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
TNFRSF8	943	broad.mit.edu	37	1	12157239	12157239	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12157239C>T	ENST00000263932.2	+	3	455	c.233C>T	c.(232-234)gCc>gTc	p.A78V	TNFRSF8_ENST00000417814.2_5'UTR	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	78					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATGAGGCCGACCGCTGT	0.582000													9	35					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141762925	141762925	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:141762925C>T	ENST00000389484.3	-	15	3453	c.2482G>A	c.(2482-2484)Gaa>Aaa	p.E828K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	828	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E828K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTCCCATTTTCATCCAAAAGT	0.418000										TSP Lung(27;0.18)			6	27					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487739	248487739	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248487739G>A	ENST00000317965.2	-	1	160	c.132C>T	c.(130-132)atC>atT	p.I44I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			GGAGAACCATGATGGAGTTTC	0.532000													42	122					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96232550	96232550	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:96232550T>A	ENST00000437043.3	+	9	2197	c.1486T>A	c.(1486-1488)Tgg>Agg	p.W496R	ERAP2_ENST00000379904.4_Missense_Mutation_p.W451R|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	496					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TGATGACTTGTGGAGCAGTCT	0.323000													10	28					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544474	10544474	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10544474C>T	ENST00000583535.1	-	19	2180	c.2093G>A	c.(2092-2094)gGt>gAt	p.G698D	MYH3_ENST00000226209.7_Missense_Mutation_p.G698D	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	698	Myosin head-like.				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						CTCCAGGACACCGTTACACCG	0.463000													22	48					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:9546931G>A	ENST00000378429.3	-	6	1637	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_ENST00000353224.5_Missense_Mutation_p.S364L|PAK7_ENST00000378423.1_Missense_Mutation_p.S364L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	364	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S364L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAATAGCCCGATTTGCTTTG	0.562000													54	83					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235950601	235950601	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:235950601G>A	ENST00000389794.3	-	14	4935	c.4761C>T	c.(4759-4761)ttC>ttT	p.F1587F	LYST_ENST00000389793.2_Silent_p.F1587F|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1587					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGCTTGGGAGGAAAATATTCT	0.423000													17	57					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131811727	131811727	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:131811727A>C	ENST00000277475.5	+	5	674	c.488A>C	c.(487-489)gAg>gCg	p.E163A	FAM73B_ENST00000406926.2_Missense_Mutation_p.E163A|FAM73B_ENST00000358369.4_Missense_Mutation_p.E163A			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	163						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AGAGGGATGGAGGAGTCTCTG	0.602000													6	8					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907635	164907635	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:164907635G>A	ENST00000475390.1	-	2	1427	c.984C>T	c.(982-984)tcC>tcT	p.S328S	SLITRK3_ENST00000241274.3_Silent_p.S328S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	328						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GTTTATTTGAGGACTTGTATT	0.478000										HNSCC(40;0.11)			38	94					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175897049	175897049	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:175897049G>A	ENST00000359240.3	+	5	1043	c.373G>A	c.(373-375)Gga>Aga	p.G125R	ADAM29_ENST00000514159.1_Missense_Mutation_p.G125R|ADAM29_ENST00000445694.1_Missense_Mutation_p.G125R|ADAM29_ENST00000404450.4_Missense_Mutation_p.G125R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	125					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GGGTTTTCAAGGAATATTACA	0.428000													8	41					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77657056	77657056	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:77657056C>T	ENST00000461745.1	+	21	4144	c.3244C>T	c.(3244-3246)Ctt>Ttt	p.L1082F	ROBO2_ENST00000487694.3_Missense_Mutation_p.L1098F|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.L1082F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1082					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGTCCAGCCCCTTCCTGGCAC	0.458000													5	25					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97870247	97870247	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:97870247G>A	ENST00000447648.2	-	8	1148	c.849C>T	c.(847-849)atC>atT	p.I283I	TECPR1_ENST00000379795.3_Silent_p.I283I|TECPR1_ENST00000542604.1_Silent_p.I213I			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	283						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGCTCCACGATGGACCAGG	0.612000													5	8					0	0	1	0	0
ASRGL1	80150	broad.mit.edu	37	11	62156693	62156693	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:62156693G>A	ENST00000415229.2	+	5	795	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	ASRGL1_ENST00000535727.1_Missense_Mutation_p.V66I|ASRGL1_ENST00000301776.5_Missense_Mutation_p.V194I	NM_001083926.1	NP_001077395.1	Q7L266	ASGL1_HUMAN	asparaginase like 1	194					asparagine catabolic process via L-aspartate|protein maturation	cytoplasm|microtubule cytoskeleton|nucleus	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	7					L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)	TAATAAAATGGTCGGCCGCGT	0.552000													26	53					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103001419	103001419	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:103001419C>T	ENST00000409599.1	+	8	1126	c.770C>T	c.(769-771)tCg>tTg	p.S257L	IL18R1_ENST00000233957.1_Missense_Mutation_p.S257L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	257	Ig-like C2-type 3.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAAATGGATCGGATCCTAAT	0.313000													5	26					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452559	6452559	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:6452559C>T	ENST00000265983.3	-	10	1371	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	424					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GAGGTACAAGCCGGGACCATT	0.542000													16	54					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782832	80782832	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:80782832G>A	ENST00000466387.1	+	16	2279	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	CTNNA2_ENST00000402739.4_Missense_Mutation_p.E519K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.E519K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E553K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E519K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E198K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E519K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	519					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCACATCTTGGAGGATGTGAA	0.473000													10	31					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	887207	887207	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:887207G>A	ENST00000314167.4	-	9	1058	c.948C>T	c.(946-948)atC>atT	p.I316I	GAK_ENST00000511163.1_Silent_p.I237I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	316					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGGCCGCGATCTCCTGCA	0.667000													13	28					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122830592	122830592	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:122830592A>C	ENST00000245838.8	-	6	477	c.446T>G	c.(445-447)gTt>gGt	p.V149G	THOC2_ENST00000491737.1_Missense_Mutation_p.V34G|THOC2_ENST00000355725.4_Missense_Mutation_p.V149G	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	149					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGATTTTAACTGACTTTTG	0.343000													14	9					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444252	49444252	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:49444252G>A	ENST00000301067.7	-	11	3118	c.3119C>T	c.(3118-3120)tCc>tTc	p.S1040F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGAGCACTGGGAAGGAGGGGA	0.612000													11	33					0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	397656	397656	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:397656G>A	ENST00000331563.2	+	4	1138	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	354					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCGCCAAGAAGCAGGTGA	0.637000													11	25					0	0	1	0	0
OR51S1	119692	broad.mit.edu	37	11	4869718	4869718	+	Missense_Mutation	SNP	G	G	A	rs115882083	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4869718G>A	ENST00000322101.2	-	1	796	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCTTCCAGCGATCCTCTCTG	0.522000													15	27					0	0	1	0	0
RANBP1	5902	broad.mit.edu	37	22	20109898	20109898	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:20109898C>T	ENST00000402752.1	+	3	490	c.264C>T	c.(262-264)ctC>ctT	p.L88L	RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Silent_p.L88L	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN	RAN binding protein 1	88	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding	p.K81fs*27(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					CCATCCGCCTCCTCATGCGGA	0.577000													4	25					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	53893611	53893611	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:53893611G>C	ENST00000373980.4	+	8	1364	c.947G>C	c.(946-948)aGa>aCa	p.R316T	PRKG1_ENST00000401604.2_Missense_Mutation_p.R301T|PRKG1_ENST00000373985.1_Missense_Mutation_p.R289T|PRKG1_ENST00000373975.2_Missense_Mutation_p.R19T	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	301					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAAGATGTGAGAACAGCAAAC	0.328000													9	12					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263384	248263384	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248263384C>T	ENST00000366478.2	+	3	1044	c.707C>T	c.(706-708)gCc>gTc	p.A236V	OR2L13_ENST00000358120.2_Missense_Mutation_p.A236V	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			AGAAAAAAGGCCTTCACCACC	0.453000													23	45					0	0	1	0	0
SUN5	140732	broad.mit.edu	37	20	31583499	31583499	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31583499C>T	ENST00000356173.3	-	8	552	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	SUN5_ENST00000375523.3_Missense_Mutation_p.E129K	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	154					spermatogenesis			p.E154K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCTGGATTTCCCCACTGTGA	0.507000													30	116					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473071	105473071	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:105473071T>G	ENST00000361360.2	+	1	1103	c.1103T>G	c.(1102-1104)cTg>cGg	p.L368R	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	368	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCCTGCAGCTGAGCTTCAAG	0.622000													9	60					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105405096	105405096	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:105405096G>A	ENST00000351513.2	-	8	1491	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	DPYS_ENST00000521601.1_Intron	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	453					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCGTGACACTGAACACTCCGG	0.468000													85	119					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015541	151015541	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:151015541C>T	ENST00000295294.7	+	5	906	c.297C>T	c.(295-297)ttC>ttT	p.F99F	BNIPL_ENST00000368931.3_Silent_p.F181F	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	181					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|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)			GGAGGGTGTTCCGAATGGGAC	0.547000													7	26					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227920819	227920819	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:227920819C>T	ENST00000396625.3	-	30	2765	c.2558G>A	c.(2557-2559)gGg>gAg	p.G853E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G853E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	853	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGTCCTTTCCCACCTGGAGC	0.582000													14	41					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671390	31671390	+	Silent	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31671390A>G	ENST00000375483.3	+	3	387	c.387A>G	c.(385-387)gcA>gcG	p.A129A		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	129						cytoplasm|extracellular region	lipid binding										CCGAGAATGCATATGGAGGCC	0.607000													15	80					0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925445	27925445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:27925445C>T	ENST00000244623.1	+	1	427	c.427C>T	c.(427-429)Cag>Tag	p.Q143*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCTGCCTCCAGTTGGCAGC	0.483000													19	80					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:22473063C>T	ENST00000557788.2	-	0	207																											TGATAGATTTCCCCAATCCAC	0.567000													22	175					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686075	100686075	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:100686075C>T	ENST00000306151.4	+	3	11442	c.11378C>T	c.(11377-11379)tCa>tTa	p.S3793L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3793	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGCAGTTCATCTCCTACA	0.478000													11	45					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216692521	216692521	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216692521G>A	ENST00000391890.3	-	8	1574	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	ESRRG_ENST00000361525.3_Missense_Mutation_p.L346F|ESRRG_ENST00000366940.2_Missense_Mutation_p.L346F|ESRRG_ENST00000360012.3_Missense_Mutation_p.L346F|ESRRG_ENST00000463665.1_Missense_Mutation_p.L307F|ESRRG_ENST00000366938.2_Missense_Mutation_p.L346F|ESRRG_ENST00000493748.1_Missense_Mutation_p.L346F|ESRRG_ENST00000487276.1_Missense_Mutation_p.L346F|ESRRG_ENST00000493603.1_Missense_Mutation_p.L346F|ESRRG_ENST00000359162.2_Missense_Mutation_p.L346F|ESRRG_ENST00000366937.1_Missense_Mutation_p.L381F|ESRRG_ENST00000408911.3_Missense_Mutation_p.L369F|ESRRG_ENST00000361395.2_Missense_Mutation_p.L346F	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	369					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATAGCTTTGAGGGTGACAAAT	0.368000													7	18					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218680	47218680	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:47218680G>A	ENST00000300404.2	+	2	325	c.266G>A	c.(265-267)gGa>gAa	p.G89E	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.G29E|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.G3E	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	89					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTATGTTCGGAAGCATGTTC	0.493000													25	72					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922683	104922683	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:104922683C>T	ENST00000262231.10	+	3	1431	c.1183C>T	c.(1183-1185)Cct>Tct	p.P395S	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	618					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGGTCTGAACCTCAGATTAA	0.468000										HNSCC(12;0.0054)			30	26					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227385	149227385	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:149227385C>T	ENST00000407073.1	+	9	2870	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	MBD5_ENST00000404807.1_Missense_Mutation_p.P625S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	625						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACCATGTTCCCTCCTACTGC	0.483000													21	73					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57955646	57955646	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:57955646C>T	ENST00000325752.3	-	5	864	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	TUBD1_ENST00000394239.3_Missense_Mutation_p.R196Q|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_5'UTR|TUBD1_ENST00000376094.4_Missense_Mutation_p.R196Q|TUBD1_ENST00000592426.1_Missense_Mutation_p.R196Q|TUBD1_ENST00000340993.6_Missense_Mutation_p.R196Q	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	196					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GTCTGAAGATCGGTACAAGTG	0.378000													16	42					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187158058	187158058	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:187158058C>T	ENST00000264690.6	+	5	639	c.452C>T	c.(451-453)tCa>tTa	p.S151L	KLKB1_ENST00000513864.1_Missense_Mutation_p.S151L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	151	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CAGTTTTTTTCATATGCCACG	0.413000													8	22					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52774001	52774001	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:52774001G>A	ENST00000216862.3	-	10	1753	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S	CYP24A1_ENST00000395955.3_Intron|CYP24A1_ENST00000395954.3_Missense_Mutation_p.P312S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	454					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ACGCCAAATGGAAGATGCGCA	0.423000													14	48					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46177967	46177967	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:46177967C>T	ENST00000590918.1	+	7	615	c.516C>T	c.(514-516)atC>atT	p.I172I	GIPR_ENST00000263281.3_Silent_p.I172I|GIPR_ENST00000304207.8_Silent_p.I136I	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	172					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GAAACTATATCCACATCAACC	0.557000													7	22					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907746	12907746	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12907746G>A	ENST00000317869.6	-	2	622	c.397C>T	c.(397-399)Cct>Tct	p.P133S		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATGGGAGGAGGAGGAGGTACA	0.488000													24	68					0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66210372	66210372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:66210372C>T	ENST00000409699.2	-	16	2190	c.2018G>A	c.(2017-2019)gGg>gAg	p.G673E	MEGF11_ENST00000360698.4_Missense_Mutation_p.G673E|MEGF11_ENST00000422354.1_Missense_Mutation_p.G673E|MEGF11_ENST00000395625.2_Missense_Mutation_p.G598E|MEGF11_ENST00000288745.3_Missense_Mutation_p.G598E|MEGF11_ENST00000395614.1_5'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	673	EGF-like 11.					basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGCAGGTCCCGTTGTTGGC	0.617000													14	27					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10408543C>T	ENST00000226207.5	-	21	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458000													16	52					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15839037	15839037	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:15839037G>C	ENST00000338282.6	-	20	2575	c.2469C>G	c.(2467-2469)tgC>tgG	p.C823W	MYH11_ENST00000576790.1_Missense_Mutation_p.C823W|MYH11_ENST00000396324.3_Missense_Mutation_p.C830W|MYH11_ENST00000452625.2_Missense_Mutation_p.C830W|MYH11_ENST00000300036.5_Missense_Mutation_p.C823W	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	823					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTAGGCGGCGCAGTTCCTCT	0.627000			T	CBFB	AML								25	50					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184107175	184107175	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:184107175G>A	ENST00000204604.1	+	23	3079	c.2833G>A	c.(2833-2835)Gat>Aat	p.D945N	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Missense_Mutation_p.D487N|CHRD_ENST00000348986.3_Missense_Mutation_p.D905N|CHRD_ENST00000450923.1_Missense_Mutation_p.D944N	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	945					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GACCAGAACTGATCCAGAGCT	0.607000													5	16					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	988837	988837	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:988837C>T	ENST00000315939.6	+	11	3115	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	WNK1_ENST00000340908.4_Silent_p.F417F|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Silent_p.F1322F|WNK1_ENST00000537687.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	824					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGCTCATTTCCTTCCAGTGG	0.542000													12	54					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61238932	61238932	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:61238932C>A	ENST00000316752.6	-	2	355	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	PUS10_ENST00000407787.1_Missense_Mutation_p.D32Y|PUS10_ENST00000398658.2_Missense_Mutation_p.D32Y	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	32					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GCATGAAAATCCACACCACAG	0.348000													5	10					0.184627	0.185204	1	1	0
MUC17	140453	broad.mit.edu	37	7	100682687	100682687	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:100682687G>T	ENST00000306151.4	+	3	8054	c.7990G>T	c.(7990-7992)Gtg>Ttg	p.V2664L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2664	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGGACACTTGTGACCACTTC	0.463000													46	196					3.7052e-28	3.7999e-28	1	1	0
KRT10	3858	broad.mit.edu	37	17	38976675	38976675	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:38976675C>T	ENST00000269576.5	-	4	877	c.867_splice	c.e4-1	p.E290_splice	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	290	Coil 1B.|Gly-rich.|Rod.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TCTTTCATTTCCTGTTTGAGG	0.428000													12	54					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:106810978G>A	ENST00000407775.2	+	7	1016	c.766G>A	c.(766-768)Ggc>Agc	p.G256S	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G124S|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G124S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	256					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.G256C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGTCCTGTGGCATCTGGTA	0.473000													20	23					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313227	54313227	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54313227G>A	ENST00000324134.6	-	3	1854	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	NLRP12_ENST00000351894.4_Silent_p.F562F|NLRP12_ENST00000354278.3_Silent_p.F562F|NLRP12_ENST00000391775.3_Silent_p.F562F|NLRP12_ENST00000391773.1_Silent_p.F562F|NLRP12_ENST00000345770.5_Silent_p.F562F|NLRP12_ENST00000391772.1_Silent_p.F562F|NLRP12_ENST00000535162.1_Silent_p.F562F	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	562					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)		GTCCAAACAGGAAGCGGCTGG	0.607000													17	63					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48604605	48604605	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:48604605C>T	ENST00000328333.8	-	109	8172	c.8065G>A	c.(8065-8067)Ggg>Agg	p.G2689R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2657R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2689	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.G2689W(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTGGCTGCCCGTCAAAGCCT	0.607000													13	69					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113636	66113636	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:66113636C>T	ENST00000311181.4	-	2	1278	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	378					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TTCAACGCTTCTTTGAAGCCC	0.488000													24	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179585787	179585787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179585787C>T	ENST00000589042.1	-	79	23183	c.22959G>A	c.(22957-22959)tgG>tgA	p.W7653*	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.W6409*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W7336*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7336	Ig-like 58.						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)			TGTTGTATTTCCAACTTTCAT	0.413000													28	46					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843130	137843130	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:137843130C>T	ENST00000236709.3	-	3	1200	c.999G>A	c.(997-999)ggG>ggA	p.G333G		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	333					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GACCCAGCTCCCCAGTCACTG	0.493000													21	43					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488953	61488953	+	Silent	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:61488953C>G	ENST00000335351.3	-	4	1124	c.1032G>C	c.(1030-1032)cgG>cgC	p.R344R	TCFL5_ENST00000217162.5_Silent_p.R296R	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GCATTCTACTCCGATTCCTCT	0.443000													8	66					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688787	26688787	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:26688787G>A	ENST00000529632.2	+	2	706	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SEZ6L_ENST00000404234.3_Silent_p.P170P|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.P170P|SEZ6L_ENST00000248933.6_Silent_p.P170P|SEZ6L_ENST00000360929.3_Silent_p.P170P|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	170						endoplasmic reticulum membrane|integral to membrane		p.P170P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGGGGACCCGGACCCCATCG	0.667000													17	41					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99251220	99251220	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:99251220C>T	ENST00000268035.6	+	2	1135	c.524C>T	c.(523-525)cCa>cTa	p.P175L	IGF1R_ENST00000558762.1_Missense_Mutation_p.P175L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	175					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P175Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AATAAGCCCCCAAAGGAATGT	0.517000													20	47					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179634957	179634957	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179634957G>A	ENST00000589042.1	-	36	8695	c.8471C>T	c.(8470-8472)cCa>cTa	p.P2824L	TTN_ENST00000460472.2_Missense_Mutation_p.P2778L|TTN_ENST00000342175.6_Missense_Mutation_p.P2778L|TTN_ENST00000342992.6_Missense_Mutation_p.P2824L|TTN_ENST00000591111.1_Missense_Mutation_p.P2824L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.P2824L|TTN_ENST00000359218.5_Missense_Mutation_p.P2778L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2562							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)			CCATTTTACTGGAACAGTGTC	0.428000													23	56					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													5	9					0	0	1	0	0
NDUFC2	4718	broad.mit.edu	37	11	77784179	77784179	+	Missense_Mutation	SNP	G	G	A	rs147426758		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:77784179G>A	ENST00000281031.4	-	2	649	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	NDUFC2_ENST00000534029.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.R59C|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2_ENST00000528164.1_Missense_Mutation_p.R59C|NDUFC2_ENST00000527806.1_Missense_Mutation_p.R59C|NDUFC2_ENST00000525085.1_Intron	NM_001204055.1|NM_004549.5	NP_001190984.1|NP_004540.1			NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa											large_intestine(1)|lung(2)|prostate(1)	4	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGAAGCTGGCGATGCAAACCT	0.388000													11	34					0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375616	85375616	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:85375616G>A	ENST00000527447.1	-	1	530	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Silent_p.L20L|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	102					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCCAGACAGAAAGTCCATA	0.711000													30	79					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241682374	241682374	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:241682374G>A	ENST00000498729.2	-	34	3858	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	KIF1A_ENST00000320389.7_Silent_p.F1103F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1103					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TGACCCGAGGGAAGTGGCGGC	0.657000													4	19					0	0	1	0	0
ABI3	51225	broad.mit.edu	37	17	47295184	47295184	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:47295184G>A	ENST00000225941.1	+	3	867	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ABI3_ENST00000419580.2_Silent_p.K117K	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512.1	Q9P2A4	ABI3_HUMAN	ABI family, member 3	123					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCGGCCAGAAGGTCATCGCCC	0.597000										HNSCC(55;0.14)			19	54					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450545	105450545	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:105450545G>A	ENST00000337685.2	+	5	1905	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.E374K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.E374K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	374										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGATGATGAGGAAGACGAAGA	0.383000													5	4					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915969	39915969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:39915969C>T	ENST00000458508.2	+	20	3790	c.3664C>T	c.(3664-3666)Cag>Tag	p.Q1222*	PLEKHG2_ENST00000409794.3_3'UTR|PLEKHG2_ENST00000409797.2_3'UTR|PLEKHG2_ENST00000425673.1_3'UTR			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	0					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			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)			GCAAGGATTTCAGCCAGATGC	0.567000													6	17					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066532	9066532	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9066532G>A	ENST00000397910.4	-	3	21117	c.20914C>T	c.(20914-20916)Ctt>Ttt	p.L6972F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6974	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						ACTTCTGAAAGAACAATACTT	0.463000													29	54					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466086	220466086	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:220466086C>T	ENST00000456909.1	+	3	281	c.191C>T	c.(190-192)tCc>tTc	p.S64F	STK11IP_ENST00000459692.1_3'UTR|STK11IP_ENST00000295641.10_Missense_Mutation_p.S75F			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	75					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCCTCCCATCCTGCC	0.567000													8	34					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31323763	31323763	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:31323763C>T	ENST00000269197.5	+	12	3951	c.3951C>T	c.(3949-3951)tcC>tcT	p.S1317S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1317	Ser-rich.				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						TATCAAGCTCCATGGATGATA	0.458000													30	54					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39502899	39502899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:39502899G>A	ENST00000265707.5	+	11	997	c.952G>A	c.(952-954)Gct>Act	p.A318T	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.A294T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	318	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGTTATTATAGCTCAACTGCT	0.328000													13	20					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021866	120021866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:120021866C>T	ENST00000379551.2	+	3	665	c.308C>T	c.(307-309)cCt>cTt	p.P103L	PRR16_ENST00000407149.2_Missense_Mutation_p.P126L|PRR16_ENST00000446965.1_Missense_Mutation_p.P56L|PRR16_ENST00000505123.1_Missense_Mutation_p.P56L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCACCACCTCCTCCAAGGTTG	0.512000													15	56					0	0	1	0	0
CAMKMT	79823	broad.mit.edu	37	2	44600005	44600005	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:44600005C>G	ENST00000378494.3	+	2	333	c.289C>G	c.(289-291)Cct>Gct	p.P97A	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000403853.3_Missense_Mutation_p.P97A|CAMKMT_ENST00000402247.1_Missense_Mutation_p.P97A|CAMKMT_ENST00000407131.1_Missense_Mutation_p.P97A	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	97						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						CATCTTCTGTCCTGAATACAG	0.333000													8	17					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37414178	37414178	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:37414178C>T	ENST00000373451.4	+	4	561	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		133	G-patch.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding	p.R133W(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						TCTGACACTCCGGGGCTTTGA	0.522000													29	124					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166132	19166132	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:19166132G>A	ENST00000375371.3	-	6	2502	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	827					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TCATGCTGTTGAAGTAGGCGG	0.622000													7	19					0	0	1	0	0
LOC647264	647264	broad.mit.edu	37	13	64321195	64321195	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:64321195T>A	ENST00000453638.2	+	1	262	c.262T>A	c.(262-264)Tat>Aat	p.Y88N																	endometrium(2)|lung(1)|urinary_tract(1)	4						tggctgtggctatggaactgg	0.572000													14	51					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910419	13910419	+	Missense_Mutation	SNP	C	C	T	rs142084255	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:13910419C>T	ENST00000294489.6	+	1	460	c.119C>T	c.(118-120)cCa>cTa	p.P40L	PDPN_ENST00000376057.4_Missense_Mutation_p.P40L			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-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;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCGGCCCCCCCACCGTCGCGC	0.642000													10	23					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7607896	7607896	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:7607896C>T	ENST00000221249.6	+	16	1848	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	PNPLA6_ENST00000600737.1_Missense_Mutation_p.P512S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P473S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P521S|PNPLA6_ENST00000545201.2_Intron	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	512					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCCCAGGACCCCTCCCTCCT	0.657000													16	39					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824280	54824280	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:54824280C>T	ENST00000243911.2	+	1	493	c.381C>T	c.(379-381)tcC>tcT	p.S127S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCATCTCCCTGGTGGCCT	0.557000													30	40					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811255	123811255	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:123811255C>T	ENST00000307033.2	+	1	1006	c.932C>T	c.(931-933)cCc>cTc	p.P311L		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P311L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTATTGGTCCCCTGGAGCAC	0.502000													15	36					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457290	25457290	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:25457290C>T	ENST00000264709.3	-	23	2935		c.e23-1		DNMT3A_ENST00000321117.5_Splice_Site|DNMT3A_ENST00000402667.1_Splice_Site|DNMT3A_ENST00000380746.4_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			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)					ACCAAATACCCTGGGGGAGAA	0.627000			"""Mis, F, N, S"""		AML								9	20					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31015394	31015394	+	Missense_Mutation	SNP	G	G	A	rs146944568	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:31015394G>A	ENST00000409316.1	+	7	621	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.V295V|GHRHR_ENST00000409904.3_Silent_p.V231V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ATTTCCAGGTGAACTTTGGGC	0.517000													13	22					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039287	248039287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248039287G>A	ENST00000366481.3	+	6	1005	c.957G>A	c.(955-957)tgG>tgA	p.W319*	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	319	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGAACCATGGAGGGATGTCC	0.582000													9	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596173	179596173	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179596173C>T	ENST00000589042.1	-	59	17544	c.17320G>A	c.(17320-17322)Gat>Aat	p.D5774N	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4530N|TTN_ENST00000591111.1_Missense_Mutation_p.D5457N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5457	Ig-like 38.						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)			CTTATATTATCGTCTTCAGTG	0.478000													19	53					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101593780	101593780	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:101593780C>T	ENST00000310954.6	-	7	1426	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	380					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAGCATTCTTCATCAAAT	0.284000													4	18					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43759319	43759319	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:43759319C>T	ENST00000458276.2	+	6	1053	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	310					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCATCCAGTCCTTACGACCAC	0.448000													19	44					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115958993	115958993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:115958993C>T	ENST00000251864.2	+	4	599	c.446C>T	c.(445-447)tCc>tTc	p.S149F	TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Missense_Mutation_p.S149F|TDRD1_ENST00000369281.2_Missense_Mutation_p.S149F|TDRD1_ENST00000369282.1_Missense_Mutation_p.S149F	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	149					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)		GTCGAGAATTCCTTGTCCATA	0.408000													14	29					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93127688	93127688	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:93127688G>A	ENST00000298050.3	+	10	1205	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	CCDC67_ENST00000525646.1_Missense_Mutation_p.E111K	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	369										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AATGAGGAATGAAATCTCTGA	0.398000													3	6					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41452084	41452084	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr21:41452084C>T	ENST00000400454.1	-	25	4892	c.4415G>A	c.(4414-4416)gGa>gAa	p.G1472E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1472					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTACCTTTTCCTAAGGTCTT	0.418000													25	90					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797030	57797030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:57797030C>T	ENST00000309042.7	+	4	2320	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	669	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTGCTGCCTCCCGTGGAGCCT	0.607000													9	30					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111769591	111769591	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:111769591C>T	ENST00000452346.2	+	9	1167	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	TMPRSS7_ENST00000419127.1_Silent_p.S262S			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	388	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATTACCCGAGCTACTATCCTC	0.388000													28	87					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138650285	138650285	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:138650285G>A	ENST00000298480.5	+	10	859	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	KCNT1_ENST00000487664.1_Missense_Mutation_p.R214Q|KCNT1_ENST00000488444.2_Missense_Mutation_p.R243Q|KCNT1_ENST00000263604.3_Missense_Mutation_p.R243Q|KCNT1_ENST00000490355.2_Missense_Mutation_p.R243Q|KCNT1_ENST00000486577.2_Missense_Mutation_p.R223Q|KCNT1_ENST00000371757.2_Missense_Mutation_p.R262Q|KCNT1_ENST00000491806.2_Missense_Mutation_p.R229Q			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	262						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCATCCTGCGGACACAGTCA	0.597000													18	28					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52271993	52271993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:52271993C>T	ENST00000598776.1	+	2	854	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F	FPR2_ENST00000598953.1_Missense_Mutation_p.L28F|FPR2_ENST00000340023.6_Missense_Mutation_p.L28F	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	28					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCTGCGGATCCTCCCATTGGT	0.542000													11	35					0	0	1	0	0
TTLL8	164714	broad.mit.edu	37	22	50488560	50488560	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:50488560C>T	ENST00000266182.6	-	2	167	c.168G>A	c.(166-168)gaG>gaA	p.E56E	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.E56E					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CGCCTTCATCCTCGACATCCG	0.627000													6	24					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25119215	25119215	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:25119215G>A	ENST00000332271.5	-	19	2682	c.2266C>T	c.(2266-2268)Cta>Tta	p.L756L	PIWIL3_ENST00000527701.1_Silent_p.L638L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.L638L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	756	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATGAAAGCTAGAGTGAAACTT	0.343000													7	14					0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114177656	114177656	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:114177656C>T	ENST00000393081.1	+	14	1578	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F	ACSL5_ENST00000354273.4_Missense_Mutation_p.S424F|RP11-324O2.6_ENST00000424422.1_RNA|ACSL5_ENST00000354655.4_Missense_Mutation_p.S424F|ACSL5_ENST00000356116.1_Missense_Mutation_p.S480F|ACSL5_ENST00000369410.3_Missense_Mutation_p.S206F|ACSL5_ENST00000433418.1_Missense_Mutation_p.S424F	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	424					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCCCCCATGTCCACTTCAGTC	0.473000													18	19					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929509	121929509	+	Silent	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:121929509C>G	ENST00000265922.3	-	8	2600	c.2139G>C	c.(2137-2139)ggG>ggC	p.G713G	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		713					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGGGGTTTCCCCGGGGCCA	0.552000													20	28					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258276	1258276	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:1258276C>T	ENST00000447027.1	+	25	3246	c.3188C>T	c.(3187-3189)tCc>tTc	p.S1063F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S1060F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1060	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCTCCCCCTCCTGCCCGGAC	0.652000													6	21					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420931	55420931	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:55420931C>T	ENST00000242994.3	+	2	1086	c.708C>T	c.(706-708)tcC>tcT	p.S236S		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	236					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						GAGAATCGTCCTTTGGGAGCC	0.522000													13	39					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160977073	160977073	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:160977073C>T	ENST00000447678.1	-	31	5077	c.4957G>A	c.(4957-4959)Gaa>Aaa	p.E1653K	LPA_ENST00000316300.5_Missense_Mutation_p.E1653K	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4161	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGTAGTTTTCTGGGGTCCTC	0.458000													11	30					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34492564	34492564	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:34492564C>A	ENST00000241052.4	+	12	1583	c.1494C>A	c.(1492-1494)gaC>gaA	p.D498E	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	498					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CTCTTCTGGACAAGTACAATG	0.502000													25	73					9.04412e-07	9.20178e-07	1	1	0
SACS	26278	broad.mit.edu	37	13	23914670	23914670	+	Silent	SNP	G	G	A	rs143287019	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:23914670G>A	ENST00000382298.3	-	10	3933	c.3345C>T	c.(3343-3345)gtC>gtT	p.V1115V	SACS_ENST00000382292.3_Silent_p.V1115V|SACS_ENST00000402364.1_Silent_p.V365V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1115					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)		GACAAGCACCGACCTGTAAGG	0.378000													31	78					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60813772	60813772	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:60813772G>A	ENST00000544856.2	-	7	1832	c.1454C>T	c.(1453-1455)cCa>cTa	p.P485L	RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000311269.5_Missense_Mutation_p.P486L|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.P524L|MARCH10_ENST00000456609.2_Missense_Mutation_p.P486L			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	486							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAGTCTACTGGAATATCATC	0.423000													13	36					0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935268	151935268	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:151935268G>A	ENST00000393902.3	-	3	1466	c.899C>T	c.(898-900)tCc>tTc	p.S300F	MAGEA3_ENST00000370278.3_Missense_Mutation_p.S300F			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	300	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGGTAGGAAATGTGAGG	0.557000													28	25					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068459	126068459	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:126068459C>T	ENST00000299308.3	+	5	1349	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	447						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)		CTGTCAAAGTCGTGGGGGTCC	0.498000													48	111					0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761311	55761311	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:55761311G>A	ENST00000278409.1	-	1	790	c.791C>T	c.(790-792)tCc>tTc	p.S264F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGAGTAGCTGGAACTAGGTCT	0.498000													9	28					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440892	121440892	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:121440892C>T	ENST00000260197.7	+	23	3379	c.3250C>T	c.(3250-3252)Cgc>Tgc	p.R1084C	SORL1_ENST00000525532.1_Missense_Mutation_p.R28C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1084	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAACCAGTATCGCTGCAGCAA	0.493000													10	31					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160128	132160128	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:132160128A>C	ENST00000511190.1	-	6	2590	c.2121T>G	c.(2119-2121)ttT>ttG	p.F707L	USP26_ENST00000370832.1_Missense_Mutation_p.F707L|USP26_ENST00000406273.1_Missense_Mutation_p.F707L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	707					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CAAAAGCTACAAACTTACTGG	0.373000													19	9					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655812	138655812	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:138655812C>T	ENST00000251691.4	+	33	5995	c.5829C>T	c.(5827-5829)ttC>ttT	p.F1943F		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1943					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGCCCTCCTTCCAGTCCGAGT	0.582000													5	17					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279581	73279581	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:73279581C>T	ENST00000320531.2	+	2	367	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	111						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGGCCTGGGCCTGGCCTTGCT	0.627000													10	46					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324366	7324366	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:7324366C>T	ENST00000318881.6	+	2	479	c.242C>T	c.(241-243)cCg>cTg	p.P81L	SYT9_ENST00000396716.2_Missense_Mutation_p.P49L	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	81						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGCTGGGTTCCGTGGCGAGAA	0.547000													17	55					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413250	24413250	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:24413250G>A	ENST00000330966.7	-	15	1847	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V	MYOM3_ENST00000329601.7_Missense_Mutation_p.A561V|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.A561V|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	561	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCAGAACGGCGAATCTCGG	0.552000													13	48					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042636	74042636	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:74042636G>A	ENST00000409561.1	+	3	1407	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	429										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GAGGACCAAGGGATATTTGAA	0.478000													5	15					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883650	89883650	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:89883650G>A	ENST00000534061.1	+	5	714	c.483_splice	c.e5-1	p.G162_splice	NAALAD2_ENST00000525171.1_Splice_Site_p.G162_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.G162_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.G162_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	162					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCCCTATAGGGAGATCTTGT	0.303000													5	14					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241395	3241395	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3241395C>T	ENST00000217939.6	-	5	2485	c.2331G>A	c.(2329-2331)caG>caA	p.Q777Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	777						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCGGATTAATCTGTTTGTTTG	0.448000													14	23					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133374286	133374286	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:133374286C>T	ENST00000260810.5	-	6	721	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	197	BRCT 2.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAAAATAGGACACTTGAAATC	0.333000								Other conserved DNA damage response genes					5	13					0	0	1	0	0
MRGPRF	116535	broad.mit.edu	37	11	68773055	68773055	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:68773055G>A	ENST00000309099.6	-	3	1105	c.723C>T	c.(721-723)atC>atT	p.I241I	MRGPRF_ENST00000441623.1_Silent_p.I241I	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	241						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCATGGCCAGGATGACGTGGT	0.647000													3	7					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856182	62856182	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:62856182G>A	ENST00000584306.1	-	11	4612	c.4082C>T	c.(4081-4083)tCc>tTc	p.S1361F	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.S338F|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.S479F|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.S399F|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.S1361F	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1361						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTCTCTTAAGGATGAAAAAGC	0.398000													16	49					0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	347255	347255	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:347255G>A	ENST00000400256.3	-	5	574	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	123					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GTAATCTCACGAAGTTGCTGA	0.463000													19	40					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:73015526G>A	ENST00000261180.4	+	15	2631	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	845					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCAGCAACAGGAACAGGTAAA	0.393000													5	24					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541573	10541573	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10541573G>A	ENST00000583535.1	-	27	3603	c.3516C>T	c.(3514-3516)ttC>ttT	p.F1172F	MYH3_ENST00000226209.7_Silent_p.F1172F	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1172					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						GCAGCTTCAGGAACTCCGCCT	0.652000													19	39					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52370139	52370139	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:52370139C>T	ENST00000356297.4	-	9	1001	c.901G>A	c.(901-903)Ggt>Agt	p.G301S	PXDNL_ENST00000543296.1_Missense_Mutation_p.G301S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	301	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGATAGACACCTTGGTCTGAC	0.443000													46	45					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26177195	26177195	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:26177195G>A	ENST00000264712.3	-	4	2409	c.1830C>T	c.(1828-1830)atC>atT	p.I610I	KIF3C_ENST00000405914.1_Silent_p.I610I	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	610					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCACGCGGATATACTCAT	0.632000													14	24					0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56363619	56363619	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:56363619C>T	ENST00000348428.3	+	3	656	c.398C>T	c.(397-399)cCa>cTa	p.P133L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.P133L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	133	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACTGTAAACCCAGAGTCAAAG	0.328000			T	BIRC3	MALT								4	6					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10397142	10397142	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:10397142C>T	ENST00000377086.1	+	30	3342	c.3140C>T	c.(3139-3141)tCg>tTg	p.S1047L	KIF1B_ENST00000263934.6_Missense_Mutation_p.S1001L|KIF1B_ENST00000377081.1_Missense_Mutation_p.S1047L			O60333	KIF1B_HUMAN	kinesin family member 1B	1047					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGACTTTTCGTCTGTTGCA	0.438000													36	108					0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35219318	35219318	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:35219318G>A	ENST00000156471.5	-	13	1261	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	346						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAGAGTTCAGGAAAATGTGCA	0.313000													4	17					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92171010	92171010	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:92171010G>A	ENST00000256343.3	-	7	658	c.502C>T	c.(502-504)Cca>Tca	p.P168S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	168					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)				TCACTTTCTGGAATCACATCC	0.418000													13	32					0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18054916	18054916	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:18054916C>T	ENST00000250018.2	-	3	869	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TPH1_ENST00000341556.2_Missense_Mutation_p.E103K	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	103					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GGAACAGTTTCCATACCTGTA	0.318000													21	55					0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128111773	128111773	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:128111773C>T	ENST00000470056.1	+	18	3353	c.3193C>T	c.(3193-3195)Ccg>Tcg	p.P1065S	GAPVD1_ENST00000312123.9_Missense_Mutation_p.P1071S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P1084S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P1110S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P1119S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P1044S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P1092S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P1110S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1110					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCAGCCCACCCGCAGGATTC	0.483000													8	21					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415274	121415274	+	Missense_Mutation	SNP	G	G	A	rs147482666		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:121415274G>A	ENST00000393667.3	-	13	4206	c.4096C>T	c.(4096-4098)Cat>Tat	p.H1366Y	GOLGB1_ENST00000340645.5_Missense_Mutation_p.H1361Y	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1361					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCAGCTTCATGGGATACTGTC	0.393000													20	89					0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:69651614C>T	ENST00000435070.2	+	5	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	208	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542000													19	53					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58495427	58495427	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:58495427C>T	ENST00000357552.3	-	5	509	c.284G>A	c.(283-285)gGa>gAa	p.G95E	SYCP2_ENST00000371001.2_Missense_Mutation_p.G95E|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	95					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGTATTAGTCCTTGTTTTAT	0.303000													3	7					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583661	24583661	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:24583661A>C	ENST00000358321.3	+	12	2275	c.2014A>C	c.(2014-2016)Aac>Cac	p.N672H		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	672					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GACCACCCTCAACCCCAGCCT	0.592000													22	34					0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617140	111617140	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:111617140C>T	ENST00000374667.3	-	1	2099	c.1071G>A	c.(1069-1071)agG>agA	p.R357R		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	357						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGCTCAGCTCCCTCTGGAAGC	0.677000													23	26					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223799336	223799336	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:223799336G>A	ENST00000357430.3	+	16	2467	c.1936G>A	c.(1936-1938)Gag>Aag	p.E646K	ACSL3_ENST00000392066.3_Missense_Mutation_p.E646K	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	646					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	AGGGACTTGGGAGGAGCTGTG	0.368000			T	ETV1	prostate								9	9					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053375	60053375	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:60053375C>T	ENST00000505959.1	-	10	1084	c.558G>A	c.(556-558)aaG>aaA	p.K186K	ELOVL7_ENST00000438340.1_Silent_p.K199K|ELOVL7_ENST00000425382.1_Silent_p.K199K|ELOVL7_ENST00000508821.1_Silent_p.K199K			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	199					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ACCACAAATACTTCTGGTAGG	0.388000													5	27					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180030280	180030280	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:180030280C>T	ENST00000261937.6	-	30	4082	c.4004G>A	c.(4003-4005)aGc>aAc	p.S1335N		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	0					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)	CCCATACTCGCTGTTGTAAAA	0.642000													8	19					0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92821673	92821673	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:92821673G>A	ENST00000394468.2	-	9	1356	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	HEPACAM2_ENST00000440868.1_Silent_p.S406S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P450S|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P415S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	427						integral to membrane		p.P415S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GACCTGCTTGGGATCTAGAAA	0.398000													9	33					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657103	81657103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:81657103C>T	ENST00000550584.2	-	30	3917	c.3622G>A	c.(3622-3624)Gga>Aga	p.G1208R	PPFIA2_ENST00000541017.1_Missense_Mutation_p.G394R|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1196R|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G744R|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1107R|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1187R|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1202R|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1055R|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1103R|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1208R|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1193R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1107										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGCTGATTCCATGTACTTCA	0.443000													8	12					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21695538	21695538	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:21695538G>A	ENST00000328843.6	+	29	5079	c.5048G>A	c.(5047-5049)gGa>gAa	p.G1683E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G1678E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1683	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGGCAGTTGGAATGTACAGC	0.428000									Kartagener syndrome				11	8					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070173	114070173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:114070173G>A	ENST00000462705.1	-	11	1354	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ZBTB20_ENST00000474710.1_Missense_Mutation_p.S251F|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S178F|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S178F|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S178F|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S178F|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S178F	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATTCTGCATGGAGCACGCGTA	0.647000													19	54					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25457289	25457289	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:25457289C>T	ENST00000264709.3	-	23	2935	c.2597_splice	c.e23-1	p.R866_splice	DNMT3A_ENST00000321117.5_Splice_Site_p.R866_splice|DNMT3A_ENST00000402667.1_Splice_Site_p.R643_splice|DNMT3A_ENST00000380746.4_Splice_Site_p.R677_splice	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	866					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			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)					AACCAAATACCCTGGGGGAGA	0.627000			"""Mis, F, N, S"""		AML								9	19					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174550	150174550	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:150174550G>A	ENST00000307271.3	+	5	2254	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	560						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGAAATACGCGATTATGCTGT	0.473000													44	32					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124267017	124267017	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124267017G>A	ENST00000354597.3	-	1	247	c.231C>T	c.(229-231)ttC>ttT	p.F77F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		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;0.0277)		TTTTGGGAGTGAAAACAGAGG	0.368000													12	26					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114837342	114837342	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:114837342C>T	ENST00000310346.4	-	4	1004	c.338G>A	c.(337-339)aGa>aAa	p.R113K	TBX5_ENST00000526441.1_Missense_Mutation_p.R113K|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.R63K|TBX5_ENST00000405440.2_Missense_Mutation_p.R113K	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	113					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTGTATCTGTGATCGTC	0.463000													29	79					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347093	48347093	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:48347093C>T	ENST00000319856.4	+	1	622	c.601C>T	c.(601-603)Cac>Tac	p.H201Y		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTGATCAATCACTTTGCCTG	0.517000													11	58					0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156555517	156555517	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:156555517C>T	ENST00000368236.3	+	9	1505	c.1469C>T	c.(1468-1470)cCa>cTa	p.P490L	TTC24_ENST00000495690.1_3'UTR|TTC24_ENST00000368237.3_Missense_Mutation_p.P490L	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	490							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGTTTCCTTCCAGGCACAGTG	0.502000													18	35					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207641906	207641906	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:207641906C>T	ENST00000367057.3	+	3	669	c.480C>T	c.(478-480)atC>atT	p.I160I	CR2_ENST00000458541.2_Silent_p.I160I|CR2_ENST00000367059.3_Silent_p.I160I|CR2_ENST00000485707.1_3'UTR|CR2_ENST00000367058.3_Silent_p.I160I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	160	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCCTATGATCCACAATGGAC	0.433000													8	37					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113407510	113407510	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:113407510C>T	ENST00000228928.7	+	15	3381	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1068	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CACATCTGCCCTGTGCTGCAT	0.612000													4	12					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167023697	167023697	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:167023697C>T	ENST00000392766.2	-	17	1799	c.1459G>A	c.(1459-1461)Gat>Aat	p.D487N	ZBBX_ENST00000307529.5_Missense_Mutation_p.D487N|ZBBX_ENST00000455345.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D487N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D458N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	487						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAATACACATCAGGATCCACG	0.289000													6	11					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249330	44249330	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:44249330G>A	ENST00000262419.6	-	2	650	c.180C>T	c.(178-180)agC>agT	p.S60S	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Silent_p.S60S|KANSL1_ENST00000575318.1_Silent_p.S60S|KANSL1_ENST00000574590.1_Silent_p.S60S|KANSL1_ENST00000572904.1_Silent_p.S60S	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	60						MLL1 complex	protein binding										GGAAATCTAGGCTGGGATCCT	0.488000													19	141					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57110376	57110376	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:57110376G>A	ENST00000454682.1	-	3	5219	c.4938C>T	c.(4936-4938)tcC>tcT	p.S1646S	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGTCTTTGAGGGAGGAAGGAG	0.572000			T	BCL6	NHL								6	16					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139791802	139791802	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:139791802C>T	ENST00000303045.6	-	14	2100	c.1654G>A	c.(1654-1656)Gag>Aag	p.E552K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E552K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	552	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCTGGCTCCCCCTGAACA	0.622000										HNSCC(7;0.00092)			27	77					0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128725298	128725298	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:128725298C>T	ENST00000373487.4	+	9	1273	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Missense_Mutation_p.T302I|PBX3_ENST00000342287.5_Silent_p.Y339Y|PBX3_ENST00000373489.5_Missense_Mutation_p.T377I|PBX3_ENST00000373483.2_Missense_Mutation_p.T196I			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	377				Y -> C (in Ref. 2; AAL09477).	anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TAGGTGGATACCCTCCGTCAT	0.393000													3	11					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891673	89891673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:89891673C>T	ENST00000435811.1	-	7	1303	c.849G>A	c.(847-849)tgG>tgA	p.W283*	GABRR1_ENST00000454853.2_Nonsense_Mutation_p.W300*|GABRR1_ENST00000369451.3_Nonsense_Mutation_p.W213*	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	300					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAAGGACACCCAGGACAGCA	0.488000													16	20					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	534807	534807	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:534807G>A	ENST00000437048.2	-	8	816	c.670C>T	c.(670-672)Cct>Tct	p.P224S	VPS53_ENST00000571805.1_Missense_Mutation_p.P224S|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.P26S|VPS53_ENST00000291074.5_Missense_Mutation_p.P195S	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	224					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		CCCTGGGAAGGAAACGCTTCT	0.498000													14	39					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680607	72680607	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:72680607C>A	ENST00000261180.4	+	2	1022	c.926C>A	c.(925-927)tCc>tAc	p.S309Y		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	309					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTGGAAACTTCCGTGTTTGAG	0.398000													12	59					1.05317e-09	1.07494e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179644851	179644851	+	Missense_Mutation	SNP	A	A	G	rs150667217	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179644851A>G	ENST00000589042.1	-	22	3829	c.3605T>C	c.(3604-3606)gTt>gCt	p.V1202A	TTN_ENST00000460472.2_Missense_Mutation_p.V1156A|TTN_ENST00000342175.6_Missense_Mutation_p.V1156A|TTN_ENST00000342992.6_Missense_Mutation_p.V1202A|TTN_ENST00000591111.1_Missense_Mutation_p.V1202A|TTN_ENST00000360870.5_Missense_Mutation_p.V1202A|TTN_ENST00000359218.5_Missense_Mutation_p.V1156A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1202			V -> A.				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)			TGTTTCTCCAACTTTAGGTTC	0.363000													5	22					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40699657	40699657	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:40699657C>T	ENST00000298910.7	+	28	3906	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1283					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAACTAAGATCCTTTCCCAAT	0.363000													9	30					0	0	1	0	0
CCDC148	130940	broad.mit.edu	37	2	159165971	159165971	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:159165971C>T	ENST00000283233.5	-	9	1397	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	CCDC148_ENST00000536771.1_Missense_Mutation_p.E276K|CCDC148_ENST00000409187.1_Missense_Mutation_p.E371K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	362										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCACACAATTCCTGTTGCTTT	0.403000													9	22					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368729	22368729	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:22368729G>A	ENST00000332663.2	+	1	252	c.154G>A	c.(154-156)Gac>Aac	p.D52N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CATCAGTCTAGACCCTCATCT	0.413000													46	270					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428000													17	56					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143594	103143594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:103143594C>T	ENST00000424685.2	-	52	8517	c.8358G>A	c.(8356-8358)tgG>tgA	p.W2786*	RELN_ENST00000343529.5_Nonsense_Mutation_p.W2786*|RELN_ENST00000428762.1_Nonsense_Mutation_p.W2786*|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2786					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCAGATAATTCCAACTCACAC	0.413000													18	32					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157256616	157256616	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:157256616G>T	ENST00000346085.5	+	5	1944	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V	ARID1B_ENST00000350026.5_Missense_Mutation_p.G635V|ARID1B_ENST00000367148.1_Missense_Mutation_p.G635V|ARID1B_ENST00000275248.4_Missense_Mutation_p.G577V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	635					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTCAGGAAGGCTATGGAACT	0.368000													3	40					1	1	1	1	0
LRRC37A3	374819	broad.mit.edu	37	17	62856152	62856152	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:62856152G>A	ENST00000584306.1	-	11	4642	c.4112C>T	c.(4111-4113)cCt>cTt	p.P1371L	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.P348L|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.P489L|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.P409L|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.P1371L	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1371						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCAGAAAAGGATTTTCTTG	0.388000													19	34					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7559737	7559737	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:7559737C>T	ENST00000399429.3	-	6	909	c.769G>A	c.(769-771)Gga>Aga	p.G257R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	257	Collagen-like 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGATTTCCATGTGTACCC	0.333000													13	9					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321113	106321113	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:106321113C>T	ENST00000390559.2	-	0	875																											TCCAGTCATCCTCGCAGATGC	0.627000													7	7					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51466647	51466647	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:51466647G>A	ENST00000376851.3	-	4	795	c.356C>T	c.(355-357)tCt>tTt	p.S119F	KLK6_ENST00000310157.2_Missense_Mutation_p.S119F|KLK6_ENST00000391808.1_Missense_Mutation_p.S12F|KLK6_ENST00000594641.1_Missense_Mutation_p.S119F|KLK6_ENST00000376853.4_Intron|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000456750.2_Missense_Mutation_p.S12F	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	119	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GATGAGTTCAGAGAGTTTGGC	0.602000													4	25					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806954	33806954	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:33806954C>T	ENST00000260908.7	-	2	392	c.275G>A	c.(274-276)gGa>gAa	p.G92E	SLFN12L_ENST00000361112.4_Missense_Mutation_p.G121E|SLFN12L_ENST00000449046.1_Missense_Mutation_p.G123E	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	124						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TAGCCCTATTCCATCTTTTTT	0.383000													6	20					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125528186	125528186	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:125528186G>A	ENST00000241305.3	-	9	1309	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	385					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCAGCTCCCGGCCCAGCACCT	0.597000													43	67					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144892451	144892451	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:144892451G>A	ENST00000369351.3	-	22	3062	c.2954C>T	c.(2953-2955)cCt>cTt	p.P985L	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000313382.9_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)		GACCTCAGAAGGGCTGTGTGC	0.488000			T	PDGFRB	MPD								7	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239945	3239945	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3239945G>A	ENST00000217939.6	-	5	3935	c.3781C>T	c.(3781-3783)Cca>Tca	p.P1261S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1261						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTATTTTCTGGAGAAGGGCTG	0.453000													30	25					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389947	77389947	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:77389947C>T	ENST00000282849.5	-	9	1768	c.1350G>A	c.(1348-1350)ggG>ggA	p.G450G		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAGGGATTCCCTTCTCCAT	0.428000													17	34					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122345835	122345835	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:122345835C>T	ENST00000464300.2	+	9	1459	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	PARP15_ENST00000493645.1_Intron|PARP15_ENST00000483793.1_Intron|PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000310366.4_Missense_Mutation_p.L231F	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	443	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	p.L231F(1)|p.L465F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAAAAGAGACCTCTCTGCATC	0.368000													6	30					0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16238325	16238325	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:16238325C>G	ENST00000300935.3	+	5	676	c.403C>G	c.(403-405)Cgg>Ggg	p.R135G	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.R135G	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	135					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TTCCAAGGAACGGGGAGAAAA	0.592000													5	12					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99798576	99798576	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:99798576T>C	ENST00000426455.1	+	19	2452	c.2045T>C	c.(2044-2046)cTt>cCt	p.L682P	STAG3_ENST00000394018.2_Missense_Mutation_p.L624P|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.L682P|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_3'UTR			Q9UJ98	STAG3_HUMAN	stromal antigen 3	682					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGGAGCTTGAAGAGCTG	0.567000													26	34					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458389	248458389	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248458389G>A	ENST00000317996.1	-	1	491	c.492C>T	c.(490-492)ttC>ttT	p.F164F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CGCAATATGGGAAGCTCAGGG	0.582000													26	58					0	0	1	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180726	142180726	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142180726C>T	ENST00000390368.2	-	0	198																											TGGTTCATATCCTGGGCACAC	0.512000													54	285					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78082067	78082067	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:78082067C>T	ENST00000316355.5	+	4	826	c.470C>T	c.(469-471)aCt>aTt	p.T157I	CCNG2_ENST00000509972.1_Missense_Mutation_p.T157I|CCNG2_ENST00000354403.5_Missense_Mutation_p.T157I|CCNG2_ENST00000502280.1_Missense_Mutation_p.T157I|CCNG2_ENST00000395640.1_Missense_Mutation_p.T157I|CCNG2_ENST00000497512.1_3'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	157					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAGCTACTACTGCCTTAAAC	0.328000													3	24					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220340871	220340871	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:220340871T>A	ENST00000358951.2	-	25	3069	c.2953A>T	c.(2953-2955)Atg>Ttg	p.M985L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	985					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)		TCCATCTCCATCTCTGATACC	0.383000													27	83					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83947449	83947449	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:83947449C>T	ENST00000369705.3	-	9	1129	c.1013G>A	c.(1012-1014)gGa>gAa	p.G338E	ME1_ENST00000543031.1_Missense_Mutation_p.G263E|ME1_ENST00000541327.1_Missense_Mutation_p.G172E	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	338					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AACTATTAATCCTTTTGAATC	0.388000													5	1					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887745	3887745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:3887745G>A	ENST00000319331.3	+	2	2181	c.1420G>A	c.(1420-1422)Gat>Aat	p.D474N	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	474	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AACCCTTTCAGATAAATACAA	0.438000													9	35					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605968	48605968	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:48605968C>T	ENST00000328333.8	-	104	7866		c.e104-1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGTTGACCCTGTGAGAAAC	0.662000													8	25					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3747931	3747931	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:3747931G>A	ENST00000541714.2	+	19	2924	c.2462G>A	c.(2461-2463)gGc>gAc	p.G821D	TJP3_ENST00000539908.2_Missense_Mutation_p.G785D|TJP3_ENST00000589378.1_Missense_Mutation_p.G830D|TJP3_ENST00000382008.3_Missense_Mutation_p.G835D|TJP3_ENST00000587686.1_Missense_Mutation_p.G840D|TJP3_ENST00000262968.9_Missense_Mutation_p.G854D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	835						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCGAGGGCTACACAGAC	0.701000													13	39					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706266	107706266	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:107706266G>A	ENST00000388781.3	-	21	2860	c.2777C>T	c.(2776-2778)tCc>tTc	p.S926F	LAMB4_ENST00000388780.3_Missense_Mutation_p.S926F|LAMB4_ENST00000205386.4_Missense_Mutation_p.S926F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	926	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGATAACAGGAATGGGCAAA	0.423000													27	50					0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2216417	2216417	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:2216417C>T	ENST00000398665.3	+	20	2097	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	687						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)		AGCCTGACGCCAGCCGGCTGC	0.672000													17	34					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122538699	122538699	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:122538699G>A	ENST00000264357.5	+	10	1726	c.1434G>A	c.(1432-1434)ggG>ggA	p.G478G	GRIA3_ENST00000371256.5_Silent_p.G478G|GRIA3_ENST00000542149.1_Silent_p.G478G|GRIA3_ENST00000541091.1_Silent_p.G462G|GRIA3_ENST00000371251.1_Silent_p.G478G	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	478					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTGGTGACGGGAAATATGGTG	0.398000													23	17					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807702	86807702	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:86807702C>T	ENST00000441037.2	+	10	1257	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S	AGBL1_ENST00000389298.3_Missense_Mutation_p.P119S|AGBL1_ENST00000421325.2_Missense_Mutation_p.P388S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	388					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.P388S(1)		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						CAAAAAAAATCCTGGAGTGAA	0.478000													11	16					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420775	55420775	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55420775C>T	ENST00000594765.1	+	4	552	c.527C>T	c.(526-528)cCc>cTc	p.P176L	NCR1_ENST00000350790.5_Missense_Mutation_p.P81L|NCR1_ENST00000338835.5_Missense_Mutation_p.P176L|NCR1_ENST00000357397.5_Missense_Mutation_p.P69L|NCR1_ENST00000598576.1_Missense_Mutation_p.P164L|NCR1_ENST00000447255.1_Missense_Mutation_p.P176L|NCR1_ENST00000291890.4_Missense_Mutation_p.P176L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	176	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCGGAGTTCCCCCTGGGCCCT	0.572000													18	52					0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888004	37888004	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:37888004G>A	ENST00000377716.2	-	3	1287	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.R182W|SLC25A51_ENST00000380590.3_Missense_Mutation_p.R182W			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	182					transport	integral to membrane|mitochondrial inner membrane		p.R182W(1)									AGTCCATTCCGGAAAAGAATG	0.458000													19	27					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8138131	8138131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:8138131G>A	ENST00000600128.1	-	62	8167	c.7753C>T	c.(7753-7755)Cgc>Tgc	p.R2585C	FBN3_ENST00000601739.1_Missense_Mutation_p.R2585C|FBN3_ENST00000270509.2_Missense_Mutation_p.R2585C			Q75N90	FBN3_HUMAN	fibrillin 3	2585	EGF-like 43; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGAGTGTTGCGACAGGAGGCG	0.662000													13	34					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56549442	56549442	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:56549442C>T	ENST00000390649.3	+	10	2667	c.2667C>T	c.(2665-2667)atC>atT	p.I889I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	889						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCTCCCAAATCCTTACGACCT	0.537000													13	26					0	0	1	0	0
GDPD1	284161	broad.mit.edu	37	17	57348352	57348352	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:57348352G>A	ENST00000284116.4	+	8	903	c.766G>A	c.(766-768)Gat>Aat	p.D256N	GDPD1_ENST00000581140.1_Missense_Mutation_p.D256N|GDPD1_ENST00000581276.1_Missense_Mutation_p.D256N	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	256	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTGGCTTTCTGATCTGTAAGA	0.303000													13	34					0	0	1	0	0
KRT40	125115	broad.mit.edu	37	17	39139369	39139369	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39139369C>T	ENST00000377755.4	-	2	493	c.459G>A	c.(457-459)acG>acA	p.T153T	KRT40_ENST00000398486.2_Silent_p.T153T			Q6A162	K1C40_HUMAN	keratin 40	153	Coil 1B.|Rod.		T -> M (in dbSNP:rs9908304).			intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TCTCTGCTTTCGTGCATAAGA	0.333000													17	75					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117387190	117387190	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:117387190G>A	ENST00000321322.6	-	8	1956	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.A382V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	592	Ig-like C2-type 7.				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)		ACCTTTGACGGCTACGTGAAC	0.622000													6	27					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89891674	89891674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:89891674C>T	ENST00000435811.1	-	7	1302	c.848G>A	c.(847-849)tGg>tAg	p.W283*	GABRR1_ENST00000454853.2_Nonsense_Mutation_p.W300*|GABRR1_ENST00000369451.3_Nonsense_Mutation_p.W213*	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	300					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	GAAGGACACCCAGGACAGCAT	0.488000													16	20					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40874902	40874902	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:40874902G>A	ENST00000428826.2	-	6	519	c.398C>T	c.(397-399)cCc>cTc	p.P133L	EZH1_ENST00000592743.1_Missense_Mutation_p.P133L|EZH1_ENST00000590078.1_Missense_Mutation_p.P63L|EZH1_ENST00000585893.1_Missense_Mutation_p.P93L|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.P124L			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	133					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCCCATGTAGGGAATATTGCA	0.398000													16	66					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20033087	20033087	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:20033087G>A	ENST00000377340.2	-	2	414	c.383C>T	c.(382-384)tCc>tTc	p.S128F	CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F|CRNKL1_ENST00000536226.1_5'UTR	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	128					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AAACAAACAGGATCTCGGAAC	0.587000													26	36					0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5004149	5004149	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:5004149G>A	ENST00000380051.2	-	1	132	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	RPP40_ENST00000319533.5_Missense_Mutation_p.R30W	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	30					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)				ACAAGATGCCGGTGGCGCGAC	0.627000											OREG0017160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	36					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	33984617	33984617	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:33984617G>A	ENST00000262325.7	+	14	2349		c.e14-1		AP2B1_ENST00000589344.1_Splice_Site|AP2B1_ENST00000592545.1_Splice_Site|AP2B1_ENST00000545922.2_Splice_Site|AP2B1_ENST00000538556.1_Splice_Site|AP2B1_ENST00000537622.2_Splice_Site|AP2B1_ENST00000312678.8_Splice_Site	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit						axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		TGTGACTTTAGCACTGATGCA	0.423000													6	19					0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113905968	113905968	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:113905968C>T	ENST00000261731.3	-	3	1212	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	213						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TCTCCTGCGCCAGCTGCTCGC	0.731000													7	19					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331344	55331344	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55331344G>A	ENST00000391728.4	+	4	565	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A83T|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A178T|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A178T|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A178T|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A178T	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCTCCAAGGCCAATTTCTC	0.517000													44	119					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74278107	74278107	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:74278107G>A	ENST00000262765.5	-	8	3782	c.3603C>T	c.(3601-3603)acC>acT	p.T1201T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1201							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						CAGGAGCCAAGGTGTGGGCCT	0.622000													3	23					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099620	142099620	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142099620C>T	ENST00000390359.3	-	0	220																											AAACTCTGGCCCCTGCCCCAG	0.512000													7	58					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191844	5191844	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:5191844G>A	ENST00000274181.7	+	8	1392	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ADAMTS16_ENST00000511368.1_Silent_p.T418T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	418	Peptidase M12B.				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						GCAGCTGCACGATTAATGAAG	0.433000													15	42					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246831	164246831	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:164246831C>T	ENST00000296533.2	-	3	1310	c.779G>A	c.(778-780)aGa>aAa	p.R260K	NPY1R_ENST00000509586.1_Missense_Mutation_p.R17K	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	260					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GATATTGATTCTTTTGGTTTC	0.373000													10	13					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125521	34125521	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:34125521A>C	ENST00000297161.2	+	14	1936	c.1562A>C	c.(1561-1563)gAc>gCc	p.D521A	BMPER_ENST00000426693.1_Missense_Mutation_p.D521A	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	521	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GATGTGGATGACTTTGCTGAA	0.463000													26	38					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170235712	170235712	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:170235712C>T	ENST00000518525.1	+	9	1252	c.788C>T	c.(787-789)tCa>tTa	p.S263L	GABRP_ENST00000265294.4_Missense_Mutation_p.S263L|GABRP_ENST00000519598.1_Missense_Mutation_p.S263L|GABRP_ENST00000519385.1_Missense_Mutation_p.S263L			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	263						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTGGGTTTCATTTTGGATC	0.428000													10	26					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698557	43698557	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:43698557G>T	ENST00000405312.3	-	5	1415	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	PSG4_ENST00000244295.9_Missense_Mutation_p.A300D|PSG4_ENST00000433626.2_Missense_Mutation_p.A300D	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	393	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AACAGAGCAAGCATAGAGCCC	0.458000													47	114					1.06522e-23	1.0907e-23	1	1	0
BACH2	60468	broad.mit.edu	37	6	90661123	90661123	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:90661123G>A	ENST00000257749.4	-	7	1409	c.702C>T	c.(700-702)taC>taT	p.Y234Y	BACH2_ENST00000537989.1_Silent_p.Y234Y|BACH2_ENST00000343122.3_Silent_p.Y234Y|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	234						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ATGCAAGCTGGTATTTCTTGT	0.498000													17	33					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940062	64940062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:64940062C>T	ENST00000377185.2	+	5	584	c.502C>T	c.(502-504)Cag>Tag	p.Q168*		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	168	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TGTGAGCCGCCAGTGCTGTGA	0.597000													8	37					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154542000	154542000	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:154542000G>A	ENST00000409959.3	+	27	3709	c.3660G>A	c.(3658-3660)aaG>aaA	p.K1220K	KIAA0922_ENST00000409663.3_Silent_p.K1219K|KIAA0922_ENST00000440693.1_Silent_p.K1136K	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1219						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CATGTAGAAAGAACAAGAAAA	0.313000													10	43					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41939261	41939261	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:41939261G>A	ENST00000317310.4	+	7	1022	c.981G>A	c.(979-981)tcG>tcA	p.S327S		NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	327						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGGGCTTCTCGAAGTTTGTCT	0.607000													5	8					0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283125	2283125	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:2283125C>T	ENST00000301727.4	+	7	1045	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	E4F1_ENST00000565090.1_Missense_Mutation_p.H333Y|E4F1_ENST00000564139.1_Missense_Mutation_p.H333Y	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	333					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CACCGTCATCCACGAAGTCCA	0.637000													33	91					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17795735	17795735	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:17795735C>T	ENST00000380607.4	+	9	1173	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	SH3GL2_ENST00000537391.1_Silent_p.P304P	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	351					axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		TTGCCCTGCCCCATTAGGATG	0.488000													7	9					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924630	188924630	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:188924630G>A	ENST00000326866.4	+	4	1077	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFP42_ENST00000509524.1_Silent_p.G223G	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	223					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGAATGTGGGAAAGCGTTCG	0.507000													14	48					0	0	1	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841131	4841131	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:4841131G>A	ENST00000225665.7	-	8	1190	c.850C>T	c.(850-852)Ccg>Tcg	p.P284S	SLC25A11_ENST00000544061.2_Missense_Mutation_p.P233S	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	284					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GCATAGTACGGCGTGAAGCCC	0.592000													14	42					0	0	1	0	0
SNORD114-31	767612	broad.mit.edu	37	14	101459632	101459632	+	RNA	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:101459632G>A	ENST00000363219.1	+	0	60					NR_003224.1																						TAAGTGCCTGGAACTCTGAGG	0.388000													15	28					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872103	213872103	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:213872103C>T	ENST00000457361.1	-	8	1730	c.1562G>A	c.(1561-1563)gGg>gAg	p.G521E	IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000374327.4_Missense_Mutation_p.G376E|IKZF2_ENST00000374319.4_Missense_Mutation_p.G495E|IKZF2_ENST00000434687.1_Missense_Mutation_p.G521E|IKZF2_ENST00000451136.2_Missense_Mutation_p.G449E|IKZF2_ENST00000421754.2_Missense_Mutation_p.G447E|IKZF2_ENST00000342002.2_Missense_Mutation_p.G527E	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGTGCTCCCCTCGAACAAT	0.478000													11	31					0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73334727	73334727	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:73334727G>A	ENST00000377767.4	-	20	2833	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	DIS3_ENST00000377780.4_Silent_p.I881I|DIS3_ENST00000545453.1_Silent_p.I749I	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	911					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)		AGTCTAACATGATTTTCACTT	0.333000										Multiple Myeloma(4;0.011)			8	25					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224085	248224085	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:248224085C>T	ENST00000359959.3	+	1	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTTCATTTTCCTAATGGCTC	0.388000													53	122					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160289573	160289573	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:160289573G>A	ENST00000392783.2	-	9	2090	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F	BAZ2B_ENST00000343439.5_Missense_Mutation_p.S530F|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S530F|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S532F	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACAGGTGAGGAAAAAGGGGT	0.453000													24	79					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026115	57026115	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:57026115C>T	ENST00000311923.1	-	1	426	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	143	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GTGACGTTGCCACCGAACTCC	0.627000													65	102					0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124250037	124250037	+	Splice_Site	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:124250037C>A	ENST00000276704.4	-	3	409		c.e3+1		C8orf76_ENST00000521310.1_Splice_Site|ZHX1-C8ORF76_ENST00000357082.4_Splice_Site	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76								binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCACTCACCAAGTTTGCA	0.428000													6	38					1.06961e-07	1.08999e-07	1	1	0
SPAG6	9576	broad.mit.edu	37	10	22680666	22680666	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:22680666C>T	ENST00000376603.2	+	8	1384	c.1242C>T	c.(1240-1242)ccC>ccT	p.P414P	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Silent_p.P313P|SPAG6_ENST00000376601.1_Silent_p.P99P|SPAG6_ENST00000313311.6_Silent_p.P338P|SPAG6_ENST00000376624.3_Silent_p.P338P			O75602	SPAG6_HUMAN	sperm associated antigen 6	338					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGGGTGTACCCCAGTTGTCAG	0.468000													7	14					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746690	51746690	+	Missense_Mutation	SNP	G	G	A	rs143196180		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:51746690G>A	ENST00000395052.3	+	3	886	c.652G>A	c.(652-654)Gag>Aag	p.E218K	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.E218K	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	218					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)	CGACTATGGCGAGACAGGCAT	0.592000													15	37					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10267746	10267746	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10267746G>A	ENST00000418404.3	-	2	265	c.102C>T	c.(100-102)tcC>tcT	p.S34S	MYH13_ENST00000252172.4_Silent_p.S34S|MYH13_ENST00000570743.1_Silent_p.S34S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	34	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGGCTTTCTTGGAATCGAATG	0.463000													4	10					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397974	57397974	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:57397974G>A	ENST00000300101.2	-	2	813	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCTGGCAGGAGCTCGTGCT	0.532000													8	33					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409421	82409421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:82409421C>T	ENST00000370728.1	+	8	1811	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	LPHN2_ENST00000394879.1_Missense_Mutation_p.S389F|LPHN2_ENST00000370727.1_Missense_Mutation_p.S389F|LPHN2_ENST00000359929.3_Missense_Mutation_p.S389F|LPHN2_ENST00000370723.1_Missense_Mutation_p.S389F|LPHN2_ENST00000370721.1_Missense_Mutation_p.S393F|LPHN2_ENST00000370717.2_Missense_Mutation_p.S389F|LPHN2_ENST00000370725.1_Missense_Mutation_p.S389F|LPHN2_ENST00000370715.1_Missense_Mutation_p.S389F|LPHN2_ENST00000335786.5_Missense_Mutation_p.S389F|LPHN2_ENST00000370730.1_Missense_Mutation_p.S389F|LPHN2_ENST00000370713.1_Missense_Mutation_p.S389F|LPHN2_ENST00000271029.4_Missense_Mutation_p.S389F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.S389F			O95490	LPHN2_HUMAN	latrophilin 2	389	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)		TTACGATATTCTCTGGAGTTT	0.383000													18	43					0	0	1	0	0
CD81-AS1	101927682	broad.mit.edu	37	11	2356716	2356716	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:2356716C>T	ENST00000413483.1	-	0	407				RPL26P30_ENST00000602923.1_RNA																							CGTTGGCCTTCTCACGCTGCA	0.488000													32	88					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108608587	108608587	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:108608587C>T	ENST00000264047.2	+	3	480	c.204C>T	c.(202-204)atC>atT	p.I68I	SLC5A7_ENST00000540517.1_5'UTR|SLC5A7_ENST00000409059.1_Silent_p.I68I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	68					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I68I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAGGGTATATCAATGGCACAG	0.458000													13	27					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65983993	65983993	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:65983993C>T	ENST00000320580.4	+	6	841	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	270					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	p.R270C(1)	RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TGTTGCAGATCGTTCTCCTGA	0.443000													11	24					0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110475222	110475222	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:110475222G>A	ENST00000261739.4	+	15	1802	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	546										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CGCCCTGAGCGAGACAAGCCG	0.562000													37	32					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065866	9065866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9065866C>T	ENST00000397910.4	-	3	21783	c.21580G>A	c.(21580-21582)Gaa>Aaa	p.E7194K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7196	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						GAAGGGGATTCATGTCCAGAG	0.493000													33	81					0	0	1	0	0
IGHV3-13	28449	broad.mit.edu	37	14	106586331	106586331	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:106586331C>T	ENST00000390602.2	-	0	233																											CAGTGCATGTCGTAGCTACTG	0.587000													22	40					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124745143	124745143	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124745143G>A	ENST00000397801.1	+	14	2402	c.2210G>A	c.(2209-2211)gGg>gAg	p.G737E	ROBO3_ENST00000538940.1_Missense_Mutation_p.G715E	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	737	Fibronectin type-III 2.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCCCTCCAGGGACCCAAATC	0.592000													26	57					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21912939	21912939	+	Silent	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:21912939T>C	ENST00000328843.6	+	75	12067	c.12036T>C	c.(12034-12036)ctT>ctC	p.L4012L	DNAH11_ENST00000409508.3_Silent_p.L4005L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4012	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGCTCCTTGAAAGATTCA	0.458000									Kartagener syndrome				6	9					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445173	99445173	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:99445173G>A	ENST00000354829.2	+	5	484	c.381G>A	c.(379-381)aaG>aaA	p.K127K	CYP3A43_ENST00000222382.5_Silent_p.K127K|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.K127K|CYP3A43_ENST00000342499.4_5'UTR	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	127			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AAGAATGGAAGAGAATACGAA	0.363000													13	56					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705414	50705414	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:50705414C>T	ENST00000442544.2	+	9	2117	c.1501C>T	c.(1501-1503)Cga>Tga	p.R501*	DCC_ENST00000581580.1_Nonsense_Mutation_p.R156*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R349*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	501	Fibronectin type-III 1.				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)		GTACACCTTTCGAGTTGTGGC	0.507000													6	7					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66951586	66951586	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:66951586G>A	ENST00000299752.4	-	3	281	c.88C>T	c.(88-90)Cca>Tca	p.P30S	CDH16_ENST00000394055.3_Missense_Mutation_p.P30S|CDH16_ENST00000565796.1_Missense_Mutation_p.P30S|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000568632.1_Missense_Mutation_p.P30S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	30	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TAGTTTTCTGGAACTTCCACA	0.582000													7	11					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158153921	158153921	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:158153921C>T	ENST00000368171.3	+	7	1488	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	330					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTCACAGTTCCTATCAGGGC	0.517000													20	54					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201437408	201437408	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:201437408C>T	ENST00000357799.4	+	7	2437	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F		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)	780					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						CTGTATGATTCTGAGATTCAA	0.383000													8	27					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27216666	27216666	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:27216666G>A	ENST00000230582.3	+	3	293	c.278G>A	c.(277-279)gGa>gAa	p.G93E	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	93					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						GGCCAGGATGGACCCATATTC	0.532000													9	30					0	0	1	0	0
TRBV24-1	28563	broad.mit.edu	37	7	142364455	142364455	+	RNA	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142364455G>A	ENST00000390397.2	+	0	126																											CAAGGAATAGGATCACAAAGA	0.458000													3	8					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863277	99863277	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:99863277G>A	ENST00000409679.1	-	3	194	c.50C>T	c.(49-51)tCc>tTc	p.S17F	LYG2_ENST00000409238.1_Missense_Mutation_p.S17F|LYG2_ENST00000333017.2_Missense_Mutation_p.S17F			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	17					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TGAGCCCCTGGAAGTGCCTAG	0.502000													8	25					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044747	56044747	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:56044747G>A	ENST00000244728.5	-	3	666	c.269C>T	c.(268-270)cCt>cTt	p.P90L	COL21A1_ENST00000370819.1_Missense_Mutation_p.P90L|COL21A1_ENST00000535941.1_Missense_Mutation_p.P90L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	90	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTTCCGAGAGGAATCTCCAG	0.438000													7	10					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99924781	99924781	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:99924781G>A	ENST00000331768.5	-	6	669	c.510C>T	c.(508-510)tcC>tcT	p.S170S	SETD3_ENST00000436070.2_Silent_p.S170S|SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000329331.3_Silent_p.S170S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	170	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GCTGCCAGAAGGAGTTAGGGC	0.468000													13	29					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19319269	19319269	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:19319269G>A	ENST00000461366.1	+	14	1892	c.1677G>A	c.(1675-1677)atG>atA	p.M559I		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	559							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CCGGGCTCATGGGCCTGGCAG	0.697000													4	10					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110496372	110496372	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:110496372G>A	ENST00000324068.1	-	4	537	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	124	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGCCAGAAACGAAAGTGAAAT	0.403000													20	16					0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2093626	2093626	+	Silent	SNP	A	A	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:2093626A>T	ENST00000219066.1	-	4	669	c.651T>A	c.(649-651)gtT>gtA	p.V217V	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	217					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						TCTTGGGCCCAACACCCGGCA	0.647000								Base excision repair (BER), DNA glycosylases					3	27					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216838	97216838	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:97216838G>A	ENST00000454558.2	+	7	1546	c.369G>A	c.(367-369)atG>atA	p.M123I	ARID5A_ENST00000357485.3_Missense_Mutation_p.M191I			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	191	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CATTCCAGATGATGCCAGGAA	0.612000													21	43					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749683	80749683	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:80749683A>C	ENST00000458043.2	+	46	5740	c.5734A>C	c.(5734-5736)Atg>Ctg	p.M1912L	OTOGL_ENST00000547103.1_Missense_Mutation_p.M1900L	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TGAAGTTGTCATGGGCATCAT	0.398000													31	85					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125078772	125078772	+	Missense_Mutation	SNP	C	C	T	rs145959839		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:125078772C>T	ENST00000522917.1	+	27	3865	c.3659C>T	c.(3658-3660)tCc>tTc	p.S1220F	FER1L6_ENST00000399018.1_Missense_Mutation_p.S1220F|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1220						integral to membrane		p.S1220F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TATTATGCCTCCCTGAAGAAA	0.483000													56	82					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628533	71628533	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:71628533T>G	ENST00000377276.2	-	1	506	c.476A>C	c.(475-477)cAc>cCc	p.H159P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	159	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTCGAGCGAGTGTAGGTACTG	0.627000													5	9					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50789856	50789856	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50789856G>A	ENST00000440075.2	+	34	4704	c.4657G>A	c.(4657-4659)Gag>Aag	p.E1553K	MYH14_ENST00000425460.1_Missense_Mutation_p.E1520K|MYH14_ENST00000596571.1_Missense_Mutation_p.E1512K|MYH14_ENST00000601313.1_Missense_Mutation_p.E1553K|MYH14_ENST00000262269.8_Missense_Mutation_p.E1553K|MYH14_ENST00000376970.2_Missense_Mutation_p.E1545K|MYH14_ENST00000598205.1_Missense_Mutation_p.E1520K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1512					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		ACTGGAGGAGGAGCAGGAGGC	0.687000													3	11					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57913864	57913864	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:57913864G>A	ENST00000574161.1	+	4	496	c.377G>A	c.(376-378)aGa>aAa	p.R126K	GCOM1_ENST00000380560.2_Intron|GCOM1_ENST00000380568.3_Missense_Mutation_p.R126K|GCOM1_ENST00000380569.2_Missense_Mutation_p.R126K|GCOM1_ENST00000572390.1_Missense_Mutation_p.R126K|MYZAP_ENST00000380565.4_Missense_Mutation_p.R126K|GCOM1_ENST00000396180.1_Intron|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000267853.5_Missense_Mutation_p.R126K|GCOM1_ENST00000587652.1_Missense_Mutation_p.R126K|GCOM1_ENST00000380561.2_Intron	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		126					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GATGAGATGAGACAGAAGATT	0.468000													7	31					0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41195057	41195057	+	Missense_Mutation	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:41195057G>T	ENST00000435456.2	-	2	218	c.85C>A	c.(85-87)Ccc>Acc	p.P29T	SLC25A17_ENST00000544408.1_5'UTR|SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000542412.1_Missense_Mutation_p.P29T	NM_006358.2	NP_006349.1	O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	29					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GTATCCAGGGGAAAAAACACT	0.363000													8	16					0.000157383	0.000159118	1	1	0
CCDC37	348807	broad.mit.edu	37	3	126138823	126138823	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:126138823G>A	ENST00000393425.1	+	10	1016	c.916_splice	c.e10-1	p.G306_splice	CCDC37_ENST00000505024.1_Splice_Site_p.G306_splice|CCDC37_ENST00000352312.1_Splice_Site_p.G305_splice			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	305										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)		CTTCCTGCAGGACCAGGGATC	0.662000													11	27					0	0	1	0	0
KRT23	25984	broad.mit.edu	37	17	39092725	39092725	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39092725G>A	ENST00000209718.3	-	2	555	c.131C>T	c.(130-132)tCc>tTc	p.S44F	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	44	Head.					intermediate filament	structural molecule activity	p.S44F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GAAGGACAGGGAGATGCGGGC	0.701000													16	67					0	0	1	0	0
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458668	90458668	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:90458668C>T	ENST00000603238.1	+	2	344	c.344C>T	c.(343-345)cCt>cTt	p.115_115insL																								GACAGTACCCCTCCCACAGCG	0.512000													11	263					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123068939	123068939	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:123068939G>A	ENST00000333479.7	+	35	3555	c.3378G>A	c.(3376-3378)ctG>ctA	p.L1126L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1126					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)		CTGTGGGACTGAATCTTCCTT	0.418000													11	37					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219678	124219678	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:124219678C>T	ENST00000518448.1	+	5	3069	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.S352F|FAM83A_ENST00000276699.6_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	352	Ser-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGTCCGCGTCTTCAGGGCCC	0.726000													4	30					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145843314	145843314	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:145843314C>T	ENST00000296702.5	+	5	1131	c.1093C>T	c.(1093-1095)Ccg>Tcg	p.P365S	TCERG1_ENST00000394421.2_Missense_Mutation_p.P365S	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	365	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATGGTACCTCCGTTTCGTGT	0.473000													24	64					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109535436	109535436	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:109535436G>A	ENST00000356711.2	+	13	1515	c.1389G>A	c.(1387-1389)ggG>ggA	p.G463G	MYO16_ENST00000251041.5_Silent_p.G463G|MYO16_ENST00000357550.2_Silent_p.G463G	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	463	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCTCCTCAGGGAAGCTGTGTT	0.547000													43	97					0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217955521	217955521	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:217955521C>T	ENST00000366933.4	+	8	784	c.729C>T	c.(727-729)ccC>ccT	p.P243P	RP11-415L24.1_ENST00000415765.1_RNA	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	243						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		GTCAGGGGCCCTTCCGAGATA	0.448000													8	23					0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19646785	19646785	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:19646785C>T	ENST00000266508.9	+	4	1040	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	AEBP2_ENST00000398864.3_Missense_Mutation_p.R347C|AEBP2_ENST00000360995.4_Missense_Mutation_p.R131C|AEBP2_ENST00000541908.1_Missense_Mutation_p.R118C	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	347					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGGGCTAGCTCGTCATGTACC	0.458000													4	14					0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138522638	138522638	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:138522638G>A	ENST00000413208.1	+	3	272	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	KIAA1549_ENST00000242365.4_3'UTR|KIAA1549_ENST00000422774.1_3'UTR|KIAA1549_ENST00000440172.1_3'UTR			A2RRL7	TM213_HUMAN	transmembrane protein 213	0						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						GCAAATCTGCGAGGCGAGGCC	0.567000													5	10					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20618577	20618577	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:20618577G>A	ENST00000504154.1	+	35	4144	c.3892G>A	c.(3892-3894)Ggg>Agg	p.G1298R	SLIT2_ENST00000503837.1_Missense_Mutation_p.G1294R|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1290R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G1311R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1298	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGGCCCCTGGGCAGAACGG	0.577000													8	35					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249329	44249329	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:44249329G>A	ENST00000262419.6	-	2	651	c.181C>T	c.(181-183)Cta>Tta	p.L61L	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Silent_p.L61L|KANSL1_ENST00000575318.1_Silent_p.L61L|KANSL1_ENST00000574590.1_Silent_p.L61L|KANSL1_ENST00000572904.1_Silent_p.L61L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	61						MLL1 complex	protein binding										CGGAAATCTAGGCTGGGATCC	0.483000													17	141					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133827325	133827325	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:133827325G>A	ENST00000367895.5	+	14	1737	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	EYA4_ENST00000355167.3_Missense_Mutation_p.D425N|EYA4_ENST00000431403.2_Missense_Mutation_p.D425N|RP3-323P13.2_ENST00000451017.1_RNA|EYA4_ENST00000531901.1_Missense_Mutation_p.D431N|EYA4_ENST00000452339.2_Missense_Mutation_p.D371N|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Missense_Mutation_p.D402N|EYA4_ENST00000355286.6_Missense_Mutation_p.D402N|EYA4_ENST00000430974.2_Missense_Mutation_p.D377N	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	425					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTTTTTTAATGATTTAGAGGT	0.373000													10	16					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967973	4967973	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4967973T>A	ENST00000380373.2	-	1	383	c.358A>T	c.(358-360)Atg>Ttg	p.M120L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAATGACATGATCAGGAGG	0.438000													28	116					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111714530	111714530	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:111714530C>T	ENST00000374595.4	-	14	1873	c.1794G>A	c.(1792-1794)cgG>cgA	p.R598R	CTNNAL1_ENST00000325551.4_Silent_p.R598R|CTNNAL1_ENST00000325580.6_Silent_p.R514R|CTNNAL1_ENST00000374594.1_5'UTR			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	598					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TGGACATGTTCCGTCCATATT	0.363000													4	13					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126408631	126408631	+	Silent	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:126408631A>C	ENST00000394329.3	+	16	12961	c.12948A>C	c.(12946-12948)acA>acC	p.T4316T	FAT4_ENST00000335110.5_Silent_p.T2557T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4316	Laminin G-like 2.				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						GAACAGCAACAGTATTGTCTG	0.418000													18	31					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88669548	88669548	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:88669548G>A	ENST00000394480.1	-	13	1671	c.1350C>T	c.(1348-1350)ttC>ttT	p.F450F	NTRK3_ENST00000540489.2_Silent_p.F450F|NTRK3_ENST00000542733.2_Silent_p.F352F|NTRK3_ENST00000357724.2_Silent_p.F442F|NTRK3_ENST00000355254.2_Silent_p.F450F|NTRK3_ENST00000317501.3_Silent_p.F450F|NTRK3_ENST00000557856.1_Silent_p.F442F|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000360948.2_Silent_p.F450F|NTRK3_ENST00000558676.1_Silent_p.F442F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	450					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGATCATGACGAAGAGAACCA	0.453000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			5	15					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898851	37898851	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:37898851C>T	ENST00000309156.4	+	3	445	c.188C>T	c.(187-189)tCc>tTc	p.S63F	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Missense_Mutation_p.S63F|GRB7_ENST00000394211.3_Missense_Mutation_p.S63F|GRB7_ENST00000394209.2_Missense_Mutation_p.S63F|GRB7_ENST00000309185.3_Missense_Mutation_p.S63F|GRB7_ENST00000445327.2_Missense_Mutation_p.S86F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGCCACCTCCCTCCCCTCT	0.622000													20	106					0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62606644	62606644	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:62606644C>T	ENST00000525239.1	-	4	772	c.235G>A	c.(235-237)Ggt>Agt	p.G79S	WDR74_ENST00000525752.1_Missense_Mutation_p.G22S|WDR74_ENST00000278856.4_Missense_Mutation_p.G79S|WDR74_ENST00000311713.7_Missense_Mutation_p.G79S|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.G79S			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	79						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGTCTCTGACCCTGGAATATG	0.642000													8	37					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229038	13229038	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:13229038G>A	ENST00000197268.8	+	11	1723	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	535						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)		CATCCTTCTGGATCTGGCCAA	0.562000													14	26					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92345707	92345707	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:92345707C>T	ENST00000377067.3	+	3	964	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	198						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCGGATGGCTCGCCGGGATGT	0.502000													17	45					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903714	4903714	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4903714G>A	ENST00000380378.1	+	1	666	c.666G>A	c.(664-666)tgG>tgA	p.W222*	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Nonsense_Mutation_p.W195*	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAAACCTTGGATCAGCAGTT	0.438000													10	50					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436331	179436331	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179436331T>A	ENST00000589042.1	-	326	74752	c.74528A>T	c.(74527-74529)aAt>aTt	p.N24843I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N15778I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N15970I|TTN_ENST00000342992.6_Missense_Mutation_p.N22275I|TTN_ENST00000591111.1_Missense_Mutation_p.N23202I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N15903I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23202							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)			AACAATGTAATTATTGATAGA	0.448000													4	17					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739504	55739504	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:55739504C>T	ENST00000370830.3	-	1	858	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	BMP5_ENST00000446683.2_Missense_Mutation_p.E54K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	54					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.E54K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGAGAATTTCCCTTTGTATT	0.438000													27	48					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662563	113662563	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:113662563G>A	ENST00000297405.5	-	19	3264	c.3020C>T	c.(3019-3021)aCg>aTg	p.T1007M	CSMD3_ENST00000455883.2_Missense_Mutation_p.T903M|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1007M|CSMD3_ENST00000343508.3_Missense_Mutation_p.T967M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1007						integral to membrane|plasma membrane		p.T1007K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAAGAATACGTGTTCACTGT	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	83					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934658	30934658	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:30934658C>T	ENST00000355537.3	+	2	336	c.189C>T	c.(187-189)tcC>tcT	p.S63S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCCGCATCCCTGGAGGAGA	0.672000													15	42					0	0	1	0	0
KLK10	5655	broad.mit.edu	37	19	51518141	51518141	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:51518141G>A	ENST00000309958.3	-	6	964	c.746C>T	c.(745-747)cCc>cTc	p.P249L	KLK10_ENST00000391805.1_Missense_Mutation_p.P249L|KLK10_ENST00000358789.3_Missense_Mutation_p.P249L	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	249	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		AGAGCCACAGGGGTAAACACC	0.537000													5	26					0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244756721	244756721	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:244756721G>A	ENST00000366534.4	+	16	2268	c.2214G>A	c.(2212-2214)tcG>tcA	p.S738S	C1orf101_ENST00000366533.4_Silent_p.S738S|C1orf101_ENST00000366531.3_Silent_p.S587S|C1orf101_ENST00000473875.1_3'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	738						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCAGCCATCGAAAAACTTGG	0.323000													9	18					0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47694918	47694918	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:47694918C>T	ENST00000408988.2	+	1	77	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001123065.1	NP_001116537.1	Q6ZTY9	CG065_HUMAN	chromosome 7 open reading frame 65	14										endometrium(1)|lung(2)	3						GAAGACGGCTCTGGCCGGGCC	0.617000													16	34					0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46615714	46615714	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:46615714C>T	ENST00000396000.2	+	6	779	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	PPARA_ENST00000434345.2_Intron|PPARA_ENST00000402126.1_Missense_Mutation_p.R172C|PPARA_ENST00000407236.1_Missense_Mutation_p.R172C|PPARA_ENST00000262735.5_Missense_Mutation_p.R172C			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	172					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding	p.R172C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTAGCGATTCGTTTTGGACG	0.493000													15	36					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102494	66102494	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:66102494G>A	ENST00000311320.4	-	6	902	c.776C>T	c.(775-777)cCa>cTa	p.P259L	RIN1_ENST00000530056.1_Missense_Mutation_p.P154L|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.P154L	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	259	Pro-rich.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCAGGTGGAGACAGGGG	0.667000													9	30					0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176860632	176860632	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:176860632G>A	ENST00000355472.5	+	8	861	c.693G>A	c.(691-693)gcG>gcA	p.A231A	GRK6_ENST00000393576.3_Silent_p.A231A|GRK6_ENST00000528793.1_Silent_p.A231A|GRK6_ENST00000507633.1_Silent_p.A231A|GRK6_ENST00000355958.5_Silent_p.A231A	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	231	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			AGGCCATGGCGCTGAACGAGA	0.557000													19	49					0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110310775	110310775	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:110310775G>A	ENST00000356688.4	-	9	1365	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A	SEPT10_ENST00000545389.1_Silent_p.A183A|SEPT10_ENST00000437928.1_Silent_p.A335A|SEPT10_ENST00000397714.2_Silent_p.A327A|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000397712.2_Silent_p.A350A|SEPT10_ENST00000334001.6_Silent_p.A217A|SEPT10_ENST00000415095.1_Silent_p.A350A			Q9P0V9	SEP10_HUMAN	septin 10	350					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATGTCTTTTGGCTTCATAGG	0.418000													16	45					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427974	10427974	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10427974G>A	ENST00000245503.5	-	35	5368	c.4984C>T	c.(4984-4986)Cac>Tac	p.H1662Y	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.H1662Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TCATCCAGGTGGATCTGGGTA	0.552000													12	37					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772855	27772855	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:27772855C>T	ENST00000261588.4	+	19	3772	c.3753C>T	c.(3751-3753)tcC>tcT	p.S1251S		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1251										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCTCTGCTTCCCCCAGAGACT	0.582000													13	39					0	0	1	0	0
DYDC2	84332	broad.mit.edu	37	10	82122220	82122220	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:82122220G>A	ENST00000372199.1	+	4	619	c.21G>A	c.(19-21)aaG>aaA	p.K7K	DYDC2_ENST00000372198.1_Silent_p.K21K|DYDC2_ENST00000444807.2_Silent_p.K7K|DYDC2_ENST00000256039.2_Silent_p.K7K|DYDC2_ENST00000372197.1_Silent_p.K7K			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	7							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ACTACCTGAAGAGGTGCTTTG	0.433000													11	19					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973803	235973803	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:235973803G>A	ENST00000389794.3	-	5	489	c.315C>T	c.(313-315)atC>atT	p.I105I	LYST_ENST00000389793.2_Silent_p.I105I|LYST_ENST00000536965.1_Silent_p.I105I			Q99698	LYST_HUMAN	lysosomal trafficking regulator	105					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTGGTCAGGATTATATCTG	0.353000													9	25					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044486	56044486	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:56044486G>A	ENST00000244728.5	-	3	927	c.530C>T	c.(529-531)gCc>gTc	p.A177V	COL21A1_ENST00000370819.1_Missense_Mutation_p.A177V|COL21A1_ENST00000535941.1_Missense_Mutation_p.A177V	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	177	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTAAGTTCGGCATCTTCTGT	0.393000													3	19					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867567	6867567	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:6867567C>T	ENST00000299454.4	+	1	685	c.654C>T	c.(652-654)tcC>tcT	p.S218S	OR10A5_ENST00000379831.2_Silent_p.S222S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTTGTGTTCCTATACTCGCA	0.498000													23	73					0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25223360	25223360	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:25223360G>A	ENST00000444203.2	+	7	1631	c.592G>A	c.(592-594)Ggt>Agt	p.G198S	SNRPN_ENST00000390687.4_Missense_Mutation_p.G194S|SNRPN_ENST00000400098.1_Missense_Mutation_p.G194S|SNRPN_ENST00000577565.1_Missense_Mutation_p.G194S|SNRPN_ENST00000400097.1_Missense_Mutation_p.G194S|SNRPN_ENST00000554227.2_Missense_Mutation_p.G198S|SNRPN_ENST00000400100.1_Missense_Mutation_p.G194S|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.G194S			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	194	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TCCTCCACCTGGTATGAGACC	0.507000									Prader-Willi syndrome				33	86					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61829428	61829428	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:61829428G>A	ENST00000280772.1	-	37	11402	c.11211C>T	c.(11209-11211)ggC>ggT	p.G3737G	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3737					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTCCAGGGCCTTCTTTCT	0.418000													26	46					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106980	14106980	+	Missense_Mutation	SNP	A	A	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:14106980A>T	ENST00000235372.7	+	8	3546	c.2690A>T	c.(2689-2691)aAt>aTt	p.N897I	PRDM2_ENST00000413440.1_Missense_Mutation_p.N696I|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.N897I|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.N696I	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	897						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)		AATGAATATAATGGCATCGAT	0.478000													16	47					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23099047	23099047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:23099047G>A	ENST00000219689.7	-	8	1524	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	509					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTACAAACCTGAATGCAAACC	0.388000													5	18					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436147	56436147	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:56436147G>A	ENST00000327381.5	+	3	1414	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	438						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGGTGGTGGGGATTATCTATA	0.438000													65	106					0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34320693	34320693	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:34320693C>T	ENST00000257209.4	+	18	3248	c.3126C>T	c.(3124-3126)atC>atT	p.I1042I	FHOD3_ENST00000591635.1_Silent_p.I238I|FHOD3_ENST00000592128.1_Silent_p.I21I|FHOD3_ENST00000590592.1_Silent_p.I1217I|FHOD3_ENST00000359247.4_Silent_p.I1025I|FHOD3_ENST00000445677.1_Silent_p.I1004I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1025	FH2.				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)				ACCCTGAAATCCCCCTGGGCA	0.483000													5	14					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057169	40057169	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:40057169C>T	ENST00000336649.4	+	19	2773	c.2773C>T	c.(2773-2775)Cca>Tca	p.P925S	CACNA1I_ENST00000407673.1_Missense_Mutation_p.P884S|CACNA1I_ENST00000404898.1_Missense_Mutation_p.P884S|CACNA1I_ENST00000402142.3_Missense_Mutation_p.P919S|CACNA1I_ENST00000401624.1_Missense_Mutation_p.P919S|CACNA1I_ENST00000400164.3_Missense_Mutation_p.P884S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	919					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCAGTCTCCCACTGGGTGG	0.662000													5	16					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767608	57767608	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:57767608G>A	ENST00000371030.2	+	1	1534	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	512						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCGTCGAGGGCTCCAGGAC	0.701000													7	12					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1128877	1128877	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:1128877C>T	ENST00000293897.4	+	1	97	c.9C>T	c.(7-9)ccC>ccT	p.P3P	SSTR5_ENST00000397547.2_Silent_p.P3P|SSTR5_ENST00000562758.1_Silent_p.P3P	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	3					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCATGGAGCCCCTGTTCCCAG	0.692000													4	12					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26792968	26792968	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:26792968A>C	ENST00000541819.2	-	10	1664	c.1562T>G	c.(1561-1563)tTa>tGa	p.L521*	GABRB3_ENST00000299267.4_Nonsense_Mutation_p.L465*|GABRB3_ENST00000311550.5_Nonsense_Mutation_p.L465*|GABRB3_ENST00000545868.1_Nonsense_Mutation_p.L380*|GABRB3_ENST00000400188.3_Nonsense_Mutation_p.L394*			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	465					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGTAAACTAAGTTGAAAAG	0.353000													5	22					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128697	152128697	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152128697G>A	ENST00000316073.3	-	3	942	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	293	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACCGTAGTGGGAACTCTGGCC	0.498000													101	244					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147790229	147790229	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:147790229A>G	ENST00000340253.5	+	9	1162	c.994A>G	c.(994-996)Acc>Gcc	p.T332A	FBXO38_ENST00000296701.6_Missense_Mutation_p.T332A|FBXO38_ENST00000394370.3_Missense_Mutation_p.T332A|FBXO38_ENST00000513826.1_Missense_Mutation_p.T332A			Q6PIJ6	FBX38_HUMAN	F-box protein 38	332						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTCCCTAACCAAAGATGG	0.398000													29	75					0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69782869	69782869	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:69782869G>A	ENST00000268802.5	-	6	707	c.678C>T	c.(676-678)gtC>gtT	p.V226V		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	226						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGTCCTCGGGGACGTCACACT	0.607000													8	24					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416270	121416270	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:121416270G>A	ENST00000393667.3	-	13	3210	c.3100C>T	c.(3100-3102)Ctc>Ttc	p.L1034F	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L1029F	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1029					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTCTCACTGAGTGGGATTTCT	0.368000													11	28					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142567897	142567897	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:142567897A>C	ENST00000389484.3	-	2	1127	c.156T>G	c.(154-156)tgT>tgG	p.C52W	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	52	LDL-receptor class A 1.				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)		GGTCCCCATCACACAGCCAGC	0.438000										TSP Lung(27;0.18)			5	14					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157815	26157815	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:26157815G>A	ENST00000325250.1	+	2	900	c.713G>A	c.(712-714)gGg>gAg	p.G238E		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	238	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TTCCTCTATGGGGATCCCAGG	0.493000													7	0					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189026074	189026074	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:189026074C>T	ENST00000512729.1	-	2	426	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	TRIML2_ENST00000326754.3_Missense_Mutation_p.E18K|TRIML2_ENST00000536972.1_Missense_Mutation_p.E68K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	18							ligase activity			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)		TTCAATATTTCCTGGAATAAC	0.393000													15	35					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109191331	109191331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:109191331G>A	ENST00000370032.5	-	8	1459	c.1039C>T	c.(1039-1041)Ctt>Ttt	p.L347F	HENMT1_ENST00000402983.1_Missense_Mutation_p.L347F|HENMT1_ENST00000370031.1_Missense_Mutation_p.L378F	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	347					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						GGATACGCAAGGAGTCTCTGC	0.463000													8	24					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457371	110457371	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110457371C>T	ENST00000378402.5	+	38	5377	c.5273C>T	c.(5272-5274)tCt>tTt	p.S1758F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1758	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1760Y(1)		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)			TTCCCAAACTCTGTCATAGGA	0.418000										HNSCC(38;0.096)			43	48					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031904	33031904	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:33031904C>T	ENST00000340811.4	-	2	394	c.286G>A	c.(286-288)Gat>Aat	p.D96N	PKP2_ENST00000070846.6_Missense_Mutation_p.D96N	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	96					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAACAAAATCATTTTCAACC	0.378000													13	31					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21083628	21083628	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:21083628G>A	ENST00000255882.6	-	39	4741	c.4655C>T	c.(4654-4656)cCc>cTc	p.P1552L	PI4KA_ENST00000414196.3_Missense_Mutation_p.P304L|PI4KA_ENST00000572273.1_Missense_Mutation_p.P1494L	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1494					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCTAGGTAGGGAGAGATGCT	0.632000													3	16					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61450224	61450224	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:61450224A>C	ENST00000398571.2	-	64	7796	c.7720T>G	c.(7720-7722)Tgt>Ggt	p.C2574G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2574					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGTATCGACACAGGCTGAAA	0.348000													6	18					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934353	136934353	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:136934353T>G	ENST00000359015.4	-	17	2680	c.2320A>C	c.(2320-2322)Aaa>Caa	p.K774Q	MAP3K5_ENST00000355845.4_Missense_Mutation_p.K21Q	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	774	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCATTGTCTTTTAATGGACCC	0.358000													9	15					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30792450	30792450	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:30792450C>T	ENST00000256079.4	-	21	2826	c.2489_splice	c.e21+1	p.G830_splice	IPO8_ENST00000544829.1_Splice_Site_p.G625_splice	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	830					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACACATACCCAAGAAAACAA	0.333000													15	31					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50008459	50008459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:50008459C>T	ENST00000451037.2	-	3	1110	c.170G>A	c.(169-171)tGg>tAg	p.W57*	CA10_ENST00000285273.4_Nonsense_Mutation_p.W57*|CA10_ENST00000340813.6_Nonsense_Mutation_p.W63*|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Nonsense_Mutation_p.W57*	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	57					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			GCAAAGATTCCAAGCTGAGTT	0.453000													18	71					0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88857312	88857312	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:88857312G>A	ENST00000303236.3	-	17	3594	c.3293C>T	c.(3292-3294)tCg>tTg	p.S1098L	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.S947L|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	1098					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTTGTTCCCGATGAACTCAA	0.433000													15	63					0	0	1	0	0
OR8A1	390275	broad.mit.edu	37	11	124440662	124440662	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:124440662C>T	ENST00000284287.3	+	1	770	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		GTTCTTGTTTCTTACACCTTC	0.502000													12	23					0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927515	55927515	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:55927515G>A	ENST00000313447.1	-	1	278	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGCATAATAGGAAATAGTAT	0.398000													19	43					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575519	49575519	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:49575519C>T	ENST00000244051.1	+	1	157	c.140C>T	c.(139-141)tCg>tTg	p.S47L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	47					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						GTTCCGGTGTCGCCGCTGCCG	0.637000													61	84					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167943	76167943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:76167943G>A	ENST00000588282.1	+	3	696	c.690G>A	c.(688-690)tgG>tgA	p.W230*	SYNGR2_ENST00000590201.1_Missense_Mutation_p.D145N|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000585591.1_Missense_Mutation_p.D201N|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000225777.3_Missense_Mutation_p.D201N	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			TGCATCTGTGGACAACTACCA	0.627000													26	81					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161016426	161016426	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:161016426C>T	ENST00000447678.1	-	22	3549	c.3429G>A	c.(3427-3429)acG>acA	p.T1143T	LPA_ENST00000316300.5_Silent_p.T1143T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3651	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGGACCACCGTGAGAGTTG	0.512000													19	45					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37242588	37242588	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:37242588G>A	ENST00000338564.5	-	10	1360	c.914C>T	c.(913-915)tCc>tTc	p.S305F	MEIS2_ENST00000340545.5_Missense_Mutation_p.S292F|MEIS2_ENST00000559561.1_Missense_Mutation_p.S305F|MEIS2_ENST00000444725.1_Missense_Mutation_p.S305F|MEIS2_ENST00000219869.9_Missense_Mutation_p.S159F|MEIS2_ENST00000397620.2_Missense_Mutation_p.S217F|MEIS2_ENST00000557796.2_Missense_Mutation_p.S292F|MEIS2_ENST00000382766.2_Missense_Mutation_p.S305F|MEIS2_ENST00000561208.1_Missense_Mutation_p.S305F|MEIS2_ENST00000397624.3_Missense_Mutation_p.S217F|MEIS2_ENST00000559085.1_Missense_Mutation_p.S292F|MEIS2_ENST00000424352.2_Missense_Mutation_p.S305F	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	305					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S305F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTGCTCTTCGGAAGGGTACGG	0.393000													30	63					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018303	161018303	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:161018303C>T	ENST00000368013.3	-	12	2828	c.2508G>A	c.(2506-2508)aaG>aaA	p.K836K	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Silent_p.K659K	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	836	Glu-rich.				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)			TCTCCCGTTCCTTGCTGACCT	0.562000													24	72					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379078	25379078	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:25379078C>T	ENST00000315368.3	+	2	171	c.29C>T	c.(28-30)tCc>tTc	p.S10F	ANAPC4_ENST00000510092.1_Missense_Mutation_p.S10F	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGTTTCCCATCCTTCCGGGTG	0.632000													10	20					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11082809	11082809	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:11082809G>A	ENST00000304623.8	-	16	2976	c.2788_splice	c.e16+1	p.I929_splice	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Splice_Site_p.I592_splice|CTNND2_ENST00000458100.2_Splice_Site_p.I496_splice|CTNND2_ENST00000511377.1_Splice_Site_p.I838_splice|CTNND2_ENST00000359640.2_Splice_Site_p.I871_splice	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	929					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.I929I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGAACATACCGATGAGCTCCT	0.507000													14	54					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35709098	35709098	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:35709098C>T	ENST00000440995.2	+	19	2699	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.S900F|SPEF2_ENST00000356031.3_Missense_Mutation_p.S905F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	905					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAGCAGCTTCCCTGGCTGAG	0.418000													11	23					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131916173	131916173	+	Silent	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:131916173A>G	ENST00000286355.5	-	7	3848	c.1756T>C	c.(1756-1758)Tta>Cta	p.L586L	ADCY8_ENST00000377928.3_Silent_p.L586L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	586					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGCTTAATTAAGTAAGTTTCG	0.488000										HNSCC(32;0.087)			70	90					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230708	21230708	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:21230708C>T	ENST00000233242.1	-	26	9159	c.9032G>A	c.(9031-9033)gGa>gAa	p.G3011E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3011					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)	CTTCCCTTCTCCAAACAGTGC	0.423000													16	35					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50826917G>A	ENST00000376959.2	-	2	1456	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.F431F			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000													8	27					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:21971209T>A	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	8					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49691914	49691914	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:49691914C>T	ENST00000252826.5	+	13	1886	c.1760C>T	c.(1759-1761)tCc>tTc	p.S587F	TRPM4_ENST00000427978.2_Missense_Mutation_p.S587F|TRPM4_ENST00000355712.5_Missense_Mutation_p.S233F	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	587					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AATGCAGTTTCCTCAGCTCTT	0.577000													7	32					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91430287	91430287	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:91430287G>A	ENST00000328850.3	+	4	626	c.484_splice	c.e4+1	p.D162_splice	FES_ENST00000444422.2_Splice_Site_p.D162_splice|FES_ENST00000394300.3_Splice_Site_p.D104_splice|FES_ENST00000394302.1_Splice_Site_p.D104_splice|FES_ENST00000414248.2_Splice_Site_p.D104_splice|FES_ENST00000450438.2_Splice_Site_p.D104_splice	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	162	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCCAGCAAAGGTTCGTGGCT	0.617000													15	25					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164908542	164908542	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:164908542C>T	ENST00000475390.1	-	2	520	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SLITRK3_ENST00000241274.3_Missense_Mutation_p.G26E			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	26						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GGTAGTCCATCCTAGAGCAAT	0.418000										HNSCC(40;0.11)			5	21					0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52194178	52194178	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:52194178C>G	ENST00000282588.6	+	11	1732	c.1274C>G	c.(1273-1275)tCt>tGt	p.S425C		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	425					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGTTGAGTCTACCAAAAAG	0.348000													6	19					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41546095	41546095	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:41546095C>T	ENST00000396942.1	-	34	4200	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	ANK1_ENST00000379758.2_Missense_Mutation_p.E1373K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1373K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1414K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1373K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1373K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1373K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1373					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTATCTTCGGCTCCACTT	0.567000													18	11					0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	735959	735959	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:735959C>T	ENST00000293883.4	-	5	2242	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	WDR24_ENST00000248142.6_Missense_Mutation_p.G625S	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	625										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTCTCACTGCCCAACCCTGGG	0.657000													13	53					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887766	3887766	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:3887766G>A	ENST00000319331.3	+	2	2202	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	481	Ig-like C2-type.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GCTAAGTAGCGAAGGTACCTT	0.438000													11	42					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921353	24921353	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:24921353C>T	ENST00000329468.2	+	1	813	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.S113S(1)									ACCCCAGTTCCGTAAGGATCC	0.662000													21	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061180	9061180	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9061180G>A	ENST00000397910.4	-	3	26469	c.26266C>T	c.(26266-26268)Cct>Tct	p.P8756S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8758	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						GATTGAGCAGGACCTGGGGTG	0.498000													12	42					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314407	54314407	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54314407G>A	ENST00000324134.6	-	3	674	c.506C>T	c.(505-507)cCc>cTc	p.P169L	NLRP12_ENST00000351894.4_Missense_Mutation_p.P169L|NLRP12_ENST00000354278.3_Missense_Mutation_p.P169L|NLRP12_ENST00000391775.3_Missense_Mutation_p.P169L|NLRP12_ENST00000391773.1_Missense_Mutation_p.P169L|NLRP12_ENST00000345770.5_Missense_Mutation_p.P169L|NLRP12_ENST00000391772.1_Missense_Mutation_p.P169L|NLRP12_ENST00000535162.1_Missense_Mutation_p.P169L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	169					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)		GACCTGCATGGGGTTTGAGTG	0.607000													21	51					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141232866	141232866	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:141232866C>T	ENST00000389484.3	-	60	10437	c.9466G>A	c.(9466-9468)Ggc>Agc	p.G3156S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					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)		CCAACACGGCCAATATGAGGA	0.368000										TSP Lung(27;0.18)			7	31					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393000													29	100					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140797872	140797872	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140797872G>A	ENST00000398594.2	+	1	446	c.446G>A	c.(445-447)gGg>gAg	p.G149E	PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCAGCCTGGGGATGGGAACA	0.408000													9	26					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573677	106573677	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:106573677C>T	ENST00000407775.2	+	4	638	c.388C>T	c.(388-390)Cct>Tct	p.P130S	ZFPM2_ENST00000517361.1_5'UTR|ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	130					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGGCCGTTTCCTGGGAAGAT	0.433000													19	24					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239148	3239148	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3239148C>T	ENST00000217939.6	-	5	4732	c.4578G>A	c.(4576-4578)aaG>aaA	p.K1526K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1526						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAACATTTTCCTTGGAATCTC	0.438000													26	16					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098891	82098891	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:82098891C>T	ENST00000421924.2	-	5	772	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	DYDC1_ENST00000372204.3_Missense_Mutation_p.E121K|DYDC1_ENST00000372202.1_Missense_Mutation_p.E121K			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	121										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			ACTAGATTTTCCATATTCATT	0.254000													3	6					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1323954	1323954	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:1323954G>A	ENST00000320895.5	-	12	1485	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.P241S|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.P374S	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	410					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACACAGAGAGGGTACAGCAGG	0.522000													6	16					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812490	52812490	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52812490C>T	ENST00000273283.2	+	3	297	c.273C>T	c.(271-273)atC>atT	p.I91I	ITIH1_ENST00000542827.1_Silent_p.I91I	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	91	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCTGGAAATCCCCAAGACAG	0.547000													4	35					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62579784	62579784	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:62579784G>A	ENST00000371158.2	+	35	4635	c.4521G>A	c.(4519-4521)caG>caA	p.Q1507Q	INADL_ENST00000545929.1_Silent_p.Q152Q|INADL_ENST00000543708.1_Silent_p.Q321Q|INADL_ENST00000316485.6_Silent_p.Q1537Q	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1507	PDZ 8.				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						CCCTGAGGCAGACCCCCCAGA	0.557000													6	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654825	179654825	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179654825C>T	ENST00000589042.1	-	12	2042	c.1818G>A	c.(1816-1818)agG>agA	p.R606R	TTN_ENST00000460472.2_Silent_p.R560R|TTN_ENST00000342175.6_Silent_p.R560R|TTN_ENST00000342992.6_Silent_p.R606R|TTN_ENST00000591111.1_Silent_p.R606R|TTN_ENST00000360870.5_Silent_p.R606R|TTN_ENST00000359218.5_Silent_p.R560R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	606							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)			CAACTGTTTTCCTAGTTTCCT	0.313000													8	14					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42251637	42251637	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:42251637C>T	ENST00000341421.3	+	13	2142	c.1949C>T	c.(1948-1950)cCt>cTt	p.P650L	TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	0					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACGATAAGTCCTGTAAACTTG	0.607000													37	116					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132648412	132648412	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:132648412G>A	ENST00000265342.7	-	6	910	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	221						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCGGAGGAGGTCACCTGGT	0.517000													6	19					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188090	152188090	+	Silent	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152188090T>C	ENST00000368801.2	-	3	6090	c.6015A>G	c.(6013-6015)caA>caG	p.Q2005Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2005					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGATCCATGTTGACCGTAGC	0.562000													41	776					0	0	1	0	0
LYSMD2	256586	broad.mit.edu	37	15	52015842	52015842	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:52015842C>T	ENST00000267838.3	-	3	1124	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	LYSMD2_ENST00000558126.1_Missense_Mutation_p.E97K|LYSMD2_ENST00000454181.2_Missense_Mutation_p.E113K|LYSMD2_ENST00000560491.1_Missense_Mutation_p.E113K	NM_153374.2	NP_699205.1	Q8IV50	LYSM2_HUMAN	LysM, putative peptidoglycan-binding, domain containing 2	204					cell wall macromolecule catabolic process					lung(2)|upper_aerodigestive_tract(1)	3				all cancers(107;0.00258)		GGACTTTCTTCATCTCTGAAA	0.338000													7	25					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223983955	223983955	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:223983955C>T	ENST00000391878.2	-	14	2667	c.1899G>A	c.(1897-1899)agG>agA	p.R633R	TP53BP2_ENST00000343537.7_Silent_p.R762R|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_5'UTR	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	756					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	p.R762R(1)|p.R633R(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		CTATGGTGGTCCTCTGATATA	0.473000													19	59					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49186320	49186320	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:49186320G>C	ENST00000340334.7	-	14	1700	c.1332C>G	c.(1330-1332)aaC>aaG	p.N444K	FOLH1_ENST00000533034.1_Missense_Mutation_p.N444K|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.N459K|FOLH1_ENST00000356696.3_Missense_Mutation_p.N459K|FOLH1_ENST00000343844.4_Missense_Mutation_p.N151K	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	459	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TCAGAGTGTAGTTTCCTGAAA	0.294000													3	18					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349094	100349094	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:100349094C>T	ENST00000437033.2	-	5	903	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	ADH7_ENST00000476959.1_Missense_Mutation_p.G154S|ADH7_ENST00000482593.1_Missense_Mutation_p.G77S|ADH7_ENST00000209665.4_Missense_Mutation_p.G146S			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	146					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ACTGGTTTGCCCTTGCATGTA	0.408000													14	57					0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429486	4429486	+	Missense_Mutation	SNP	G	G	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:4429486G>C	ENST00000301280.5	+	9	1757	c.1656G>C	c.(1654-1656)agG>agC	p.R552S		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	552					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGAGGAGGAAGTTTGGCA	0.592000								Chromatin Structure					11	34					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175907	51175907	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:51175907C>T	ENST00000251020.4	-	2	259	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	76					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGATTTTCATTTACGATT	0.443000													22	71					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42964963	42964963	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:42964963C>T	ENST00000399770.2	+	2	439	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	147	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CACCTGCCTTCGTGTGGTCCG	0.388000													38	71					0	0	1	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888005	37888005	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:37888005G>A	ENST00000377716.2	-	3	1286	c.543C>T	c.(541-543)ttC>ttT	p.F181F	SLC25A51_ENST00000496760.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000242275.6_Silent_p.F181F|SLC25A51_ENST00000380590.3_Silent_p.F181F			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	181					transport	integral to membrane|mitochondrial inner membrane											GTCCATTCCGGAAAAGAATGG	0.458000													19	30					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				26	39					0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43175053	43175053	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:43175053G>A	ENST00000398795.2	+	4	617	c.249G>A	c.(247-249)aaG>aaA	p.K83K	TNFSF11_ENST00000405262.2_Silent_p.K83K|TNFSF11_ENST00000358545.2_Silent_p.K83K|TNFSF11_ENST00000544862.1_Silent_p.K83K|TNFSF11_ENST00000239849.6_Silent_p.K156K	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	156					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATCTGGCCAAGAGGAGCAAGC	0.438000													11	31					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152584256	152584256	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:152584256G>A	ENST00000427231.2	-	5	445	c.243C>T	c.(241-243)ttC>ttT	p.F81F	NEB_ENST00000603639.1_Silent_p.F81F|NEB_ENST00000604864.1_Silent_p.F81F|NEB_ENST00000172853.10_Silent_p.F81F|NEB_ENST00000397345.3_Silent_p.F81F|NEB_ENST00000409198.1_Silent_p.F81F	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	81					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGGGTCATGAACTTTGAAG	0.473000													5	23					0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14526459	14526459	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:14526459G>A	ENST00000454876.2	+	15	2136	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V603I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	603					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCTCGCACCGTCATGAACGG	0.592000													6	14					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													3	60					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15740185	15740185	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:15740185C>T	ENST00000441682.2	+	0	1641							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						CAGTGACCCACCCACCTACCT	0.582000													4	7					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6759218	6759218	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:6759218G>A	ENST00000378827.4	+	3	1892	c.673G>A	c.(673-675)Gga>Aga	p.G225R		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	225					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CGCCAACCATGGATTCGTGGT	0.522000													8	24					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633872	70633872	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:70633872C>T	ENST00000381269.2	-	2	2021	c.1268G>A	c.(1267-1269)gGa>gAa	p.G423E	SLC8A3_ENST00000357887.3_Missense_Mutation_p.G423E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G423E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G423E|SLC8A3_ENST00000356921.2_Missense_Mutation_p.G423E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	423	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TGACATGTCTCCCCCTTTCCT	0.507000													21	50					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628037	19628037	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:19628037G>A	ENST00000438132.3	+	14	1446	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	C16orf62_ENST00000417362.2_Intron|C16orf62_ENST00000251143.5_Silent_p.L377L|C16orf62_ENST00000543152.1_Silent_p.L126L|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000448695.1_Silent_p.L227L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	377						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AGAACCAGCTGGTGGTCCAAG	0.512000													10	28					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44451270	44451270	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:44451270G>A	ENST00000356836.6	+	6	1735	c.945G>A	c.(943-945)aaG>aaA	p.K315K	B4GALT2_ENST00000372324.1_Silent_p.K315K|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000309519.7_Silent_p.K344K|B4GALT2_ENST00000434555.2_Silent_p.K249K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	315				KH -> ND (in Ref. 2; AAC39733).	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ACCGCGACAAGCATAACGAAC	0.582000													12	47					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137773440	137773440	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:137773440G>A	ENST00000242375.3	+	2	229	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	AKR1D1_ENST00000468877.2_Intron|AKR1D1_ENST00000432161.1_Missense_Mutation_p.E63K|AKR1D1_ENST00000411726.2_Missense_Mutation_p.E63K	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	63					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						AAATGAACACGAAGTTGGGGA	0.502000													3	17					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	37903743	37903743	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:37903743G>A	ENST00000261439.4	+	2	382	c.27G>A	c.(25-27)agG>agA	p.R9R	TBC1D1_ENST00000508802.1_Silent_p.R9R|TBC1D1_ENST00000402522.1_Silent_p.R9R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	9						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACAGCAAGGAAACATCTGC	0.493000													20	69					0	0	1	0	0
CDX1	1044	broad.mit.edu	37	5	149562428	149562428	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:149562428C>T	ENST00000231656.8	+	2	625	c.543C>T	c.(541-543)atC>atT	p.I181I		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	181						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCACAATCCGGCGGAAAT	0.557000													22	84					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31375151	31375151	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:31375151G>A	ENST00000328111.2	+	6	869	c.548G>A	c.(547-549)aGc>aAc	p.S183N	DNMT3B_ENST00000348286.2_Missense_Mutation_p.S183N|DNMT3B_ENST00000456297.2_Missense_Mutation_p.S107N|DNMT3B_ENST00000443239.3_Missense_Mutation_p.S141N|DNMT3B_ENST00000375623.4_Missense_Mutation_p.S141N|DNMT3B_ENST00000201963.3_Missense_Mutation_p.S195N|DNMT3B_ENST00000353855.2_Missense_Mutation_p.S183N|DNMT3B_ENST00000344505.4_Missense_Mutation_p.S183N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	183	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACGCCCCAGAGCAGCAGTACC	0.637000													49	58					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2473417	2473417	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:2473417C>T	ENST00000258711.6	+	2	1278	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F		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	381					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)		AGGACTGGTTCGCCAAGATCC	0.637000													22	32					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761472	96761472	+	Silent	SNP	G	G	T	rs111350017		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:96761472G>T	ENST00000295266.4	+	1	234	c.171G>T	c.(169-171)gcG>gcT	p.A57A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	57					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			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)	TCACTAGGGCGGAGGGGCTTA	0.463000													13	26					0.0167234	0.0168019	1	1	0
TRHDE	29953	broad.mit.edu	37	12	72680608	72680608	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:72680608C>T	ENST00000261180.4	+	2	1023	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	309					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.S309S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGGAAACTTCCGTGTTTGAGG	0.403000													12	61					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200960266	200960266	+	Silent	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:200960266C>A	ENST00000332129.2	-	18	2782	c.2466G>T	c.(2464-2466)ctG>ctT	p.L822L	KIF21B_ENST00000461742.2_Silent_p.L822L|KIF21B_ENST00000360529.5_Silent_p.L822L|KIF21B_ENST00000422435.2_Silent_p.L822L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	822					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGGCGCCTCAGTGCAGAAA	0.667000													5	19					0.000602214	0.000607896	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160886667	160886667	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:160886667G>A	ENST00000274547.2	-	5	638	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	GABRB2_ENST00000353437.6_Missense_Mutation_p.R141C|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141C|GABRB2_ENST00000517901.1_Missense_Mutation_p.R78C|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141C	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	p.R141C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGATGCAGGCGAATCATGCGG	0.448000													7	25					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60503331	60503331	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:60503331G>A	ENST00000360469.5	+	12	1943	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K	CDH4_ENST00000543233.1_Missense_Mutation_p.E545K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	619	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGCCCAAGGAGGCGCAGAT	0.627000													138	154					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773673	58773673	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:58773673G>A	ENST00000269829.4	+	7	2175	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.Q539Q|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Silent_p.Q567Q|ZNF544_ENST00000600044.1_Silent_p.Q539Q|ZNF544_ENST00000599953.1_Silent_p.Q425Q|ZNF544_ENST00000599227.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Silent_p.Q539Q	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q567H(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATACATCAGAGAATTCATA	0.418000													17	61					0	0	1	0	0
ELMSAN1	91748	broad.mit.edu	37	14	74205722	74205722	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:74205722G>A	ENST00000286523.5	-	2	1772	c.990C>T	c.(988-990)gcC>gcT	p.A330A	ELMSAN1_ENST00000394071.2_Silent_p.A330A	NM_194278.3	NP_919254.2			ELM2 and Myb/SANT-like domain containing 1																		CTGGCTGCGGGGCTGAGTCCT	0.667000													3	10					0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25379079	25379079	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:25379079C>T	ENST00000315368.3	+	2	172	c.30C>T	c.(28-30)tcC>tcT	p.S10S	ANAPC4_ENST00000510092.1_Silent_p.S10S	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	10					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GTTTCCCATCCTTCCGGGTGG	0.632000													10	21					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563296	140563296	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140563296G>A	ENST00000361016.2	+	1	2317	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		388	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCCAGGAAGACCTTCCCTT	0.463000													14	29					0	0	1	0	0
PHF5A	84844	broad.mit.edu	37	22	41864614	41864614	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:41864614G>A	ENST00000216252.3	-	1	115	c.44C>T	c.(43-45)gCt>gTt	p.A15V		NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	15					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						ACCAACACCAGCCTGCTTGCG	0.587000													9	31					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33329915	33329915	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:33329915G>A	ENST00000374796.2	-	12	6715	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1382V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1382					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGGGGGATTGGCCAGAGGAGT	0.502000													23	34					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681240	44681240	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:44681240C>T	ENST00000590089.1	+	7	2192	c.1825C>T	c.(1825-1827)Cac>Tac	p.H609Y	ZNF226_ENST00000337433.5_Missense_Mutation_p.H609Y|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.H609Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	609					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CTGTAGGATCCACACAGGAGA	0.458000													9	54					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35763277	35763277	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:35763277G>A	ENST00000187397.4	+	14	1632	c.1176G>A	c.(1174-1176)agG>agA	p.R392R	ARPP21_ENST00000417925.1_Silent_p.R358R|ARPP21_ENST00000337271.5_Silent_p.R338R|ARPP21_ENST00000444190.1_Silent_p.R338R|ARPP21_ENST00000458225.1_Silent_p.R358R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	392	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCTGACCAGGGGTGACAGCA	0.522000													6	7					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56615411	56615411	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:56615411G>A	ENST00000336078.4	+	7	3594	c.2818G>A	c.(2818-2820)Gac>Aac	p.D940N	ZNF532_ENST00000591230.1_Missense_Mutation_p.D940N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D940N|ZNF532_ENST00000589288.1_Missense_Mutation_p.D940N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D940N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGTCCAGACTGTTCTCT	0.418000													14	38					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021865	120021865	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:120021865C>T	ENST00000379551.2	+	3	664	c.307C>T	c.(307-309)Cct>Tct	p.P103S	PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S|PRR16_ENST00000505123.1_Missense_Mutation_p.P56S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	126	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TCCACCACCTCCTCCAAGGTT	0.512000													15	57					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31605980	31605980	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:31605980C>T	ENST00000379416.3	-	11	973	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	309	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGGTTTTTTCCACAATGCTC	0.532000													9	21					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22399165	22399165	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:22399165C>T	ENST00000263160.3	+	12	2065	c.1628C>T	c.(1627-1629)tCt>tTt	p.S543F		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	543					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCACCAAGTCTTATGGTGCC	0.383000													5	27					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18069781	18069781	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:18069781G>A	ENST00000205890.5	+	61	10232	c.9894G>A	c.(9892-9894)tgG>tgA	p.W3298*	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Nonsense_Mutation_p.W562*	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3298	FERM.|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)					GTGTGCTCTGGGATCAGCCAC	0.567000													28	78					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154733	12154733	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:12154733G>A	ENST00000602107.1	-	5	1623	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	ZNF878_ENST00000547628.1_Missense_Mutation_p.L495F|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGGTAGAGAAAAGAGTTG	0.388000													11	23					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189321	58189321	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:58189321G>A	ENST00000318203.5	+	4	1133	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	146					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCTTTTCTGAGGATATGCC	0.453000													13	33					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099745	110099745	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110099745G>A	ENST00000518632.1	+	2	355	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	TRHR_ENST00000311762.2_Missense_Mutation_p.E2K			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	2						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTAAAGATGGAAAACGAGAC	0.458000													12	47					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888361	38888361	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:38888361C>T	ENST00000450244.1	-	26	5398	c.5200G>A	c.(5200-5202)Gaa>Aaa	p.E1734K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1696K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E1734K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1734					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCACCTCTTTCCTCTTCCTTT	0.438000													36	94					0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603488	36603488	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:36603488G>A	ENST00000373166.3	-	4	422	c.332C>T	c.(331-333)cCc>cTc	p.P111L	TRAPPC3_ENST00000373163.1_Missense_Mutation_p.P65L|TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Missense_Mutation_p.P65L	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	111						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				GTCCACCAAGGGGTTATTTTC	0.478000													11	40					0	0	1	0	0
TRBV20-1	28567	broad.mit.edu	37	7	142334609	142334609	+	RNA	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142334609G>A	ENST00000390394.3	+	0	109																											TGTCTCAGCAGGCTCCGGGCT	0.597000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	53					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994811	56994811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:56994811G>A	ENST00000179765.5	-	23	4475	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.R1428*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.R1458*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.R1456*			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1458					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CGGATACCTCGGGGGTGTAGG	0.537000													4	10					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739232	138739232	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:138739232G>A	ENST00000329447.5	-	1	536	c.272C>T	c.(271-273)tCt>tTt	p.S91F	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	91										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCACCGAGAGACACTCGCAG	0.662000													18	29					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275938	130275938	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:130275938C>T	ENST00000257359.6	-	9	2891	c.2185G>A	c.(2185-2187)Gat>Aat	p.D729N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	729	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	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;0.039)|Lung(977;0.213)		TAGTTCCCATCGTTCTGCACA	0.547000													24	70					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457856	110457856	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:110457856G>A	ENST00000378402.5	+	38	5862	c.5758G>A	c.(5758-5760)Gga>Aga	p.G1920R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1920	IPT/TIG 12.				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)			ATTTCTCAGAGGAATTATCCC	0.338000										HNSCC(38;0.096)			7	11					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975556	152975556	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152975556G>A	ENST00000331860.3	+	3	210	c.60G>A	c.(58-60)caG>caA	p.Q20Q	SPRR3_ENST00000295367.4_Silent_p.Q20Q|SPRR3_ENST00000542696.1_Silent_p.Q20Q	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	20					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACAGCAGCAGGTGAAACAAC	0.488000													14	37					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519498	53519498	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:53519498G>A	ENST00000370905.3	-	2	713	c.573C>T	c.(571-573)gcC>gcT	p.A191A	KLHL31_ENST00000407079.1_Silent_p.A191A	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	191	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					TAAATTTCTGGGCTGCTGCTT	0.343000													9	25					0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13229028	13229028	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:13229028C>T	ENST00000197268.8	+	11	1713	c.1593C>T	c.(1591-1593)tcC>tcT	p.S531S		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	531						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)		CGTTCCCCTCCATCCTTCTGG	0.552000													11	34					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876283	74876283	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:74876283C>T	ENST00000331628.3	-	2	412	c.165G>A	c.(163-165)ctG>ctA	p.L55L	SYNDIG1L_ENST00000554823.1_Silent_p.L55L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	55					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						ACCCTGGGTCCAGGAGCTGGT	0.677000													9	17					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170003411	170003411	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:170003411C>T	ENST00000263816.3	-	69	12934	c.12649G>A	c.(12649-12651)Gga>Aga	p.G4217R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4217					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CGGTCCTCTCCATTCATCCAG	0.453000													6	16					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640607	7640607	+	Missense_Mutation	SNP	C	C	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:7640607C>G	ENST00000359156.4	-	7	1699	c.1497G>C	c.(1495-1497)tgG>tgC	p.W499C	CD163_ENST00000396620.3_Missense_Mutation_p.W499C|CD163_ENST00000541972.1_Missense_Mutation_p.W487C|CD163_ENST00000432237.2_Missense_Mutation_p.W499C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	499	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATGGAGCCCCACGTGTCAC	0.507000													6	15					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028015	38028015	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:38028015C>T	ENST00000406772.1	+	16	1974	c.1322C>T	c.(1321-1323)cCc>cTc	p.P441L	GGA1_ENST00000343632.4_Missense_Mutation_p.P514L|GGA1_ENST00000337437.4_Missense_Mutation_p.P481L|GGA1_ENST00000381756.5_Missense_Mutation_p.P531L|GGA1_ENST00000325180.8_Missense_Mutation_p.P427L	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	514	Unstructured hinge.				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)					AACATCCTGCCCGTGACTGTG	0.657000													9	30					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438588	75438588	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:75438588G>A	ENST00000526712.1	+	2	906	c.133G>A	c.(133-135)Ggc>Agc	p.G45S	MOGAT2_ENST00000198801.5_Missense_Mutation_p.G127S			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	127					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGAGAGCACAGGCTTCTCTTC	0.582000													22	66					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328761	152328761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152328761G>A	ENST00000388718.5	-	3	1573	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	501	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGGACTGACCTGAGCCT	0.532000													40	135					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24747815	24747815	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:24747815C>T	ENST00000545231.1	-	9	1579	c.429G>A	c.(427-429)caG>caA	p.Q143Q	DFNA5_ENST00000342947.3_Silent_p.Q307Q|DFNA5_ENST00000419307.1_Silent_p.Q143Q|DFNA5_ENST00000409970.1_Silent_p.Q143Q|DFNA5_ENST00000409775.3_Silent_p.Q307Q			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	307					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCAAAGCTGTCTGTTGTGGCT	0.512000													11	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179611861	179611861	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:179611861C>T	ENST00000360870.5	-	46	15488	c.15266G>A	c.(15265-15267)gGa>gAa	p.G5089E	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1194	Ig-like 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGTCTCTCCTGGGGGTGT	0.532000													19	47					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15851693	15851693	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:15851693G>A	ENST00000338282.6	-	13	1672	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	MYH11_ENST00000576790.1_Silent_p.I522I|MYH11_ENST00000396324.3_Silent_p.I529I|MYH11_ENST00000452625.2_Silent_p.I529I|MYH11_ENST00000300036.5_Silent_p.I522I	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	522	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCGGTCGCTCGATGAGCTCGA	0.627000			T	CBFB	AML								12	35					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99118704	99118704	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:99118704G>A	ENST00000397517.2	-	6	785	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	STK24_ENST00000376547.3_Missense_Mutation_p.P249S|STK24_ENST00000539966.1_Missense_Mutation_p.P218S	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	249	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCAACGTCGGTGGGTTGTTC	0.488000													11	17					0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	68020265	68020265	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:68020265G>A	ENST00000178640.5	+	17	1683	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	MAP2K5_ENST00000340972.4_Silent_p.G162G|MAP2K5_ENST00000395476.2_Intron|MAP2K5_ENST00000354498.5_Silent_p.G316G	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	352	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTGCTCTTGGGAGGTTTCCAT	0.403000													30	83					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38951992	38951992	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:38951992G>A	ENST00000359357.3	+	85	12565	c.12311G>A	c.(12310-12312)tGg>tAg	p.W4104*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.W4068*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTGTATCATGGAATACGGTT	0.378000													5	21					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94377042	94377042	+	Missense_Mutation	SNP	C	C	T	rs145785994		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:94377042C>T	ENST00000282020.4	+	11	2033	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	GRID2_ENST00000510992.1_Missense_Mutation_p.P497L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	592					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGCTTAATCCCCCACGATTA	0.453000													10	35					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412630	126412630	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:126412630G>A	ENST00000394329.3	+	17	14666	c.14653G>A	c.(14653-14655)Gga>Aga	p.G4885R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3126R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4885					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						AGATAATTATGGAGCCAGACT	0.507000													6	31					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29885168	29885168	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:29885168G>A	ENST00000310624.6	+	4	1572	c.1539G>A	c.(1537-1539)gaG>gaA	p.E513E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	513	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CATCCCCAGAGAAGGAAGCCA	0.562000													11	26					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97246961	97246961	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:97246961C>T	ENST00000229955.3	-	2	992	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GPR63_ENST00000417980.1_Missense_Mutation_p.G216E	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	216						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTCGGGGTTTCCTACGGCTAA	0.463000													16	32					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060811	111060811	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:111060811C>T	ENST00000369771.2	-	1	986	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	200			R -> H (in a colorectal cancer sample; somatic mutation).			voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.R200H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CCAGAACTGACGGTGGATGTC	0.547000													18	28					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1388614	1388614	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:1388614C>T	ENST00000324385.5	+	2	327	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	BAIAP3_ENST00000568887.1_Missense_Mutation_p.R22C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R22C|BAIAP3_ENST00000421665.2_Missense_Mutation_p.R22C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R22C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R22C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R22C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	57					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCGTCCTTCCGCCGCAGGAC	0.701000													3	6					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													4	33					0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41854346	41854346	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:41854346A>G	ENST00000221930.5	-	2	1236	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L		NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	124					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	CTCTGCTTGAACTTGTCATAG	0.522000													21	62					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220334030	220334030	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:220334030C>T	ENST00000312358.7	+	13	3776	c.3644C>T	c.(3643-3645)cCc>cTc	p.P1215L	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1215	Ig-like 6.				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)		ACCGGCCTGCCCTACCCCACC	0.642000													13	15					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22248857	22248857	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:22248857G>A	ENST00000324559.8	+	7	690	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	125						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCGGAAGATGGAAGAAC	0.348000													18	50					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239944	3239944	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3239944G>A	ENST00000217939.6	-	5	3936	c.3782C>T	c.(3781-3783)cCa>cTa	p.P1261L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1261						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTATTTTCTGGAGAAGGGCT	0.448000													30	25					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66075955	66075955	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:66075955G>A	ENST00000349533.6	+	14	2156	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	LEPR_ENST00000344610.8_Silent_p.E657E|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Silent_p.E657E|LEPR_ENST00000371059.3_Silent_p.E657E|LEPR_ENST00000371060.3_Silent_p.E657E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	657	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGAAAAAGGAGAAAAATGTCA	0.279000													3	23					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841682	94841682	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:94841682C>A	ENST00000357742.4	+	1	188	c.188C>A	c.(187-189)cCa>cAa	p.P63Q	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.P63Q|MCTP2_ENST00000451018.3_Missense_Mutation_p.P63Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	63					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GCCTTGGCCCCAGAGGGCCGG	0.612000													5	66					0.014758	0.0148505	1	1	0
ZNF354A	6940	broad.mit.edu	37	5	178139233	178139233	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:178139233G>A	ENST00000335815.2	-	5	1843	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	549					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)		ACATTTAAAGGGTTTTTCTCC	0.373000													12	43					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758051	141758051	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:141758051C>T	ENST00000475668.2	+	31	3796	c.3742C>T	c.(3742-3744)Ctg>Ttg	p.L1248L	MGAM_ENST00000549489.2_Silent_p.L1248L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1248	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L1248L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGGTTCCAGCTGTGTCGCTA	0.478000													112	134					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952953	119952953	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:119952953C>T	ENST00000307142.4	+	4	3219	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L	SYNPO2_ENST00000429713.2_Missense_Mutation_p.P1008L|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P1008L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1008						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCTCTTCCTCCCCGGCCAGTG	0.542000													7	32					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55452981	55452981	+	Silent	SNP	G	G	A	rs145372368	byFrequency	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:55452981G>A	ENST00000446217.1	-	4	585	c.183C>T	c.(181-183)ccC>ccT	p.P61P	NLRP7_ENST00000448121.2_Silent_p.P33P|NLRP7_ENST00000328092.5_Silent_p.P33P|NLRP7_ENST00000588756.1_Silent_p.P33P|NLRP7_ENST00000340844.2_Silent_p.P33P|NLRP7_ENST00000592784.1_Silent_p.P33P|NLRP7_ENST00000590030.1_Silent_p.P33P			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	33	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CGTCTTCGAGGGGAAAAGCCC	0.493000													10	27					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034423	79034423	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:79034423G>A	ENST00000446378.2	+	2	9866	c.9835G>A	c.(9835-9837)Gaa>Aaa	p.E3279K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3279						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)		GATAGCTGCAGAAGGGGAAAT	0.448000													9	57					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974752	20974752	+	Missense_Mutation	SNP	A	A	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:20974752A>C	ENST00000261383.3	-	53	10453	c.10454T>G	c.(10453-10455)gTg>gGg	p.V3485G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3485					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)		GACCGCTGGCACCATTTTGTC	0.527000													8	27					0	0	1	0	0
CMTR1	23070	broad.mit.edu	37	6	37414177	37414177	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:37414177C>T	ENST00000373451.4	+	4	560	c.396C>T	c.(394-396)ctC>ctT	p.L132L		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		132	G-patch.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GTCTGACACTCCGGGGCTTTG	0.527000													29	124					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:185975697G>A	ENST00000265022.3	-	17	1995	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_ENST00000382164.4_Missense_Mutation_p.R447C|DGKG_ENST00000344484.4_Missense_Mutation_p.R461C|DGKG_ENST00000544847.1_Missense_Mutation_p.R427C	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	486	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463000													15	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077304	9077304	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:9077304G>A	ENST00000397910.4	-	3	10345	c.10142C>T	c.(10141-10143)tCa>tTa	p.S3381L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3382	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						ATCTGTCAATGAGCTCACAGA	0.473000													39	118					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20010380	20010380	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:20010380C>T	ENST00000400230.2	-	15	1146	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	TPTE2_ENST00000255310.6_Missense_Mutation_p.E291K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E257K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E291K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E257K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E328K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E328K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E368K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	368	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GAAGGAGTTTCTACTCCCTGA	0.363000													8	15					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207606	81207606	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:81207606G>A	ENST00000312465.7	+	3	813	c.587G>A	c.(586-588)gGa>gAa	p.G196E	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	196					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AATAAAAGAGGAAAAGCCAAA	0.468000													16	66					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162402318	162402318	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:162402318C>T	ENST00000306100.5	-	13	1898	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	FSTL5_ENST00000536695.1_Missense_Mutation_p.E487K|FSTL5_ENST00000379164.4_Missense_Mutation_p.E487K|FSTL5_ENST00000427802.2_Missense_Mutation_p.E478K	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	488						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GGACAGACTTCATCCTGTAAT	0.353000													16	50					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732733	152732733	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152732733C>T	ENST00000368773.1	+	2	727	c.669C>T	c.(667-669)tcC>tcT	p.S223S	KPRP_ENST00000606109.1_Silent_p.S223S	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	223						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTATCGGTCCCGGACTTCAT	0.582000													20	47					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40660900	40660900	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:40660900G>A	ENST00000267889.3	+	8	2674	c.2587G>A	c.(2587-2589)Gac>Aac	p.D863N		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	863					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CGGCCACTCGGACTTCCCCTG	0.662000													8	37					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	80030909	80030909	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:80030909C>T	ENST00000360280.3	+	72	9772	c.9512C>T	c.(9511-9513)tCt>tTt	p.S3171F	VPS13A_ENST00000376646.3_Missense_Mutation_p.S107F|VPS13A_ENST00000484581.2_Missense_Mutation_p.S107F|VPS13A_ENST00000376636.3_Missense_Mutation_p.S3132F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3171					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAACCTTCTCCGAGCCTC	0.418000													14	34					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229024	8229024	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:8229024G>A	ENST00000539824.1	+	12	1749	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.D535N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	535							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTTCAGCGACGAGGAGGA	0.682000													11	23					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31743954	31743954	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:31743954G>A	ENST00000375686.3	-	3	537	c.300C>T	c.(298-300)ttC>ttT	p.F100F	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Silent_p.F100F|VWA7_ENST00000447450.1_Silent_p.F100F	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	100						extracellular region											AGGCTGCTCGGAACCGCCGAG	0.602000													17	60					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61238933	61238933	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:61238933C>T	ENST00000316752.6	-	2	354	c.93G>A	c.(91-93)gtG>gtA	p.V31V	PUS10_ENST00000407787.1_Silent_p.V31V|PUS10_ENST00000398658.2_Silent_p.V31V	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	31					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CATGAAAATCCACACCACAGA	0.348000													5	10					0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31840318	31840318	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:31840318C>T	ENST00000373713.2	-	3	331	c.270G>A	c.(268-270)ggG>ggA	p.G90G	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	90					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		GAACAAGTTTCCCTCCATCCA	0.532000													18	68					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181759	140181759	+	Missense_Mutation	SNP	G	G	A	rs148196865		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140181759G>A	ENST00000522353.2	+	1	977	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G326E|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1												p.G326E(1)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGATAAAGGAAATCCCCCA	0.378000													11	58					0	0	1	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28557087	28557087	+	Silent	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:28557087T>C	ENST00000383768.2	+	8	947	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ZCWPW2_ENST00000421010.1_Silent_p.D253D			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	253							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						TTTATTCTGATGATGCCTTAT	0.303000													3	14					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019166	216019166	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216019166C>T	ENST00000366943.2	-	45	9441	c.9055_splice	c.e45+1	p.E3019_splice	USH2A_ENST00000307340.3_Splice_Site_p.E3019_splice			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3019					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGACTCACCCCCATCGCAA	0.438000										HNSCC(13;0.011)			5	17					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104922684	104922684	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:104922684C>T	ENST00000262231.10	+	3	1432	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	618					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCTGAACCTCAGATTAAG	0.463000										HNSCC(12;0.0054)			30	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645491	45645491	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:45645491C>T	ENST00000303230.4	-	2	702	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	215						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						TTAAATAATTCATCTTGATCA	0.368000													7	17					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540093	169540093	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:169540093C>T	ENST00000340806.6	+	1	384	c.384C>T	c.(382-384)acC>acT	p.T128T		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	128										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCTACCAGACCGACCTGAAGG	0.567000													14	47					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40874903	40874903	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:40874903G>A	ENST00000428826.2	-	6	518	c.397C>T	c.(397-399)Ccc>Tcc	p.P133S	EZH1_ENST00000592743.1_Missense_Mutation_p.P133S|EZH1_ENST00000590078.1_Missense_Mutation_p.P63S|EZH1_ENST00000585893.1_Missense_Mutation_p.P93S|EZH1_ENST00000435174.1_Intron|EZH1_ENST00000415827.2_Missense_Mutation_p.P124S			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	133					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCCATGTAGGGAATATTGCAC	0.398000													16	66					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610820	50610820	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:50610820G>A	ENST00000371824.1	+	2	458	c.201G>A	c.(199-201)ggG>ggA	p.G67G	ELAVL4_ENST00000371821.1_Silent_p.G72G|ELAVL4_ENST00000448907.2_Silent_p.G70G|ELAVL4_ENST00000357083.4_Silent_p.G84G|ELAVL4_ENST00000371823.4_Silent_p.G67G|ELAVL4_ENST00000371819.1_Silent_p.G72G|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371827.1_Silent_p.G67G			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	67	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GTCTCTTCGGGAGCATTGGTG	0.428000													17	36					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228466596	228466596	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:228466596G>A	ENST00000570156.2	+	31	8427	c.8353G>A	c.(8353-8355)Gag>Aag	p.E2785K	OBSCN_ENST00000359599.6_Missense_Mutation_p.E1203K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E2356K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E2356K|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1786	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCAGAGGACGAGGACACCTA	0.587000													12	30					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936713	4936713	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:4936713G>A	ENST00000322013.3	-	1	209	c.181C>T	c.(181-183)Cat>Tat	p.H61Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGGTTCATGAAGTGAGCGC	0.488000													13	31					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571377	86571377	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:86571377G>A	ENST00000376344.3	-	1	255	c.39C>T	c.(37-39)ttC>ttT	p.F13F	C9orf64_ENST00000314700.1_Intron	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	13										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTCTGCAATGAATTTAGAGG	0.612000													9	18					0	0	1	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197675	142197675	+	RNA	SNP	T	T	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr7:142197675T>G	ENST00000471935.1	-	0	302																											AAATCGATCCTTAGGCAACTG	0.507000													10	51					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33095526	33095526	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:33095526G>A	ENST00000267068.3	-	5	1698	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P83S|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.P512S|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.P68S|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P68S	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	512								p.P512>?(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AATTCTTCAGGATCAAATTTC	0.333000													17	31					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12376356	12376356	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:12376356C>T	ENST00000256186.2	+	8	2146	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	619					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ATTAGAAGATCATCAAAGCAG	0.428000													3	8					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961444	52961444	+	Splice_Site	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:52961444G>T	ENST00000549343.1	-	9	1469	c.1432_splice	c.e9+1	p.I477_splice	KRT74_ENST00000305620.2_Splice_Site_p.I463_splice			Q7RTS7	K2C74_HUMAN	keratin 74	463	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		AATACTCACAGATGCTCACAG	0.463000													5	14					1	1	1	1	0
ZC3H12C	85463	broad.mit.edu	37	11	110035894	110035894	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:110035894C>T	ENST00000453089.2	+	5	2872	c.1991C>T	c.(1990-1992)cCa>cTa	p.P664L	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P695L|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P696L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	695							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACGAAGAACCAAAGTTCCAT	0.582000													61	135					0	0	1	0	0
FAM8A1	51439	broad.mit.edu	37	6	17601203	17601203	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:17601203G>A	ENST00000259963.3	+	1	618	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	188						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CCTGACCCGCGGACAGCTGCC	0.746000													3	9					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109087819	109087819	+	Silent	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:109087819A>G	ENST00000309863.6	+	6	2748	c.2034A>G	c.(2032-2034)gaA>gaG	p.E678E		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	678					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTCTCTCTGAAGACAAAGAAG	0.323000													23	66					0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121176173	121176173	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:121176173G>A	ENST00000242592.4	+	6	866	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ACADS_ENST00000411593.2_Missense_Mutation_p.A235T	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	239						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTCATCCACGGCCAACCTCAT	0.612000													15	38					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887686	12887686	+	Silent	SNP	T	T	C	rs59802947	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:12887686T>C	ENST00000535591.1	-	3	366	c.171A>G	c.(169-171)agA>agG	p.R57R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	57								p.R57R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGTTTCCATCTCCTGTGGG	0.468000													6	119					0	0	1	0	0
OR4C12	283093	broad.mit.edu	37	11	50003441	50003441	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:50003441C>T	ENST00000335238.4	-	1	630	c.597G>A	c.(595-597)gtG>gtA	p.V199V		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ACCCACTGTTCACAGCAACAA	0.413000													13	47					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163117238	163117238	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:163117238G>A	ENST00000313961.5	-	5	717	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RGS5_ENST00000527988.1_Missense_Mutation_p.S39F|RGS5_ENST00000367903.3_Missense_Mutation_p.S167F|RGS5_ENST00000530507.1_Missense_Mutation_p.S151F	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	147	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GCTGCTCAGGGAAGGTTCCAC	0.463000													10	32					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41621205	41621205	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:41621205G>A	ENST00000313860.7	+	8	737	c.682_splice	c.e8-1	p.G228_splice	LIMCH1_ENST00000512820.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000512632.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000511496.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000513024.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000509638.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000381753.4_Splice_Site_p.G74_splice|LIMCH1_ENST00000512946.1_Splice_Site_p.G228_splice|LIMCH1_ENST00000503057.1_Splice_Site_p.G69_splice|LIMCH1_ENST00000514096.1_Splice_Site_p.G81_splice|LIMCH1_ENST00000509277.1_Splice_Site_p.G74_splice|LIMCH1_ENST00000396595.3_Splice_Site_p.G74_splice|LIMCH1_ENST00000509454.1_Splice_Site_p.G76_splice|LIMCH1_ENST00000508501.1_Splice_Site_p.G228_splice	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	228					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCTTCCCTAGGGAGAGGAAGC	0.507000													65	159					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507520	74507520	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:74507520C>T	ENST00000354431.4	-	7	1286	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	LRRIQ3_ENST00000395089.1_Silent_p.K365K	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	365										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTGCATTATTCTTCAATGAAC	0.338000													10	33					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137536	97137536	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:97137536G>A	ENST00000524981.3	+	21	2758	c.2758G>A	c.(2758-2760)Gaa>Aaa	p.E920K				Q6ZTY8	CL063_HUMAN		894										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GGAAGGAAATGAATTTATTTC	0.343000													7	11					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745583	140745583	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:140745583C>T	ENST00000518069.1	+	1	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGAGATCCTGTACCCCG	0.622000													38	105					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526456	52526456	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52526456G>A	ENST00000345716.4	+	21	4607	c.4473G>A	c.(4471-4473)gaG>gaA	p.E1491E	NISCH_ENST00000479054.1_Silent_p.E1491E	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1491					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)		GCCAGTGGGAGGCCCTGTGTG	0.662000													15	42					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28539994	28539994	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:28539994C>T	ENST00000452236.2	-	4	4289	c.3672G>A	c.(3670-3672)caG>caA	p.Q1224Q		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1224					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						acaacttatcctgtagagtta	0.323000													4	16					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519497	53519497	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:53519497G>A	ENST00000370905.3	-	2	714	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	KLHL31_ENST00000407079.1_Nonsense_Mutation_p.Q192*	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	192	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					ATAAATTTCTGGGCTGCTGCT	0.343000													9	24					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228115911	228115911	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:228115911G>A	ENST00000396578.3	+	10	764	c.602G>A	c.(601-603)gGa>gAa	p.G201E	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_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)	201	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)		GGTCCTCCGGGATTCTTTGTG	0.383000													16	36					0	0	1	0	0
TCAIM	285343	broad.mit.edu	37	3	44437968	44437968	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:44437968G>A	ENST00000342649.4	+	7	1199	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	TCAIM_ENST00000417237.1_Missense_Mutation_p.E258K	NM_173826.3	NP_776187.2			T cell activation inhibitor, mitochondrial																		GCAGAATTTGGAAACACTTAA	0.408000													7	11					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8176871	8176871	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:8176871G>A	ENST00000600128.1	-	31	4365	c.3951C>T	c.(3949-3951)ttC>ttT	p.F1317F	FBN3_ENST00000601739.1_Silent_p.F1317F|FBN3_ENST00000270509.2_Silent_p.F1317F			Q75N90	FBN3_HUMAN	fibrillin 3	1317	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGACATTCGAAGCCATCCC	0.637000													14	42					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	844144	844144	+	Silent	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:844144A>G	ENST00000317063.6	+	17	2520	c.2520A>G	c.(2518-2520)cgA>cgG	p.R840R	CHTF18_ENST00000455171.2_Silent_p.R659R|CHTF18_ENST00000262315.9_Silent_p.R631R			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	631					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCACAGCGATTCTACCGTG	0.687000													13	36					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111274	64111274	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:64111274C>T	ENST00000356786.5	+	13	1387	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	448					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGGCCCCCTCGCTGCAAGAT	0.642000													3	5					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101056353	101056353	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:101056353G>A	ENST00000394095.2	-	17	2533	c.2480_splice	c.e17+1	p.S827_splice	SENP7_ENST00000358203.3_Splice_Site_p.S663_splice|SENP7_ENST00000394094.2_Splice_Site_p.S762_splice|SENP7_ENST00000348610.3_Splice_Site_p.S794_splice|SENP7_ENST00000394091.1_Splice_Site_p.S663_splice|SENP7_ENST00000314261.7_Splice_Site_p.S761_splice	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	827	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.S761L(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATTAACTTACGAAAGATTTGG	0.299000													3	13					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501836	28501836	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:28501836C>T	ENST00000412168.2	+	5	647	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	186					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TTGAAAAGTTCCTGGTGGGGC	0.507000													11	49					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21120160	21120160	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:21120160G>A	ENST00000377122.4	-	16	2032	c.1636C>T	c.(1636-1638)Ctt>Ttt	p.L546F	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	546					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGGCTCGAAGGATATCTGGG	0.373000													21	19					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													3	45					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:105367188C>T	ENST00000297581.2	+	3	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000													25	31					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997512	146997512	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:146997512G>A	ENST00000265272.5	-	19	2775	c.2308C>T	c.(2308-2310)Ctt>Ttt	p.L770F	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.L728F|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.L749F	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	770						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCCTGAAGAATCTGACAG	0.468000													11	26					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947433	145947433	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:145947433G>A	ENST00000292562.7	-	5	1887	c.1612C>T	c.(1612-1614)Ccc>Tcc	p.P538S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTCCAGTGGGAATCTGTCCA	0.483000													48	80					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50101038	50101038	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50101038C>T	ENST00000418929.2	+	4	3458	c.3446C>T	c.(3445-3447)cCc>cTc	p.P1149L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	328							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AACCCAGGACCCGATGGCCCC	0.741000													3	12					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3229574	3229574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:3229574G>A	ENST00000217939.6	-	7	6824	c.6670C>T	c.(6670-6672)Cga>Tga	p.R2224*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2224	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCTTATTTCGAGCTACGCAC	0.468000													14	17					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171248010	171248010	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:171248010G>A	ENST00000354841.4	+	4	758	c.627_splice	c.e4+1	p.K209_splice	FMO1_ENST00000402921.2_Splice_Site_p.K146_splice|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Splice_Site_p.K209_splice			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	209					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGGCGGAAAAGGTACATTCCT	0.413000													5	14					0	0	1	0	0
BNIPL	149428	broad.mit.edu	37	1	151015542	151015542	+	Nonsense_Mutation	SNP	C	C	T	rs141131792		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:151015542C>T	ENST00000295294.7	+	5	907	c.298C>T	c.(298-300)Cga>Tga	p.R100*	BNIPL_ENST00000368931.3_Nonsense_Mutation_p.R182*	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	182					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	p.R182*(1)|p.R100*(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|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)			GAGGGTGTTCCGAATGGGACC	0.542000													7	26					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679467	43679467	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:43679467G>A	ENST00000404580.1	-	4	952	c.864C>T	c.(862-864)atC>atT	p.I288I	PSG5_ENST00000599812.1_Silent_p.I381I|PSG5_ENST00000407356.1_Silent_p.I288I|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Silent_p.I288I|PSG5_ENST00000366175.3_Silent_p.I288I			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	288	Ig-like C2-type 2.			I -> M (in Ref. 3; AAA36514).	female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TAATTTGGGGGATAGAGAGCT	0.448000													41	136					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091333	36091333	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:36091333G>A	ENST00000378660.1	+	4	456	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CHDC2_ENST00000313548.4_Missense_Mutation_p.E90K					calponin homology domain containing 2																		TCTGGAAAAGGAAAAATATGA	0.378000													11	11					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17252734	17252734	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:17252734C>T	ENST00000261381.6	-	6	1406	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	441					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTCGGTATCGGGAGAGAAA	0.488000													8	34					0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42314869	42314869	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:42314869G>A	ENST00000357396.3	+	6	868		c.e6-1		CEACAM3_ENST00000344550.4_Splice_Site|CEACAM3_ENST00000221999.4_Splice_Site	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3							integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCTGTCCACAGATGTCCCCTC	0.577000													7	36					0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108296931	108296931	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:108296931C>T	ENST00000520734.1	-	6	869	c.584G>A	c.(583-585)gGa>gAa	p.G195E	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.G194E			Q15389	ANGP1_HUMAN	angiopoietin 1	395					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTTTCATTTCCTATGTGGAA	0.378000													8	67					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100154	50100154	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:50100154C>T	ENST00000418929.2	+	4	2574	c.2562C>T	c.(2560-2562)ctC>ctT	p.L854L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	33	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGGCCCACCTCCGCAGCCATG	0.741000													3	7					0	0	1	0	0
C16orf13	84326	broad.mit.edu	37	16	684604	684604	+	Missense_Mutation	SNP	T	T	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:684604T>G	ENST00000301686.8	-	6	619	c.608A>C	c.(607-609)aAa>aCa	p.K203T	C16orf13_ENST00000397665.2_Missense_Mutation_p.E160D|C16orf13_ENST00000397664.4_Missense_Mutation_p.K126T|C16orf13_ENST00000338401.4_Missense_Mutation_p.K106T|C16orf13_ENST00000397666.2_Missense_Mutation_p.E180D	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	203										large_intestine(1)	1		Hepatocellular(780;0.00335)				GGCTTAGTTTTTCCGGAAGAT	0.617000													34	127					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70145866	70145866	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:70145866G>A	ENST00000388768.2	-	8	1101	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	RUFY2_ENST00000472394.2_Intron|RUFY2_ENST00000454950.2_Missense_Mutation_p.H166Y|RUFY2_ENST00000399200.2_Missense_Mutation_p.H190Y|RUFY2_ENST00000602465.1_Missense_Mutation_p.H224Y	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	273						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ACTCTTGAATGGAGGCTGCTG	0.338000													5	10					0	0	1	0	0
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:52847504C>T	ENST00000541324.1	-	4	401		c.e4-1		GSTA4_ENST00000370960.1_Splice_Site|GSTA4_ENST00000370959.1_Splice_Site|GSTA4_ENST00000486559.1_Splice_Site			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4						glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408000													7	36					0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256104	52256104	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:52256104G>A	ENST00000597542.1	-	9	3257	c.2300C>T	c.(2299-2301)tCc>tTc	p.S767F	TLR9_ENST00000494383.1_Silent_p.L896L|TLR9_ENST00000360658.2_Missense_Mutation_p.S743F			Q9NR96	TLR9_HUMAN	toll-like receptor 9	743					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CCCAAACCAGGAGTGGTCCAC	0.602000													18	60					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31620565	31620565	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:31620565G>A	ENST00000379416.3	-	6	512	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	155					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTGGAGGATGGGTCTGTAGCC	0.547000													36	74					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898852	37898852	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:37898852C>T	ENST00000309156.4	+	3	446	c.189C>T	c.(187-189)tcC>tcT	p.S63S	GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Silent_p.S63S|GRB7_ENST00000394211.3_Silent_p.S63S|GRB7_ENST00000394209.2_Silent_p.S63S|GRB7_ENST00000309185.3_Silent_p.S63S|GRB7_ENST00000445327.2_Silent_p.S86S	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	63					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTGCCACCTCCCTCCCCTCTA	0.627000													19	105					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328303	57328303	+	Missense_Mutation	SNP	T	T	C			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:57328303T>C	ENST00000326441.9	-	10	1870	c.1507A>G	c.(1507-1509)Aaa>Gaa	p.K503E	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K379E|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K503E|PEG3_ENST00000593695.1_Missense_Mutation_p.K377E	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	503					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAAAACGTTTCCCTCCAACC	0.448000													20	68					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183372	35183372	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr21:35183372C>T	ENST00000381318.3	+	21	2701	c.2413C>T	c.(2413-2415)Cca>Tca	p.P805S	ITSN1_ENST00000399355.2_Missense_Mutation_p.P805S|ITSN1_ENST00000399326.3_Missense_Mutation_p.P800S|ITSN1_ENST00000399349.1_Missense_Mutation_p.P800S|ITSN1_ENST00000399367.3_Missense_Mutation_p.P800S|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Missense_Mutation_p.P800S|ITSN1_ENST00000399352.1_Missense_Mutation_p.P800S|ITSN1_ENST00000399353.1_Missense_Mutation_p.P763S|ITSN1_ENST00000381291.4_Missense_Mutation_p.P805S|ITSN1_ENST00000379960.5_Missense_Mutation_p.P800S|ITSN1_ENST00000381285.4_Missense_Mutation_p.P805S|ITSN1_ENST00000437442.2_Missense_Mutation_p.P800S	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	805	SH3 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGAGAAAATCCCAGAAAATGA	0.537000													23	56					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149694	63149694	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:63149694G>A	ENST00000279178.3	+	6	1267	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	340					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						TTCTCTGTGTGAAATGCTCCA	0.398000													20	57					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330502	137330502	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:137330502G>A	ENST00000367748.1	-	3	784	c.198C>T	c.(196-198)tcC>tcT	p.S66S	IL20RA_ENST00000541547.1_Silent_p.S128S|IL20RA_ENST00000367746.3_Silent_p.S177S|IL20RA_ENST00000316649.5_Silent_p.S177S|IL20RA_ENST00000468393.1_5'UTR			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	177	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		ACTTCAGATTGGAGTATATTT	0.408000													11	25					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118765155	118765155	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:118765155C>T	ENST00000292174.4	+	2	1078	c.902C>T	c.(901-903)cCc>cTc	p.P301L	BCL9L_ENST00000334801.3_3'UTR	NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	301					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GGCTCTCTCCCCGTGGCCATC	0.597000													12	57					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488954	61488954	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:61488954C>T	ENST00000335351.3	-	4	1123	c.1031G>A	c.(1030-1032)cGg>cAg	p.R344Q	TCFL5_ENST00000217162.5_Missense_Mutation_p.R296Q	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CATTCTACTCCGATTCCTCTT	0.448000													9	66					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3639374	3639374	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:3639374G>A	ENST00000294008.3	-	12	4905	c.4265C>T	c.(4264-4266)cCa>cTa	p.P1422L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1422	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				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						GTCGTCAATTGGAATTGGGGG	0.632000								Direct reversal of damage					46	100					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130215656	130215656	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:130215656C>T	ENST00000276211.5	+	2	362	c.17C>T	c.(16-18)cCt>cTt	p.P6L	ARHGAP36_ENST00000370922.1_Intron	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCATTCCTTTTCTGAAG	0.527000													19	17					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58495428	58495428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:58495428C>A	ENST00000357552.3	-	5	508	c.283G>T	c.(283-285)Gga>Tga	p.G95*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.G95*|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	95					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGTATTAGTCCTTGTTTTATC	0.308000													3	7					2.56e-06	2.60051e-06	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32211145	32211145	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:32211145C>T	ENST00000400246.1	+	21	1755	c.1613C>T	c.(1612-1614)cCc>cTc	p.P538L	DEPDC5_ENST00000266091.3_Missense_Mutation_p.P538L|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P510L|DEPDC5_ENST00000400248.1_Missense_Mutation_p.P538L|DEPDC5_ENST00000400242.3_Missense_Mutation_p.P538L|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P538L|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P538L|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P538L|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P538L|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P538L			O75140	DEPD5_HUMAN	DEP domain containing 5	538					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATCCCACACCCCCACCTGCAC	0.552000													8	45					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855102	42855102	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:42855102C>T	ENST00000200557.6	+	23	2110	c.1941C>T	c.(1939-1941)agC>agT	p.S647S	ADAM11_ENST00000535346.1_Silent_p.S447S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	647	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CTGACCTGAGCTATGTGGAGG	0.642000													7	29					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473421	19473421	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:19473421C>T	ENST00000507958.1	-	15	3277	c.2287G>A	c.(2287-2289)Gat>Aat	p.D763N	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.D763N|CDH18_ENST00000274170.4_Missense_Mutation_p.D763N			Q13634	CAD18_HUMAN	cadherin 18, type 2	763					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D763N(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAGTGATAATCCTGGTCTGAT	0.458000													12	36					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207346	135207346	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:135207346C>T	ENST00000274513.5	+	5	790	c.618C>T	c.(616-618)atC>atT	p.I206I	SLC25A48_ENST00000433282.2_Silent_p.I152I|SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000420621.1_Silent_p.I206I|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	206					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GTGAGTGGATCACACCTGAGG	0.667000													11	41					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37591724	37591724	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr4:37591724C>T	ENST00000284437.6	+	3	225	c.47C>T	c.(46-48)cCa>cTa	p.P16L	C4orf19_ENST00000381980.4_Missense_Mutation_p.P16L|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	16										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTCTTTGATCCAGTTCAAGTG	0.438000													63	177					0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14341157	14341157	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:14341157C>T	ENST00000571589.1	+	12	2212	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	MKL2_ENST00000318282.5_Silent_p.I680I|MKL2_ENST00000574045.1_Silent_p.I680I|MKL2_ENST00000341243.5_Silent_p.I669I	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	669	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGTAGTTATCAAGCAAGAGG	0.597000													14	41					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22068653	22068653	+	Missense_Mutation	SNP	C	C	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:22068653C>A	ENST00000261200.4	-	5	764	c.765G>T	c.(763-765)atG>atT	p.M255I	ABCC9_ENST00000345162.2_Missense_Mutation_p.M255I|ABCC9_ENST00000261201.4_Missense_Mutation_p.M255I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	255					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTACTGCTCTCATTGCTATTG	0.378000													18	32					2.48551e-13	2.54091e-13	1	1	0
ATP9A	10079	broad.mit.edu	37	20	50241845	50241845	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:50241845C>T	ENST00000338821.5	-	18	2166	c.1902G>A	c.(1900-1902)acG>acA	p.T634T	ATP9A_ENST00000311637.5_Silent_p.T498T|ATP9A_ENST00000402822.1_Silent_p.T513T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	634					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCGATCACCGTGGCCACTT	0.632000													8	44					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102231659	102231659	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr13:102231659G>A	ENST00000376180.3	+	5	827	c.608G>A	c.(607-609)gGa>gAa	p.G203E	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G110E|ITGBL1_ENST00000545560.2_Missense_Mutation_p.G62E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	203	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTTACTGTGGAAACTGCTAC	0.428000													17	62					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152187986	152187986	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:152187986G>A	ENST00000368801.2	-	3	6194	c.6119C>T	c.(6118-6120)tCc>tTc	p.S2040F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2040					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGTGGCTGGAAGACTGACC	0.587000													30	521					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10398410	10398410	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10398410C>T	ENST00000226207.5	-	37	5398	c.5304G>A	c.(5302-5304)atG>atA	p.M1768I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1768						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCAGCCATCATGGCAGCCT	0.488000													28	95					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29221041	29221041	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:29221041G>A	ENST00000379558.4	+	3	412	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	FAM179A_ENST00000403861.2_Missense_Mutation_p.G21R	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	21							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTGTACTGCGGGAGCATCCC	0.622000													5	10					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160555050	160555050	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:160555050C>T	ENST00000366963.4	+	4	879	c.732C>T	c.(730-732)ttC>ttT	p.F244F	SLC22A1_ENST00000457470.2_Silent_p.F244F|SLC22A1_ENST00000324965.4_Silent_p.F244F	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	244						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		AGATGGCCTTCACGGTGGGGC	0.612000													13	29					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514580	123514580	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:123514580C>T	ENST00000422452.2	-	32	8068	c.8005G>A	c.(8005-8007)Gaa>Aaa	p.E2669K	TENM1_ENST00000371130.3_Missense_Mutation_p.E2662K|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTTCTTTGTTCCTTAGTCCAG	0.547000													31	13					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31286950	31286950	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:31286950C>T	ENST00000544665.3	+	9	1010	c.939C>T	c.(937-939)ttC>ttT	p.F313F	ITGAM_ENST00000287497.8_Silent_p.F313F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	313	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						ATCACGTGTTCCAGGTGAATA	0.527000													9	19					0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80667059	80667059	+	Missense_Mutation	SNP	C	C	G	rs148821008		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:80667059C>G	ENST00000299564.8	-	3	846	c.691G>C	c.(691-693)Gtc>Ctc	p.V231L	CDYL2_ENST00000563890.1_Missense_Mutation_p.V232L|CDYL2_ENST00000562812.1_Missense_Mutation_p.V232L|CDYL2_ENST00000566173.1_Missense_Mutation_p.V232L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	231						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTGTCAAAGACGTAGTCCTTC	0.498000													20	57					0	0	1	0	0
KRT33B	3884	broad.mit.edu	37	17	39521722	39521722	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:39521722G>A	ENST00000251646.3	-	4	721	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	224	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCTCGTTCAGGACCTGGTTCA	0.592000													9	20					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417554	28417554	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:28417554G>A	ENST00000394835.3	+	20	3991	c.3799G>A	c.(3799-3801)Gat>Aat	p.D1267N	EFCAB5_ENST00000394832.2_Intron|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000320856.5_Missense_Mutation_p.D1143N	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1267							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						GGGAGTCCTCGATTTTAACAT	0.428000													19	41					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701922	56701922	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:56701922C>T	ENST00000586855.2	-	5	1075	c.762G>A	c.(760-762)ggG>ggA	p.G254G	ZSCAN5B_ENST00000358992.3_Silent_p.G254G			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	254					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGGGTTCCTTCCCCTCCTTTG	0.488000													15	31					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609499	28609499	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr18:28609499G>A	ENST00000434452.1	-	4	604	c.450C>T	c.(448-450)ggC>ggT	p.G150G	DSC3_ENST00000360428.4_Silent_p.G150G	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	150	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGGGAAAGGGCCCAAGGAAT	0.418000													12	14					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040732	65040732	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:65040732G>A	ENST00000300069.4	-	6	720	c.453C>T	c.(451-453)tcC>tcT	p.S151S	RBPMS2_ENST00000560606.1_Silent_p.S40S	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	151							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						AGGCCTCTGGGGATGCAGGGA	0.612000													12	57					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200880600	200880600	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:200880600G>A	ENST00000367342.4	+	9	1434	c.1234G>A	c.(1234-1236)Ggt>Agt	p.G412S	C1orf106_ENST00000413687.2_Missense_Mutation_p.G327S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	412										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTTCCGGGCGGGTCCTGAGGG	0.642000													64	197					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981729	7981729	+	Missense_Mutation	SNP	G	G	A	rs77351963		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:7981729G>A	ENST00000328600.2	-	2	1591	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	477	NACHT.						ATP binding	p.S477C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CACCAGGTAAGACATGGCATG	0.517000													22	47					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18906877	18906877	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:18906877G>A	ENST00000388995.6	-	2	701	c.478C>T	c.(478-480)Cac>Tac	p.H160Y	FAM83G_ENST00000585154.2_Missense_Mutation_p.H160Y|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.H160Y|SLC5A10_ENST00000395647.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	160										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TCTTTGATGTGGGCCTGCCCG	0.672000													9	28					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158300411	158300411	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:158300411C>T	ENST00000264192.3	-	1	243	c.122G>A	c.(121-123)aGg>aAg	p.R41K	CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	41					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CATTTGAATCCTTCTATTATC	0.502000													19	51					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974845	20974845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr16:20974845C>T	ENST00000261383.3	-	53	10360	c.10361G>A	c.(10360-10362)tGg>tAg	p.W3454*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3454					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)		CTCATGGGGCCAGGCCGAGTC	0.532000													9	35					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000													5	243					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444719	49444719	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:49444719G>A	ENST00000301067.7	-	10	2746	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGGGGACAACGGCAGCTCCTC	0.577000													15	56					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25446399	25446399	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr15:25446399C>T	ENST00000424208.1	+	0	1974				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GCCCTAGTTTCCTGCACTGAG	0.577000													23	49					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216380710	216380710	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:216380710C>T	ENST00000366943.2	-	16	3607	c.3221G>A	c.(3220-3222)tGg>tAg	p.W1074*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W1074*|USH2A_ENST00000366942.3_Nonsense_Mutation_p.W1074*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1074	Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTGGACTCCAGGAGAGATT	0.433000										HNSCC(13;0.011)			16	31					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158262103	158262103	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr1:158262103C>T	ENST00000368170.3	+	3	837	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	186					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCACTTGCCCCCGATTTCTCT	0.453000													57	213					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578288	124578288	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:124578288G>A	ENST00000296181.4	-	3	458	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	54	PSI.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTGGGCTTCCGAAGTCCTAGG	0.552000													4	27					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31600505	31600505	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:31600505G>A	ENST00000376033.2	+	16	4289	c.4055G>A	c.(4054-4056)gGa>gAa	p.G1352E	PRRC2A_ENST00000376007.4_Missense_Mutation_p.G1352E	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1352	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGGCTGTGGGAACTCCTGGG	0.587000													18	60					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053691	67053691	+	Silent	SNP	G	G	A	rs151133801		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr3:67053691G>A	ENST00000295568.4	+	3	353	c.222G>A	c.(220-222)tcG>tcA	p.S74S	KBTBD8_ENST00000417314.2_Silent_p.S100S|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	100	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGCTGAATCGATGGATTTAG	0.403000													30	61					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10419639	10419639	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:10419639G>A	ENST00000226207.5	-	4	319	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	75	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGAAGACTTGGTCATCTTTCA	0.463000													34	89					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14369482	14369482	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:14369482G>A	ENST00000344204.4	+	18	3090		c.e18-1		TRIO_ENST00000509967.2_Splice_Site|TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTGCTCACAGGTCTGCAGCG	0.577000													15	45					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68950487	68950487	+	Missense_Mutation	SNP	C	C	T	rs138740482		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr8:68950487C>T	ENST00000288368.4	+	7	1076	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	267	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.L267F(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGTTTTTTCTTTTCGATAA	0.408000													22	27					0	0	1	0	0
TMEM143	55260	broad.mit.edu	37	19	48845901	48845901	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:48845901G>A	ENST00000293261.3	-	6	1177	c.861C>T	c.(859-861)gtC>gtT	p.V287V	TMEM143_ENST00000377431.2_Silent_p.V187V|TMEM143_ENST00000541566.1_Silent_p.V177V|TMEM143_ENST00000436660.2_Silent_p.V222V|TMEM143_ENST00000435956.3_Silent_p.V252V	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	287						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCACGCCGGAGACTACCAGCA	0.652000													15	32					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941607	22941607	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:22941607G>A	ENST00000397104.3	-	5	830	c.831C>T	c.(829-831)ccC>ccT	p.P277P	ZNF99_ENST00000596209.1_Silent_p.P368P					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATATTTGTAGGGTTTCTCTT	0.368000													13	25					0	0	1	0	0
SOX10	6663	broad.mit.edu	37	22	38379617	38379617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr22:38379617G>A	ENST00000396884.2	-	2	457	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	SOX10_ENST00000360880.2_Nonsense_Mutation_p.Q59*|SOX10_ENST00000470555.1_Intron|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	59						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TCGCCGTCCTGCTGCTCCTTC	0.731000													5	14					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11660882	11660882	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr17:11660882G>A	ENST00000262442.3	+	35	6936	c.6868G>A	c.(6868-6870)Gca>Aca	p.A2290T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2290T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2290	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATCAACCCGGCAGACTTGGG	0.433000													3	40					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44581017	44581017	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:44581017G>A	ENST00000322927.2	-	20	3058	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	ZNF335_ENST00000426788.1_Silent_p.S831S	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	986					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CAGAGCTCTGGGAGTCCCCTA	0.642000													9	30					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640749	57640749	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:57640749C>T	ENST00000254181.4	+	4	1160	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USP29_ENST00000598197.1_Missense_Mutation_p.P236S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	236					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGGAAATCCTAACCTAGA	0.413000													14	29					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851035	63851035	+	Silent	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr10:63851035C>T	ENST00000279873.7	+	10	2223	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	ARID5B_ENST00000309334.5_Silent_p.L362L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	605					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCCACCGCTGGCAAACCA	0.537000													6	18					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725369	106725369	+	RNA	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:106725369C>T	ENST00000390609.2	-	0	261																											CCAGCCCCTTCCCTGGAGCCT	0.582000													36	184					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495667	158495667	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:158495667G>A	ENST00000355585.4	+	16	2264	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R730H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R730H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	730							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCAACTACCGCATTGATCTT	0.358000													3	31					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380728	78380728	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:78380728C>T	ENST00000278550.7	-	32	7124	c.6662G>A	c.(6661-6663)gGg>gAg	p.G2221E		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		GTGCAGGTTCCCATTGAGGTC	0.552000													27	57					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286637	71286637	+	Missense_Mutation	SNP	T	T	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:71286637T>A	ENST00000283228.2	-	2	631	c.179A>T	c.(178-180)aAa>aTa	p.K60I		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	60					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)		TCTGTAGATTTTTTGTGGGGC	0.423000													33	55					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250743	10250743	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:10250743G>A	ENST00000340748.4	-	32	3972	c.3737C>T	c.(3736-3738)tCt>tTt	p.S1246F	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1262F|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1246F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1246	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AACCACCAGAGAGTTTTTGAA	0.607000													7	45					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519297	48519297	+	Splice_Site	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:48519297G>A	ENST00000339841.2	+	4	533		c.e4+1		ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1						single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GAAACGAATGGTGAGCCCCTG	0.562000													9	33					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634876	70634876	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr14:70634876G>A	ENST00000381269.2	-	2	1017	c.264C>T	c.(262-264)ttC>ttT	p.F88F	SLC8A3_ENST00000357887.3_Silent_p.F88F|SLC8A3_ENST00000528359.1_Silent_p.F88F|SLC8A3_ENST00000534137.1_Silent_p.F88F|SLC8A3_ENST00000356921.2_Silent_p.F88F	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	88					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACCCCAAGGAACATGTATA	0.493000													11	12					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777235	18777235	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:18777235C>T	ENST00000380548.4	+	19	3347	c.3008C>T	c.(3007-3009)tCc>tTc	p.S1003F		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1003						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGATCTTCTCCAACGGCAGC	0.697000													11	12					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128342434	128342434	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr2:128342434G>A	ENST00000389524.4	+	14	1689	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	MYO7B_ENST00000409816.2_Missense_Mutation_p.D546N|MYO7B_ENST00000428314.1_Missense_Mutation_p.D546N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	546	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAACATCCACGATGCCAGATT	0.547000													21	73					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602051	58602051	+	Missense_Mutation	SNP	C	C	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:58602051C>T	ENST00000287275.1	-	6	1126	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	GLYATL2_ENST00000532258.1_Missense_Mutation_p.E246K	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	246						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	AGATACTTTTCAAGATGATAA	0.383000													16	34					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919753	100919753	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr9:100919753G>A	ENST00000343933.5	-	2	447	c.190C>T	c.(190-192)Ccc>Tcc	p.P64S	CORO2A_ENST00000375077.4_Missense_Mutation_p.P64S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	64					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGTGCAGGGGGATGACGAGG	0.577000													7	11					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804872	54804872	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:54804872G>A	ENST00000306858.7	+	5	1219	c.1103G>A	c.(1102-1104)gGt>gAt	p.G368D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	368										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACTTTAATGGTCCAAACGCA	0.363000													11	32					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919743	30919743	+	Missense_Mutation	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:30919743G>A	ENST00000462446.1	+	2	3530	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_Missense_Mutation_p.E10K			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	299						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAAGTCCACAGAACACCCAGA	0.463000													19	37					0	0	1	0	0
TBC1D32	221322	broad.mit.edu	37	6	121625554	121625554	+	Missense_Mutation	SNP	A	A	G			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr6:121625554A>G	ENST00000275159.6	-	8	891	c.892T>C	c.(892-894)Tat>Cat	p.Y298H	TBC1D32_ENST00000398212.2_Missense_Mutation_p.Y298H					TBC1 domain family, member 32																		TCTTTCTGATATTCATTTAGA	0.363000													12	8					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687455	7687455	+	Silent	SNP	G	G	A			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:7687455G>A	ENST00000358368.4	-	11	1501	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	XAB2_ENST00000534844.1_Silent_p.S485S	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	488					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGGCGAGCATGGACCAGACCT	0.662000								Direct reversal of damage;Nucleotide excision repair (NER)					17	41					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54327417	54327417	+	Silent	SNP	G	G	T			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr19:54327417G>T	ENST00000324134.6	-	1	180	c.12C>A	c.(10-12)acC>acA	p.T4T	NLRP12_ENST00000351894.4_Silent_p.T4T|NLRP12_ENST00000354278.3_Silent_p.T4T|NLRP12_ENST00000391775.3_Silent_p.T4T|NLRP12_ENST00000391773.1_Silent_p.T4T|NLRP12_ENST00000345770.5_Silent_p.T4T|NLRP12_ENST00000391772.1_Silent_p.T4T|NLRP12_ENST00000535162.1_Silent_p.T4T	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	4	DAPIN.				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)		CCCTGCCTGCGGTTCGTAGCA	0.602000													10	29					3.07112e-06	3.11478e-06	1	1	0
CTC-338M12.9	0	broad.mit.edu	37	5	180708698	180708699	+	RNA	INS	-	-	G	rs1815381		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr5:180708698_180708699insG	ENST00000412295.2	+	0	238																											gggcggtaggcgggggctggag	0.723													3	3	---	---	---	---					
SPON1	10418	broad.mit.edu	37	11	14281228	14281228	+	RNA	DEL	G	G	-			TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr11:14281228delG	ENST00000310358.7	+	0	2347							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGGCAGAGAAGTGCATGATGC	0.602													2	4	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132445252	132445253	+	Frame_Shift_Ins	INS	-	-	C	rs71453134		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr12:132445252_132445253insC	ENST00000333577.4	+	2	197_198	c.88_89insC	c.(88-90)ccafs	p.P30fs	EP400_ENST00000330386.6_Frame_Shift_Ins_p.P30fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.P30fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.P30fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.P30fs			Q96L91	EP400_HUMAN	E1A binding protein p400	30					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)		GGAGCAGCCGGCCCACCCCAAC	0.649													2	4	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142441	21142442	+	RNA	INS	-	-	A	rs71715453		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chr20:21142441_21142442insA	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							TTCATTTCTGGAAAAAAAAAAA	0.366													2	4	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-D3-A51J-06A-11D-A25O-08	TCGA-D3-A51J-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2E0E52CC-D483-499B-8E8A-4A77FE552617	FDB50B51-7F81-4D51-B754-72C896911DA3	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	3	---	---	---	---