													9	71					0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049660	36049660	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:36049660C>A	ENST00000379919.4	-	1	1172	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	206					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTGAAACCTTCCGCCTTGACC	0.647000													11	102					2.80697e-09	2.97455e-09	1	1	0
ULK4	54986	broad.mit.edu	37	3	41961251	41961251	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:41961251C>T	ENST00000301831.4	-	6	1063	c.601G>A	c.(601-603)Gac>Aac	p.D201N	ULK4_ENST00000420927.1_Missense_Mutation_p.D201N	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	201	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GACCAGAGGTCACTGGAGATG	0.413000													12	87					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230829037	230829037	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:230829037G>A	ENST00000534989.1	+	18	2273		c.e18-1		COG2_ENST00000366668.3_Splice_Site|COG2_ENST00000366669.4_Splice_Site|COG2_ENST00000546013.1_Splice_Site|COG2_ENST00000535166.1_Splice_Site			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2						Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGCCTTTGCAGATACAAAAGT	0.433000													12	50					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067078	62067078	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:62067078C>G	ENST00000404929.1	-	3	1072	c.1061G>C	c.(1060-1062)cGa>cCa	p.R354P	FAM161A_ENST00000405894.3_Missense_Mutation_p.R354P	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	354					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGCTTTAAATCGATTTGTTTT	0.398000													11	143					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81346574	81346574	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:81346574G>A	ENST00000222390.5	-	11	1605	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	HGF_ENST00000457544.2_Missense_Mutation_p.P455L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	460	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATAATCCCAAGGAATGAGTGG	0.388000													10	71					0	0	1	0	0
SPINK8	646424	broad.mit.edu	37	3	48360988	48360988	+	Splice_Site	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:48360988G>C	ENST00000434006.1	-	3	237	c.238C>G	c.(238-240)Cta>Gta	p.L80V		NM_001080525.1	NP_001073994.1	P0C7L1	ISK8_HUMAN	serine peptidase inhibitor, Kazal type 8 (putative)	80	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGACTTACAGAATTTTGGAG	0.428000													9	18					0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15731548	15731548	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:15731548C>T	ENST00000399451.2	-	18	2218	c.1851G>A	c.(1849-1851)aaG>aaA	p.K617K	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.K650K	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	617						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TAGGTGTCCTCTTCAAAATGT	0.343000													3	18					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762739	53762739	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:53762739G>A	ENST00000341702.3	+	1	1195	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	371					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CATGTGCCGTGACCCCAGCAG	0.433000													29	87					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195711447	195711447	+	RNA	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:195711447G>C	ENST00000427841.1	-	0	500					NR_003264.2																						AGAGCACCCAGAGCCTCCCGC	0.577000													4	28					0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117878845	117878845	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:117878845C>G	ENST00000297338.2	-	2	411	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	42					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATGATACTCTCCACGCTGCTC	0.383000													22	48					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74617175	74617175	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:74617175G>T	ENST00000253159.8	+	13	2293	c.2095G>T	c.(2095-2097)Gtg>Ttg	p.V699L	ZNF236_ENST00000320610.9_Missense_Mutation_p.V701L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	699					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TTCTGCAGGCGTGCTCAAAGC	0.398000													16	28					6.49762e-13	7.02713e-13	1	1	0
SYNE4	163183	broad.mit.edu	37	19	36494240	36494240	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:36494240C>T	ENST00000324444.3	-	8	1325	c.1214G>A	c.(1213-1215)tGa>tAa	p.*405*	SYNE4_ENST00000340477.5_Silent_p.*292*	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		TTACACACATCAGACTGGGGG	0.532000													5	14					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122091442	122091442	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:122091442C>A	ENST00000334010.7	-	14	2698	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H	CADPS2_ENST00000313070.7_Missense_Mutation_p.Q755H|CADPS2_ENST00000412584.2_Missense_Mutation_p.Q755H|CADPS2_ENST00000449022.2_Missense_Mutation_p.Q758H	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	758	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATGGCTTATCTGATTTTCTA	0.294000													11	32					4.68919e-08	4.93233e-08	1	1	0
FGF10	2255	broad.mit.edu	37	5	44310556	44310556	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:44310556C>T	ENST00000264664.4	-	2	516	c.402G>A	c.(400-402)atG>atA	p.M134I		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	134				M -> R (in Ref. 3; AAL05875).	actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CCTTCTTGTTCATGGCTAAGT	0.383000													14	41					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202911169	202911169	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:202911169C>A	ENST00000340990.5	-	7	1281	c.983G>T	c.(982-984)gGa>gTa	p.G328V	ADIPOR1_ENST00000436244.1_Missense_Mutation_p.G328V	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	328					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GTCAAATTTTCCAGGAAAGAA	0.488000													6	65					0.00116845	0.00118853	1	1	0
CUX1	1523	broad.mit.edu	37	7	101844978	101844978	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:101844978G>A	ENST00000360264.3	+	18	2454	c.2434G>A	c.(2434-2436)Gat>Aat	p.D812N	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.D643N|CUX1_ENST00000550008.2_Missense_Mutation_p.D745N|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.D699N|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.D779N|CUX1_ENST00000292535.7_Missense_Mutation_p.D801N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	801					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGAGCAGCCGATTGTGCACA	0.672000													9	40					0	0	1	0	0
ATP6V1D	51382	broad.mit.edu	37	14	67805358	67805358	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:67805358C>A	ENST00000216442.7	-	9	1274	c.724G>T	c.(724-726)Gag>Tag	p.E242*	ATP6V1D_ENST00000555474.1_Nonsense_Mutation_p.E143*|ATP6V1D_ENST00000555431.1_Nonsense_Mutation_p.E187*|ATP6V1D_ENST00000554236.1_3'UTR	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	242					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	p.E242K(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		AGAAGATCCTCGTCCTTCTCT	0.418000													18	144					2.48551e-13	2.6901e-13	1	1	0
PSD	5662	broad.mit.edu	37	10	104163063	104163063	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:104163063G>A	ENST00000020673.5	-	17	3495	c.2969C>T	c.(2968-2970)tCt>tTt	p.S990F	PSD_ENST00000406432.1_Missense_Mutation_p.S990F	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	990					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ACTGGAGTGAGAAGGAGGGAG	0.682000													6	22					0	0	1	0	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078070	46078070	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:46078070G>A	ENST00000397907.1	+	1	222	c.174G>A	c.(172-174)gtG>gtA	p.V58V	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	58	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCGTGCCCGTGAGCTGCAGGC	0.647000													30	96					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458487	12458487	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:12458487C>T	ENST00000397026.2	+	8	1421	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	PPARG_ENST00000287820.6_Silent_p.L368L|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Silent_p.L340L|PPARG_ENST00000397015.2_Silent_p.L340L|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000309576.6_Silent_p.L340L|PPARG_ENST00000397010.2_Silent_p.L340L			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	368	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGGGGTTCTCATATCCGAGG	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						20	32					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10505978	10505978	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:10505978C>T	ENST00000222005.2	-	4	582	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	177					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TGGACGTTGTCTGACAGGTAC	0.592000													28	165					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16086130	16086130	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:16086130G>A	ENST00000281043.3	+	3	1603	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	436	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCTCCAGGCCGAGGAGCACCA	0.512000			A		neuroblastoma								52	134					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328195	88328195	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:88328195C>G	ENST00000325089.6	+	2	771	c.552C>G	c.(550-552)ctC>ctG	p.L184L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	184						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTTATCCTCAATGACAATC	0.478000													11	128					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	435838	435838	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:435838C>G	ENST00000338977.5	-	2	2430	c.2382G>C	c.(2380-2382)gaG>gaC	p.E794D	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E806D					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TAAAGGGTTTCTCACCTGTAT	0.373000													11	68					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40512951	40512951	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:40512951C>A	ENST00000287598.6	+	23	3339	c.3144C>A	c.(3142-3144)ctC>ctA	p.L1048L	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Silent_p.L1062L|PAK6_ENST00000453867.1_Intron	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	1048	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GGGCTTTGCTCTTTCAGTGAG	0.423000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	61					0.000274275	0.000279792	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27822625	27822625	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:27822625C>G	ENST00000261716.3	+	11	1398	c.879C>G	c.(877-879)ctC>ctG	p.L293L	TAOK1_ENST00000536202.1_Silent_p.L293L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	293					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TAATAGATCTCATTCAGAGGA	0.418000													18	89					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148011702	148011702	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:148011702C>A	ENST00000369219.1	-	13	1559	c.1543G>T	c.(1543-1545)Gat>Tat	p.D515Y				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	515	NBPF 6.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGGTTTTGAtcttcttcccct	0.428000													37	321					2.87052e-16	3.13308e-16	1	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798946	119798946	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:119798946G>C	ENST00000355624.3	-	3	1241	c.802C>G	c.(802-804)Ctc>Gtc	p.L268V	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L268V|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	268					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGAGATTTGAGACTTCCTACA	0.363000													17	46					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2159570	2159570	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:2159570G>C	ENST00000262304.4	-	15	5806	c.5598C>G	c.(5596-5598)ctC>ctG	p.L1866L	PKD1_ENST00000423118.1_Silent_p.L1866L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1866	PKD 14.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGAGGCATTGAGCCGGATGG	0.652000													5	12					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39436315	39436315	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:39436315G>A	ENST00000257408.4	+	2	1408	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	437	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACATGATGAAGAATTTCCTCA	0.383000													39	56					0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089327	137089327	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:137089327G>A	ENST00000314940.4	-	1	712	c.429C>T	c.(427-429)ttC>ttT	p.F143F		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	143	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAAATACACGAAGCCGAATC	0.577000													10	57					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763630	92763630	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:92763630G>T	ENST00000318238.4	-	5	2871	c.1655C>A	c.(1654-1656)tCa>tAa	p.S552*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.S552*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.S552*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	552										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTTTCCACTGAAGAGAGTAA	0.353000													16	39					3.45872e-05	3.57191e-05	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004491	42004491	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:42004491G>A	ENST00000395925.3	-	15	4264	c.4180C>T	c.(4180-4182)Cgc>Tgc	p.R1394C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1394					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATAGCCTGGCGCCTGCTGCCC	0.607000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				15	68					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650678	14650678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:14650678C>T	ENST00000544627.1	+	15	3828	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*	ATF7IP_ENST00000536444.1_Nonsense_Mutation_p.Q1161*|ATF7IP_ENST00000540793.1_Nonsense_Mutation_p.Q1162*|ATF7IP_ENST00000261168.4_Nonsense_Mutation_p.Q1162*			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1162	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						ATCTCTGCCTCAGAAGCCACA	0.562000													10	43					0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194180578	194180578	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:194180578C>G	ENST00000439040.1	-	5	1139	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ATP13A3_ENST00000256031.4_Missense_Mutation_p.E116D			Q9H7F0	AT133_HUMAN	ATPase type 13A3	116					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CAGTGGGATTCTCAATTAAAC	0.343000													10	85					0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16145428	16145428	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:16145428G>A	ENST00000349606.4	+	5	1089	c.585G>A	c.(583-585)gaG>gaA	p.E195E	MYLIP_ENST00000356840.3_Silent_p.E376E			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	376	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TGCTGCAGGAGAAGCTACGCA	0.592000													35	100					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29090070	29090070	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:29090070G>A	ENST00000544772.1	-	14	2184	c.748C>T	c.(748-750)Cca>Tca	p.P250S	CHEK2_ENST00000382580.2_Missense_Mutation_p.P514S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.P471S|CHEK2_ENST00000348295.3_Missense_Mutation_p.P442S|CHEK2_ENST00000382578.1_Missense_Mutation_p.P380S|CHEK2_ENST00000403642.1_Missense_Mutation_p.P380S|CHEK2_ENST00000328354.6_Missense_Mutation_p.P471S|CHEK2_ENST00000402731.1_Missense_Mutation_p.P442S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.P471S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	471	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CGTGCCTTTGGATCCACTACC	0.453000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					16	151					0	0	1	0	0
NUBP1	4682	broad.mit.edu	37	16	10846476	10846476	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:10846476C>G	ENST00000283027.5	+	4	287	c.268C>G	c.(268-270)Cta>Gta	p.L90V	NUBP1_ENST00000433392.2_Missense_Mutation_p.L90V|NUBP1_ENST00000571790.1_3'UTR	NM_002484.2	NP_002475.2	P53384	NUBP1_HUMAN	nucleotide binding protein 1	90					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						GATTGCTCTTCTAGACATCGA	0.453000													36	143					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182823204	182823204	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:182823204C>T	ENST00000367549.3	+	6	627	c.517C>T	c.(517-519)Cat>Tat	p.H173Y		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	173	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TGCTGGGCTTCATGGAAACTG	0.368000													20	82					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150956770	150956770	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:150956770C>G	ENST00000368947.4	+	6	757	c.281C>G	c.(280-282)tCt>tGt	p.S94C	ANXA9_ENST00000474997.1_3'UTR	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	94					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGATGAAGTCTCTACAGGCA	0.567000													20	162					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197070325	197070325	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:197070325G>C	ENST00000367409.4	-	18	8312	c.8056C>G	c.(8056-8058)Caa>Gaa	p.Q2686E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2686	IQ 29.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCATATTTTGAATATCCTTT	0.368000													15	47					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45818823	45818823	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:45818823G>C	ENST00000221476.3	-	4	555	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	127	Phosphagen kinase C-terminal.		L -> V (in dbSNP:rs17875653).		creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CGCGGCTGCTGAGCACGTAGT	0.672000													5	31					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230426	21230426	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:21230426C>G	ENST00000233242.1	-	26	9441	c.9314G>C	c.(9313-9315)gGa>gCa	p.G3105A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3105					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)	CTCGTTGTTTCCAGCAGAGAA	0.398000													29	96					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508355	48508355	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:48508355G>C	ENST00000296443.9	+	3	1188	c.301G>C	c.(301-303)Gat>Cat	p.D101H	TREX1_ENST00000444177.1_Missense_Mutation_p.D91H|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.D101H|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000422277.2_Missense_Mutation_p.D156H			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	156					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TCAATGTTTTGATGACAACCT	0.637000													26	43					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110613	17110613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:17110613C>A	ENST00000377833.4	-	20	2847	c.2782G>T	c.(2782-2784)Gag>Tag	p.E928*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	928	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAAATCCTCAGCACTGAAC	0.333000													35	91					2.42023e-17	2.64975e-17	1	1	0
RGL3	57139	broad.mit.edu	37	19	11512905	11512905	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:11512905C>G	ENST00000380456.3	-	12	1411	c.1348G>C	c.(1348-1350)Gag>Cag	p.E450Q	RGL3_ENST00000393423.3_Missense_Mutation_p.E450Q	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	450	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CTCCTCTTCTCAAAGTTAATG	0.602000													32	73					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155311786	155311786	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:155311786C>T	ENST00000460012.1	-	4	681	c.324G>A	c.(322-324)ctG>ctA	p.L108L	PLCH1_ENST00000494598.1_Silent_p.L126L|PLCH1_ENST00000334686.6_Silent_p.L108L|PLCH1_ENST00000414191.1_Silent_p.L108L|PLCH1_ENST00000447496.2_Silent_p.L126L|PLCH1_ENST00000340059.7_Silent_p.L126L			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	126	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCCAGCCATCAGGTACTTGA	0.532000													5	49					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48174661	48174661	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:48174661G>T	ENST00000311303.3	-	4	939	c.594C>A	c.(592-594)ctC>ctA	p.L198L	ABCC12_ENST00000416054.1_Silent_p.L198L|ABCC12_ENST00000448542.1_Silent_p.L198L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	198	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCAAGGTGGAGAGCGCCACCT	0.507000													37	119					3.76114e-14	4.08944e-14	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78933923	78933923	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:78933923G>A	ENST00000306801.3	+	30	3885	c.3523G>A	c.(3523-3525)Gat>Aat	p.D1175N	RPTOR_ENST00000544334.2_Missense_Mutation_p.D1017N|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1175					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTGTCCTGTGATTCCCACCG	0.622000													12	72					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979601	979601	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:979601C>T	ENST00000379370.2	+	11	2162	c.2112C>T	c.(2110-2112)gtC>gtT	p.V704V		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	704	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCGTGTGTCTGTGACTTCA	0.706000													27	58					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185094133	185094133	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:185094133C>G	ENST00000367506.5	-	12	1970	c.1702G>C	c.(1702-1704)Gag>Cag	p.E568Q	TRMT1L_ENST00000367504.3_3'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	568						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGTACACTCTGATTCAAAG	0.373000													16	57					0	0	1	0	0
NETO2	81831	broad.mit.edu	37	16	47162410	47162410	+	Missense_Mutation	SNP	C	C	G	rs80041129		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:47162410C>G	ENST00000562435.1	-	4	691	c.307G>C	c.(307-309)Gat>Cat	p.D103H	NETO2_ENST00000303155.5_Missense_Mutation_p.D103H	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	103	CUB 1.					integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCCAAGTGATCAAACCGACAC	0.393000										HNSCC(25;0.065)			52	162					0	0	1	0	0
DLD	1738	broad.mit.edu	37	7	107555978	107555978	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:107555978G>C	ENST00000205402.5	+	9	993	c.712G>C	c.(712-714)Gat>Cat	p.D238H	DLD_ENST00000437604.2_Missense_Mutation_p.D190H|DLD_ENST00000440410.1_Missense_Mutation_p.D215H|DLD_ENST00000537148.1_Missense_Mutation_p.D139H	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	238					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	ACTTGGTGCAGATGTGACAGC	0.328000													17	51					0	0	1	0	0
CCDC178	374864	broad.mit.edu	37	18	30969531	30969531	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:30969531G>A	ENST00000383096.3	-	5	363	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	CCDC178_ENST00000402325.1_Missense_Mutation_p.H61Y|CCDC178_ENST00000300227.8_Missense_Mutation_p.H61Y|CCDC178_ENST00000406524.2_Missense_Mutation_p.H61Y|CCDC178_ENST00000583930.1_Missense_Mutation_p.H61Y|CCDC178_ENST00000579916.1_Missense_Mutation_p.H61Y|CCDC178_ENST00000579947.1_Missense_Mutation_p.H61Y|CCDC178_ENST00000403303.1_Missense_Mutation_p.H61Y					coiled-coil domain containing 178																		TTACTTTCATGAAAACCTTCA	0.289000													11	33					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:7083365C>T	ENST00000414706.1	+	8	1376	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ZNF557_ENST00000439035.2_Silent_p.F294F|ZNF557_ENST00000252840.6_Silent_p.F301F	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483000													12	93					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47918525	47918525	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:47918525C>T	ENST00000318711.7	+	5	617	c.434C>T	c.(433-435)tCt>tTt	p.S145F	DIP2A_ENST00000435722.3_Missense_Mutation_p.S145F|DIP2A_ENST00000466639.1_Missense_Mutation_p.S145F|DIP2A_ENST00000457905.3_Missense_Mutation_p.S145F|DIP2A_ENST00000417564.2_Missense_Mutation_p.S145F|DIP2A_ENST00000427143.2_Missense_Mutation_p.S81F|DIP2A_ENST00000400274.1_Missense_Mutation_p.S145F	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	145					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATGAGGGCTCTTTACGGCGA	0.587000													19	137					0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112303982	112303982	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:112303982C>G	ENST00000550735.2	+	3	889	c.133C>G	c.(133-135)Caa>Gaa	p.Q45E	MAPKAPK5_ENST00000546394.1_3'UTR|MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.Q45E	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	45	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						GAAATCTACTCAAGAACGGTT	0.318000													5	17					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262405	39262405	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:39262405G>T	ENST00000280481.7	+	1	1140	c.924G>T	c.(922-924)agG>agT	p.R308S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	308					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCTGGTGAGGATCCGAGGAG	0.597000													26	46					4.26978e-12	4.59324e-12	1	1	0
MOCOS	55034	broad.mit.edu	37	18	33800131	33800131	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:33800131C>G	ENST00000261326.5	+	9	1932	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	637					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	TCTGCCTGATCCAGCCCTTCA	0.507000													19	41					0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912944	145912944	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:145912944C>T	ENST00000354952.2	-	8	1152	c.912G>A	c.(910-912)atG>atA	p.M304I	PLSCR4_ENST00000493382.1_Missense_Mutation_p.M304I|PLSCR4_ENST00000446574.2_Missense_Mutation_p.M304I|PLSCR4_ENST00000383083.2_Missense_Mutation_p.M214I|PLSCR4_ENST00000433593.2_Missense_Mutation_p.M199I	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	304					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TCATGGCTTTCATCTTCACAT	0.413000													22	29					0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4891708	4891708	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:4891708C>T	ENST00000396829.2	-	9	1269	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	INCA1_ENST00000355025.3_Missense_Mutation_p.E220K|INCA1_ENST00000575780.1_Missense_Mutation_p.E220K|RP5-1050D4.5_ENST00000574260.1_RNA|INCA1_ENST00000574617.1_Missense_Mutation_p.E235K|INCA1_ENST00000576820.1_Missense_Mutation_p.E235K	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	235						nucleus				upper_aerodigestive_tract(1)	1						CCTTACTCTTCAGACGCTGCC	0.577000													18	18					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273239	26273239	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:26273239G>C	ENST00000377733.2	+	1	96	c.36G>C	c.(34-36)aaG>aaC	p.K12N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	12					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CCGCCCCGAAGAAGGGCTCCA	0.567000													25	162					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136520	104136520	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:104136520G>C	ENST00000369983.3	+	32	4508	c.4248G>C	c.(4246-4248)aaG>aaC	p.K1416N		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1416					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCTGCGTCAAGACTCTCCGGA	0.547000													13	30					0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241802	109241802	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:109241802G>A	ENST00000370021.1	+	7	1105	c.468G>A	c.(466-468)ctG>ctA	p.L156L	PRPF38B_ENST00000370025.4_Silent_p.L267L			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	267					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGAGATCTCTGAGTCCACGGA	0.418000													8	87					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	188925322	188925322	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:188925322C>G	ENST00000345063.3	+	2	316	c.149C>G	c.(148-150)tCa>tGa	p.S50*	TPRG1_ENST00000433971.1_Nonsense_Mutation_p.S50*	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	50										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GTGACCGAATCAACTCTTTAC	0.428000													26	98					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35320254	35320254	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:35320254C>T	ENST00000374748.1	-	15	1673	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	CUL2_ENST00000374746.1_Missense_Mutation_p.E454K|CUL2_ENST00000537177.1_Missense_Mutation_p.E473K|CUL2_ENST00000602371.1_Missense_Mutation_p.E397K|CUL2_ENST00000374751.3_Missense_Mutation_p.E454K|CUL2_ENST00000374742.1_Missense_Mutation_p.E454K|CUL2_ENST00000374749.3_Missense_Mutation_p.E454K			Q13617	CUL2_HUMAN	cullin 2	454					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATGGCTTCTTCAGAGTCCATA	0.318000													12	51					0	0	1	0	0
THAP5	168451	broad.mit.edu	37	7	108204815	108204815	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:108204815C>T	ENST00000415914.3	-	3	1161	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	THAP5_ENST00000313516.5_Silent_p.Q294Q	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	336					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						TAGAGACTTTCTGCCAAAGAT	0.353000													25	72					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408771	82408771	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:82408771C>G	ENST00000370728.1	+	8	1161	c.516C>G	c.(514-516)ttC>ttG	p.F172L	LPHN2_ENST00000370730.1_Missense_Mutation_p.F172L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.F172L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F176L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F172L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F172L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F172L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F172L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F172L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F172L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F172L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F172L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F172L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F172L			O95490	LPHN2_HUMAN	latrophilin 2	172	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAATTTATTTCATGCCCTGGA	0.398000													19	80					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449060	104449060	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:104449060G>A	ENST00000361820.3	-	2	1722	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	374					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATGAGCAATGAGCCCTAAGG	0.522000													17	27					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1816246	1816246	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:1816246G>C	ENST00000170168.4	-	15	3649	c.3555C>G	c.(3553-3555)ctC>ctG	p.L1185L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1185	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGATCTGTCTGAGGTAGTCGG	0.672000													4	8					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34004078	34004078	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:34004078C>G	ENST00000382491.3	-	28	3932	c.3808G>C	c.(3808-3810)Gaa>Caa	p.E1270Q	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E1356Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.E1317Q	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1317	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AATGGTGATTCTCTTTTGCCA	0.388000													5	41					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576537	49576537	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:49576537G>A	ENST00000244051.1	+	1	1175	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	386	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGGAGAGCCTGAAACTCTTAA	0.507000													68	162					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820776	24820776	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:24820776G>A	ENST00000376451.2	+	10	2409	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	KIAA1217_ENST00000458595.1_Missense_Mutation_p.E999K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E998K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E717K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E717K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E954K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1034K|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E717K			Q5T5P2	SKT_HUMAN	KIAA1217	1034					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAATTCGGAACAGGACTT	0.493000													6	18					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389534	129389534	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:129389534C>T	ENST00000393238.3	-	4	1490	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	TMCC1_ENST00000426664.2_Missense_Mutation_p.D270N|TMCC1_ENST00000329333.5_Missense_Mutation_p.D205N|TMCC1_ENST00000432054.2_Missense_Mutation_p.D60N	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	384						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGTTGTCTGCACTGCCA	0.502000													19	56					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964125	94964125	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:94964125G>C	ENST00000341228.2	-	3	1405	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.L204V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	204					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TAATTTGCAAGAAGCATCACA	0.418000													18	65					0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70218483	70218483	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:70218483G>C	ENST00000253925.7	+	22	3243	c.3028G>C	c.(3028-3030)Gac>Cac	p.D1010H	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.D1010H|PPFIA1_ENST00000530548.1_3'UTR	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1010	SAM 2.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GAAAATGGTCGACAGTTTTCA	0.438000													15	32					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580799	37580799	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:37580799C>G	ENST00000217429.4	+	4	1525	c.1484C>G	c.(1483-1485)tCa>tGa	p.S495*		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	465	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TCACCAGTCTCAAAAATGTCT	0.483000													8	73					0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186231881	186231881	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:186231881G>A	ENST00000504273.1	+	7	1057	c.763G>A	c.(763-765)Gag>Aag	p.E255K	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E255K			Q9H3E2	SNX25_HUMAN	sorting nexin 25	255					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.E255Q(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAAGCAGTGTGAGAAGAGAAT	0.512000													4	24					0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128051122	128051122	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:128051122C>T	ENST00000493187.2	-	2	472	c.9G>A	c.(7-9)ctG>ctA	p.L3L	ERCC3_ENST00000285398.2_Silent_p.L67L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	67					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGTCGTCCTTCAGCGGCATTT	0.612000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	31					0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30697837	30697837	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:30697837C>G	ENST00000376389.3	-	12	1436	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	FLOT1_ENST00000456573.2_Missense_Mutation_p.E358Q	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	406						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCCACACTCTCTGGCAGGCGA	0.542000													8	55					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286316	57286316	+	Missense_Mutation	SNP	G	G	A	rs141652030		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:57286316G>A	ENST00000391708.3	-	12	1866	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	ZIM2_ENST00000599935.1_Missense_Mutation_p.P442S|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.P442S|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.P442S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P442S	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		GACAACCCAGGAGGAAGGACT	0.478000													13	38					0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226030171	226030171	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:226030171G>C	ENST00000366837.4	+	7	1232	c.1036G>C	c.(1036-1038)Gaa>Caa	p.E346Q	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Missense_Mutation_p.E346Q	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	346					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TGGAGGCCTGGAAAGGTGAGG	0.562000													8	18					0	0	1	0	0
ZFAS1	441951	broad.mit.edu	37	20	47895492	47895492	+	RNA	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:47895492G>A	ENST00000450535.1	+	0	539				ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000428008.1_RNA|SNORD12C_ENST00000386307.1_RNA																							TGTAAATGATGACTTCACTTT	0.493000													9	61					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38242660	38242660	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:38242660C>G	ENST00000302609.7	-	5	477	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				TATCTTGCTTCTAGATCATGA	0.333000													3	47					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189608650	189608650	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:189608650G>C	ENST00000264731.3	+	13	1814	c.1725G>C	c.(1723-1725)caG>caC	p.Q575H	TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Missense_Mutation_p.Q481H|TP63_ENST00000392461.3_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.Q477H|TP63_ENST00000382063.4_Missense_Mutation_p.Q490H|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Missense_Mutation_p.Q396H|TP63_ENST00000320472.5_Intron|TP63_ENST00000440651.2_Missense_Mutation_p.Q571H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	575	SAM.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCTATCAGATTGAGCATT	0.443000										HNSCC(45;0.13)			23	71					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175958595	175958595	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:175958595C>G	ENST00000367669.3	-	16	2264	c.1750G>C	c.(1750-1752)Gat>Cat	p.D584H	RFWD2_ENST00000308769.8_Missense_Mutation_p.D560H	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	584					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTACGAAGATCATAGTAGTGG	0.348000													12	65					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286665	71286665	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:71286665C>T	ENST00000283228.2	-	2	603	c.151G>A	c.(151-153)Gag>Aag	p.E51K		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	51					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AGGCTCTTCTCAATGTCTTGT	0.408000													10	153					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32684519	32684519	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:32684519G>A	ENST00000374980.2	-	6	848	c.627C>T	c.(625-627)gtC>gtT	p.V209V		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	209						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTACTCGGACGACTTGTGGAG	0.393000													23	96					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512618	248512618	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:248512618C>G	ENST00000317861.1	+	1	542	c.542C>G	c.(541-543)tCt>tGt	p.S181C		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GACATCCCCTCTCTGCTGAAG	0.507000													20	64					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287797	42287797	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:42287797C>G	ENST00000302904.4	-	14	1896	c.1404G>C	c.(1402-1404)gaG>gaC	p.E468D	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.E431D|UBTF_ENST00000527034.1_Missense_Mutation_p.E431D|UBTF_ENST00000436088.1_Missense_Mutation_p.E468D|UBTF_ENST00000529383.1_Missense_Mutation_p.E468D|UBTF_ENST00000533177.1_Missense_Mutation_p.E431D|UBTF_ENST00000343638.5_Missense_Mutation_p.E431D|UBTF_ENST00000393606.3_Missense_Mutation_p.E431D			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	468					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGGGCTTCCTCTCCGACTGAG	0.697000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	47					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71571612	71571612	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:71571612C>T	ENST00000373573.3	-	10	1423	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.R166Q|HDAC8_ENST00000373589.4_Missense_Mutation_p.R270Q	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	361					chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTGTTGGATTCGGTGGGGCTC	0.547000													5	19					0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112732249	112732249	+	Splice_Site	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:112732249C>T	ENST00000314400.5	-	4	534	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	115						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTGATTTTCACTTGAAAAA	0.338000													17	57					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100245153	100245153	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:100245153G>C	ENST00000355295.4	+	15	2730	c.2435G>C	c.(2434-2436)aGa>aCa	p.R812T	TDRD7_ENST00000422139.2_Missense_Mutation_p.R738T|TDRD7_ENST00000540902.1_Missense_Mutation_p.R132T|TDRD7_ENST00000492428.1_3'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	812					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GATGAAACCAGAGGGATCGCA	0.363000													35	45					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27185991	27185991	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:27185991C>G	ENST00000254928.5	+	8	1067	c.970C>G	c.(970-972)Ctg>Gtg	p.L324V		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	324					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GCAATACCTTCTGACACAGGC	0.522000													27	85					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9013761	9013761	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:9013761C>T	ENST00000299698.7	+	28	3550	c.3370C>T	c.(3370-3372)Ctc>Ttc	p.L1124F	A2ML1_ENST00000539547.1_Missense_Mutation_p.L633F	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	968						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTACGGTGTCTCAAGAATTC	0.448000													35	100					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452313	43452313	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:43452313C>T	ENST00000282388.3	-	2	923	c.630G>A	c.(628-630)ccG>ccA	p.P210P	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	210	RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AGTGGCAGCGCGGCCCATAGG	0.687000													8	21					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62995052	62995052	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:62995052G>A	ENST00000561311.1	+	18	2223	c.1993G>A	c.(1993-1995)Gag>Aag	p.E665K	TLN2_ENST00000306829.6_Missense_Mutation_p.E665K			Q9Y4G6	TLN2_HUMAN	talin 2	665					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAGACTGATGAGCGATTCCA	0.453000													25	34					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7774715	7774715	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:7774715C>A	ENST00000420658.1	-	16	2357	c.2085G>T	c.(2083-2085)ctG>ctT	p.L695L	AFAP1_ENST00000358461.2_Silent_p.L611L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Silent_p.L611L|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000382543.3_Silent_p.L695L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	632						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTTCTCCTCCAGGATCGCCT	0.617000													4	18					0.00024832	0.000253497	1	1	0
LHX4	89884	broad.mit.edu	37	1	180243331	180243331	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:180243331C>T	ENST00000263726.2	+	6	1034	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGATCAAATTCTCTCAGAACT	0.502000													19	74					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818244	55818244	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:55818244G>C	ENST00000313833.4	+	2	1381	c.1136G>C	c.(1135-1137)gGa>gCa	p.G379A	FBXO34_ENST00000440021.1_Missense_Mutation_p.G379A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	379										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCAGCAGGAGTGAGTTTC	0.517000													18	66					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124710775	124710775	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:124710775C>T	ENST00000262219.6	-	5	401	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ANXA13_ENST00000419625.1_Missense_Mutation_p.E71K	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	71				V -> F (in Ref. 1; CAA77578).	cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CCACTCAGCTCACTCTTGAGT	0.587000													18	56					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088489	92088489	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:92088489G>C	ENST00000298047.6	+	1	3228	c.3211G>C	c.(3211-3213)Gac>Cac	p.D1071H	FAT3_ENST00000541502.1_Missense_Mutation_p.D1071H|FAT3_ENST00000525166.1_Missense_Mutation_p.D921H|FAT3_ENST00000409404.2_Missense_Mutation_p.D1071H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1071	Cadherin 10.				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)				TCGAGATGAAGACTCCGGAAG	0.488000										TCGA Ovarian(4;0.039)			8	28					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41256936	41256936	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:41256936C>T	ENST00000357654.3	-	5	368	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000351666.3_Missense_Mutation_p.E84K|BRCA1_ENST00000471181.2_Missense_Mutation_p.E84K|BRCA1_ENST00000468300.1_Missense_Mutation_p.E84K|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.E84K|BRCA1_ENST00000352993.3_Missense_Mutation_p.E84K|BRCA1_ENST00000346315.3_Missense_Mutation_p.E84K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.E37K|BRCA1_ENST00000354071.3_Missense_Mutation_p.E84K	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	84					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)		AATAGCTCTTCAACAAGTTGA	0.363000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			17	63					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909176	153909176	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:153909176C>T	ENST00000361217.4	-	16	2699	c.2281G>A	c.(2281-2283)Gag>Aag	p.E761K		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	761										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCCCACAGCTCAGGCACAGCT	0.597000													7	15					0	0	1	0	0
KRT222	125113	broad.mit.edu	37	17	38812788	38812788	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:38812788C>G	ENST00000476049.1	-	6	795	c.754G>C	c.(754-756)Gat>Cat	p.D252H	KRT222_ENST00000394052.3_Missense_Mutation_p.D252H			Q8N1A0	KT222_HUMAN	keratin 222	252						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AAATGAAGATCAAATCGAAGA	0.373000													31	78					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59926581	59926581	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:59926581G>C	ENST00000259008.2	-	5	683	c.416C>G	c.(415-417)tCt>tGt	p.S139C	BRIP1_ENST00000577598.1_Missense_Mutation_p.S139C	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	139	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTTCTTAGCAGATAACTTTGC	0.338000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					18	90					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45654484	45654484	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:45654484C>T	ENST00000267430.5	+	18	4665	c.4580C>T	c.(4579-4581)tCa>tTa	p.S1527L	FANCM_ENST00000555013.1_3'UTR|FANCM_ENST00000542564.2_Missense_Mutation_p.S1501L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1527					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAATATGTTTCATCAGATGAA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	22					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54725702	54725702	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:54725702G>A	ENST00000391750.1	-	5	792	c.656C>T	c.(655-657)tCa>tTa	p.S219L	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.S219L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S219L|LILRB3_ENST00000245620.9_Missense_Mutation_p.S219L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S219L|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	219	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCCTCACCTGAGGGCAGAAT	0.567000													8	64					0	0	1	0	0
FOXD3	27022	broad.mit.edu	37	1	63789287	63789287	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:63789287G>A	ENST00000371116.2	+	1	558	c.558G>A	c.(556-558)caG>caA	p.Q186Q	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	186					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCGCCTGGCAGAACAGCATCC	0.627000													34	133					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37581054	37581054	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:37581054C>T	ENST00000217429.4	+	4	1780	c.1739C>T	c.(1738-1740)tCa>tTa	p.S580L		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	550					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GCTATGCTGTCAAGGAGAACA	0.453000													10	93					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68248323	68248323	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:68248323G>T	ENST00000329524.4	+	10	3222	c.3198G>T	c.(3196-3198)tgG>tgT	p.W1066C	NFATC3_ENST00000575270.1_Intron|NFATC3_ENST00000346183.3_Intron|NFATC3_ENST00000349223.5_Intron|NFATC3_ENST00000535127.2_3'UTR|RP11-96D1.5_ENST00000569088.1_RNA	NM_004555.3	NP_004546.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	0					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CTCCTTTCTGGAGAATCTAGA	0.458000													17	32					1.33834e-09	1.42248e-09	1	1	0
TNPO3	23534	broad.mit.edu	37	7	128612603	128612603	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:128612603C>G	ENST00000393245.1	-	19	2782	c.2409G>C	c.(2407-2409)cgG>cgC	p.R803R	TNPO3_ENST00000471166.1_Silent_p.R803R|TNPO3_ENST00000482320.1_Silent_p.R703R|TNPO3_ENST00000265388.5_Silent_p.R769R|TNPO3_ENST00000471234.1_Silent_p.R705R	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	769					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCACTTGGCTCCGCAGCAAGG	0.493000													13	39					0	0	1	0	0
MLF1	4291	broad.mit.edu	37	3	158289107	158289107	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:158289107C>T	ENST00000355893.5	+	1	156	c.18C>T	c.(16-18)aaC>aaT	p.N6N	MLF1_ENST00000478894.2_5'UTR|MLF1_ENST00000392822.3_5'UTR|MLF1_ENST00000471745.1_5'UTR|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000482628.1_5'UTR|MLF1_ENST00000469452.1_5'UTR|MLF1_ENST00000484955.1_5'UTR|MLF1_ENST00000359117.5_5'UTR	NM_022443.4	NP_071888.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	6					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GGATGCTGAACAGCAGTTTTG	0.562000			T	NPM1	AML								12	33					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67102322	67102322	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:67102322G>A	ENST00000284425.2	-	19	2594	c.2420C>T	c.(2419-2421)tCa>tTa	p.S807L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	807					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGCTTTCTGAGTCTCTTAT	0.418000													15	46					0	0	1	0	0
RTFDC1	51507	broad.mit.edu	37	20	55092031	55092031	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:55092031C>A	ENST00000023939.4	+	7	739	c.632C>A	c.(631-633)cCa>cAa	p.P211Q	RTFDC1_ENST00000357348.5_Missense_Mutation_p.P241Q|GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000395881.3_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2			replication termination factor 2 domain containing 1																		GTTTCAAAACCAGATGTCAGT	0.408000													26	100					7.41945e-09	7.85069e-09	1	1	0
ERCC3	2071	broad.mit.edu	37	2	128051265	128051265	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:128051265C>T	ENST00000285398.2	-	2	152	c.58G>A	c.(58-60)Gag>Aag	p.E20K	ERCC3_ENST00000493187.2_5'UTR	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	20	Asp/Glu-rich (acidic).				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTTCATCCTCATAGTGCCGC	0.582000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				20	76					0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139741076	139741076	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:139741076C>T	ENST00000436881.1	+	1	2210	c.2210C>T	c.(2209-2211)tCg>tTg	p.S737L		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	737										endometrium(2)|large_intestine(1)|lung(6)	9						CGCGCTTTCTCGCGCATCGCG	0.706000													20	18					0	0	1	0	0
CANX	821	broad.mit.edu	37	5	179147464	179147464	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:179147464C>T	ENST00000247461.4	+	10	1285	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	CANX_ENST00000452673.2_Missense_Mutation_p.S362L|CANX_ENST00000512607.2_Missense_Mutation_p.S254L|CANX_ENST00000415618.2_Missense_Mutation_p.S397L|CANX_ENST00000504734.1_Missense_Mutation_p.S362L	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	362	4 X approximate repeats.|P domain (Extended arm) (By similarity).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGATGTGAGTCAGCTCCTGGA	0.468000													28	62					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23909107	23909107	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:23909107G>C	ENST00000382298.3	-	10	9496	c.8908C>G	c.(8908-8910)Cta>Gta	p.L2970V	SACS_ENST00000402364.1_Missense_Mutation_p.L2220V|SACS_ENST00000382292.3_Missense_Mutation_p.L2970V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2970					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGGCTGTAGATCAAGACGG	0.373000													58	69					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17727817	17727817	+	RNA	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:17727817C>A	ENST00000434762.2	+	0	2019							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTGGGCTTCAAGTGCACCT	0.552000													17	30					2.35188e-11	2.52051e-11	1	1	0
LGALS9	3965	broad.mit.edu	37	17	25967659	25967659	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:25967659C>T	ENST00000395473.2	+	3	1661	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	LGALS9_ENST00000313648.6_Missense_Mutation_p.R65W|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.R65W|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000302228.5_Missense_Mutation_p.R65W|LGALS9_ENST00000448970.2_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	65	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CTTCAACCCTCGGTTTGAAGA	0.537000													35	177					0	0	1	0	0
COQ10B	80219	broad.mit.edu	37	2	198334798	198334798	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:198334798C>G	ENST00000263960.2	+	4	590	c.452C>G	c.(451-453)tCt>tGt	p.S151C	COQ10B_ENST00000545340.1_Missense_Mutation_p.S108C|COQ10B_ENST00000409398.1_Missense_Mutation_p.S101C|COQ10B_ENST00000409010.1_Missense_Mutation_p.S123C	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	151						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTAGGCATCTTGTACTGAT	0.368000													14	65					0	0	1	0	0
TMED7	51014	broad.mit.edu	37	5	114952054	114952054	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:114952054C>T	ENST00000456936.3	-	3	907	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	TICAM2_ENST00000408996.4_Missense_Mutation_p.R176Q|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.R176Q|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.R176Q|TMED7_ENST00000503010.1_5'UTR|AC010226.4_ENST00000515570.1_RNA|AC010226.4_ENST00000508517.1_RNA	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		TGCTCGGCTTCGGCCTTGAGC	0.443000													7	19					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32408531	32408531	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:32408531G>C	ENST00000309951.6	+	4	424	c.286G>C	c.(286-288)Gac>Cac	p.D96H	ACO1_ENST00000379923.1_Missense_Mutation_p.D96H|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418000													39	45					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75526879	75526879	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:75526879C>G	ENST00000297785.3	-	10	1249	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	399					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTACCTCCTCTTTGGCAATG	0.443000													29	52					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123095791	123095791	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:123095791G>A	ENST00000264501.4	+	5	650	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E93K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E93K			Q2LD37	K1109_HUMAN	KIAA1109	93					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTACATTACAGAAGACATGTC	0.279000													14	26					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308740	140308740	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140308740C>G	ENST00000253807.2	+	1	2263	c.2263C>G	c.(2263-2265)Ctc>Gtc	p.L755V	PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.L755V|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACTTATCTCTATCGGGC	0.473000													11	81					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41819668	41819668	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:41819668C>T	ENST00000304330.4	-	12	1680	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E522K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	522						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CGGCTTTCTTCTTCAGGGCTT	0.547000													14	39					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007299	6007299	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:6007299C>T	ENST00000399933.3	-	1	488	c.489G>A	c.(487-489)ttG>ttA	p.L163L	KIAA2026_ENST00000381461.2_Silent_p.L163L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	163										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTCCAGCATCAACCTGAAGT	0.602000													16	41					0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54672146	54672146	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:54672146G>A	ENST00000332822.4	+	1	1087	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	188					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					CTCCGTGCCCGAGGGCATGGT	0.687000													7	16					0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57724250	57724250	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:57724250G>C	ENST00000263095.6	+	4	2199	c.1785G>C	c.(1783-1785)ttG>ttC	p.L595F	ZNF264_ENST00000536056.1_Missense_Mutation_p.L595F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		AGGACTTTTTGAATGTAACCA	0.428000													14	64					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111264027	111264027	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:111264027G>C	ENST00000352690.4	+	2	436	c.196G>C	c.(196-198)Gac>Cac	p.D66H	CD96_ENST00000438817.2_Missense_Mutation_p.D66H|CD96_ENST00000283285.5_Missense_Mutation_p.D66H	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	66	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CAATAAGATAGACCTGATTGC	0.478000									Opitz Trigonocephaly syndrome				9	92					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113637885	113637885	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:113637885G>C	ENST00000374431.3	-	5	1294	c.911C>G	c.(910-912)tCt>tGt	p.S304C	LPAR1_ENST00000374430.2_Missense_Mutation_p.S304C|LPAR1_ENST00000358883.4_Missense_Mutation_p.S304C|LPAR1_ENST00000541779.1_Missense_Mutation_p.S305C|LPAR1_ENST00000538760.1_Missense_Mutation_p.S305C	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	304					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTTCATGGCAGAGTTGAATTC	0.527000													21	25					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55362778	55362778	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:55362778C>T	ENST00000290552.7	+	5	2220	c.888C>T	c.(886-888)tgC>tgT	p.C296C	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTGGGCCGTGCGCTGCAGCTC	0.652000													18	54					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209188991	209188991	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:209188991C>G	ENST00000264380.4	+	18	2474	c.2316C>G	c.(2314-2316)gtC>gtG	p.V772V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	772					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTACTTTGGTCATTAATGTAA	0.348000													12	97					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7166374	7166374	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:7166374C>T	ENST00000341500.5	-	8	1691	c.1652G>A	c.(1651-1653)tGt>tAt	p.C551Y	INSR_ENST00000302850.5_Missense_Mutation_p.C551Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	551					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTGGAACCACACGCATCCTG	0.552000													5	27					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718993	42718993	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:42718993G>A	ENST00000230882.4	+	10	1574	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	GHR_ENST00000537449.1_Missense_Mutation_p.E275K|GHR_ENST00000357703.3_Missense_Mutation_p.E440K	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	462					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ACTTCCTACTGAAGGAGCTGA	0.453000													16	38					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563946	46563946	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:46563946C>T	ENST00000458649.2	-	7	2039	c.1621G>A	c.(1621-1623)Gag>Aag	p.E541K	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E541K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E451K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E541K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E451K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E541K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E541K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	541					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCTGGCCTCTCAGATTCAATG	0.572000													6	50					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159162423	159162423	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:159162423C>T	ENST00000368125.4	+	3	442	c.285C>T	c.(283-285)atC>atT	p.I95I	CADM3_ENST00000368124.4_Silent_p.I129I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	95	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGCTCAGCATCAGCATCAGCA	0.532000													23	60					0	0	1	0	0
CFL2	1073	broad.mit.edu	37	14	35182578	35182578	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:35182578C>G	ENST00000341223.3	-	2	344	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	CFL2_ENST00000298159.6_Missense_Mutation_p.E65Q|CFL2_ENST00000556161.1_Missense_Mutation_p.E48Q|CFL2_ENST00000555765.1_Missense_Mutation_p.E48Q	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	65	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TAGGGGTCCTCTACAGTATCA	0.403000													36	71					0	0	1	0	0
NAT6	24142	broad.mit.edu	37	3	50334454	50334454	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:50334454C>A	ENST00000443842.1	-	2	1248	c.441G>T	c.(439-441)ctG>ctT	p.L147L	NAT6_ENST00000443094.2_Silent_p.L147L|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_Silent_p.L147L|NAT6_ENST00000354862.4_Silent_p.L169L					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CACGGCCCCTCAGGGCCCGGG	0.677000													7	18					5.18039e-06	5.39308e-06	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68139687	68139687	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:68139687C>T	ENST00000262215.3	-	26	4127	c.3738G>A	c.(3736-3738)cgG>cgA	p.R1246R	ARFGEF1_ENST00000518230.1_Silent_p.R84R|ARFGEF1_ENST00000520381.1_Silent_p.R700R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1246					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGTACCTGTTCCGTTTCATTA	0.373000													15	47					0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41749980	41749980	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:41749980G>A	ENST00000389629.4	+	4	580	c.568G>A	c.(568-570)Gag>Aag	p.E190K		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	190	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CATGGGAGATGAGGAAGACAG	0.478000													13	116					0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267150	48267150	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:48267150G>A	ENST00000302329.3	+	1	543	c.495G>A	c.(493-495)gtG>gtA	p.V165V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCCCCAATGTGATCAATCACT	0.488000													37	167					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64453209	64453209	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:64453209C>T	ENST00000358025.3	+	19	2417	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.F729F|SYNE2_ENST00000344113.4_Silent_p.F729F	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	729					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)		ATGAAGAATTCACAGGGCAAC	0.363000													13	39					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90163011	90163011	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:90163011C>G	ENST00000268138.7	+	18	3197	c.3092C>G	c.(3091-3093)tCt>tGt	p.S1031C	TICRR_ENST00000560985.1_Missense_Mutation_p.S1030C|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TCCTTCTATTCTGTGTCTCAG	0.463000													15	66					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119026537	119026537	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:119026537C>T	ENST00000298472.5	+	12	1256	c.1113C>T	c.(1111-1113)agC>agT	p.S371S	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	371					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TTGGAGTCAGCATTTTATGTG	0.363000													10	60					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511837	61511837	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:61511837C>T	ENST00000266070.4	-	16	5796	c.5471G>A	c.(5470-5472)aGa>aAa	p.R1824K	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1824K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1824	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAGGGGCCTCTGCTGTCCCC	0.617000													20	79					0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91007889	91007889	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:91007889C>G	ENST00000357056.2	-	21	2527	c.2406G>C	c.(2404-2406)aaG>aaC	p.K802N	TTC7B_ENST00000328459.6_Missense_Mutation_p.K785N|TTC7B_ENST00000554654.1_5'UTR			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	785							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CCCGGAGGATCTTCTCCGCCA	0.637000													6	17					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914508	39914508	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:39914508C>T	ENST00000425673.1	+	17	2973	c.2648C>T	c.(2647-2649)cCg>cTg	p.P883L	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P853L|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P912L|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	912					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	Rho guanyl-nucleotide exchange factor activity	p.P870L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGCAGCCCGGATGGCCAG	0.582000													4	69					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473753	56473753	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:56473753C>T	ENST00000370754.5	-	39	5573	c.5574G>A	c.(5572-5574)ttG>ttA	p.L1858L	DST_ENST00000446842.2_Silent_p.L1354L|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.L1680L|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Silent_p.L1680L|DST_ENST00000370769.4_Silent_p.L1680L			Q03001	DYST_HUMAN	dystonin	1680					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)			TCTGTAGGGTCAACTGTTCTC	0.423000													32	72					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960548	73960548	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:73960548C>G	ENST00000055682.6	-	3	4455	c.3844G>C	c.(3844-3846)Gat>Cat	p.D1282H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGCCCAATCTCCAGAAAGT	0.517000													14	16					0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32669915	32669915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:32669915G>T	ENST00000421922.2	+	4	560	c.460G>T	c.(460-462)Gag>Tag	p.E154*	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Nonsense_Mutation_p.E154*			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	154										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGGGGTCACTGAGGGGCTGCC	0.587000													9	58					0.0581538	0.0584005	1	1	0
MATN2	4147	broad.mit.edu	37	8	99028777	99028777	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:99028777C>G	ENST00000254898.5	+	11	1814	c.1583C>G	c.(1582-1584)tCt>tGt	p.S528C	MATN2_ENST00000521689.1_Missense_Mutation_p.S528C|MATN2_ENST00000524308.1_Missense_Mutation_p.S487C|MATN2_ENST00000520016.1_Missense_Mutation_p.S528C|MATN2_ENST00000522025.2_Missense_Mutation_p.S244C	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	528	EGF-like 8.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GAATTGGACTCTTGTGCTCTG	0.393000													6	8					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	615985	615985	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:615985C>T	ENST00000251287.2	+	8	2234	c.2181C>T	c.(2179-2181)atC>atT	p.I727I	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	727	Pro-rich.				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGGCCATCGCCACGCTGC	0.771000													3	12					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031152	32031152	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:32031152G>C	ENST00000360311.4	+	2	1130	c.581G>C	c.(580-582)aGa>aCa	p.R194T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ACGTCCCAAAGAATTTCTTCT	0.358000													7	55					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178420738	178420738	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:178420738G>A	ENST00000448150.3	+	10	2424	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	RASAL2_ENST00000462775.1_Missense_Mutation_p.E406K|RASAL2_ENST00000367649.3_Missense_Mutation_p.E554K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	406					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGTCCGATGAGAACTGTGA	0.398000													29	87					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154305173	154305173	+	Splice_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:154305173G>A	ENST00000368489.3	+	9	688	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	ATP8B2_ENST00000368487.3_Splice_Site_p.G197S|ATP8B2_ENST00000341822.2_Splice_Site_p.G216S|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	216					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAAGTTTGACGGTGAGTAATT	0.458000													3	4					0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38052002	38052002	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:38052002G>C	ENST00000463876.1	-	6	1258	c.905C>G	c.(904-906)tCg>tGg	p.S302W	PLCD1_ENST00000334661.4_Missense_Mutation_p.S281W	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	281	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GCCGTCAGCCGACAGTAAGTA	0.637000													13	24					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61548631	61548631	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:61548631C>T	ENST00000278836.5	+	21	2690	c.2594C>T	c.(2593-2595)tCg>tTg	p.S865L	MYRF_ENST00000265460.5_Missense_Mutation_p.S830L|MYRF_ENST00000389602.4_Missense_Mutation_p.S256L|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CTCACCAGCTCGGCCCCAGGT	0.597000													27	58					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35320243	35320243	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:35320243C>A	ENST00000374748.1	-	15	1684	c.1371G>T	c.(1369-1371)atG>atT	p.M457I	CUL2_ENST00000374746.1_Missense_Mutation_p.M457I|CUL2_ENST00000537177.1_Missense_Mutation_p.M476I|CUL2_ENST00000602371.1_Missense_Mutation_p.M400I|CUL2_ENST00000374751.3_Missense_Mutation_p.M457I|CUL2_ENST00000374742.1_Missense_Mutation_p.M457I|CUL2_ENST00000374749.3_Missense_Mutation_p.M457I			Q13617	CUL2_HUMAN	cullin 2	457					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.M457I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGTTGATCATGGCTTCTT	0.323000													11	49					0.00136819	0.00139072	1	1	0
PPME1	51400	broad.mit.edu	37	11	73915404	73915404	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:73915404C>T	ENST00000328257.8	+	3	525	c.202C>T	c.(202-204)Cga>Tga	p.R68*	PPME1_ENST00000542710.1_3'UTR|PPME1_ENST00000398427.4_Nonsense_Mutation_p.R68*			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	68					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					ATACACTTTTCGAGTCTACAA	0.388000													4	17					0	0	1	0	0
TGIF1	7050	broad.mit.edu	37	18	3451984	3451984	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:3451984C>G	ENST00000330513.5	+	1	310	c.7C>G	c.(7-9)Cta>Gta	p.L3V	TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000548489.2_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	3					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GAGGATGGTTCTAGCGCAGAG	0.662000													16	20					0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5699054	5699054	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:5699054C>T	ENST00000360614.3	-	10	1826	c.1669G>A	c.(1669-1671)Gag>Aag	p.E557K	LONP1_ENST00000593119.1_Missense_Mutation_p.E493K|LONP1_ENST00000540670.2_Missense_Mutation_p.E361K|LONP1_ENST00000590729.1_Missense_Mutation_p.E427K|LONP1_ENST00000585374.1_Missense_Mutation_p.E443K	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	557					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCTTGATCTCAGCCACGTCA	0.642000													9	40					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49083589	49083589	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:49083589C>G	ENST00000262013.7	-	11	1489	c.1281G>C	c.(1279-1281)ttG>ttC	p.L427F	SPAG9_ENST00000505279.1_Missense_Mutation_p.L413F|SPAG9_ENST00000510283.1_Missense_Mutation_p.L270F|SPAG9_ENST00000357122.4_Missense_Mutation_p.L413F	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	427					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCACTATGTTCAAAGCATTTC	0.363000													12	85					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48647990	48647990	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:48647990G>A	ENST00000297423.4	+	20	3110	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	SPIDR_ENST00000541342.1_Missense_Mutation_p.G839E|SPIDR_ENST00000517693.1_Missense_Mutation_p.G384E|SPIDR_ENST00000518074.1_Silent_p.R849R|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		CTGAGTGCAGGAGGGGCCTCT	0.532000													7	65					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900508	41900508	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:41900508C>T	ENST00000298919.7	+	4	702	c.314C>T	c.(313-315)tCa>tTa	p.S105L	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S107L|PDZRN4_ENST00000402685.2_Missense_Mutation_p.S365L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	365							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTCCTGCTCTCAGACAGGTAT	0.483000													8	40					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37319257	37319257	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:37319257C>G	ENST00000373091.3	-	8	1187	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	GRIK3_ENST00000373093.4_Missense_Mutation_p.D391H|GRIK3_ENST00000462621.1_5'UTR	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	391			D -> H (in a breast cancer sample; somatic mutation).		negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.D391H(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	ATGTCCAGATCAAAATCCGTC	0.542000													10	54					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028077	150028077	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:150028077C>T	ENST00000394243.1	+	3	1346	c.972C>T	c.(970-972)ctC>ctT	p.L324L	SYNPO_ENST00000522122.1_Silent_p.L324L|SYNPO_ENST00000519664.1_Silent_p.L80L|SYNPO_ENST00000518872.1_3'UTR|SYNPO_ENST00000307662.4_Silent_p.L80L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	324					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCACGCTCACCACACCAA	0.602000													18	146					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361516	55361516	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:55361516G>C	ENST00000290552.7	+	4	1764	c.432G>C	c.(430-432)ttG>ttC	p.L144F	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CAGTGGAATTGAGTGGCGCCG	0.587000													9	21					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10429087	10429087	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:10429087C>G	ENST00000245503.5	-	31	4678	c.4294G>C	c.(4294-4296)Gag>Cag	p.E1432Q	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1432Q|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1432					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E1432Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATGAGGTCCTCGACCTCATTC	0.542000													24	62					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627479	38627479	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:38627479C>G	ENST00000413689.1	-	16	2683	c.2490G>C	c.(2488-2490)aaG>aaC	p.K830N	SCN5A_ENST00000449557.2_Missense_Mutation_p.K830N|SCN5A_ENST00000333535.4_Missense_Mutation_p.K830N|SCN5A_ENST00000414099.2_Missense_Mutation_p.K830N|SCN5A_ENST00000443581.1_Missense_Mutation_p.K830N|SCN5A_ENST00000425664.1_Missense_Mutation_p.K830N|SCN5A_ENST00000450102.2_Missense_Mutation_p.K830N|SCN5A_ENST00000451551.2_Missense_Mutation_p.K830N|SCN5A_ENST00000423572.2_Missense_Mutation_p.K830N|SCN5A_ENST00000455624.2_Missense_Mutation_p.K830N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	830					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCCGATGATCTTGATGAGTG	0.572000													3	33					0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104596838	104596838	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:104596838G>C	ENST00000369887.3	-	1	452	c.281C>G	c.(280-282)tCt>tGt	p.S94C	CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	94					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	AGGCCGCCCAGAGAAGTCCTT	0.567000													9	29					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172070670	172070670	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:172070670C>T	ENST00000336824.4	+	22	2691	c.2592C>T	c.(2590-2592)gtC>gtT	p.V864V	FNDC3B_ENST00000416957.1_Silent_p.V864V|FNDC3B_ENST00000415807.2_Silent_p.V864V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	864	Fibronectin type-III 7.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGACCCCGTCTCCACTCTCT	0.562000													12	82					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107917046	107917046	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:107917046C>A	ENST00000393094.2	+	3	800	c.184C>A	c.(184-186)Cat>Aat	p.H62N		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	62					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		AGCAAAAATTCATCAGGCTTT	0.328000													6	37					1.12685e-05	1.17054e-05	1	1	0
ZNF778	197320	broad.mit.edu	37	16	89288576	89288576	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:89288576G>A	ENST00000433976.2	+	3	434	c.102G>A	c.(100-102)ctG>ctA	p.L34L	ZNF778_ENST00000306502.6_Intron	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CTGGCTGGCTGATAAATTGTT	0.423000													12	34					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61308605	61308605	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:61308605C>G	ENST00000402291.1	+	7	930	c.689C>G	c.(688-690)tCa>tGa	p.S230*	KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.S230*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.S230*|KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.S230*|KIAA1841_ENST00000482513.1_3'UTR	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	230										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AATGTCATTTCAATTCTTATT	0.323000													23	72					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32907259	32907259	+	Silent	SNP	G	G	A	rs55986646		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:32907259G>A	ENST00000544455.1	+	10	1871	c.1644G>A	c.(1642-1644)caG>caA	p.Q548Q	BRCA2_ENST00000380152.3_Silent_p.Q548Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	548					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTGCTCACAGAAGGAGGACT	0.388000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	117					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659401	43659401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:43659401G>A	ENST00000374466.3	+	5	1403	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	356					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGAGCTTGGGACAAGGGAG	0.433000													28	88					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112578769	112578769	+	Silent	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:112578769G>T	ENST00000257604.5	+	5	1001	c.384G>T	c.(382-384)ctG>ctT	p.L128L	TRAFD1_ENST00000412615.2_Silent_p.L128L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	128					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TGAAAGATCTGAAGACTCACC	0.458000													23	68					1.37878e-21	1.51421e-21	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61511899	61511899	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:61511899C>A	ENST00000266070.4	-	16	5734	c.5409G>T	c.(5407-5409)caG>caT	p.Q1803H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1803H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1803	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.Q1803H(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCCCCTTCTGGGCTCCGA	0.617000													31	102					6.97489e-18	7.64224e-18	1	1	0
BCL9L	283149	broad.mit.edu	37	11	118772906	118772906	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:118772906C>G	ENST00000334801.3	-	6	2510	c.1546G>C	c.(1546-1548)Gag>Cag	p.E516Q	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	516	Necessary for interaction with CTNNB1 (By similarity).				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCACCTGCTCAGGCGTGAGG	0.622000													15	71					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108863249	108863249	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:108863249C>G	ENST00000356922.4	-	2	640	c.368G>C	c.(367-369)gGa>gCa	p.G123A	LIG4_ENST00000405925.1_Missense_Mutation_p.G123A|LIG4_ENST00000442234.1_Missense_Mutation_p.G123A	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	123					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TGCAAAGTCTCCAGCATCTCC	0.378000								Non-homologous end-joining					59	116					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52962825	52962825	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:52962825G>C	ENST00000371544.3	-	5	1292	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.L344V|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	344					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAGGTGGCAGAGAACGAAGC	0.358000													12	35					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49431737	49431737	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:49431737G>A	ENST00000301067.7	-	34	9401	c.9402C>T	c.(9400-9402)ttC>ttT	p.F3134F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TAGCAATGGTGAATTGGCAAG	0.627000													5	8					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48826512	48826512	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:48826512G>A	ENST00000314191.2	-	24	2786	c.2730C>T	c.(2728-2730)ttC>ttT	p.F910F	PRKDC_ENST00000338368.3_Silent_p.F910F|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	910					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTCGAGGCAGGAACACATCCA	0.433000								Non-homologous end-joining					23	80					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129867197	129867197	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:129867197C>T	ENST00000281142.5	-	16	1907	c.1404G>A	c.(1402-1404)acG>acA	p.T468T	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	468						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTCTGCTCTCGTAAGTCTTA	0.343000													4	39					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99019876	99019876	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:99019876C>G	ENST00000299157.4	-	3	1339	c.966G>C	c.(964-966)caG>caC	p.Q322H	IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	323					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CAAGGGTTTTCTGCATCTCCA	0.308000													24	45					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113081829	113081829	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:113081829C>T	ENST00000409871.1	+	10	1842	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	ZC3H6_ENST00000343936.4_Missense_Mutation_p.P481S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	481	Pro-rich.						nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAGTCCAGGTCCTGGACCTAA	0.542000													15	45					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50098640	50098640	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:50098640G>C	ENST00000443081.1	+	13	2862	c.1943G>C	c.(1942-1944)cGa>cCa	p.R648P	RBM6_ENST00000266022.4_Missense_Mutation_p.R780P|RBM6_ENST00000422955.1_Missense_Mutation_p.R258P|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Missense_Mutation_p.R122P|RBM6_ENST00000442092.1_Missense_Mutation_p.R258P			P78332	RBM6_HUMAN	RNA binding motif protein 6	780					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATACAAATCGACAAGGACAA	0.383000													8	42					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35772210	35772210	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:35772210C>G	ENST00000400441.3	-	11	1244	c.1245G>C	c.(1243-1245)ttG>ttC	p.L415F	MROH8_ENST00000217333.8_Missense_Mutation_p.L295F|MROH8_ENST00000441008.2_Missense_Mutation_p.L401F					maestro heat-like repeat family member 8																		ATGCTCTTTTCAAGTTTTGCT	0.358000													7	17					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14784511	14784511	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:14784511G>A	ENST00000380881.4	-	25	5117	c.4302C>T	c.(4300-4302)atC>atT	p.I1434I	FREM1_ENST00000422223.2_Silent_p.I1433I|FREM1_ENST00000380880.3_Silent_p.I1433I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1433					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGGGGAGGTGATGACATAGA	0.498000													11	20					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190513	17190513	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:17190513G>A	ENST00000265970.7	-	1	775	c.776C>T	c.(775-777)tCt>tTt	p.S259F	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	259					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGACTTTGGAGATACCTGTAG	0.368000													24	34					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45271194	45271194	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:45271194C>T	ENST00000372201.4	+	15	2024	c.1785C>T	c.(1783-1785)ctC>ctT	p.L595L	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	595	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGCTGATTCTCAGTGGCTGGG	0.597000													72	231					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12318152	12318152	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:12318152G>C	ENST00000358136.3	+	10	1232	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	VPS13D_ENST00000356315.4_Missense_Mutation_p.D368H	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	368					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)		GCTGTCCACAGATGACAAGGT	0.408000													7	46					0	0	1	0	0
TRAV21	28662	broad.mit.edu	37	14	22521099	22521099	+	RNA	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:22521099C>G	ENST00000390449.3	+	0	127																											ACTTGGTTCTCAACTGCAGTT	0.483000													22	51					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88128027	88128027	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr6:88128027G>A	ENST00000507897.1	+	7	816	c.733G>A	c.(733-735)Gag>Aag	p.E245K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E245K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	245										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGCCATCCTTGAGAAGGCAGC	0.483000													24	50					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25463215	25463215	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:25463215C>T	ENST00000264709.3	-	19	2615	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A571T|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A760T|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A537T|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	760					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.A760P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCCCATGGCCACCACATTC	0.557000			"""Mis, F, N, S"""		AML								23	90					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34257864	34257864	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:34257864C>T	ENST00000379166.2	-	11	1860	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	KIF24_ENST00000402558.2_Missense_Mutation_p.D581N|KIF24_ENST00000379174.3_Missense_Mutation_p.D447N|KIF24_ENST00000345050.2_Missense_Mutation_p.D447N	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	581					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAACATTTGTCCTCTGACAAA	0.507000													25	36					0	0	1	0	0
ANKRD40	91369	broad.mit.edu	37	17	48773444	48773444	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:48773444C>T	ENST00000285243.6	-	5	1290	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	341										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			AAATTATTTTCACTTATCATC	0.403000													20	79					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296861	15296861	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:15296861G>A	ENST00000378116.4	-	4	442	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	146						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AAATGAACGCGAGGCTGTGGC	0.552000													6	26					0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43133516	43133516	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:43133516G>A	ENST00000342374.4	-	7	957	c.800C>T	c.(799-801)tCc>tTc	p.S267F	SERINC3_ENST00000541235.1_Missense_Mutation_p.S212F|SERINC3_ENST00000255175.1_Missense_Mutation_p.S267F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	267						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			CAAGAGGCCGGAGCGAGGCTG	0.493000													4	14					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287823	42287823	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:42287823C>G	ENST00000302904.4	-	14	1870	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.E423Q|UBTF_ENST00000527034.1_Missense_Mutation_p.E423Q|UBTF_ENST00000436088.1_Missense_Mutation_p.E460Q|UBTF_ENST00000529383.1_Missense_Mutation_p.E460Q|UBTF_ENST00000533177.1_Missense_Mutation_p.E423Q|UBTF_ENST00000343638.5_Missense_Mutation_p.E423Q|UBTF_ENST00000393606.3_Missense_Mutation_p.E423Q			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	460					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCGCCGCCTCTCGGGCCTTG	0.731000											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48202313	48202313	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:48202313G>A	ENST00000330175.4	-	2	328	c.11C>T	c.(10-12)tCa>tTa	p.S4L	SAMD14_ENST00000503131.1_Missense_Mutation_p.S4L	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	4										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCGGAGCTTTGAAGAAGCCAT	0.498000													32	111					0	0	1	0	0
GPR107	57720	broad.mit.edu	37	9	132890960	132890960	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:132890960G>A	ENST00000372406.1	+	19	2133	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	GPR107_ENST00000372410.3_Silent_p.T513T|GPR107_ENST00000347136.6_Silent_p.T494T	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	542						integral to membrane		p.T494T(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTGTTCTAACGGGGTATAAAT	0.433000													77	97					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587821	247587821	+	Missense_Mutation	SNP	A	A	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:247587821A>T	ENST00000366497.2	+	4	1856	c.1076A>T	c.(1075-1077)cAg>cTg	p.Q359L	NLRP3_ENST00000391828.3_Missense_Mutation_p.Q359L|NLRP3_ENST00000348069.2_Missense_Mutation_p.Q359L|NLRP3_ENST00000336119.3_Missense_Mutation_p.Q359L|NLRP3_ENST00000366496.2_Missense_Mutation_p.Q359L|NLRP3_ENST00000391827.2_Missense_Mutation_p.Q359L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	359	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GAGAAACTGCAGCACTTGCTG	0.557000													19	77					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031383	32031383	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:32031383G>A	ENST00000360311.4	+	2	1361	c.812G>A	c.(811-813)cGa>cAa	p.R271Q		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AATCAGAAGCGATACCTTGCA	0.368000													12	76					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732144	30732144	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30732144C>G	ENST00000262518.4	+	20	3483	c.3098C>G	c.(3097-3099)tCa>tGa	p.S1033*	SRCAP_ENST00000395059.2_Nonsense_Mutation_p.S1033*|SRCAP_ENST00000344771.4_Nonsense_Mutation_p.S1033*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1033	Pro-rich.				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)			CCTGAGCTCTCAGCCCAGCCC	0.652000													22	66					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27772697	27772697	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:27772697C>T	ENST00000333743.6	+	8	1238	c.984C>T	c.(982-984)ttC>ttT	p.F328F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	328					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TGTTTGTCTTCGCCGCGCTGA	0.542000													6	28					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206165436	206165436	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:206165436G>C	ENST00000406610.2	+	17	2575	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H	PARD3B_ENST00000462231.1_Missense_Mutation_p.D790H|PARD3B_ENST00000349953.3_Missense_Mutation_p.D790H|PARD3B_ENST00000358768.2_Missense_Mutation_p.D728H|PARD3B_ENST00000351153.1_Intron	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	790					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAAATCCTACGATGGACCTGA	0.478000													19	70					0	0	1	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739597	46739597	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:46739597C>T	ENST00000306448.4	-	2	1367	c.254G>A	c.(253-255)aGa>aAa	p.R85K	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R85K	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	85					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTCGGGCTCTCAGGACTTT	0.488000													26	62					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140021488	140021488	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140021488C>G	ENST00000394671.3	+	4	449	c.348C>G	c.(346-348)ctC>ctG	p.L116L	TMCO6_ENST00000511410.1_3'UTR|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000252100.6_Silent_p.L116L|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	116					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCGGGCTCCTGACCAGCA	0.637000													4	30					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802252	167802252	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:167802252C>T	ENST00000367848.1	-	25	3787	c.3290G>A	c.(3289-3291)cGg>cAg	p.R1097Q	ADCY10_ENST00000545172.1_Missense_Mutation_p.R1036Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.R1189Q			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1189					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGGGCCTGCCGATTCACATA	0.483000													17	109					0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27607947	27607947	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:27607947C>G	ENST00000344034.4	-	5	682	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	PPM1G_ENST00000350803.4_Missense_Mutation_p.E140Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	140					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GCAGCCTCCTCATTGTCCACT	0.562000													27	67					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16103743	16103743	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:16103743C>G	ENST00000399408.2	+	3	511	c.336C>G	c.(334-336)ctC>ctG	p.L112L	ABCC1_ENST00000399410.3_Silent_p.L112L|ABCC1_ENST00000346370.5_Silent_p.L112L|ABCC1_ENST00000351154.5_Silent_p.L112L|ABCC1_ENST00000349029.5_Silent_p.L112L|ABCC1_ENST00000345148.5_Silent_p.L112L			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	112					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)	GCCCAACTCTCTTGGGCATCA	0.517000													22	74					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139928652	139928652	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:139928652G>C	ENST00000297183.6	+	35	7965	c.7841G>C	c.(7840-7842)aGa>aCa	p.R2614T	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R2614T|EIF4EBP3_ENST00000310331.2_Missense_Mutation_p.E89Q	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGGAAGAGATACCCGG	0.557000													11	31					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30898670	30898670	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:30898670C>T	ENST00000375712.3	+	2	1257	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	KIF3B_ENST00000418717.2_Missense_Mutation_p.R52W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	364					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAGATTGCTCGGCTCAAGGC	0.552000													11	49					0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197144231	197144231	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:197144231G>A	ENST00000367405.4	-	8	1962	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTTCACACTGATGAGCTTTT	0.348000													26	68					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9663468	9663468	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:9663468C>G	ENST00000310823.3	-	7	936		c.e7-1		ADAM17_ENST00000497134.1_Splice_Site	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17						B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTAGCTCTATCTGTGTGTATT	0.338000													19	65					0	0	1	0	0
CDK2AP2	10263	broad.mit.edu	37	11	67275127	67275127	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:67275127C>G	ENST00000301488.3	-	2	664	c.116G>C	c.(115-117)gGa>gCa	p.G39A	CDK2AP2_ENST00000531506.1_Missense_Mutation_p.G39A	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	39										lung(1)	1						AGCGCCGGCTCCTGGCACTGA	0.642000													5	27					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19201018	19201018	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:19201018G>C	ENST00000375341.3	-	14	1775	c.1518C>G	c.(1516-1518)atC>atG	p.I506M	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.I446M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.I506M|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.I455M|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	506					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACTTGTCGTTGATGTAGAAGT	0.607000													26	58					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176661	140176661	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:140176661C>T	ENST00000526136.1	+	1	2112	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.I704I|PCDHA2_ENST00000520672.2_Silent_p.I704I	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCGCCATCTGCGCGGTAT	0.677000													21	123					0	0	1	0	0
UBXN1	51035	broad.mit.edu	37	11	62445439	62445439	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:62445439C>T	ENST00000294119.2	-	5	573	c.442G>A	c.(442-444)Gag>Aag	p.E148K	UBXN1_ENST00000301935.5_Missense_Mutation_p.E148K|UBXN1_ENST00000529640.1_Missense_Mutation_p.E148K|UBXN1_ENST00000524762.1_5'UTR|UBXN1_ENST00000533000.1_Missense_Mutation_p.E6K	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	148	Interaction with BRCA1.			E -> AE (in Ref. 1; AAA36396).	negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CGCCTCTCCTCAGCAGCCCGG	0.562000													7	27					0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159490710	159490710	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:159490710G>C	ENST00000389757.3	+	9	1596	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	PKP4_ENST00000389759.3_Missense_Mutation_p.E491Q	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	491					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCGAGTGCAAGAGTGCAATTA	0.493000										HNSCC(62;0.18)			47	130					0	0	1	0	0
BOLA3	388962	broad.mit.edu	37	2	74372381	74372381	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:74372381C>G	ENST00000327428.5	-	2	223	c.104G>C	c.(103-105)aGa>aCa	p.R35T	BOLA3_ENST00000295326.4_Missense_Mutation_p.R35T	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	35						extracellular region				large_intestine(1)|lung(1)	2						TTGGGTCACTCTGAGCTCCCC	0.502000													25	58					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6696439	6696439	+	Silent	SNP	G	G	C	rs34029609	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:6696439G>C	ENST00000245907.6	-	23	2993	c.2901C>G	c.(2899-2901)ctC>ctG	p.L967L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	967					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTGGTCACTGAGGTCTGCAG	0.582000													4	22					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36342508	36342508	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:36342508G>A	ENST00000378910.5	-	2	124	c.125C>T	c.(124-126)aCg>aTg	p.T42M	NPHS1_ENST00000353632.6_Missense_Mutation_p.T42M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	42	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCACCACCGTCAGGTTTTC	0.677000													14	17					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74021829	74021829	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:74021829C>G	ENST00000296805.3	-	18	2306	c.1849G>C	c.(1849-1851)Gaa>Caa	p.E617Q	GFM2_ENST00000345239.2_Missense_Mutation_p.E570Q|GFM2_ENST00000509430.1_Missense_Mutation_p.E617Q|GFM2_ENST00000515125.1_5'UTR	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	617					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		AAAAGGCCTTCATTGATACTT	0.418000													26	49					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26712113	26712113	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:26712113G>C	ENST00000272371.2	-	11	1137	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	OTOF_ENST00000403946.3_Missense_Mutation_p.F337L	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	337	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCCATTTTGAAGGAGCCCA	0.627000													3	15					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183201956	183201956	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:183201956G>C	ENST00000264144.4	+	14	2249	c.2184G>C	c.(2182-2184)ctG>ctC	p.L728L	LAMC2_ENST00000493293.1_Silent_p.L728L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	728	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGATGCAGCTGAGCCTGGCAG	0.493000													24	67					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970564	158970564	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:158970564C>G	ENST00000485419.1	+	3	292	c.123C>G	c.(121-123)ctC>ctG	p.L41L	IQCJ_ENST00000451172.1_Silent_p.L41L|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ_ENST00000397832.2_Silent_p.L41L|IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000482126.1_Intron	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN		0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AGTATCCCCTCAATCTACAGC	0.338000													12	27					0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56724501	56724501	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:56724501C>G	ENST00000381295.2	+	2	360	c.12C>G	c.(10-12)atC>atG	p.I4M	EXOC1_ENST00000349598.6_Missense_Mutation_p.I4M|EXOC1_ENST00000346134.7_Missense_Mutation_p.I4M	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	4					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGACAGCAATCAAGCATGCAT	0.343000													21	65					0	0	1	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54106936	54106936	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:54106936C>T	ENST00000548263.1	-	14	1894	c.1846G>A	c.(1846-1848)Gag>Aag	p.E616K	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E531K|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E616K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E615K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	616	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AAGTTGGCCTCCTCACCCCCA	0.582000													16	43					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111651662	111651662	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:111651662C>G	ENST00000374647.5	-	29	3479	c.3172G>C	c.(3172-3174)Gag>Cag	p.E1058Q	IKBKAP_ENST00000467959.1_5'UTR|IKBKAP_ENST00000537196.1_Missense_Mutation_p.E709Q	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1058					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTCCTCTGCTCAACCAGCTTT	0.418000													31	48					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73974891	73974891	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:73974891C>T	ENST00000553558.1	-	9	2149	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	HEATR4_ENST00000334988.2_Missense_Mutation_p.E610K|HEATR4_ENST00000560393.1_Missense_Mutation_p.E563K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGTGTCCTCATTCTTCTTT	0.483000													13	77					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21861894	21861894	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:21861894C>T	ENST00000399982.2	-	31	6124	c.6060G>A	c.(6058-6060)gaG>gaA	p.E2020E	CHD8_ENST00000430710.3_Silent_p.E1741E|CHD8_ENST00000557364.1_Silent_p.E2020E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2020					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGTCAGACTCTCCAGACTGG	0.577000													6	22					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67794067	67794067	+	Splice_Site	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:67794067G>T	ENST00000262345.1	+	5	1304	c.664G>T	c.(664-666)Gtg>Ttg	p.V222L	IL12RB2_ENST00000544434.1_Splice_Site_p.V222L|IL12RB2_ENST00000371000.1_Splice_Site_p.V222L|IL12RB2_ENST00000541374.1_Splice_Site_p.V222L	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	222					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CTTGGACATAGGTACATTTTA	0.348000													10	113					0.000442599	0.000451178	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:37868208C>T	ENST00000406381.2	+	10	1349	c.839C>T	c.(838-840)tCc>tTc	p.S280F	ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_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)			53	168					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236767	33236767	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:33236767C>T	ENST00000401073.2	+	6	2057	c.1987C>T	c.(1987-1989)Cac>Tac	p.H663Y	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.H615Y|KIAA1522_ENST00000373480.1_Missense_Mutation_p.H604Y	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	604	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATACCTCCTCACCCCAAGGT	0.642000													23	42					0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48465460	48465460	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:48465460G>A	ENST00000225972.7	-	5	698	c.463C>T	c.(463-465)Cag>Tag	p.Q155*		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	155						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TCCCGCTCCTGATCTGCCTGC	0.517000													56	75					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29754908	29754908	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:29754908C>T	ENST00000389048.3	-	4	1933	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	343	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTGCAGTGCTCACTGCTGCTC	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				34	76					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135428786	135428786	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:135428786C>T	ENST00000394143.1	+	6	3212	c.2921C>T	c.(2920-2922)tCa>tTa	p.S974L	GPR112_ENST00000412101.1_Missense_Mutation_p.S769L|GPR112_ENST00000370652.1_Missense_Mutation_p.S974L|GPR112_ENST00000287534.4_Missense_Mutation_p.S911L|GPR112_ENST00000394141.1_Missense_Mutation_p.S769L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	974					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAAGGATATCAGAAACCAGT	0.502000													46	70					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43784583	43784583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:43784583G>A	ENST00000263801.3	-	2	328	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q31*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q31*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q31*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	26					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTTTCAGGCTGAGAATCTTCA	0.443000								Other conserved DNA damage response genes					14	118					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350926	56350926	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:56350926G>A	ENST00000340482.3	-	8	1742	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	MPO_ENST00000225275.3_Silent_p.I490I			P05164	PERM_HUMAN	myeloperoxidase	490					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	p.I490I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGACGTTGGCGATGCGTGGGT	0.602000													35	151					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169464	169464	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:169464G>A	ENST00000283426.6	+	12	2468	c.2418G>A	c.(2416-2418)ctG>ctA	p.L806L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	806	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GCAGCCGACTGAGGCACATCA	0.498000													20	62					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166913997	166913997	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:166913997C>G	ENST00000061240.2	+	3	969	c.322C>G	c.(322-324)Ctc>Gtc	p.L108V	TLL1_ENST00000507499.1_Missense_Mutation_p.L108V|TLL1_ENST00000513213.1_Missense_Mutation_p.L108V	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	108					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCGAGGGGCCCTCTACCAACT	0.343000													4	46					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78570935	78570935	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:78570935C>T	ENST00000397909.2	+	27	5312	c.5139C>T	c.(5137-5139)ttC>ttT	p.F1713F	NAV3_ENST00000266692.7_Silent_p.F1536F|NAV3_ENST00000228327.6_Silent_p.F1713F|NAV3_ENST00000536525.2_Silent_p.F1713F			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1713						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAAGTTCTTTCAAACAAGCCT	0.448000										HNSCC(70;0.22)			36	95					0	0	1	0	0
KRTAP20-1	337975	broad.mit.edu	37	21	31988928	31988928	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:31988928C>G	ENST00000334664.2	+	1	179	c.155C>G	c.(154-156)tCa>tGa	p.S52*		NM_181615.1	NP_853646.1	Q3LI63	KR201_HUMAN	keratin associated protein 20-1	52			S -> L (in a breast cancer sample; somatic mutation).			intermediate filament		p.S52L(1)		breast(1)|endometrium(3)|lung(1)|pancreas(1)|skin(1)	7						AGATATTGGTCATATGGTTTC	0.448000													26	80					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49392972	49392972	+	Silent	SNP	T	T	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:49392972T>C	ENST00000421952.2	-	1	120	c.99A>G	c.(97-99)ctA>ctG	p.L33L	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	33						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTATCACCAATAGCTTGGACT	0.607000													4	17					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3299730	3299730	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:3299730C>G	ENST00000219596.1	-	3	1000	c.961G>C	c.(961-963)Gac>Cac	p.D321H	MEFV_ENST00000339854.4_Missense_Mutation_p.D141H|MEFV_ENST00000541159.1_Missense_Mutation_p.D110H|MEFV_ENST00000536379.1_Missense_Mutation_p.D110H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	321					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TCAACTGGGTCTCCTTCCTGG	0.642000													9	26					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32157018	32157018	+	Splice_Site	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:32157018C>T	ENST00000373672.3	-	19	1914	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	COL16A1_ENST00000373668.3_Splice_Site_p.P466P|COL16A1_ENST00000271069.6_Splice_Site_p.P466P	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	466	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGGTACTCACCGGGGTCCCAG	0.667000													4	17					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761509	96761509	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:96761509C>A	ENST00000295266.4	+	1	271	c.208C>A	c.(208-210)Cgc>Agc	p.R70S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	70					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R70S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCTGACTGTTCGCCGCATGGA	0.493000													14	70					1.36491e-13	1.47839e-13	1	1	0
GSDMB	55876	broad.mit.edu	37	17	38068640	38068640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:38068640G>A	ENST00000394175.2	-	2	569	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	GSDMB_ENST00000418519.1_Nonsense_Mutation_p.Q116*|GSDMB_ENST00000360317.3_Nonsense_Mutation_p.Q116*|GSDMB_ENST00000520542.1_Nonsense_Mutation_p.Q116*|GSDMB_ENST00000394179.1_Nonsense_Mutation_p.Q116*|GSDMB_ENST00000309481.7_Nonsense_Mutation_p.Q116*	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	116						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTGATTTTCTGATGGTGGAAG	0.453000													13	80					0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235297	50235297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:50235297C>T	ENST00000242827.6	-	4	478	c.428G>A	c.(427-429)tGg>tAg	p.W143*	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_Silent_p.L73L|EBPL_ENST00000378284.2_3'UTR|EBPL_ENST00000378272.5_Missense_Mutation_p.G97R	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	143					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GAAGGTCATCCAGCAGCCATA	0.537000													9	66					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139741401	139741401	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:139741401C>T	ENST00000230993.6	+	4	621	c.586C>T	c.(586-588)Cat>Tat	p.H196Y	SLC4A9_ENST00000507527.1_Missense_Mutation_p.H196Y|SLC4A9_ENST00000432095.2_Missense_Mutation_p.H172Y|SLC4A9_ENST00000506757.2_Missense_Mutation_p.H172Y|SLC4A9_ENST00000506545.1_Missense_Mutation_p.H172Y	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	196						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTCTACTCATCCAAGAAA	0.517000													26	77					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69381831	69381831	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:69381831G>C	ENST00000564737.1	-	3	325	c.326C>G	c.(325-327)tCa>tGa	p.S109*	TMED6_ENST00000288025.3_Missense_Mutation_p.Q117E|RP11-343C2.9_ENST00000563634.1_Intron																							AGACAAAGCTGATAAAAACCT	0.423000													45	100					0	0	1	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231585	142231585	+	RNA	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:142231585G>A	ENST00000390364.3	-	0	399																											CTCACTGCTGGCGCAGAAATA	0.542000													26	74					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576168	49576168	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:49576168C>A	ENST00000244051.1	+	1	806	c.789C>A	c.(787-789)atC>atA	p.I263I		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	263					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.I263I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TGCTGAAAATCGCTGCGGGTC	0.642000													17	53					1.37285e-15	1.49728e-15	1	1	0
SHFM1	7979	broad.mit.edu	37	7	96339024	96339024	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:96339024C>T	ENST00000248566.2	-	1	179	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SHFM1_ENST00000444799.1_Missense_Mutation_p.E18K|SHFM1_ENST00000413065.1_Missense_Mutation_p.E18K|SHFM1_ENST00000417009.1_Missense_Mutation_p.E18K	NM_006304.1	NP_006295.1	P60896	DSS1_HUMAN	split hand/foot malformation (ectrodactyly) type 1	18	Asp/Glu-rich (highly acidic).				proteolysis	proteasome complex	peptidase activity|protein binding			breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					TCTTCAAACTCGTCGTCTTCC	0.567000								Homologous recombination					36	123					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067310	62067310	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:62067310C>G	ENST00000404929.1	-	3	840	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	FAM161A_ENST00000405894.3_Missense_Mutation_p.E277Q	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	277					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTATACTCTGGATCCTCT	0.378000													13	113					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133740079	133740079	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:133740079G>A	ENST00000356838.3	-	6	726	c.584C>T	c.(583-585)tCt>tTt	p.S195F	TMEM71_ENST00000523829.1_Missense_Mutation_p.S214F|TMEM71_ENST00000377901.4_Intron	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	214						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GAAACGTTCAGAAGCTGTCAA	0.453000													33	79					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85932457	85932457	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:85932457G>C	ENST00000383699.3	+	4	882	c.255G>C	c.(253-255)agG>agC	p.R85S	CADM2_ENST00000407528.2_Missense_Mutation_p.R76S|CADM2_ENST00000405615.2_Missense_Mutation_p.R78S	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	76	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GGGACAATAGGATCGAGCTGG	0.363000													7	53					0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43452597	43452597	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:43452597C>A	ENST00000282388.3	-	2	639	c.346G>T	c.(346-348)Gag>Tag	p.E116*	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	116					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				AATTTGTTCTCCTTGTTGAGC	0.687000													4	15					1.024e-07	1.07471e-07	1	1	0
MOCS3	27304	broad.mit.edu	37	20	49575457	49575457	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:49575457G>A	ENST00000244051.1	+	1	95	c.78G>A	c.(76-78)caG>caA	p.Q26Q		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	26					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CGCTGAAGCAGAAGCTGGCGT	0.607000													23	88					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129867281	129867281	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:129867281C>T	ENST00000281142.5	-	16	1823	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	440						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGTAATCACTCTCATTTCCTC	0.353000													3	29					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107977714	107977714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:107977714G>A	ENST00000372129.2	-	1	1937	c.1861C>T	c.(1861-1863)Caa>Taa	p.Q621*		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	621						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTTGCTTTGAGTTAATTTG	0.522000													37	119					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714407	65714407	+	RNA	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:65714407G>C	ENST00000608857.1	+	0	204				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGAGGTCTCAGAGCTCAAGGC	0.592000													5	27					0	0	1	0	0
IL37	27178	broad.mit.edu	37	2	113672834	113672834	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:113672834G>C	ENST00000311328.2	+	1	65	c.65G>C	c.(64-66)aGa>aCa	p.R22T	IL37_ENST00000349806.3_Intron|IL37_ENST00000353225.3_Intron|IL37_ENST00000263326.3_Intron|IL37_ENST00000352179.3_Intron	NM_173205.1	NP_775297.1	Q9NZH6	IL37_HUMAN	interleukin 37	0					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AAGCGCTTAAGAGGTACAAAG	0.418000													11	23					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85612913	85612913	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:85612913G>C	ENST00000322366.6	-	59	9431	c.9024C>G	c.(9022-9024)atC>atG	p.I3008M	WDFY3_ENST00000295888.4_Missense_Mutation_p.I3025M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3025						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGTACATACGATTTGTCCTA	0.373000													7	54					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101252695	101252695	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:101252695C>T	ENST00000388798.2	+	18	2536	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	SPAG1_ENST00000251809.3_Missense_Mutation_p.S782F	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	782					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TGCCTTGCTTCTGAGAAGGGA	0.468000													20	60					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153972586	153972586	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:153972586G>A	ENST00000356448.4	+	14	2730	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.V816I|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	816	SH3.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						GGCTGACGTCGTCCTCATCTA	0.522000													14	130					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99640715	99640715	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:99640715C>A	ENST00000345514.2	-	3	2511	c.2245G>T	c.(2245-2247)Ggc>Tgc	p.G749C	BCL11B_ENST00000443726.2_Missense_Mutation_p.G626C|BCL11B_ENST00000357195.3_Missense_Mutation_p.G820C	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	820						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGCCGCTCGCCGGTGTGGCTC	0.652000			T	TLX3	T-ALL								8	27					0.000157383	0.000161012	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19654269	19654269	+	Silent	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:19654269G>C	ENST00000328041.6	+	9	935	c.738G>C	c.(736-738)ctG>ctC	p.L246L		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	246						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCTTGTGCTGATGTATCTTA	0.358000													16	40					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36895052	36895052	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:36895052C>T	ENST00000580830.1	-	8	1080	c.379G>A	c.(379-381)Gat>Aat	p.D127N	PCGF2_ENST00000585100.1_Missense_Mutation_p.D127N|PCGF2_ENST00000581345.1_Missense_Mutation_p.D127N|PCGF2_ENST00000360797.2_Missense_Mutation_p.D127N|PCGF2_ENST00000578109.1_Missense_Mutation_p.D73N|PCGF2_ENST00000579882.1_Missense_Mutation_p.D127N			P35227	PCGF2_HUMAN	polycomb group ring finger 2	127					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ATCTCATCATCACTCAGAGCC	0.592000													49	60					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088472	32088472	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:32088472G>C	ENST00000438447.1	+	20	5306	c.4918G>C	c.(4918-4920)Gag>Cag	p.E1640Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1640Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	1640					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CACTCCGAGAGAGTCGGTGGC	0.577000													26	94					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483226	12483226	+	Nonsense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:12483226G>C	ENST00000535902.1	-	4	1594	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*	MANSC1_ENST00000545735.1_Nonsense_Mutation_p.S263*|MANSC1_ENST00000396349.3_Nonsense_Mutation_p.S310*			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	344						integral to membrane		p.S344*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTCCACATTTGACATAGAAAG	0.463000													38	70					0	0	1	0	0
NGFR	4804	broad.mit.edu	37	17	47590092	47590092	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:47590092C>G	ENST00000172229.3	+	6	1130	c.1005C>G	c.(1003-1005)ctC>ctG	p.L335L	NGFR_ENST00000504201.1_Silent_p.L241L|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	335	Mediates interaction with KIDINS220 (By similarity).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					ACGGAGGCCTCTACAGCAGCC	0.652000													6	108					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133248872	133248872	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:133248872C>G	ENST00000320574.5	-	16	1766	c.1723G>C	c.(1723-1725)Gag>Cag	p.E575Q	POLE_ENST00000535270.1_Missense_Mutation_p.E548Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	575					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAGGTCTTCTCAACCCGCTGC	0.567000								DNA polymerases (catalytic subunits)					17	39					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417676	28417676	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:28417676G>C	ENST00000394835.3	+	20	4113	c.3921G>C	c.(3919-3921)aaG>aaC	p.K1307N	EFCAB5_ENST00000320856.5_Missense_Mutation_p.K1183N|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1307							calcium ion binding	p.K1308fs*4(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGAGATAAAGAAAAAATATA	0.373000													22	102					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283238	5283238	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:5283238C>G	ENST00000546004.1	-	3	849	c.603G>C	c.(601-603)aaG>aaC	p.K201N	PROKR2_ENST00000217270.3_Missense_Mutation_p.K201N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	201						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCTCCTGGCTCTTGACAATAA	0.512000										HNSCC(71;0.22)			20	81					0	0	1	0	0
DCUN1D5	84259	broad.mit.edu	37	11	102962543	102962543	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:102962543C>G	ENST00000260247.5	-	1	401	c.59G>C	c.(58-60)gGa>gCa	p.G20A	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.G20A|DCUN1D5_ENST00000529076.1_5'UTR	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	20										NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTTGAGGCCTCCGTCTTCCGC	0.602000													9	71					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294044	62294044	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:62294044G>C	ENST00000378024.4	-	5	8119	c.7845C>G	c.(7843-7845)atC>atG	p.I2615M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2615					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCCCCTTGATGTCAACTT	0.517000													40	245					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52721524	52721524	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:52721524G>T	ENST00000394799.2	+	4	391	c.181G>T	c.(181-183)Gaa>Taa	p.E61*	GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Nonsense_Mutation_p.E73*	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	73					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ACAGCTTGAAGAACTAAAACA	0.378000													14	48					2.32078e-09	2.46486e-09	1	1	0
JSRP1	126306	broad.mit.edu	37	19	2252684	2252684	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:2252684C>T	ENST00000300961.6	-	7	704	c.640G>A	c.(640-642)Gag>Aag	p.E214K	JSRP1_ENST00000586471.2_Missense_Mutation_p.E214K	NM_144616.3	NP_653217.1	Q96MG2	JSPR1_HUMAN	junctional sarcoplasmic reticulum protein 1							sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCCGGGCTCCTCTTCGTCG	0.721000													18	83					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92564867	92564867	+	Silent	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:92564867C>A	ENST00000298047.6	+	13	9578	c.9561C>A	c.(9559-9561)atC>atA	p.I3187I	FAT3_ENST00000525166.1_Silent_p.I3037I|FAT3_ENST00000409404.2_Silent_p.I3187I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3187	Cadherin 29.				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)				CTGGCATCATCATCCTGGAGC	0.562000										TCGA Ovarian(4;0.039)			7	14					6.5536e-12	7.04475e-12	1	1	0
MS4A8	83661	broad.mit.edu	37	11	60468455	60468455	+	Missense_Mutation	SNP	C	C	T	rs143047257	byFrequency	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:60468455C>T	ENST00000300226.2	+	2	325	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8																		AACAGCCAGCCGCAAGTCCAC	0.537000													12	87					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151837852	151837852	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:151837852C>G	ENST00000535741.1	-	6	1157	c.684G>C	c.(682-684)caG>caC	p.Q228H	LRBA_ENST00000507224.1_Missense_Mutation_p.Q228H|LRBA_ENST00000510413.1_Missense_Mutation_p.Q228H|LRBA_ENST00000357115.3_Missense_Mutation_p.Q228H			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	228						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TAAAACCATTCTGGTATGGCC	0.323000													10	35					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48647883	48647883	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:48647883G>A	ENST00000518074.1	+	19	2611	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	SPIDR_ENST00000297423.4_Silent_p.K873K|SPIDR_ENST00000541342.1_Silent_p.K803K|SPIDR_ENST00000517693.1_Silent_p.K348K|SPIDR_ENST00000518060.1_3'UTR|SPIDR_ENST00000521214.1_3'UTR	NM_001282919.1	NP_001269848.1			scaffolding protein involved in DNA repair																		ACGAAGTGAAGAGTGTCCTCG	0.507000													22	172					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36894649	36894649	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:36894649G>C	ENST00000580830.1	-	10	1234	c.533C>G	c.(532-534)gCc>gGc	p.A178G	PCGF2_ENST00000585100.1_Missense_Mutation_p.C179W|PCGF2_ENST00000581345.1_Missense_Mutation_p.A178G|PCGF2_ENST00000360797.2_Missense_Mutation_p.A178G|PCGF2_ENST00000578109.1_Missense_Mutation_p.C125W|PCGF2_ENST00000579882.1_Missense_Mutation_p.C179W			P35227	PCGF2_HUMAN	polycomb group ring finger 2	178					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					GAGAAACTTGGCAAGATGCAT	0.577000													10	55					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473142	2473142	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:2473142G>A	ENST00000258711.6	+	2	1003	c.868G>A	c.(868-870)Gag>Aag	p.E290K		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	290					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		CTCGGCGCGCGAGGCCTTCCG	0.652000													7	56					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28725799	28725799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:28725799C>A	ENST00000396298.2	+	1	202	c.32C>A	c.(31-33)tCa>tAa	p.S11*	CREB5_ENST00000409603.1_Intron|CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_Intron|CREB5_ENST00000357727.2_Intron	NM_001011666.1	NP_001011666.1	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	0					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AATTCAGCCTCAGTGATGTCC	0.398000													40	93					2.24893e-16	2.45653e-16	1	1	0
PCLO	27445	broad.mit.edu	37	7	82544514	82544514	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:82544514C>T	ENST00000333891.9	-	7	13125	c.12788G>A	c.(12787-12789)gGa>gAa	p.G4263E	PCLO_ENST00000423517.2_Missense_Mutation_p.G4263E|PCLO_ENST00000437081.1_Missense_Mutation_p.G983E	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGCCCAGTCCTGTGCCAAG	0.473000													4	10					0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121674253	121674253	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr10:121674253C>G	ENST00000369075.3	+	7	1396	c.1324C>G	c.(1324-1326)Caa>Gaa	p.Q442E	SEC23IP_ENST00000543134.1_Missense_Mutation_p.Q231E	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	442					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GGAGATGCCTCAAGTTGACCA	0.373000													34	123					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													3	31					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73974898	73974898	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:73974898C>T	ENST00000553558.1	-	9	2142	c.1821G>A	c.(1819-1821)aaG>aaA	p.K607K	HEATR4_ENST00000334988.2_Silent_p.K607K|HEATR4_ENST00000560393.1_Silent_p.K560K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTCATTCTTCTTTGTAAACA	0.488000													12	70					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14108512	14108512	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:14108512G>C	ENST00000235372.7	+	8	5078	c.4222G>C	c.(4222-4224)Gag>Cag	p.E1408Q	PRDM2_ENST00000311066.5_Missense_Mutation_p.E1408Q|PRDM2_ENST00000413440.1_Missense_Mutation_p.E1207Q|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.E1207Q	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1408	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTTTAGTGTTGAGCTCAGCAA	0.383000													19	65					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68119375	68119375	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:68119375C>T	ENST00000380035.2	+	2	1267	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SKOR1_ENST00000554240.1_Silent_p.F364F|SKOR1_ENST00000341418.5_Silent_p.F510F|SKOR1_ENST00000389002.1_Silent_p.F359F|SKOR1_ENST00000554054.1_Silent_p.F375F			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	403					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CTACGGCCTTCGGCCTATGCC	0.677000													25	27					0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148930274	148930274	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:148930274G>A	ENST00000264613.6	-	2	620	c.358C>T	c.(358-360)Cat>Tat	p.H120Y		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	120	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATGTGAATGAAAGGTGTAG	0.398000													5	57					0	0	1	0	0
NARS	4677	broad.mit.edu	37	18	55283166	55283166	+	Translation_Start_Site	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:55283166G>A	ENST00000423481.2	-	0	202				NARS_ENST00000256854.5_Silent_p.Y45Y			O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	GTGAATCTACGTAAATGGTAG	0.348000													17	38					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35570219	35570219	+	Nonsense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:35570219C>G	ENST00000373330.1	+	7	830	c.656C>G	c.(655-657)tCa>tGa	p.S219*	ZMYM1_ENST00000359858.4_Nonsense_Mutation_p.S219*|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	219						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTGCCTTTCAAAGTTTCAC	0.358000													22	55					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113158412	113158412	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:113158412G>A	ENST00000261965.3	-	19	2427	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	TUBGCP3_ENST00000375669.3_Silent_p.I747I	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	747					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GTGCAGCAATGATGTGATCCA	0.483000													29	112					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30793812	30793812	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:30793812G>C	ENST00000262525.4	-	3	2044	c.1837C>G	c.(1837-1839)Cag>Gag	p.Q613E		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GATCGTAACTGAGGAGGTTTG	0.617000													5	6					0	0	1	0	0
MDH1	4190	broad.mit.edu	37	2	63832525	63832525	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:63832525G>A	ENST00000233114.8	+	7	1222	c.787G>A	c.(787-789)Gag>Aag	p.E263K	MDH1_ENST00000544381.1_Missense_Mutation_p.E174K|MDH1_ENST00000409476.1_Missense_Mutation_p.E139K|MDH1_ENST00000539945.1_Missense_Mutation_p.E281K|MDH1_ENST00000409908.1_Missense_Mutation_p.E98K|MDH1_ENST00000394423.1_Missense_Mutation_p.E263K	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	263					gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	TGGAACCCCAGAGGTAAGGAT	0.443000													8	39					0	0	1	0	0
ATP6AP2	10159	broad.mit.edu	37	X	40460035	40460035	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:40460035C>G	ENST00000378438.4	+	8	918	c.760C>G	c.(760-762)Ctt>Gtt	p.L254V	ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L176V|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L222V|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L178V	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	254					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CATGTACAGTCTTTATGGTGG	0.348000													34	34					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407204	38407204	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:38407204G>A	ENST00000322350.5	+	8	1449	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R368Q|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R134Q	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	368	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R368Q(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGGGCTCGCGATGCCAGTGC	0.552000													5	37					0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91292826	91292826	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:91292826G>A	ENST00000355112.3	+	3	446	c.328G>A	c.(328-330)Gat>Aat	p.D110N	BLM_ENST00000560509.1_Missense_Mutation_p.D110N	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	110					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ATTATTGCCAGATTTCTTGCA	0.418000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				9	54					0	0	1	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156698735	156698735	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr4:156698735G>A	ENST00000264424.8	+	4	320	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E80K|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E12K|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E12K|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E60K|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E12K|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E80K	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	80					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTTTTGCCAAGAATCTGGTTA	0.358000													8	38					0	0	1	0	0
GPR32	2854	broad.mit.edu	37	19	51274724	51274724	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:51274724C>T	ENST00000270590.4	+	1	1004	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	289						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TCAAGGAAATCTACCACCCCC	0.562000													18	47					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875847	46875847	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr21:46875847G>A	ENST00000359759.4	+	1	424	c.403G>A	c.(403-405)Gag>Aag	p.E135K	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.E135K			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	135					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGTCCCCACTGAGAGCTTGGC	0.642000													10	55					0	0	1	0	0
SENP1	29843	broad.mit.edu	37	12	48491874	48491874	+	Missense_Mutation	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:48491874C>G	ENST00000339976.6	-	3	516	c.134G>C	c.(133-135)gGa>gCa	p.G45A	SENP1_ENST00000004980.5_Missense_Mutation_p.G13A|SENP1_ENST00000551330.1_Missense_Mutation_p.G13A|SENP1_ENST00000549518.1_Missense_Mutation_p.G13A|SENP1_ENST00000549595.1_Missense_Mutation_p.G13A|SENP1_ENST00000448372.1_Missense_Mutation_p.G13A			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	13	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AGTCACTTCTCCAGCATCCAT	0.438000													10	24					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25480410	25480410	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:25480410G>A	ENST00000381884.4	-	7	1951	c.1766C>T	c.(1765-1767)tCa>tTa	p.S589L	CENPJ_ENST00000545981.1_Missense_Mutation_p.S589L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	589					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		ACTAGAAAATGATATTTCATC	0.368000													30	36					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41119803	41119803	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr19:41119803C>T	ENST00000243562.9	+	1	302	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	LTBP4_ENST00000308370.7_Intron|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000602240.1_Intron|LTBP4_ENST00000204005.9_Intron|LTBP4_ENST00000396819.3_Intron			Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	914					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGGGCCTTCGGACGCCCTG	0.662000													5	21					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10105453	10105453	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:10105453C>T	ENST00000324907.9	+	8	1189	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	GRHL1_ENST00000324883.5_Silent_p.I162I|GRHL1_ENST00000405379.2_Silent_p.I351I	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	351				I -> V (in Ref. 6; AAH67519).	cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		TCAGTAACATCGAGGAGATTG	0.453000													25	64					0	0	1	0	0
ANKRD54	129138	broad.mit.edu	37	22	38228752	38228752	+	Splice_Site	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr22:38228752C>G	ENST00000215941.4	-	7	913		c.e7-1		ANKRD54_ENST00000609454.1_Splice_Site|ANKRD54_ENST00000411961.2_Splice_Site|ANKRD54_ENST00000498417.1_Splice_Site|ANKRD54_ENST00000406423.1_Splice_Site	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54											lung(1)	1	Melanoma(58;0.045)					TATGGATGATCTGGAACAAGA	0.577000													16	36					0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120510357	120510357	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr12:120510357C>T	ENST00000397558.2	+	6	1132	c.1132C>T	c.(1132-1134)Ctg>Ttg	p.L378L	CCDC64_ENST00000446727.2_Intron|CCDC64_ENST00000257583.4_Silent_p.L27L	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	378					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTTCGCTATCTGTGCTCACA	0.537000													13	111					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100092735	100092735	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr9:100092735G>A	ENST00000375202.2	+	32	3444	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.E695K|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.E837K|CCDC180_ENST00000529487.1_Missense_Mutation_p.E698K|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		AGAAGAGGTGGAAGAAGAAAA	0.448000													13	35					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599349	57599349	+	Silent	SNP	C	C	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr20:57599349C>G	ENST00000217133.1	+	4	1136	c.867C>G	c.(865-867)ctC>ctG	p.L289L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	289					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCCGAGCTCACCCAGCAGA	0.642000													13	33					0	0	1	0	0
CLEC10A	10462	broad.mit.edu	37	17	6980295	6980295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:6980295G>A	ENST00000576617.1	-	4	465	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	CLEC10A_ENST00000416562.2_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000571664.1_Nonsense_Mutation_p.Q66*|CLEC10A_ENST00000254868.4_Nonsense_Mutation_p.Q66*			Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	66					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGGTCCCTCTGAAATTTGGAA	0.517000													14	24					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141572601	141572601	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:141572601C>T	ENST00000220592.5	-	4	581	c.469G>A	c.(469-471)Gag>Aag	p.E157K	AGO2_ENST00000519980.1_Missense_Mutation_p.E157K	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		TGGATCGTCTCAAAAGGGACG	0.622000													28	94					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155699141	155699141	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:155699141G>T	ENST00000368336.5	+	9	951	c.827G>T	c.(826-828)aGa>aTa	p.R276I	DAP3_ENST00000343043.3_Missense_Mutation_p.R276I|DAP3_ENST00000471642.2_Missense_Mutation_p.R235I|DAP3_ENST00000421487.2_Missense_Mutation_p.R242I|DAP3_ENST00000535183.1_Missense_Mutation_p.R235I|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	276					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTCTGAAAAGAGAAGATAAA	0.453000													13	81					6.31663e-08	6.63433e-08	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44804952	44804952	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:44804952C>T	ENST00000309315.4	+	16	2139	c.2016C>T	c.(2014-2016)atC>atT	p.I672I	ZMIZ2_ENST00000433667.1_Silent_p.I640I|ZMIZ2_ENST00000413916.1_Silent_p.I614I|ZMIZ2_ENST00000265346.7_Silent_p.I646I|ZMIZ2_ENST00000441627.1_Silent_p.I672I	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	672					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATGAGGAGATCACCATCGACC	0.657000													6	34					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750799	40750799	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:40750799G>A	ENST00000561234.1	+	2	395	c.136G>A	c.(136-138)Ggt>Agt	p.G46S	BAHD1_ENST00000416165.1_Missense_Mutation_p.G46S|BAHD1_ENST00000560846.1_Missense_Mutation_p.G46S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	46					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGAGAGCCCAGGTCACCTCAC	0.622000													14	78					0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	24118813	24118813	+	Missense_Mutation	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr2:24118813C>T	ENST00000238789.5	-	2	587	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	82							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTGGCTATCACTTAAACTA	0.363000													12	27					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881205	64881205	+	Missense_Mutation	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:64881205G>A	ENST00000533854.1	+	6	913	c.676G>A	c.(676-678)Gat>Aat	p.D226N	CACNG5_ENST00000307139.3_Missense_Mutation_p.D226N			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	226				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CAACTGCTCCGATTACTCAGG	0.622000													7	58					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48145665	48145665	+	Missense_Mutation	SNP	G	G	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:48145665G>T	ENST00000320031.8	+	4	990	c.660G>T	c.(658-660)tgG>tgT	p.W220C	ITGA3_ENST00000544892.1_Intron|ITGA3_ENST00000007722.7_Missense_Mutation_p.W220C	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	220					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CCTACAACTGGAAAGGTGGGG	0.617000													25	27					1.42536e-11	1.52871e-11	1	1	0
ZNF3	7551	broad.mit.edu	37	7	99669290	99669290	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:99669290G>C	ENST00000303915.6	-	5	1784	c.817C>G	c.(817-819)Ctg>Gtg	p.L273V	ZNF3_ENST00000424697.1_Missense_Mutation_p.L273V|ZNF3_ENST00000299667.4_Missense_Mutation_p.L273V|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	273					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCCGATGCAGAATGAGGGCA	0.498000													17	63					0	0	1	0	0
DDB2	1643	broad.mit.edu	37	11	47259414	47259414	+	Silent	SNP	C	C	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:47259414C>T	ENST00000256996.4	+	8	1245	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Silent_p.L286L|DDB2_ENST00000378600.3_Silent_p.L161L	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	350					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GCTACAACCTCATTGTTGTGG	0.473000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				19	41					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9584808	9584808	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:9584808G>C	ENST00000400556.3	-	7	677	c.604C>G	c.(604-606)Ccc>Gcc	p.P202A	PPP4R1_ENST00000580583.1_5'UTR|PPP4R1_ENST00000400555.3_Missense_Mutation_p.P185A	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	202					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CCAACCATGGGAGCCATTTTG	0.338000													9	10					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484518	100484518	+	Missense_Mutation	SNP	C	C	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:100484518C>A	ENST00000388793.4	+	14	1967	c.1747C>A	c.(1747-1749)Cct>Act	p.P583T	SRRT_ENST00000347433.4_Missense_Mutation_p.P584T|SRRT_ENST00000457580.2_Missense_Mutation_p.P584T|SRRT_ENST00000432932.1_Missense_Mutation_p.P583T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	584					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.P584S(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCGCTCCTCCTGAGGA	0.617000													15	50					1.52009e-12	1.64272e-12	1	1	0
TRIM59	286827	broad.mit.edu	37	3	160155934	160155934	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:160155934G>A	ENST00000309784.4	-	3	1223	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	TRIM59_ENST00000543469.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	346						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAAAAAGAGTATCGACA	0.313000													13	44					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43532377	43532377	+	Missense_Mutation	SNP	T	T	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr18:43532377T>C	ENST00000282041.5	-	3	1275	c.1241A>G	c.(1240-1242)cAg>cGg	p.Q414R		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	414					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCGGCCTTGCTGGTGAATTGC	0.383000													6	50					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263975	111263975	+	Missense_Mutation	SNP	G	G	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:111263975G>C	ENST00000352690.4	+	2	384	c.144G>C	c.(142-144)caG>caC	p.Q48H	CD96_ENST00000438817.2_Missense_Mutation_p.Q48H|CD96_ENST00000283285.5_Missense_Mutation_p.Q48H	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	48	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GCCAAACACAGACAGTAGGCT	0.438000									Opitz Trigonocephaly syndrome				11	93					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77924273	77924273	+	Silent	SNP	G	G	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:77924273G>A	ENST00000310924.2	-	6	1309	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	TBC1D16_ENST00000576768.1_Silent_p.V37V|TBC1D16_ENST00000572862.1_Silent_p.V36V|TBC1D16_ENST00000340848.7_Silent_p.V36V|TBC1D16_ENST00000570373.1_Silent_p.V37V	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	398						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCCAGGCGGAGACGCCGAGCC	0.662000													5	20					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087893	27087903	+	Frame_Shift_Del	DEL	GGCCACCCAGT	GGCCACCCAGT	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:27087893_27087903delGGCCACCCAGT	ENST00000324856.7	+	6	2551_2561	c.2180_2190delGGCCACCCAGT	c.(2179-2190)cggccacccagtfs	p.RPPS727fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.RPPS727fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.RPPS344fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	727					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R727fs*12(1)|p.P728fs(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGCCACCTCGGCCACCCAGTGGCCAGTCGG	0.521			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	37	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-258)atccccfs	p.IP85fs	ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.IP85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.IP85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													17	83	---	---	---	---					
ELK4	2005	broad.mit.edu	37	1	205592904	205592904	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr1:205592904delA	ENST00000357992.4	-	2	446	c.107delT	c.(106-108)ttgfs	p.L36fs	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Frame_Shift_Del_p.L36fs	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TTCTGCCTGCAAAAGCTTAAA	0.478			T	SLC45A3	prostate								13	122	---	---	---	---					
EPHB3	2049	broad.mit.edu	37	3	184298342	184298342	+	Frame_Shift_Del	DEL	A	A	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr3:184298342delA	ENST00000330394.2	+	12	2777	c.2325delA	c.(2323-2325)tcafs	p.S775fs	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	775	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCAAAGTCTCAGACTTTGGCC	0.597													17	135	---	---	---	---					
C1QTNF3-AMACR	100534612	broad.mit.edu	37	5	34020707	34020708	+	Frame_Shift_Ins	INS	-	-	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr5:34020707_34020708insG	ENST00000382079.3	-	6	747_748	c.673_674insC	c.(673-675)ctgfs	p.L225fs	C1QTNF3_ENST00000231338.7_Frame_Shift_Ins_p.L241fs|C1QTNF3_ENST00000382065.3_Frame_Shift_Ins_p.L314fs						241																	TTCAAAGAGCAGGAATCCTGCA	0.470													17	123	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39125538	39125539	+	In_Frame_Ins	INS	-	-	AGA			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr7:39125538_39125539insAGA	ENST00000518318.2	+	2	139_140	c.97_98insAGA	c.(97-99)gac>gAGAac	p.33_33D>EN	POU6F2_ENST00000464276.2_In_Frame_Ins_p.25_25D>EN|POU6F2_ENST00000559001.1_In_Frame_Ins_p.25_25D>EN|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Ins_p.33_33D>EN			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	33					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GAGAGGTGAGGACAAGGCTGCT	0.525													8	29	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124384893	124384893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr8:124384893delT	ENST00000287394.5	-	3	461	c.354delA	c.(352-354)aaafs	p.K118fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTGCTCTTCTTTTTTTTTAT	0.269													8	141	---	---	---	---					
LOC101928823	101928823	broad.mit.edu	37	11	112332120	112332121	+	RNA	INS	-	-	T	rs111710457		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:112332120_112332121insT	ENST00000528496.1	+	0	231																											CTGATTTTATGTTTTTTTTTTT	0.376													3	3	---	---	---	---					
RNF214	257160	broad.mit.edu	37	11	117152339	117152340	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr11:117152339_117152340insT	ENST00000530849.1	+	9	805_806	c.795_796insT	c.(796-798)ttafs	p.L266fs	RNF214_ENST00000300650.4_Frame_Shift_Ins_p.L421fs|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Frame_Shift_Ins_p.L266fs|RNF214_ENST00000531452.1_Frame_Shift_Ins_p.L421fs			Q8ND24	RN214_HUMAN	ring finger protein 214	421							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GTCATATCCAGTTAGTGAGGAA	0.450													18	155	---	---	---	---					
POU4F1	5457	broad.mit.edu	37	13	79176484	79176486	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr13:79176484_79176486delTGG	ENST00000377208.5	-	2	535_537	c.324_326delCCA	c.(322-327)caccag>cag	p.H108del	RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	108	Poly-His.				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H108delH(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TTCGAGCGCCtggtggtggtggt	0.729													2	4	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061574	38061574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:38061574delT	ENST00000250448.2	-	2	476	c.415delA	c.(415-417)agcfs	p.S139fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.S106fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	139					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GCCATGGGGCTCATGCACGGG	0.741													8	23	---	---	---	---					
PPP1R13B	23368	broad.mit.edu	37	14	104209111	104209111	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr14:104209111delC	ENST00000202556.9	-	10	1482	c.1200delG	c.(1198-1200)gtgfs	p.V400fs	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	400					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				GCACTGGTTTCACGGAAGAGC	0.498													25	97	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)aggfs	p.R150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													17	315	---	---	---	---					
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694																											GGGGGCTCCGGGTAGGGGTTCA	0.609													3	3	---	---	---	---					
RRN3P2	653390	broad.mit.edu	37	16	29113498	29113498	+	RNA	DEL	T	T	-	rs11366120		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:29113498delT	ENST00000564580.1	+	0	1360																											AGGAGGTGGAttttttttttc	0.542													4	9	---	---	---	---					
VAC14	55697	broad.mit.edu	37	16	70817335	70817362	+	Splice_Site	DEL	TTACTCCACTCACATTTTGCGAATCTCT	TTACTCCACTCACATTTTGCGAATCTCT	-			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr16:70817335_70817362delTTACTCCACTCACATTTTGCGAATCTCT	ENST00000261776.5	-	6	950_965	c.690_705delAGAGATTCGCAAAATGTGAGTGGAGTAA	c.(688-705)aaagagattcgcaaaatg>aa	p.KEIRKM230fs		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	230					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R233C(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TTCCTGCCCCTTACTCCACTCACATTTTGCGAATCTCTTTGCCATTGT	0.570													7	43	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465991	59465992	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chr17:59465991_59465992insA	ENST00000589222.1	+	25	2740_2741	c.2672_2673insA	c.(2671-2676)ggaaaafs	p.GK891fs	RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000408905.3_Intron|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						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)			AAAAAAAAAGGAAAAAAAAAAC	0.431													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-SY-A9G5-01A-11D-A38G-08	TCGA-SY-A9G5-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488f81cf-4088-4c47-97b2-818f4b8f4728	314b7027-7607-4ca3-a44e-041deb5da58c	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													4	5	---	---	---	---