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
RIN1	9610	broad.mit.edu	37	11	66100057	66100057	+	Missense_Mutation	SNP	T	T	A	rs151239250		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:66100057T>A	ENST00000311320.4	-	10	2168	c.2042A>T	c.(2041-2043)tAc>tTc	p.Y681F	RIN1_ENST00000424433.2_Intron|RIN1_ENST00000530056.1_Missense_Mutation_p.Y515F	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	681	Ras and 14-3-3 protein binding region.|Ras-associating.				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						CAGGCGGTGGTAGCCCTGCTC	0.657000													11	56					0	0	0.001855	0	0
LCE3D	84648	broad.mit.edu	37	1	152552269	152552269	+	Silent	SNP	G	G	T	rs146594158		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:152552269G>T	ENST00000368787.3	-	2	200	c.144C>A	c.(142-144)tcC>tcA	p.S48S		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	48					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		AGCCGCCCTCGGAGCTAGGGC	0.667000													9	94					0.000274275	0.000316619	0.004482	1	0
ZNF133	7692	broad.mit.edu	37	20	18296642	18296642	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:18296642G>T	ENST00000377671.3	+	7	1703	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S	ZNF133_ENST00000401790.1_Missense_Mutation_p.A383S|ZNF133_ENST00000402618.2_Missense_Mutation_p.A320S|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.A386S|ZNF133_ENST00000535822.1_Missense_Mutation_p.A288S|ZNF133_ENST00000538547.1_Missense_Mutation_p.A288S|ZNF133_ENST00000316358.4_Missense_Mutation_p.A383S	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN	zinc finger protein 133	383						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GAAGCCCTACGCCTGCAAGGA	0.597000													28	79					2.12542e-12	3.48759e-12	0.006320	1	0
TRPV5	56302	broad.mit.edu	37	7	142612069	142612069	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:142612069G>T	ENST00000265310.1	-	11	1782	c.1434C>A	c.(1432-1434)ttC>ttA	p.F478L		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	478					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCATGATGGTGAAGGGACCCA	0.557000													24	103					4.59853e-10	7.17022e-10	0.005443	1	0
GPR31	2853	broad.mit.edu	37	6	167570484	167570484	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:167570484G>T	ENST00000366834.1	-	1	1333	c.836C>A	c.(835-837)cCc>cAc	p.P279H		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	279						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GTATACCACGGGGTTGAGCAC	0.602000													13	120					3.52763e-06	4.60552e-06	0.004990	1	0
ITGB8	3696	broad.mit.edu	37	7	20444439	20444439	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:20444439C>A	ENST00000222573.3	+	11	2560	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	ITGB8_ENST00000537992.1_Missense_Mutation_p.H491N	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	626	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CTTCTGTGAACACTGCCCCAC	0.483000													41	138					8.86878e-18	1.59881e-17	0.014410	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	157021	157021	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:157021G>C	ENST00000283426.6	+	9	1464	c.1414G>C	c.(1414-1416)Gac>Cac	p.D472H		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	472					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAAGGGAATGACCAGGTCAG	0.632000													4	15					0	0	0.001168	0	0
ABCA12	26154	broad.mit.edu	37	2	215818780	215818780	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:215818780G>T	ENST00000272895.7	-	44	6664	c.6445C>A	c.(6445-6447)Caa>Aaa	p.Q2149K	ABCA12_ENST00000389661.4_Missense_Mutation_p.Q1831K|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2149					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAACAGAATTGTGGGAAAATC	0.348000													9	185					0.000274275	0.000316619	0.004482	1	0
WNT3A	89780	broad.mit.edu	37	1	228247907	228247907	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:228247907C>A	ENST00000366753.2	+	5	1107	c.1060C>A	c.(1060-1062)Ccc>Acc	p.P354T	WNT3A_ENST00000284523.1_3'UTR			P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	0					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTGCAGGAATCCCGGCTCCAG	0.622000													5	20					0.00307968	0.00339435	0.003080	1	0
ZNF676	163223	broad.mit.edu	37	19	22363326	22363326	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:22363326C>A	ENST00000397121.2	-	3	1510	c.1193G>T	c.(1192-1194)tGt>tTt	p.C398F		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGCTTTGCCACATTCTTCACA	0.418000													9	140					0.00829132	0.00900278	0.008291	1	0
TLR6	10333	broad.mit.edu	37	4	38830606	38830606	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:38830606C>A	ENST00000436693.2	-	2	608	c.489G>T	c.(487-489)ttG>ttT	p.L163F	TLR6_ENST00000381950.1_Missense_Mutation_p.L163F	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	163					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAATTGGCAGCAAATCTAATT	0.343000													5	58					0.014758	0.0157132	0.014758	1	0
OR4P4	81300	broad.mit.edu	37	11	55406718	55406718	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55406718C>A	ENST00000314612.2	+	1	885	c.885C>A	c.(883-885)gcC>gcA	p.A295A		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TGAAGAACGCCATGAGGAAAG	0.393000													22	101					8.10497e-08	1.15185e-07	0.010504	1	0
ERLIN1	10613	broad.mit.edu	37	10	101945297	101945297	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:101945297C>A	ENST00000421367.2	-	1	2794	c.87G>T	c.(85-87)gaG>gaT	p.E29D	ERLIN1_ENST00000407654.3_Missense_Mutation_p.E29D	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	27					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GATGGCCCTCCTCAATCTTGT	0.547000													7	159					7.93312e-07	1.06967e-06	0.002450	1	0
NAV2	89797	broad.mit.edu	37	11	19967974	19967974	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:19967974G>A	ENST00000396085.1	+	9	2535	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q	NAV2_ENST00000396087.3_Missense_Mutation_p.R748Q|NAV2_ENST00000349880.4_Missense_Mutation_p.R725Q|NAV2_ENST00000540292.1_Missense_Mutation_p.R679Q|NAV2_ENST00000360655.4_Missense_Mutation_p.R661Q|NAV2_ENST00000527559.2_Missense_Mutation_p.R677Q	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	748						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGGCGGCTGCGGACAGTGAAG	0.483000													4	11					0	0	0.001168	0	0
OR8K1	390157	broad.mit.edu	37	11	56113826	56113826	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:56113826C>A	ENST00000279783.2	+	1	406	c.312C>A	c.(310-312)gcC>gcA	p.A104A		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTGGTATGCCACTCAGCTAG	0.393000										HNSCC(65;0.19)			20	359					6.44725e-10	9.98186e-10	0.014323	1	0
FRMPD1	22844	broad.mit.edu	37	9	37745306	37745306	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:37745306G>C	ENST00000539465.1	+	16	3870	c.3277G>C	c.(3277-3279)Gag>Cag	p.E1093Q	FRMPD1_ENST00000377765.3_Missense_Mutation_p.E1093Q|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1093						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAATCCAGGAGAGAAGATAGC	0.403000													4	130					0	0	0.009096	0	0
CBLB	868	broad.mit.edu	37	3	105400431	105400431	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:105400431C>A	ENST00000264122.4	-	16	2641	c.2320G>T	c.(2320-2322)Gat>Tat	p.D774Y	CBLB_ENST00000403724.1_3'UTR|CBLB_ENST00000407712.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.D774Y|CBLB_ENST00000394027.3_Intron	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	774	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GGCACGGGATCAGAGGCTGAA	0.433000			Mis S		AML								18	207					3.32936e-07	4.5927e-07	0.006122	1	0
MYH13	8735	broad.mit.edu	37	17	10214506	10214506	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:10214506C>A	ENST00000418404.3	-	32	4733	c.4570G>T	c.(4570-4572)Ggc>Tgc	p.G1524C	MYH13_ENST00000570743.1_Missense_Mutation_p.G1524C|MYH13_ENST00000252172.4_Missense_Mutation_p.G1524C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1524					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						AGATTCTTGCCAGTTTCTGCA	0.448000													6	68					5.9392e-07	8.07437e-07	0.001168	1	0
PTPRB	5787	broad.mit.edu	37	12	70953392	70953392	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:70953392G>T	ENST00000334414.6	-	18	4489	c.4445C>A	c.(4444-4446)cCc>cAc	p.P1482H	PTPRB_ENST00000550857.1_Missense_Mutation_p.P1174H|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1481H|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1264H|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1394H|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1174H|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1174H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1264	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATAAGACTGGGAGGACTTGG	0.448000													11	151					1.5739e-10	2.49548e-10	0.004007	1	0
AKAP7	9465	broad.mit.edu	37	6	131486289	131486289	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:131486289G>T	ENST00000431975.2	+	4	458	c.360G>T	c.(358-360)atG>atT	p.M120I	AKAP7_ENST00000541650.1_Missense_Mutation_p.M119I|AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000368123.4_Missense_Mutation_p.M98I	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CCAAAGCAATGGTCAGTGATG	0.303000													10	95					6.40141e-05	7.68637e-05	0.010729	1	0
POU6F2	11281	broad.mit.edu	37	7	39472830	39472830	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:39472830C>A	ENST00000518318.2	+	7	1223	c.1181C>A	c.(1180-1182)cCc>cAc	p.P394H	POU6F2_ENST00000559001.1_Missense_Mutation_p.P339H|POU6F2_ENST00000403058.1_Missense_Mutation_p.P394H			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	394	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGATCCTGCCCGTGATCAAC	0.602000													7	50					0.00307968	0.00339435	0.003080	1	0
KRTAP9-3	83900	broad.mit.edu	37	17	39389214	39389214	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:39389214G>T	ENST00000411528.2	+	1	500	c.461G>T	c.(460-462)tGc>tTc	p.C154F		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	154	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TACAGCTGCTGCCAGCCTTCT	0.537000													65	229					1.79293e-35	3.63e-35	0.014410	1	0
GTPBP10	85865	broad.mit.edu	37	7	90014232	90014232	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:90014232A>C	ENST00000222511.6	+	10	994	c.928A>C	c.(928-930)Atg>Ctg	p.M310L	GTPBP10_ENST00000257659.8_Missense_Mutation_p.M231L	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	310					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TGAAAAAAACATGATTCCAGA	0.328000													8	85					0	0	0.003080	0	0
USH1C	10083	broad.mit.edu	37	11	17519711	17519711	+	Missense_Mutation	SNP	C	C	A	rs142751309	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:17519711C>A	ENST00000005226.7	-	24	2487	c.2488G>T	c.(2488-2490)Ggg>Tgg	p.G830W	USH1C_ENST00000527020.1_Missense_Mutation_p.G511W|USH1C_ENST00000318024.4_Missense_Mutation_p.G530W|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.G499W	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	530					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						ATTCTTACCCCGCCCTGATTC	0.582000													15	83					6.72482e-11	1.07401e-10	0.003163	1	0
CXCR2	3579	broad.mit.edu	37	2	218999752	218999752	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:218999752C>G	ENST00000318507.2	+	3	655	c.228C>G	c.(226-228)agC>agG	p.S76R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	76					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TCTTATACAGCAGGGTCGGCC	0.547000													7	151					0	0	0.001984	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423488	33423488	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:33423488G>T	ENST00000395064.2	+	2	879	c.611G>T	c.(610-612)gGa>gTa	p.G204V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGTGAACTGGGAGAAGTGCTG	0.552000													16	55					3.41278e-10	5.33399e-10	0.004990	1	0
BZRAP1	9256	broad.mit.edu	37	17	56385040	56385040	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:56385040C>A	ENST00000355701.3	-	24	5785	c.4915G>T	c.(4915-4917)Gtg>Ttg	p.V1639L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.V1639L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.V1579L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1639	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACATTGACACGGGGTCATAG	0.552000													3	24					0.00909568	0.00981141	0.009096	1	0
ROR2	4920	broad.mit.edu	37	9	94486259	94486259	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:94486259C>T	ENST00000375708.3	-	9	2715	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	839	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.P839P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATCTGCACCGGGTAGAAGT	0.662000													10	90					0	0	0.013537	0	0
VSTM2A	222008	broad.mit.edu	37	7	54621671	54621671	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:54621671C>A	ENST00000404951.1	+	5	1061	c.746C>A	c.(745-747)aCg>aAg	p.T249K	VSTM2A_ENST00000407838.3_Intron|VSTM2A_ENST00000402613.3_Intron|VSTM2A_ENST00000498834.1_Intron			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	0						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ACCTTCCCAACGTCACACAGA	0.532000													2	6					0.0016	0.00180893	0.004672	1	0
FCRL2	79368	broad.mit.edu	37	1	157737268	157737268	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:157737268C>A	ENST00000361516.3	-	6	963	c.915G>T	c.(913-915)agG>agT	p.R305S	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.R305S|FCRL2_ENST00000469986.1_Missense_Mutation_p.R52S	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	305	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCCAGGAGACCTGAGGGTGA	0.542000													13	160					0.00244969	0.00274133	0.002450	1	0
PTPN13	5783	broad.mit.edu	37	4	87730931	87730931	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:87730931G>A	ENST00000436978.1	+	46	7588	c.7108G>A	c.(7108-7110)Gtg>Atg	p.V2370M	PTPN13_ENST00000411767.2_Missense_Mutation_p.V2365M|PTPN13_ENST00000316707.6_Missense_Mutation_p.V2174M|PTPN13_ENST00000427191.2_Missense_Mutation_p.V2346M|PTPN13_ENST00000511467.1_Missense_Mutation_p.V2370M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2365	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GACCAGAGAGGTGCGCCATAT	0.378000													20	139					0	0	0.014323	0	0
TGM7	116179	broad.mit.edu	37	15	43574190	43574190	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:43574190G>T	ENST00000452443.2	-	9	1207	c.1203C>A	c.(1201-1203)aaC>aaA	p.N401K		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	401					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTCATCGGCGTTCACCTCGG	0.582000													7	46					5.18039e-06	6.7499e-06	0.003080	1	0
LHX5	64211	broad.mit.edu	37	12	113909175	113909175	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:113909175G>A	ENST00000261731.3	-	1	702	c.129C>T	c.(127-129)tgC>tgT	p.C43C		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	43	LIM zinc-binding 1.					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						CGCGCGAGAAGCACTTCTCCG	0.612000													12	41					0	0	0.004007	0	0
FAT1	2195	broad.mit.edu	37	4	187540406	187540406	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:187540406C>A	ENST00000441802.2	-	10	7543	c.7334G>T	c.(7333-7335)gGg>gTg	p.G2445V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2445	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTGATAATCCCTGTTGCACT	0.438000										HNSCC(5;0.00058)			21	187					1.64113e-05	2.04908e-05	0.010504	1	0
PARK2	5071	broad.mit.edu	37	6	161969900	161969900	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:161969900C>A	ENST00000366898.1	-	9	1171	c.1069G>T	c.(1069-1071)Ggc>Tgc	p.G357C	PARK2_ENST00000366894.1_Missense_Mutation_p.G166C|PARK2_ENST00000366892.1_Missense_Mutation_p.G357C|PARK2_ENST00000338468.3_Missense_Mutation_p.G166C|PARK2_ENST00000366896.1_Missense_Mutation_p.G208C|PARK2_ENST00000366897.1_Missense_Mutation_p.G329C	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	357					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CAGCCCAGGCCATTGCCCCCT	0.587000													16	236					1.67942e-08	2.45568e-08	0.006122	1	0
OR7G2	390882	broad.mit.edu	37	19	9213879	9213879	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:9213879A>T	ENST00000305456.2	-	1	103	c.104T>A	c.(103-105)cTc>cAc	p.L35H		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CAGTCCCAGGAGAAGGAATTT	0.473000													6	99					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152281932	152281932	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:152281932C>T	ENST00000368799.1	-	3	5465	c.5430G>A	c.(5428-5430)caG>caA	p.Q1810Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1810	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGGTGTCCTGACCCTCTT	0.597000									Ichthyosis				60	356					0	0	0.014410	0	0
SON	6651	broad.mit.edu	37	21	34924172	34924172	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr21:34924172G>T	ENST00000356577.4	+	3	3110	c.2635G>T	c.(2635-2637)Ggc>Tgc	p.G879C	SON_ENST00000300278.4_Missense_Mutation_p.G879C|SON_ENST00000381679.4_Missense_Mutation_p.G879C|SON_ENST00000290239.6_Missense_Mutation_p.G879C|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	879	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GTTAGCTTCTGGCACCATGGA	0.473000													10	76					4.68919e-08	6.67854e-08	0.008291	1	0
BAZ1B	9031	broad.mit.edu	37	7	72883886	72883886	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:72883886C>A	ENST00000339594.4	-	9	3165	c.2827G>T	c.(2827-2829)Gac>Tac	p.D943Y	BAZ1B_ENST00000404251.1_Missense_Mutation_p.D943Y	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	943					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTGTGTGGTCTTTGCAGTGA	0.428000													14	82					4.3838e-07	6.02201e-07	0.001855	1	0
KIF2B	84643	broad.mit.edu	37	17	51902347	51902347	+	Silent	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:51902347T>A	ENST00000268919.4	+	1	2109	c.1953T>A	c.(1951-1953)gcT>gcA	p.A651A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	651					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAATTGATGCTCTGACCGAGA	0.453000													16	107					0	0	0.004990	0	0
DST	667	broad.mit.edu	37	6	56458660	56458660	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:56458660C>A	ENST00000370754.5	-	48	12433	c.12434G>T	c.(12433-12435)aGg>aTg	p.R4145M	DST_ENST00000244364.6_Missense_Mutation_p.R1553M|DST_ENST00000370788.2_Missense_Mutation_p.R1879M|DST_ENST00000361203.3_Missense_Mutation_p.R3965M|DST_ENST00000421834.2_Missense_Mutation_p.R1879M|DST_ENST00000312431.6_Missense_Mutation_p.R3965M|DST_ENST00000370769.4_Missense_Mutation_p.R3967M|DST_ENST00000446842.2_Missense_Mutation_p.R3641M			Q03001	DYST_HUMAN	dystonin	3965					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCTTCTGCCTCTTCAATTT	0.428000													58	504					8.4772e-36	1.7216e-35	0.014410	1	0
DZIP1L	199221	broad.mit.edu	37	3	137813704	137813704	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:137813704C>A	ENST00000327532.2	-	4	1070	c.708_splice	c.e4+1	p.Q236_splice	DZIP1L_ENST00000469243.1_Splice_Site_p.Q236_splice	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	236						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCTGCCCACCTGGAGCTGCC	0.567000													14	148					0.00244969	0.00274133	0.002450	1	0
MUC16	94025	broad.mit.edu	37	19	9090970	9090970	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:9090970G>T	ENST00000397910.4	-	1	1048	c.845C>A	c.(844-846)gCg>gAg	p.A282E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	282	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						TGACAAAGGCGCACTGGTACT	0.498000													47	428					3.43241e-23	6.52754e-23	0.009718	1	0
CHRM2	1129	broad.mit.edu	37	7	136700830	136700830	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:136700830G>T	ENST00000445907.2	+	3	1746	c.1218G>T	c.(1216-1218)atG>atT	p.M406I	AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.M406I|CHRM2_ENST00000401861.1_Missense_Mutation_p.M406I|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.M406I|CHRM2_ENST00000402486.3_Missense_Mutation_p.M406I|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.M406I	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	406					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACAATGTCATGGTGCTCATTA	0.468000													19	332					1.50039e-11	2.41383e-11	0.012319	1	0
OTOL1	131149	broad.mit.edu	37	3	161221575	161221575	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:161221575G>T	ENST00000327928.4	+	4	1279	c.1279G>T	c.(1279-1281)Gcc>Tcc	p.A427S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	427	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AATAGACCAGGCCTCTCTCCT	0.493000													14	97					7.93312e-07	1.06967e-06	0.002450	1	0
SEPT6	23157	broad.mit.edu	37	X	118771148	118771148	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:118771148C>A	ENST00000394610.1	-	7	1062	c.798G>T	c.(796-798)gaG>gaT	p.E266D	SEPT6_ENST00000394617.2_Missense_Mutation_p.E296D|SEPT6_ENST00000354416.3_Missense_Mutation_p.E266D|SEPT6_ENST00000394616.4_Missense_Mutation_p.E208D|SEPT6_ENST00000354228.4_Missense_Mutation_p.E266D|SEPT6_ENST00000489216.1_Missense_Mutation_p.E266D|SEPT6_ENST00000343984.5_Missense_Mutation_p.E266D|SEPT6_ENST00000360156.7_Missense_Mutation_p.E266D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	266					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CGCAGTGGGCCTCGTTTTCAA	0.512000			T	MLL	AML								38	107					5.48756e-27	1.06829e-26	0.011902	1	0
SEMA6A	57556	broad.mit.edu	37	5	115783221	115783221	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:115783221C>A	ENST00000343348.6	-	19	2968	c.2181G>T	c.(2179-2181)atG>atT	p.M727I	SEMA6A_ENST00000513137.1_Missense_Mutation_p.M154I|SEMA6A_ENST00000282394.6_Missense_Mutation_p.M204I|SEMA6A_ENST00000510263.1_Missense_Mutation_p.M727I|SEMA6A_ENST00000257414.8_Missense_Mutation_p.M744I|SEMA6A_ENST00000503865.1_Missense_Mutation_p.M106I	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	727					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TGCCGTTGTGCATGAGTGGCG	0.627000													47	305					1.63038e-21	3.05638e-21	0.014410	1	0
HOXB13	10481	broad.mit.edu	37	17	46804191	46804191	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:46804191C>T	ENST00000290295.7	-	2	1400	c.816G>A	c.(814-816)aaG>aaA	p.K272K		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	272					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGAGAACCTTCTTCTCTTTGA	0.577000													24	90					0	0	0.006320	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537605	75537605	+	Missense_Mutation	SNP	C	C	T	rs150713060	by1000genomes	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:75537605C>T	ENST00000524913.1	+	2	818	c.329C>T	c.(328-330)tCg>tTg	p.S110L	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.S110L|ZC2HC1C_ENST00000526748.1_Intron|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.S110L	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	110																	TTGTTTTACTCGTCAGGCCCT	0.498000													10	435					0	0	0.006214	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853951	42853951	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:42853951C>A	ENST00000455697.1	-	8	2441	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.R719L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.R719L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.R719L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.R719L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	719					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTGGATCTCCCGGGCACTTTT	0.473000													42	158					4.75955e-12	7.75194e-12	0.014410	1	0
SLC26A7	115111	broad.mit.edu	37	8	92307886	92307886	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:92307886G>T	ENST00000276609.3	+	4	671	c.432G>T	c.(430-432)agG>agT	p.R144S	SLC26A7_ENST00000523719.1_Missense_Mutation_p.R144S|SLC26A7_ENST00000309536.2_Missense_Mutation_p.R144S	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	144						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAATGCAAAGGATCCACGTTG	0.512000													15	116					1.3612e-06	1.80944e-06	0.003163	1	0
BBS9	27241	broad.mit.edu	37	7	33644806	33644806	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:33644806G>T	ENST00000242067.6	+	23	3153		c.e23-1		BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000396127.2_Splice_Site|BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTTTTTCCAGAAGTTTCACC	0.443000									Bardet-Biedl syndrome				65	270					1.77791e-30	3.51311e-30	0.014410	1	0
SBF1	6305	broad.mit.edu	37	22	50897899	50897899	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:50897899C>A	ENST00000380817.2	-	27	3871	c.3688_splice	c.e27+1	p.G1230_splice	SBF1_ENST00000390679.3_Splice_Site_p.G1230_splice|SBF1_ENST00000348911.6_Splice_Site_p.G1231_splice	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1230	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGAGGTACCTGGAGAAGGT	0.682000													6	28					1.06961e-07	1.50386e-07	0.003080	1	0
CCDC70	83446	broad.mit.edu	37	13	52439953	52439953	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:52439953C>A	ENST00000242819.4	+	2	735	c.439C>A	c.(439-441)Cgg>Agg	p.R147R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	147						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAAGAGACCGGAACCTTCT	0.517000													37	373					1.41851e-31	2.83702e-31	0.005524	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995801	57995801	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:57995801G>A	ENST00000316770.2	-	1	589	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ACATCGCAGAGGAAGTGGTTG	0.642000													8	76					0	0	0.006214	0	0
MAP4K3	8491	broad.mit.edu	37	2	39515294	39515294	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:39515294G>A	ENST00000263881.3	-	20	1766	c.1442C>T	c.(1441-1443)cCc>cTc	p.P481L	MAP4K3_ENST00000536018.1_Missense_Mutation_p.P34L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P460L|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P397L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	481					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				GGGTAATCTGGGAGGTGGTGG	0.458000													31	143					0	0	0.010818	0	0
USH2A	7399	broad.mit.edu	37	1	216371756	216371756	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:216371756C>A	ENST00000366943.2	-	18	4368	c.3982G>T	c.(3982-3984)Ggc>Tgc	p.G1328C	USH2A_ENST00000366942.3_Missense_Mutation_p.G1328C|USH2A_ENST00000307340.3_Missense_Mutation_p.G1328C|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1328	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		GGCTCCAAGCCAGTGATGGTT	0.453000										HNSCC(13;0.011)			15	203					1.3612e-06	1.80944e-06	0.003163	1	0
SPATA13	221178	broad.mit.edu	37	13	24864909	24864909	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:24864909G>T	ENST00000424834.2	+	11	3440	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	SPATA13_ENST00000399949.2_Silent_p.L286L|SPATA13_ENST00000382108.3_Silent_p.L989L|SPATA13_ENST00000382095.4_Silent_p.L364L|SPATA13_ENST00000343003.6_Silent_p.L308L|SPATA13_ENST00000409126.1_Silent_p.L224L			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	364					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GCCGCCTGCTGCAGCAGATGA	0.567000													6	50					2.0095e-06	2.6498e-06	0.001984	1	0
TMEM132A	54972	broad.mit.edu	37	11	60698117	60698117	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:60698117A>T	ENST00000005286.4	+	5	1155	c.1002A>T	c.(1000-1002)acA>acT	p.T334T	TMEM132A_ENST00000453848.2_Silent_p.T334T	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	334						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTGGGCTCACAGAGCCAGATT	0.632000													6	25					0	0	0.001168	0	0
GON4L	54856	broad.mit.edu	37	1	155747565	155747565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:155747565C>A	ENST00000437809.1	-	15	2061	c.1939G>T	c.(1939-1941)Gtg>Ttg	p.V647L	GON4L_ENST00000368331.1_Missense_Mutation_p.V647L|GON4L_ENST00000361040.5_Missense_Mutation_p.V647L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Missense_Mutation_p.V647L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	647					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTCCTTCACTGTCCGATGT	0.448000													8	94					1.06961e-07	1.50386e-07	0.003080	1	0
PDZD8	118987	broad.mit.edu	37	10	119044815	119044815	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:119044815C>A	ENST00000334464.5	-	5	1668	c.1429G>T	c.(1429-1431)Ggt>Tgt	p.G477C	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	477					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		TCTTCATAACCCGATTGGCAT	0.443000													82	307					2.36429e-26	4.5891e-26	0.014410	1	0
HDAC9	9734	broad.mit.edu	37	7	18914169	18914169	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:18914169C>G	ENST00000406451.3	+	22	2894	c.2744C>G	c.(2743-2745)gCa>gGa	p.A915G	HDAC9_ENST00000401921.1_Missense_Mutation_p.A874G|HDAC9_ENST00000441542.2_Missense_Mutation_p.A918G|HDAC9_ENST00000432645.2_Missense_Mutation_p.A915G	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	915	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGATTTGATGCATTGGAAGGC	0.473000													3	22					0	0	0.004672	0	0
ZNF33B	7582	broad.mit.edu	37	10	43078525	43078525	+	RNA	SNP	A	A	G	rs41301639	by1000genomes	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:43078525A>G	ENST00000486187.1	-	0	457							Q06732	ZN33B_HUMAN	zinc finger protein 33B							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGCACTGCAAGGGTTTAATC	0.512000													3	37					0	0	0.004672	0	0
PLCH1	23007	broad.mit.edu	37	3	155211953	155211953	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:155211953A>G	ENST00000460012.1	-	17	2426	c.2069T>C	c.(2068-2070)cTc>cCc	p.L690P	PLCH1_ENST00000340059.7_Missense_Mutation_p.L708P|PLCH1_ENST00000334686.6_Missense_Mutation_p.L690P|PLCH1_ENST00000414191.1_Missense_Mutation_p.L690P|PLCH1_ENST00000447496.2_Missense_Mutation_p.L708P|PLCH1_ENST00000494598.1_Missense_Mutation_p.L708P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	708	PI-PLC Y-box.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTGGGGTTTGAGGACATAGCC	0.393000													10	105					0	0	0.013537	0	0
CIC	23152	broad.mit.edu	37	19	42794391	42794391	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:42794391G>T	ENST00000572681.2	+	11	4266	c.4198G>T	c.(4198-4200)Ggt>Tgt	p.G1400C	CIC_ENST00000160740.3_Missense_Mutation_p.G491C|CIC_ENST00000575354.2_Missense_Mutation_p.G491C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCAGGGCTTTGGTCGGAAGGT	0.632000			"""Mis, F, S"""		oligodendroglioma								15	168					1.37285e-15	2.38348e-15	0.004007	1	0
PNLIP	5406	broad.mit.edu	37	10	118314956	118314956	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:118314956G>T	ENST00000369221.2	+	8	776	c.748G>T	c.(748-750)Gaa>Taa	p.E250*		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	250					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGGAGGAGTGGAAATGCCTGG	0.398000													53	187					1.0442e-30	2.06953e-30	0.014410	1	0
CCDC73	493860	broad.mit.edu	37	11	32724418	32724418	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:32724418C>A	ENST00000531481.1	-	4	556		c.e4+1		CCDC73_ENST00000335185.5_Splice_Site|CCDC73_ENST00000534415.1_Splice_Site			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TATGAAATTACCTGCTTTTTA	0.348000													33	222					6.29468e-14	1.07026e-13	0.004878	1	0
NTRK1	4914	broad.mit.edu	37	1	156845991	156845991	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:156845991G>A	ENST00000368196.3	+	12	1723	c.1603G>A	c.(1603-1605)Gtg>Atg	p.V535M	NTRK1_ENST00000392302.2_Missense_Mutation_p.V505M|NTRK1_ENST00000358660.3_Missense_Mutation_p.V538M|NTRK1_ENST00000524377.1_Missense_Mutation_p.V541M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	541	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CAAGATGCTGGTGGCTGTCAA	0.642000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			7	41					0	0	0.001984	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894042	78894042	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:78894042A>T	ENST00000326828.5	-	5	1326	c.942T>A	c.(940-942)ttT>ttA	p.F314L	CHRNA3_ENST00000348639.3_Missense_Mutation_p.F314L	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	314					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAGGTTACAAAAATCATGG	0.517000													7	121					0	0	0.001984	0	0
SLC22A8	9376	broad.mit.edu	37	11	62782097	62782097	+	Splice_Site	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:62782097C>T	ENST00000336232.2	-	2	469		c.e2+1		SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000430500.2_Splice_Site|SLC22A8_ENST00000311438.8_Splice_Site|SLC22A8_ENST00000545207.1_Splice_Site	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8						response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						CCCAGGCATACCTCTGTCACA	0.617000													11	152					0	0	0.010729	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346265	135346265	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:135346265G>T	ENST00000463117.2	+	7	990	c.718G>T	c.(718-720)Gct>Tct	p.A240S	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.A240S			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	240					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	AAAAAATGTGGCTGAAGTAAA	0.433000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				3	42					2.56e-06	3.36224e-06	0.009096	1	0
DSCAML1	57453	broad.mit.edu	37	11	117310559	117310559	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:117310559G>T	ENST00000321322.6	-	22	4137	c.4136C>A	c.(4135-4137)cCt>cAt	p.P1379H	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1109H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1319					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)		CTTCACAGCAGGGGCTGGATC	0.557000													7	143					0.00307968	0.00339435	0.003080	1	0
USH2A	7399	broad.mit.edu	37	1	216371755	216371755	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:216371755C>A	ENST00000366943.2	-	18	4369	c.3983G>T	c.(3982-3984)gGc>gTc	p.G1328V	USH2A_ENST00000366942.3_Missense_Mutation_p.G1328V|USH2A_ENST00000307340.3_Missense_Mutation_p.G1328V|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1328	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		TGGCTCCAAGCCAGTGATGGT	0.453000										HNSCC(13;0.011)			16	206					1.3612e-06	1.80944e-06	0.003163	1	0
RELN	5649	broad.mit.edu	37	7	103338523	103338523	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:103338523C>T	ENST00000428762.1	-	10	1079	c.920G>A	c.(919-921)aGc>aAc	p.S307N	RELN_ENST00000424685.2_Missense_Mutation_p.S307N|RELN_ENST00000343529.5_Missense_Mutation_p.S307N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	307					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)		GATGATTGTGCTGACATTGGA	0.418000													66	454					0	0	0.014410	0	0
RTTN	25914	broad.mit.edu	37	18	67776792	67776792	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:67776792T>A	ENST00000255674.6	-	28	4131	c.3845A>T	c.(3844-3846)cAc>cTc	p.H1282L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.H1282L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1282							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGAGGAGAGTGTGAGCTCCA	0.478000													16	142					0	0	0.004007	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267197	43267197	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:43267197G>T	ENST00000372585.5	+	3	564	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	SLC22A7_ENST00000372574.3_Missense_Mutation_p.V155L|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Missense_Mutation_p.V155L	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	157						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CGGTGTGCTGGTGGGGGCTGT	0.567000													5	65					0.00198382	0.00222756	0.001984	1	0
MED12L	116931	broad.mit.edu	37	3	151094924	151094924	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:151094924A>G	ENST00000474524.1	+	28	4207	c.4169A>G	c.(4168-4170)gAt>gGt	p.D1390G	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.D1250G	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1390					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGAAGTGCTGATACAAGTAGC	0.373000													28	97					0	0	0.008361	0	0
ABCA9	10350	broad.mit.edu	37	17	67016539	67016539	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:67016539G>T	ENST00000340001.4	-	19	2801	c.2590C>A	c.(2590-2592)Ctg>Atg	p.L864M	ABCA9_ENST00000370732.2_Missense_Mutation_p.L864M|ABCA9_ENST00000453985.2_Missense_Mutation_p.L864M	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	864					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATAGTCCACAGGCTTTTTCTT	0.368000													12	133					0.010729	0.0115543	0.010729	1	0
CCDC74A	90557	broad.mit.edu	37	2	132290296	132290296	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:132290296G>T	ENST00000295171.6	+	5	956	c.818G>T	c.(817-819)aGg>aTg	p.R273M	CCDC74A_ENST00000409856.3_Missense_Mutation_p.R207M|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	273										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ACCACACTTAGGCAGTGCGAA	0.657000													5	36					8.12818e-05	9.63666e-05	0.001984	1	0
OS9	10956	broad.mit.edu	37	12	58114582	58114582	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:58114582G>T	ENST00000315970.7	+	15	1935	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	OS9_ENST00000413095.2_Nonsense_Mutation_p.E371*|OS9_ENST00000389146.6_Nonsense_Mutation_p.E617*|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Nonsense_Mutation_p.E577*|OS9_ENST00000257966.8_Nonsense_Mutation_p.E578*|OS9_ENST00000435406.2_Nonsense_Mutation_p.E525*|OS9_ENST00000551035.1_Nonsense_Mutation_p.E545*|OS9_ENST00000389142.5_Nonsense_Mutation_p.E562*|OS9_ENST00000439210.2_Nonsense_Mutation_p.E503*	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	632					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAGCTGAAGAGGCCCAGAA	0.662000													11	66					1.05317e-09	1.62673e-09	0.002450	1	0
HOXD10	3236	broad.mit.edu	37	2	176981615	176981615	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:176981615G>T	ENST00000249501.4	+	1	309	c.54G>T	c.(52-54)ttG>ttT	p.L18F	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	18						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TAGATTCCTTGATCAGTGCCT	0.468000													8	116					1.12685e-05	1.44536e-05	0.004482	1	0
ZAN	7455	broad.mit.edu	37	7	100344252	100344252	+	RNA	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:100344252G>A	ENST00000542585.1	+	0	1006				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGGCTGTCTGAGCTTTTCCT	0.552000													6	71					0	0	0.001984	0	0
FAM53C	51307	broad.mit.edu	37	5	137681298	137681298	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:137681298G>T	ENST00000239906.5	+	4	1349	c.921_splice	c.e4+1	p.Q307_splice	FAM53C_ENST00000434981.2_Splice_Site_p.Q307_splice|FAM53C_ENST00000513056.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	307								p.Q307H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGATGAATCAGGTGGGACCAG	0.582000													8	59					2.17888e-05	2.68483e-05	0.006214	1	0
ECHDC2	55268	broad.mit.edu	37	1	53370711	53370711	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:53370711C>A	ENST00000536120.1	-	9	1188	c.371G>T	c.(370-372)gGg>gTg	p.G124V	ECHDC2_ENST00000371522.4_Missense_Mutation_p.G170V|ECHDC2_ENST00000358358.5_Missense_Mutation_p.G139V			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	170					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATTACCTGCCCCCGGGAGGAG	0.612000													6	93					0.00198382	0.00222756	0.001984	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50190474	50190474	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:50190474C>A	ENST00000335999.6	-	8	1370	c.1169G>T	c.(1168-1170)aGg>aTg	p.R390M		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	386	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GAAGCCTGGCCTGTGGGCCTC	0.672000													8	36					0.00621372	0.00676925	0.006214	1	0
CLCA2	9635	broad.mit.edu	37	1	86905963	86905963	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:86905963G>T	ENST00000370565.4	+	8	1498	c.1336G>T	c.(1336-1338)Ggt>Tgt	p.G446C		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	446	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CATTGCCCTGGGTTCATCTGC	0.423000													41	281					3.77016e-25	7.2537e-25	0.013114	1	0
DYSF	8291	broad.mit.edu	37	2	71747970	71747970	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:71747970C>T	ENST00000258104.3	+	11	1266	c.989C>T	c.(988-990)tCt>tTt	p.S330F	DYSF_ENST00000413539.2_Missense_Mutation_p.S361F|DYSF_ENST00000410041.1_Missense_Mutation_p.S362F|DYSF_ENST00000429174.2_Missense_Mutation_p.S330F|DYSF_ENST00000409762.1_Missense_Mutation_p.S361F|DYSF_ENST00000409651.1_Missense_Mutation_p.S362F|DYSF_ENST00000409744.1_Missense_Mutation_p.S331F|DYSF_ENST00000409582.3_Missense_Mutation_p.S361F|DYSF_ENST00000409366.1_Missense_Mutation_p.S331F|DYSF_ENST00000394120.2_Missense_Mutation_p.S331F|DYSF_ENST00000410020.3_Missense_Mutation_p.S362F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	330						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATGACTTCTCTGCTGGGGCC	0.572000													5	88					0	0	0.014758	0	0
MBNL1	4154	broad.mit.edu	37	3	152132887	152132887	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:152132887C>T	ENST00000282486.6	+	3	2174	c.332C>T	c.(331-333)cCa>cTa	p.P111L	MBNL1_ENST00000357472.3_Missense_Mutation_p.P111L|MBNL1_ENST00000282488.7_Missense_Mutation_p.P111L|MBNL1_ENST00000493459.1_Missense_Mutation_p.P54L|MBNL1_ENST00000485910.1_Missense_Mutation_p.P111L|MBNL1_ENST00000545754.1_Missense_Mutation_p.P111L|MBNL1_ENST00000492948.1_Missense_Mutation_p.P111L|MBNL1_ENST00000324210.5_Missense_Mutation_p.P111L|MBNL1_ENST00000324196.5_Missense_Mutation_p.P111L|MBNL1_ENST00000355460.2_Missense_Mutation_p.P111L|MBNL1_ENST00000498502.1_Missense_Mutation_p.P111L|MBNL1_ENST00000485509.1_Missense_Mutation_p.P111L|MBNL1_ENST00000463374.1_Missense_Mutation_p.P111L			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	111					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCTGGTGCCCCATTACAACCC	0.428000													14	116					0	0	0.010504	0	0
HERC2	8924	broad.mit.edu	37	15	28375308	28375308	+	Splice_Site	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:28375308C>T	ENST00000261609.7	-	83	12911		c.e83+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTACCTACCATCCTCTGT	0.592000													7	106					0	0	0.003080	0	0
ZNF595	152687	broad.mit.edu	37	4	60024	60024	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:60024T>C	ENST00000509152.2	+	3	389	c.204T>C	c.(202-204)caT>caC	p.H68H	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.H68H					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGAAGATACATGAGACAGCAG	0.458000													9	130					0	0	0.006214	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833351	101833351	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:101833351C>T	ENST00000263468.8	+	6	1855	c.1585C>T	c.(1585-1587)Cac>Tac	p.H529Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.H330Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	529							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTATATACCTCACAATCCTGA	0.299000													11	69					0	0	0.010729	0	0
ZFHX4	79776	broad.mit.edu	37	8	77690615	77690615	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:77690615C>G	ENST00000521891.2	+	4	3713	c.3265C>G	c.(3265-3267)Cca>Gca	p.P1089A	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1063A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1063A|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1063A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1063						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGCCTGGCACCAGAGGAGGA	0.532000										HNSCC(33;0.089)			42	326					0	0	0.009718	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19276199	19276199	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:19276199G>T	ENST00000454498.2	-	8	2208	c.1195C>A	c.(1195-1197)Cat>Aat	p.H399N	CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.H399N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.H399N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.H399N|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.H399N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	399					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ACTGCATCATGGTGGCCGTAT	0.453000													13	74					4.93089e-13	8.19325e-13	0.002450	1	0
NRG1	3084	broad.mit.edu	37	8	32599526	32599526	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:32599526G>T	ENST00000341377.5	+	7	1150	c.632_splice	c.e7-1	p.K211_splice	NRG1_ENST00000521670.1_Splice_Site_p.K211_splice|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000338921.4_Splice_Site_p.K211_splice|NRG1_ENST00000287840.5_Splice_Site_p.K211_splice|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000405005.2_Splice_Site_p.K211_splice			Q02297	NRG1_HUMAN	neuregulin 1	211	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TGCCCTCTAGGTGCCAACCTG	0.383000													11	158					0.0135373	0.0145548	0.013537	1	0
TTF2	8458	broad.mit.edu	37	1	117619347	117619347	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:117619347C>T	ENST00000369466.3	+	7	1519	c.1475C>T	c.(1474-1476)cCc>cTc	p.P492L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	492					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGGTGCCTCCCCAACCCCTT	0.532000													8	83					0	0	0.008291	0	0
AXDND1	126859	broad.mit.edu	37	1	179364232	179364232	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:179364232G>T	ENST00000367618.3	+	11	1391		c.e11-1		AXDND1_ENST00000457238.2_Splice_Site|AXDND1_ENST00000461179.2_Splice_Site	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1											NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTTATTTCAGGGAACTGTGT	0.328000													36	294					1.06647e-15	1.86138e-15	0.003755	1	0
CDK15	65061	broad.mit.edu	37	2	202677286	202677286	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:202677286G>T	ENST00000450471.2	+	4	534		c.e4+1		CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000434439.1_Splice_Site|CDK15_ENST00000488419.1_Splice_Site|CDK15_ENST00000410091.3_Splice_Site|CDK15_ENST00000374598.4_Splice_Site	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ATCCGAGAAGGTAAGAACAGC	0.388000													20	107					1.22574e-08	1.81652e-08	0.014323	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121637945	121637945	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:121637945C>A	ENST00000393386.2	+	10	1536	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	PTPRZ1_ENST00000449182.1_Silent_p.L375L	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	375	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGCTATTCTCAATAATTTGC	0.353000													9	40					7.48243e-07	1.01305e-06	0.006214	1	0
DZIP3	9666	broad.mit.edu	37	3	108327004	108327004	+	Splice_Site	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:108327004T>A	ENST00000361582.3	+	3	331	c.102_splice	c.e3+1	p.L34_splice	DZIP3_ENST00000463306.1_Splice_Site_p.L34_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	34					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCTGGTCAACTGGTAAGAGAA	0.299000													9	131					0	0	0.004482	0	0
LRP12	29967	broad.mit.edu	37	8	105510247	105510247	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:105510247C>A	ENST00000276654.5	-	5	641	c.533G>T	c.(532-534)tGt>tTt	p.C178F	LRP12_ENST00000424843.2_Missense_Mutation_p.C159F	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	178	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGGTATACACTTTCCATT	0.413000													25	138					2.79863e-10	4.38452e-10	0.004656	1	0
C2orf57	165100	broad.mit.edu	37	2	232457843	232457843	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:232457843G>T	ENST00000313965.2	+	1	269	c.181G>T	c.(181-183)Gcc>Tcc	p.A61S		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	61										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCCCAGGGCCATATCAAC	0.537000													17	73					1.99824e-07	2.78568e-07	0.004990	1	0
STAP1	26228	broad.mit.edu	37	4	68449312	68449312	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:68449312G>T	ENST00000265404.2	+	6	633	c.551G>T	c.(550-552)cGg>cTg	p.R184L	STAP1_ENST00000396225.1_Missense_Mutation_p.R184L	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	184	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ACAGTGTCCCGGAAAGAGGCA	0.373000													10	40					1.11149e-13	1.87528e-13	0.008291	1	0
HMSD	284293	broad.mit.edu	37	18	61620724	61620724	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:61620724T>A	ENST00000408945.3	+	2	237	c.35T>A	c.(34-36)aTg>aAg	p.M12K	HMSD_ENST00000481726.1_Intron	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	12						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						ATGGTTTTCATGGGGGCAAAG	0.408000													4	73					0	0	0.001168	0	0
PTPRB	5787	broad.mit.edu	37	12	70953393	70953393	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:70953393G>C	ENST00000334414.6	-	18	4488	c.4444C>G	c.(4444-4446)Ccc>Gcc	p.P1482A	PTPRB_ENST00000550857.1_Missense_Mutation_p.P1174A|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1481A|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1264A|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1394A|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1174A|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1174A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1264	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATAAGACTGGGAGGACTTGGA	0.443000													11	154					0	0	0.002450	0	0
OR5D13	390142	broad.mit.edu	37	11	55541459	55541459	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55541459C>A	ENST00000361760.1	+	1	546	c.546C>A	c.(544-546)gaC>gaA	p.D182E		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TTATCTGTGACCACTCTGTAA	0.393000													25	247					6.12954e-19	1.12346e-18	0.004656	1	0
PSAP	5660	broad.mit.edu	37	10	73590956	73590956	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:73590956T>G	ENST00000394936.3	-	4	449	c.302A>C	c.(301-303)aAc>aCc	p.N101T	PSAP_ENST00000394934.1_Missense_Mutation_p.N101T			P07602	SAP_HUMAN	prosaposin	101	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGCAGACATGTTCGGTTTCGG	0.493000													9	28					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21242677	21242677	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:21242677G>T	ENST00000233242.1	-	19	3044	c.2917C>A	c.(2917-2919)Ctg>Atg	p.L973M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	973					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L973M(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGTAATTCAGGCCAGGAAAG	0.537000													37	192					3.33393e-15	5.77297e-15	0.004878	1	0
RAP2B	5912	broad.mit.edu	37	3	152880634	152880634	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:152880634C>T	ENST00000323534.2	+	1	606	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	51					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCGTCGCCGTCGGTGCTGGAG	0.602000													6	39					0	0	0.008291	0	0
MSH3	4437	broad.mit.edu	37	5	80040324	80040324	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:80040324G>T	ENST00000265081.6	+	12	1733		c.e12-1		MSH3_ENST00000512258.1_Splice_Site	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3						maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GTCTTTCTTAGACTGATATGA	0.368000								Mismatch excision repair (MMR)					5	35					1.23904e-05	1.56485e-05	0.014758	1	0
OR4M1	441670	broad.mit.edu	37	14	20249408	20249408	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:20249408G>T	ENST00000315957.4	+	1	1008	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L309L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AATATATTTTGTGTGAAGAGA	0.343000													11	45					1.5842e-08	2.32161e-08	0.001855	1	0
SZT2	23334	broad.mit.edu	37	1	43896034	43896034	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:43896034C>T	ENST00000562955.1	+	30	4283	c.4283C>T	c.(4282-4284)tCa>tTa	p.S1428L	SZT2_ENST00000372442.1_Missense_Mutation_p.S586L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1485						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGGAGTTTTCAGAGGCTGAG	0.527000													7	122					0	0	0.006214	0	0
AKR1D1	6718	broad.mit.edu	37	7	137782631	137782631	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:137782631C>A	ENST00000242375.3	+	4	440	c.398C>A	c.(397-399)cCt>cAt	p.P133H	AKR1D1_ENST00000432161.1_Missense_Mutation_p.P133H|AKR1D1_ENST00000411726.2_Missense_Mutation_p.P133H|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	133			P -> R (in CBAS2).		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						GAAATATACCCTAGAGATGAG	0.294000													17	167					1.01871e-10	1.61911e-10	0.008871	1	0
VAV3	10451	broad.mit.edu	37	1	108247587	108247587	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:108247587G>A	ENST00000370056.4	-	16	1873	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	VAV3_ENST00000527011.1_Silent_p.L533L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Silent_p.L468L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	533					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTACCTCAGGAGCATCTGGC	0.418000													7	52					0	0	0.004482	0	0
DNAI1	27019	broad.mit.edu	37	9	34514443	34514443	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:34514443A>G	ENST00000242317.4	+	17	1792	c.1621A>G	c.(1621-1623)Atg>Gtg	p.M541V		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	541					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CGCCCACAACATGTCAGTGGA	0.552000									Kartagener syndrome				11	100					0	0	0.002450	0	0
NEK1	4750	broad.mit.edu	37	4	170327885	170327885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:170327885C>A	ENST00000439128.2	-	30	3792	c.3152G>T	c.(3151-3153)tGt>tTt	p.C1051F	NEK1_ENST00000511633.1_Missense_Mutation_p.C1035F|NEK1_ENST00000512193.1_Missense_Mutation_p.C982F|NEK1_ENST00000507142.1_Missense_Mutation_p.C1079F|NEK1_ENST00000510533.1_Missense_Mutation_p.C1007F	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1051					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TGGAAGTGAACATGTCCTTAA	0.313000													6	74					0.000274275	0.000316619	0.004482	1	0
SAMD9	54809	broad.mit.edu	37	7	92735270	92735270	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:92735270C>A	ENST00000379958.2	-	3	410	c.141G>T	c.(139-141)aaG>aaT	p.K47N		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	47	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTTAACCACTTCAAGACTG	0.373000													19	208					3.51602e-12	5.74079e-12	0.008871	1	0
AK9	221264	broad.mit.edu	37	6	109962787	109962787	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:109962787T>C	ENST00000424296.2	-	10	943	c.867A>G	c.(865-867)ctA>ctG	p.L289L	AK9_ENST00000285397.5_Silent_p.L289L|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Silent_p.L289L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CTGCTCTTTTTAGGTTCAGAT	0.323000													6	98					0	0	0.003080	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431240	117431240	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:117431240G>A	ENST00000160373.3	-	4	2101	c.2010C>T	c.(2008-2010)ccC>ccT	p.P670P		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	670										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGCACTAACGGGGTTTATGG	0.498000													15	210					0	0	0.002450	0	0
STAG3	10734	broad.mit.edu	37	7	99786548	99786548	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:99786548T>C	ENST00000426455.1	+	7	1031	c.624T>C	c.(622-624)taT>taC	p.Y208Y	STAG3_ENST00000317296.5_Silent_p.Y208Y|STAG3_ENST00000394018.2_Silent_p.Y150Y			Q9UJ98	STAG3_HUMAN	stromal antigen 3	208					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)					GCCTCCTCTATGATGGCTTCC	0.552000													29	192					0	0	0.007291	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317994	30317994	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:30317994C>T	ENST00000375377.1	-	3	1184	c.1083G>A	c.(1081-1083)acG>acA	p.T361T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	361	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTATGGGCACCGTGTCTTCCA	0.607000													8	156					0	0	0.008291	0	0
TMTC1	83857	broad.mit.edu	37	12	29709922	29709922	+	Missense_Mutation	SNP	C	C	A	rs141015646	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:29709922C>A	ENST00000256062.5	-	10	1693	c.1220G>T	c.(1219-1221)cGc>cTc	p.R407L	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Missense_Mutation_p.R515L|TMTC1_ENST00000551659.1_Missense_Mutation_p.R577L|TMTC1_ENST00000381224.2_Missense_Mutation_p.R469L|TMTC1_ENST00000552618.1_Missense_Mutation_p.R539L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACTTGCATGGCGTGGATACAA	0.448000													37	178					3.61848e-18	6.55911e-18	0.007835	1	0
HGFAC	3083	broad.mit.edu	37	4	3444491	3444491	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:3444491A>T	ENST00000382774.3	+	2	265	c.150A>T	c.(148-150)acA>acT	p.T50T	HGFAC_ENST00000511533.1_Silent_p.T50T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	50					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTAATGCCACAGCGACCCCTG	0.617000													3	26					0	0	0.004672	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5182390	5182390	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:5182390G>T	ENST00000274181.7	+	4	873	c.735G>T	c.(733-735)aaG>aaT	p.K245N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K245N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	245					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						TGCCACAAAAGCAGCATTTCT	0.502000													27	41					6.07928e-31	1.21217e-30	0.009718	1	0
COL11A1	1301	broad.mit.edu	37	1	103352456	103352456	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:103352456C>A	ENST00000358392.2	-	63	5118	c.4801G>T	c.(4801-4803)Gac>Tac	p.D1601Y	COL11A1_ENST00000353414.4_Missense_Mutation_p.D1550Y|COL11A1_ENST00000370096.3_Missense_Mutation_p.D1589Y|COL11A1_ENST00000512756.1_Missense_Mutation_p.D1473Y	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1589	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGCTCAATGTCTTGTTTCAGG	0.418000													15	191					3.32936e-07	4.5927e-07	0.006122	1	0
EPHA3	2042	broad.mit.edu	37	3	89390951	89390951	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:89390951C>T	ENST00000336596.2	+	5	1242	c.1017C>T	c.(1015-1017)acC>acT	p.T339T	EPHA3_ENST00000494014.1_Silent_p.T339T|EPHA3_ENST00000452448.2_Silent_p.T339T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	339	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TAAACGAGACCTCAGTTATCC	0.403000										TSP Lung(6;0.00050)			11	109					0	0	0.001855	0	0
PAK7	57144	broad.mit.edu	37	20	9520240	9520240	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:9520240G>T	ENST00000378429.3	-	11	2575	c.2029C>A	c.(2029-2031)Cta>Ata	p.L677I	PAK7_ENST00000353224.5_Missense_Mutation_p.L677I|PAK7_ENST00000378423.1_Missense_Mutation_p.L677I	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	677	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			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)			ATCAAGTCTAGGAATCCCCGG	0.498000													84	309					1.69331e-39	3.44954e-39	0.014410	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971108	21971108	+	Missense_Mutation	SNP	C	C	T	rs11552822		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:21971108C>T	ENST00000579755.1	-	2	585	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CDKN2A_ENST00000446177.1_Missense_Mutation_p.D84N|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D84N|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D84N|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R98Q|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D33N|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D33N|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R139Q|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D33N			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			H -> P (in CMM2).|H -> Q (in CMM2).		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.?(44)|p.D84Y(11)|p.D84N(7)|p.D84fs*63(2)|p.D84H(2)|p.H83fs*2(2)|p.R139Q(2)|p.D84fs*1(1)|p.D84_F90del(1)|p.R139L(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(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)		CGGGCAGCGTCGTGCACGGGT	0.741000	D84Y(DU145_PROSTATE)|D84Y(LK2_LUNG)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			7	22					0	0	0.010729	0	0
CCR3	1232	broad.mit.edu	37	3	46307221	46307221	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:46307221C>G	ENST00000357422.2	+	4	1115	c.572C>G	c.(571-573)aCa>aGa	p.T191R	CCR3_ENST00000541018.1_Missense_Mutation_p.T191R|CCR3_ENST00000545097.1_Missense_Mutation_p.T212R|CCR3_ENST00000395942.2_Missense_Mutation_p.T191R|CCR3_ENST00000395940.2_Missense_Mutation_p.T191R			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	191					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CCAGAGGATACAGTATATAGC	0.463000													25	247					0	0	0.006320	0	0
MLH3	27030	broad.mit.edu	37	14	75498773	75498773	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:75498773T>A	ENST00000355774.2	-	8	4040	c.3825A>T	c.(3823-3825)ttA>ttT	p.L1275F	MLH3_ENST00000556740.1_Missense_Mutation_p.L1275F|MLH3_ENST00000238662.7_Missense_Mutation_p.L1251F|MLH3_ENST00000380968.2_Missense_Mutation_p.L221F|MLH3_ENST00000544985.1_3'UTR|MLH3_ENST00000556257.1_Intron	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1275					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTACTGACCATAAGAGTCTCC	0.403000								Mismatch excision repair (MMR)					15	77					0	0	0.002450	0	0
ANK3	288	broad.mit.edu	37	10	61898827	61898827	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:61898827C>A	ENST00000280772.1	-	24	2824	c.2633G>T	c.(2632-2634)gGg>gTg	p.G878V	ANK3_ENST00000503366.1_Missense_Mutation_p.G879V|ANK3_ENST00000460468.1_Missense_Mutation_p.G42V|ANK3_ENST00000373827.2_Missense_Mutation_p.G872V|ANK3_ENST00000355288.2_Missense_Mutation_p.G12V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	878					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						GTCTGTGTCCCCGGTCATTGC	0.483000													19	305					1.50039e-11	2.41383e-11	0.012319	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43769219	43769219	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:43769219G>C	ENST00000389420.3	-	36	5408	c.5409C>G	c.(5407-5409)agC>agG	p.S1803R		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1803	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTTATTTTGCTGAAAACAG	0.338000													24	165					0	0	0.016522	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42159028	42159028	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:42159028G>T	ENST00000444063.1	+	7	1023	c.891G>T	c.(889-891)gaG>gaT	p.E297D	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E365D|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.E365D|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E297D|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E297D			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	297					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCTGGTTCGAGAAGACGGGCC	0.572000													30	101					1.30998e-17	2.35511e-17	0.005524	1	0
PRSS12	8492	broad.mit.edu	37	4	119259402	119259402	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:119259402A>T	ENST00000296498.3	-	2	852	c.570T>A	c.(568-570)gtT>gtA	p.V190V		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	190	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGTGCCCCAAACTCCACTTG	0.478000													6	61					0	0	0.001984	0	0
SLC38A4	55089	broad.mit.edu	37	12	47172453	47172453	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:47172453G>C	ENST00000447411.1	-	10	1030	c.824C>G	c.(823-825)cCc>cGc	p.P275R	SLC38A4_ENST00000266579.4_Missense_Mutation_p.P275R	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	275					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					AGAGTTGTTGGGTAACATTAC	0.463000													12	133					0	0	0.002450	0	0
DCDC1	341019	broad.mit.edu	37	11	30938552	30938552	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:30938552A>T	ENST00000597505.1	-	24	3316	c.3317T>A	c.(3316-3318)cTt>cAt	p.L1106H	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.L185H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTTCATTCGAAGATGAGCTCT	0.413000													9	157					0	0	0.008291	0	0
GLI2	2736	broad.mit.edu	37	2	121748105	121748105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:121748105C>T	ENST00000452319.1	+	14	4675	c.4615C>T	c.(4615-4617)Cag>Tag	p.Q1539*	GLI2_ENST00000361492.4_Nonsense_Mutation_p.Q1539*|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1539					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCCTCTCCCAGAACTCCTC	0.617000													12	111					0	0	0.004990	0	0
TTC17	55761	broad.mit.edu	37	11	43423014	43423014	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:43423014G>T	ENST00000039989.4	+	10	1252	c.1238G>T	c.(1237-1239)cGa>cTa	p.R413L	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R413L	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	413							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CAGATATGCCGACTGGTCAAC	0.398000													13	47					1.61879e-10	2.56049e-10	0.013537	1	0
PIK3C3	5289	broad.mit.edu	37	18	39584342	39584342	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:39584342G>T	ENST00000262039.4	+	10	1093	c.1007G>T	c.(1006-1008)tGt>tTt	p.C336F	PIK3C3_ENST00000398870.3_Missense_Mutation_p.C273F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	336				FLKCVN -> ILTSVI (in Ref. 1; CAA87094).	cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCTTGAAATGTGTTAATTGG	0.408000										TSP Lung(28;0.18)			11	106					1.5842e-08	2.32161e-08	0.001855	1	0
ASPM	259266	broad.mit.edu	37	1	197111989	197111989	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:197111989T>C	ENST00000367409.4	-	3	1649	c.1393A>G	c.(1393-1395)Ata>Gta	p.I465V	ASPM_ENST00000294732.7_Missense_Mutation_p.I465V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	465					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTGTTTTATAAAACTGTAG	0.343000													37	144					0	0	0.004878	0	0
LARP4	113251	broad.mit.edu	37	12	50867819	50867819	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:50867819T>C	ENST00000398473.2	+	15	1817	c.1705T>C	c.(1705-1707)Tct>Cct	p.S569P	LARP4_ENST00000347328.5_Missense_Mutation_p.S498P|LARP4_ENST00000429001.3_Missense_Mutation_p.S575P|LARP4_ENST00000293618.8_Missense_Mutation_p.S498P|LARP4_ENST00000518444.1_Missense_Mutation_p.S568P	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	569							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGAAGATTCCTCTGTTCAGAA	0.388000													16	120					0	0	0.006122	0	0
PLCL1	5334	broad.mit.edu	37	2	198950308	198950308	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:198950308G>T	ENST00000428675.1	+	2	2465	c.2067G>T	c.(2065-2067)ggG>ggT	p.G689G	PLCL1_ENST00000437704.2_Silent_p.G591G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	689	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCAAAACGGGGGATGTGGTT	0.468000													10	313					0.000442599	0.000508255	0.006214	1	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													3	26					0	0	0.014758	0	0
GMEB1	10691	broad.mit.edu	37	1	29037045	29037045	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:29037045C>T	ENST00000373816.1	+	9	1020	c.882C>T	c.(880-882)ctC>ctT	p.L294L	GMEB1_ENST00000361872.4_Silent_p.L294L|GMEB1_ENST00000294409.2_Silent_p.L304L|GMEB1_ENST00000480454.1_3'UTR	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTTCTCAACAATGTAG	0.388000													20	121					0	0	0.010504	0	0
P2RX7	5027	broad.mit.edu	37	12	121592673	121592673	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:121592673G>T	ENST00000546057.1	+	2	354	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	P2RX7_ENST00000535250.1_5'UTR|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.V71L|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000541446.1_5'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	71						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATAGCAGAGGTGAAAGAGGA	0.512000													18	247					5.35267e-07	7.32236e-07	0.007413	1	0
LPPR4	9890	broad.mit.edu	37	1	99771695	99771695	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:99771695C>T	ENST00000370185.3	+	7	1918	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	LPPR4_ENST00000370184.1_Missense_Mutation_p.P316L|LPPR4_ENST00000457765.1_Missense_Mutation_p.P416L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		474							phosphatidate phosphatase activity	p.P474H(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CAGTCACCACCCAGATCCATA	0.517000													23	242					0	0	0.016522	0	0
GNA13	10672	broad.mit.edu	37	17	63052483	63052483	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:63052483C>G	ENST00000439174.2	-	1	474	c.229G>C	c.(229-231)Gac>Cac	p.D77H		NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	77					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GCGCGCTGGTCGAAGTCCTGC	0.662000													6	33					0	0	0.001168	0	0
PYDC2	152138	broad.mit.edu	37	3	191179090	191179090	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:191179090G>T	ENST00000518817.1	+	1	139	c.139G>T	c.(139-141)Gta>Tta	p.V47L		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	47	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CCAGACAGAGGTAGACAAGGC	0.517000													15	148					2.61681e-11	4.19967e-11	0.002450	1	0
ITGA4	3676	broad.mit.edu	37	2	182390005	182390005	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:182390005C>G	ENST00000397033.2	+	21	2756	c.2326C>G	c.(2326-2328)Ctg>Gtg	p.L776V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	776					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TGAGGTTAAGCTGACTGTTCA	0.348000													5	87					0	0	0.001984	0	0
OR5M1	390168	broad.mit.edu	37	11	56380109	56380109	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:56380109A>G	ENST00000526538.1	-	1	869	c.870T>C	c.(868-870)taT>taC	p.Y290Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCCGTAGGCTATAGATCAATG	0.403000													29	335					0	0	0.010818	0	0
SSRP1	6749	broad.mit.edu	37	11	57102589	57102589	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:57102589C>T	ENST00000278412.2	-	2	273	c.7G>A	c.(7-9)Gag>Aag	p.E3K		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	3					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	p.E3*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCCAGTGTCTCTGCCATGTCG	0.567000													12	171					0	0	0.013537	0	0
RIMS2	9699	broad.mit.edu	37	8	104898361	104898361	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:104898361T>C	ENST00000507740.1	+	2	1194	c.958T>C	c.(958-960)Ttg>Ctg	p.L320L	RIMS2_ENST00000262231.10_Silent_p.L320L|RIMS2_ENST00000406091.3_Silent_p.L512L|RIMS2_ENST00000436393.2_Silent_p.L290L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	543					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)			CCAGATTTCGTTGAGCAGTTC	0.433000										HNSCC(12;0.0054)			21	206					0	0	0.016522	0	0
CENPB	1059	broad.mit.edu	37	20	3767008	3767008	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:3767008C>A	ENST00000379751.4	-	1	329	c.123G>T	c.(121-123)acG>acT	p.T41T		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	41	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TCGTGCTCAGCGTGGACGGCG	0.637000													8	22					0.00448238	0.00491568	0.004482	1	0
MOV10	4343	broad.mit.edu	37	1	113232258	113232258	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:113232258G>C	ENST00000369644.1	+	5	1424	c.395G>C	c.(394-396)tGt>tCt	p.C132S	MOV10_ENST00000413052.2_Missense_Mutation_p.C188S|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.C188S|MOV10_ENST00000369645.1_Missense_Mutation_p.C188S			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	188					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGTTGCCCTGTCCACTGGGC	0.557000													9	74					0	0	0.006214	0	0
TNS1	7145	broad.mit.edu	37	2	218683451	218683451	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:218683451T>C	ENST00000171887.4	-	24	3744	c.3292A>G	c.(3292-3294)Agc>Ggc	p.S1098G	TNS1_ENST00000430930.1_Missense_Mutation_p.S1077G|TNS1_ENST00000419504.1_Missense_Mutation_p.S1085G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1098	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGTCACTGCTCTCTCCCGAC	0.607000													9	98					0	0	0.008291	0	0
PCDH15	65217	broad.mit.edu	37	10	55913025	55913025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:55913025G>T	ENST00000373965.2	-	15	2034	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	PCDH15_ENST00000395438.1_Nonsense_Mutation_p.S540*|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.S503*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.S518*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.S151*|PCDH15_ENST00000320301.6_Nonsense_Mutation_p.S540*|PCDH15_ENST00000373955.1_Nonsense_Mutation_p.S540*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Nonsense_Mutation_p.S540*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.S540*|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.S540*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.S547*|PCDH15_ENST00000373957.3_Nonsense_Mutation_p.S518*|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.S545*|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.S540*|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	540	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCCCCATTTGACCCTTCGTC	0.463000										HNSCC(58;0.16)			57	236					7.50695e-29	1.4745e-28	0.014410	1	0
PSPC1	55269	broad.mit.edu	37	13	20346466	20346466	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:20346466C>T	ENST00000338910.4	-	2	749	c.590G>A	c.(589-591)gGa>gAa	p.G197E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	197	RRM 2.|Sufficient for paraspeckles localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		AAAACCTTTTCCTGTAGCTCT	0.443000													14	97					0	0	0.003163	0	0
ISM2	145501	broad.mit.edu	37	14	77948824	77948824	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:77948824C>G	ENST00000393684.3	-	5	941	c.550G>C	c.(550-552)Gac>Cac	p.D184H	ISM2_ENST00000342219.4_Missense_Mutation_p.D272H|ISM2_ENST00000412904.1_Missense_Mutation_p.D191H|ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.D191H			Q6H9L7	ISM2_HUMAN	isthmin 2	272						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tagtcctcgtcttcctccttt	0.547000													22	46					0	0	0.010504	0	0
TIA1	7072	broad.mit.edu	37	2	70457967	70457967	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:70457967T>C	ENST00000433529.2	-	3	353	c.143A>G	c.(142-144)tAt>tGt	p.Y48C	TIA1_ENST00000416149.2_Missense_Mutation_p.Y48C|TIA1_ENST00000415783.2_Missense_Mutation_p.Y48C|TIA1_ENST00000282574.4_Missense_Mutation_p.Y48C|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Missense_Mutation_p.Y48C	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	48	RRM 1.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CACAAAACAATAGGGATCATT	0.363000													7	108					0	0	0.003080	0	0
BRINP1	1620	broad.mit.edu	37	9	122075649	122075649	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:122075649T>A	ENST00000265922.3	-	0	446				DBC1_ENST00000373964.2_De_novo_Start_OutOfFrame	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN							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						TCTGCCGGCCTTTTTCCTCTC	0.463000													14	57					0	0	0.001855	0	0
WNK4	65266	broad.mit.edu	37	17	40939444	40939444	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:40939444C>G	ENST00000246914.5	+	7	1646	c.1625C>G	c.(1624-1626)gCa>gGa	p.A542G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	542					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCTCCACCAGCAACTGTGCCC	0.637000													21	79					0	0	0.004656	0	0
IGSF3	3321	broad.mit.edu	37	1	117131683	117131683	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:117131683C>A	ENST00000369486.3	-	8	2838	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	IGSF3_ENST00000369483.1_Silent_p.L711L|IGSF3_ENST00000318837.6_Silent_p.L711L	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	691	Ig-like C2-type 6.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGTTTTCCACCAGGGTGAGGG	0.532000													25	318					1.12875e-08	1.67657e-08	0.006320	1	0
ZNF80	7634	broad.mit.edu	37	3	113955551	113955551	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:113955551C>G	ENST00000482457.2	-	1	874	c.371G>C	c.(370-372)cGc>cCc	p.R124P		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				GTGAATCTGGCGGTAGCACAG	0.557000													11	44					0	0	0.008291	0	0
CCDC70	83446	broad.mit.edu	37	13	52439952	52439952	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:52439952C>A	ENST00000242819.4	+	2	734	c.438C>A	c.(436-438)gaC>gaA	p.D146E		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	146						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGGAAAGAGACCGGAACCTTC	0.522000													38	369					1.43246e-33	2.88245e-33	0.007835	1	0
OR6C68	403284	broad.mit.edu	37	12	55886576	55886576	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:55886576T>A	ENST00000379662.1	+	1	430	c.430T>A	c.(430-432)Tgc>Agc	p.C144S	OR6C68_ENST00000548615.1_Missense_Mutation_p.C139S|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						CAACAAAGTGTGCAAAACAAT	0.393000													24	210					0	0	0.006320	0	0
PRSS35	167681	broad.mit.edu	37	6	84233451	84233451	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:84233451G>C	ENST00000536636.1	+	3	636	c.291G>C	c.(289-291)agG>agC	p.R97S	PRSS35_ENST00000369700.3_Missense_Mutation_p.R97S	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	97					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		CCTTAACCAGGGTGAAAGTTC	0.458000													5	100					0	0	0.001168	0	0
OASL	8638	broad.mit.edu	37	12	121461898	121461898	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:121461898T>A	ENST00000339275.5	-	4	884	c.700A>T	c.(700-702)Aga>Tga	p.R234*	OASL_ENST00000257570.5_Silent_p.A314A	NM_198213.2	NP_937856.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	0					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTACCCTTCTGCCACGTTGA	0.567000													18	92					0	0	0.012319	0	0
NOTCH2	4853	broad.mit.edu	37	1	120468434	120468434	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:120468434C>A	ENST00000256646.2	-	25	4225		c.e25-1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.?(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGAAAATCCCTGTGGAAATC	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	42					0.000157383	0.000185256	0.003080	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622356	18622356	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:18622356C>G	ENST00000380548.4	+	5	929	c.590C>G	c.(589-591)tCc>tGc	p.S197C	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S197C|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S197C|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.S197C|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S197C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	197						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)		TCCCAGCTCTCCGCAACCAAA	0.552000													13	76					0	0	0.002450	0	0
NPAP1	23742	broad.mit.edu	37	15	24922505	24922505	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:24922505C>T	ENST00000329468.2	+	1	1965	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTCTGACCCCCCAACACCTC	0.522000													16	452					0	0	0.006122	0	0
IMMT	10989	broad.mit.edu	37	2	86371860	86371860	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:86371860C>T	ENST00000410111.3	-	15	2195	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	IMMT_ENST00000409051.2_Missense_Mutation_p.C556Y|IMMT_ENST00000442664.2_Missense_Mutation_p.C602Y|IMMT_ENST00000449247.2_Missense_Mutation_p.C592Y|IMMT_ENST00000254636.5_Missense_Mutation_p.C504Y	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	603						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTATCAGAACAGTTGGCTTT	0.498000													29	143					0	0	0.005443	0	0
CHST1	8534	broad.mit.edu	37	11	45672159	45672159	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:45672159G>T	ENST00000308064.2	-	4	985	c.315C>A	c.(313-315)acC>acA	p.T105T		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	105					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TCTTGCCCTGGGTGAAGCGGG	0.637000													13	49					2.31682e-05	2.84948e-05	0.003163	1	0
CCDC38	120935	broad.mit.edu	37	12	96288796	96288796	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:96288796G>T	ENST00000344280.3	-	8	1300	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	248										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GATGATATTTGCTTTACTTTT	0.323000													42	189					1.5731e-28	3.08066e-28	0.011902	1	0
OR4S2	219431	broad.mit.edu	37	11	55418706	55418706	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55418706G>C	ENST00000312422.2	+	1	327	c.327G>C	c.(325-327)gaG>gaC	p.E109D		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTGCACTGAGATCTTCATCC	0.418000													28	590					0	0	0.006320	0	0
SPEN	23013	broad.mit.edu	37	1	16260605	16260605	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:16260605C>G	ENST00000375759.3	+	11	8074	c.7870C>G	c.(7870-7872)Cgg>Ggg	p.R2624G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2624	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGTTATTAGCCGGATGCCTGT	0.502000													35	305					0	0	0.006999	0	0
EXOC2	55770	broad.mit.edu	37	6	564606	564606	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:564606C>T	ENST00000230449.4	-	15	1741	c.1606G>A	c.(1606-1608)Ggc>Agc	p.G536S	EXOC2_ENST00000448181.3_Missense_Mutation_p.G131S	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	536					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		ACCTCCCAGCCTCCGTACTGC	0.562000													26	151					0	0	0.012213	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54109682	54109682	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:54109682C>A	ENST00000548263.1	-	9	1203	c.1155G>T	c.(1153-1155)ctG>ctT	p.L385L	CALCOCO1_ENST00000430117.2_Silent_p.L300L|CALCOCO1_ENST00000550804.1_Silent_p.L385L|CALCOCO1_ENST00000262059.4_Silent_p.L385L			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	385					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CAGCCACTTCCAGGCGGCTGC	0.602000													13	86					3.69857e-22	6.97323e-22	0.008361	1	0
TACC2	10579	broad.mit.edu	37	10	123969979	123969979	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:123969979C>T	ENST00000369005.1	+	9	6379	c.6039C>T	c.(6037-6039)ttC>ttT	p.F2013F	TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369004.3_Silent_p.F91F|TACC2_ENST00000513429.1_Silent_p.F159F|TACC2_ENST00000360561.3_Silent_p.F91F|TACC2_ENST00000334433.3_Silent_p.F2013F|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Silent_p.F1968F|TACC2_ENST00000368999.1_Silent_p.F91F|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515273.1_Silent_p.F2017F|TACC2_ENST00000453444.2_Silent_p.F2017F|TACC2_ENST00000358010.1_Silent_p.F159F|TACC2_ENST00000260733.3_Silent_p.F91F	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2013	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAGTCCCTTCCGTCCCCCGT	0.547000													11	47					0	0	0.002450	0	0
FAM47A	158724	broad.mit.edu	37	X	34149563	34149563	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:34149563G>T	ENST00000346193.3	-	1	884	c.833C>A	c.(832-834)gCt>gAt	p.A278D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	278										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTCACAAGGAGCCCGTGCGTC	0.577000													10	29					4.68919e-08	6.67854e-08	0.008291	1	0
LIF	3976	broad.mit.edu	37	22	30639730	30639730	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:30639730C>A	ENST00000249075.3	-	3	674	c.519G>T	c.(517-519)tcG>tcT	p.S173S	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	173					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CATCCTTACCCGAGGTGTCAG	0.597000													14	83					1.49906e-05	1.87525e-05	0.002450	1	0
XPO6	23214	broad.mit.edu	37	16	28112854	28112854	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:28112854T>C	ENST00000304658.5	-	23	3701	c.3201A>G	c.(3199-3201)ccA>ccG	p.P1067P	XPO6_ENST00000565698.1_Silent_p.P1053P	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	1067					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCAGGAACTCTGGGAGGAAGG	0.542000													4	32					0	0	0.001168	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662521	3662521	+	RNA	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:3662521C>T	ENST00000452079.1	-	0	1365				TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000418088.1_RNA	NR_033711.1																						GAAAGGTGGCCGGTGGAGGCA	0.587000													5	30					0	0	0.001984	0	0
C9orf84	158401	broad.mit.edu	37	9	114454436	114454436	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:114454436A>G	ENST00000394779.3	-	23	3756	c.3512T>C	c.(3511-3513)aTa>aCa	p.I1171T	C9orf84_ENST00000394777.4_Missense_Mutation_p.I1136T|C9orf84_ENST00000318737.4_Missense_Mutation_p.I1210T|C9orf84_ENST00000374287.3_Missense_Mutation_p.I1210T	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1210										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTTGATTCTATATTAATTAG	0.368000													16	105					0	0	0.004007	0	0
TRPS1	7227	broad.mit.edu	37	8	116617216	116617216	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:116617216C>A	ENST00000395715.3	-	4	1557	c.980G>T	c.(979-981)gGa>gTa	p.G327V	TRPS1_ENST00000519076.1_Missense_Mutation_p.G268V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G318V|TRPS1_ENST00000519674.1_Missense_Mutation_p.G314V|TRPS1_ENST00000220888.5_Missense_Mutation_p.G314V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	314					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATGAATGTTCCACCTGAAGT	0.468000									Langer-Giedion syndrome				7	176					1.12685e-05	1.44536e-05	0.004482	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19278006	19278006	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:19278006G>T	ENST00000454498.2	-	7	1990	c.977C>A	c.(976-978)aCc>aAc	p.T326N	CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.T326N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.T326N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.T326N|CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.T326N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	326					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGGATGAAGGTAAAGTTCCT	0.483000													37	284					6.45866e-13	1.07048e-12	0.008740	1	0
DDX20	11218	broad.mit.edu	37	1	112309029	112309029	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:112309029A>T	ENST00000475700.1	+	3	3165	c.807A>T	c.(805-807)tcA>tcT	p.S269S	DDX20_ENST00000369702.4_Silent_p.S661S			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	661					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTACAGCTCAAGAACCTCTT	0.418000													23	150					0	0	0.003330	0	0
LGR5	8549	broad.mit.edu	37	12	71977686	71977686	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:71977686G>T	ENST00000266674.5	+	18	2207	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D	LGR5_ENST00000540815.2_Missense_Mutation_p.E608D|LGR5_ENST00000536515.1_Missense_Mutation_p.E560D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	632						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CCTGGTGGGAGAATGGGGTTG	0.532000													20	160					7.41877e-09	1.10944e-08	0.012319	1	0
TRIM29	23650	broad.mit.edu	37	11	120007970	120007970	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:120007970G>A	ENST00000341846.5	-	1	1191	c.770C>T	c.(769-771)aCc>aTc	p.T257I		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	257					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CACTGTCACGGTGCTATGATT	0.597000													12	68					0	0	0.002450	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33549430	33549430	+	Missense_Mutation	SNP	C	C	G	rs147732973		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:33549430C>G	ENST00000504830.1	-	21	4519	c.4184G>C	c.(4183-4185)cGg>cCg	p.R1395P	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572000										HNSCC(64;0.19)			42	176					0	0	0.011902	0	0
CDH12	1010	broad.mit.edu	37	5	21854832	21854832	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:21854832G>T	ENST00000382254.1	-	7	1680	c.594C>A	c.(592-594)gtC>gtA	p.V198V	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.V198V|CDH12_ENST00000522262.1_Intron	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGCTGTAAACGACTCTGGCAC	0.403000										HNSCC(59;0.17)			13	97					2.32078e-09	3.5431e-09	0.003163	1	0
SCN8A	6334	broad.mit.edu	37	12	52159593	52159593	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:52159593C>G	ENST00000354534.5	+	16	2861	c.2683C>G	c.(2683-2685)Caa>Gaa	p.Q895E	SCN8A_ENST00000545061.1_Missense_Mutation_p.Q895E|SCN8A_ENST00000550891.1_Missense_Mutation_p.Q895E	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	895					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGTGGGGATGCAACTCTTTGG	0.468000													16	157					0	0	0.006122	0	0
USP29	57663	broad.mit.edu	37	19	57641688	57641688	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:57641688C>G	ENST00000254181.4	+	4	2099	c.1645C>G	c.(1645-1647)Ctt>Gtt	p.L549V	USP29_ENST00000598197.1_Missense_Mutation_p.L549V	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	549					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)		CAAACCACCTCTTCCCTTGAG	0.413000													13	221					0	0	0.001855	0	0
FMO1	2326	broad.mit.edu	37	1	171254341	171254341	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:171254341G>T	ENST00000354841.4	+	8	1388	c.1256_splice	c.e8-1	p.W419_splice	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Splice_Site_p.W419_splice|FMO1_ENST00000402921.2_Splice_Site_p.W356_splice			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	419					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)					TTTTATAAAGGTTTGGCTTGT	0.373000													9	159					0.000978159	0.0011097	0.010729	1	0
NRIP1	8204	broad.mit.edu	37	21	16337858	16337858	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr21:16337858C>A	ENST00000400202.1	-	3	3368	c.2656G>T	c.(2656-2658)Gcc>Tcc	p.A886S	NRIP1_ENST00000318948.4_Missense_Mutation_p.A886S|NRIP1_ENST00000400199.1_Missense_Mutation_p.A886S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	886					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ACTTCTGGGGCACTGTGATTG	0.393000													29	335					4.02929e-09	6.10892e-09	0.010818	1	0
SERPINB4	6318	broad.mit.edu	37	18	61306561	61306561	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:61306561G>T	ENST00000341074.5	-	7	741	c.626C>A	c.(625-627)tCt>tAt	p.S209Y	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.S209Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CATCTGTACAGATTTGTATGT	0.358000													8	108					0.00307968	0.00339435	0.003080	1	0
GRM3	2913	broad.mit.edu	37	7	86416287	86416287	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:86416287G>T	ENST00000361669.2	+	3	2278	c.1179G>T	c.(1177-1179)gtG>gtT	p.V393V	GRM3_ENST00000394720.2_Silent_p.V391V|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.V393V|GRM3_ENST00000536043.1_Silent_p.V265V	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	393					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCATGTTTGTGGTGAACGCGG	0.542000													11	169					9.31168e-06	1.20612e-05	0.001855	1	0
WDR63	126820	broad.mit.edu	37	1	85561704	85561704	+	Splice_Site	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:85561704G>C	ENST00000294664.6	+	11	1443		c.e11+1		WDR63_ENST00000326813.8_Splice_Site|WDR63_ENST00000370596.1_Splice_Site	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAATGGGCAGGTACTTAACAG	0.388000													19	196					0	0	0.006122	0	0
STON2	85439	broad.mit.edu	37	14	81744495	81744495	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:81744495T>G	ENST00000555447.1	-	6	1572	c.1160A>C	c.(1159-1161)cAa>cCa	p.Q387P	STON2_ENST00000267540.2_Missense_Mutation_p.Q387P	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	387					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AATTTGGAGTTGTTTGAGTTT	0.458000													5	82					0	0	0.014758	0	0
NAV3	89795	broad.mit.edu	37	12	78400688	78400688	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:78400688G>T	ENST00000397909.2	+	8	1543	c.1370G>T	c.(1369-1371)aGc>aTc	p.S457I	NAV3_ENST00000228327.6_Missense_Mutation_p.S457I|NAV3_ENST00000536525.2_Missense_Mutation_p.S457I|NAV3_ENST00000266692.7_Missense_Mutation_p.S457I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	457						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAATCTCAGCAATAAAAAG	0.403000										HNSCC(70;0.22)			39	138					2.05212e-20	3.81439e-20	0.005524	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458198	45458198	+	RNA	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:45458198C>G	ENST00000548424.1	+	0	448																											AGTCCTGACACTTCAGAGATA	0.458000													12	34					0	0	0.013537	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599984	95599984	+	RNA	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:95599984G>A	ENST00000473204.1	+	0	2065																											CGACGACCAGGGAGGAGGAAT	0.443000													3	17					0	0	0.004672	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216386	20216386	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:20216386C>G	ENST00000331723.1	+	1	800	c.800C>G	c.(799-801)tCt>tGt	p.S267C		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S267F(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGCAGCTTCTCTGTGGATAAG	0.438000													37	346					0	0	0.006999	0	0
CMTR2	55783	broad.mit.edu	37	16	71319117	71319117	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:71319117C>A	ENST00000338099.5	-	3	1043	c.707G>T	c.(706-708)gGg>gTg	p.G236V	FTSJD1_ENST00000434935.2_Missense_Mutation_p.G236V			Q8IYT2	FTSJ1_HUMAN		236						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCAAAACTCCCATCTGCAGT	0.438000													19	123					2.94398e-08	4.25745e-08	0.007413	1	0
SVEP1	79987	broad.mit.edu	37	9	113228273	113228273	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:113228273C>A	ENST00000401783.2	-	18	3530	c.3194G>T	c.(3193-3195)gGa>gTa	p.G1065V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1042V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G1065V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1065					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTCTCAAGTCCACTGTATGA	0.413000													5	28					1.23904e-05	1.56485e-05	0.014758	1	0
WASF1	8936	broad.mit.edu	37	6	110423279	110423279	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:110423279G>T	ENST00000392589.1	-	10	1870	c.1034C>A	c.(1033-1035)aCt>aAt	p.T345N	WASF1_ENST00000359451.2_Missense_Mutation_p.T345N|WASF1_ENST00000392586.1_Missense_Mutation_p.T345N|WASF1_ENST00000392587.2_Missense_Mutation_p.T345N|WASF1_ENST00000392588.1_Missense_Mutation_p.T345N	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	345					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		AGGAGTTGAAGTCATTGAAGC	0.567000													15	268					2.48551e-13	4.1721e-13	0.004990	1	0
NUMA1	4926	broad.mit.edu	37	11	71716300	71716300	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:71716300G>T	ENST00000393695.3	-	23	6139	c.5808C>A	c.(5806-5808)acC>acA	p.T1936T	NUMA1_ENST00000358965.6_Silent_p.T1922T|NUMA1_ENST00000351960.6_Silent_p.T800T	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1936					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGGATAGCAGGTCTTCAGAT	0.617000			T	RARA	APL								4	42					1.23904e-05	1.56485e-05	0.014758	1	0
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	by1000genomes	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:107040564C>T	ENST00000409886.3	-	20	3946	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					intracellular transport		binding	p.E1287K(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTGTTGACTCATCAAAGTGG	0.408000													9	226					0	0	0.008291	0	0
UBR4	23352	broad.mit.edu	37	1	19486759	19486759	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:19486759G>A	ENST00000375267.2	-	39	5426	c.5423C>T	c.(5422-5424)gCt>gTt	p.A1808V	UBR4_ENST00000375217.2_Missense_Mutation_p.A1808V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1808V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1808V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1808					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACGAGAGGAGCGAAGGAGAA	0.413000													5	60					0	0	0.001168	0	0
SFMBT2	57713	broad.mit.edu	37	10	7409776	7409776	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:7409776A>T	ENST00000361972.4	-	4	361	c.271T>A	c.(271-273)Tac>Aac	p.Y91N	SFMBT2_ENST00000379713.3_Missense_Mutation_p.Y91N|SFMBT2_ENST00000397167.1_Missense_Mutation_p.Y91N|SFMBT2_ENST00000397160.3_Missense_Mutation_p.Y91N|SFMBT2_ENST00000379711.2_Missense_Mutation_p.Y91N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	91					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCCACCCAGTACGTGTCCGGG	0.517000													11	39					0	0	0.010729	0	0
LCTL	197021	broad.mit.edu	37	15	66840941	66840941	+	Missense_Mutation	SNP	G	G	A	rs143150424	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:66840941G>A	ENST00000341509.5	-	13	1722	c.1591C>T	c.(1591-1593)Ccc>Tcc	p.P531S	ZWILCH_ENST00000307897.5_3'UTR|LCTL_ENST00000537670.1_Missense_Mutation_p.P358S|ZWILCH_ENST00000446801.2_3'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	531					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTAGCAAGGGCTCTGAAATG	0.433000													5	118					0	0	0.014758	0	0
PCSK5	5125	broad.mit.edu	37	9	78969044	78969044	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:78969044G>T	ENST00000545128.1	+	36	5620	c.5082G>T	c.(5080-5082)gtG>gtT	p.V1694V		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	861					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCAACCTGGTGCTGCACATGG	0.582000													4	22					0.000602214	0.000684382	0.014758	1	0
MARCH10	162333	broad.mit.edu	37	17	60821890	60821890	+	Splice_Site	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:60821890C>G	ENST00000583600.1	-	6	781		c.e6-1		MARCH10_ENST00000311269.5_Splice_Site|MARCH10_ENST00000544856.2_Intron|MARCH10_ENST00000456609.2_Splice_Site			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTTGGTCTGCTGAAAGATGC	0.438000													14	74					0	0	0.003163	0	0
CHD8	57680	broad.mit.edu	37	14	21859724	21859724	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:21859724C>A	ENST00000399982.2	-	35	7027	c.6963G>T	c.(6961-6963)gtG>gtT	p.V2321V	CHD8_ENST00000430710.3_Silent_p.V2042V|CHD8_ENST00000557364.1_Silent_p.V2321V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2321					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAGTACCATCCACCTTATTGA	0.552000													3	38					1.23904e-05	1.56485e-05	0.014758	1	0
YES1	7525	broad.mit.edu	37	18	756705	756705	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:756705T>C	ENST00000584307.1	-	2	293	c.123A>G	c.(121-123)ccA>ccG	p.P41P	YES1_ENST00000577961.1_Silent_p.P46P|YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Silent_p.P41P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	41					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	ATGACGGACATGGTGACACTG	0.458000													32	291					0	0	0.003755	0	0
RBM42	79171	broad.mit.edu	37	19	36122121	36122121	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:36122121G>T	ENST00000262633.4	+	3	467	c.362G>T	c.(361-363)gGc>gTc	p.G121V	RBM42_ENST00000360475.4_Missense_Mutation_p.G121V|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000588161.1_Missense_Mutation_p.G121V|RBM42_ENST00000592202.1_Missense_Mutation_p.G121V|RBM42_ENST00000589559.1_Missense_Mutation_p.G121V|RBM42_ENST00000589871.1_Missense_Mutation_p.G121V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	121						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTTTGTAGGCCCTGGTAAG	0.592000													12	220					2.27111e-07	3.15939e-07	0.013537	1	0
NDUFB5	4711	broad.mit.edu	37	3	179336201	179336201	+	Splice_Site	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:179336201A>T	ENST00000493866.1	+	3	211		c.e3-1		NDUFB5_ENST00000473500.1_Splice_Site|NDUFB5_ENST00000259037.3_Splice_Site|NDUFB5_ENST00000472629.1_Splice_Site	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa						mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	TTTCTCTTGTAGCATCCCATA	0.328000													12	59					0	0	0.002450	0	0
ANO5	203859	broad.mit.edu	37	11	22249096	22249096	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:22249096G>T	ENST00000324559.8	+	7	929	c.612G>T	c.(610-612)caG>caT	p.Q204H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	204						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						TCGAAGATCAGGCAACCTTCT	0.448000													10	254					4.68919e-08	6.67854e-08	0.008291	1	0
ZFAT	57623	broad.mit.edu	37	8	135612705	135612705	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:135612705C>A	ENST00000520727.1	-	8	2712	c.2413G>T	c.(2413-2415)Gca>Tca	p.A805S	ZFAT_ENST00000377838.3_Missense_Mutation_p.A817S|ZFAT_ENST00000520356.1_Missense_Mutation_p.A805S|ZFAT_ENST00000429442.2_Missense_Mutation_p.A805S|ZFAT_ENST00000520214.1_Missense_Mutation_p.A805S|ZFAT_ENST00000523399.1_Missense_Mutation_p.A755S|ZFAT-AS1_ENST00000505776.1_RNA	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTAAGATGTGCCTGTAGCTTA	0.468000													14	182					3.27435e-08	4.71449e-08	0.002450	1	0
BZRAP1	9256	broad.mit.edu	37	17	56385038	56385038	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:56385038C>A	ENST00000355701.3	-	24	5787	c.4917G>T	c.(4915-4917)gtG>gtT	p.V1639V	BZRAP1_ENST00000343736.4_Silent_p.V1639V|BZRAP1_ENST00000268893.6_Silent_p.V1579V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1639	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGACATTGACACGGGGTCAT	0.547000													3	24					0.00909568	0.00981141	0.009096	1	0
ERN2	10595	broad.mit.edu	37	16	23716211	23716211	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:23716211G>T	ENST00000256797.4	-	8	1159	c.991C>A	c.(991-993)Cag>Aag	p.Q331K	ERN2_ENST00000457008.2_Missense_Mutation_p.Q283K	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	283					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TACAGCAGCTGGGTGTCCAAG	0.637000													9	59					0.000274275	0.000316619	0.004482	1	0
FMO2	2327	broad.mit.edu	37	1	171154916	171154916	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:171154916G>T	ENST00000441535.1	+	2	181	c.64G>T	c.(64-66)Gtg>Ttg	p.V22L	FMO2_ENST00000529935.1_Intron|FMO2_ENST00000209929.7_Missense_Mutation_p.V22L|RP1-45C12.1_ENST00000455124.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	22					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGTGCTGTGTGGATGAGGG	0.458000													41	410					4.67007e-22	8.77972e-22	0.008740	1	0
ATM	472	broad.mit.edu	37	11	108196179	108196179	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:108196179A>G	ENST00000278616.4	+	46	7100	c.6715A>G	c.(6715-6717)Atg>Gtg	p.M2239V	ATM_ENST00000452508.2_Missense_Mutation_p.M2239V|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2239	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAAAAGGAAATGGACAACTC	0.418000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	304					0	0	0.002450	0	0
NXF4	55999	broad.mit.edu	37	X	101817730	101817730	+	RNA	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:101817730T>A	ENST00000360035.2	+	0	545					NR_002216.1															endometrium(2)|lung(8)	10						GTAGTTCCACTACAACAAAAA	0.483000													2	2					0	0	0.004672	0	0
PLG	5340	broad.mit.edu	37	6	161157957	161157957	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:161157957C>A	ENST00000308192.9	+	14	1783	c.1720C>A	c.(1720-1722)Ccg>Acg	p.P574T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	574					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAAGTGGAGCCGAAGAAATG	0.512000													7	88					3.09899e-07	4.29291e-07	0.004482	1	0
TMEM176A	55365	broad.mit.edu	37	7	150498728	150498728	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:150498728C>A	ENST00000484928.1	+	2	671	c.90C>A	c.(88-90)gcC>gcA	p.A30A	TMEM176A_ENST00000461345.1_Intron|TMEM176A_ENST00000004103.3_Silent_p.A30A			Q96HP8	T176A_HUMAN	transmembrane protein 176A	30						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCCTGGCCAAGCTCCTGC	0.677000													4	37					0.000602214	0.000684382	0.014758	1	0
MS4A12	54860	broad.mit.edu	37	11	60269496	60269496	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:60269496A>T	ENST00000016913.4	+	4	512	c.455A>T	c.(454-456)gAg>gTg	p.E152V	MS4A12_ENST00000537076.1_Missense_Mutation_p.E106V	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	152						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GCATCCAAGGAGCTTTCCCGT	0.393000													68	422					0	0	0.014410	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249939	140249939	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:140249939G>A	ENST00000398640.2	+	1	1251	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGAACGTGTGGGCCTATG	0.617000													14	92					0	0	0.002450	0	0
MYL12B	103910	broad.mit.edu	37	18	3277806	3277806	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:3277806G>T	ENST00000581193.1	+	4	773	c.390G>T	c.(388-390)atG>atT	p.M130I	MYL12B_ENST00000400175.5_Missense_Mutation_p.M130I|MYL12B_ENST00000237500.5_Missense_Mutation_p.M130I|MYL12B_ENST00000584539.1_Missense_Mutation_p.M130I	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	130	EF-hand 2.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						TGACAACCATGGGGGATCGGT	0.443000													4	75					0.014758	0.0157132	0.014758	1	0
PDE4DIP	9659	broad.mit.edu	37	1	145015970	145015970	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:145015970A>G	ENST00000369359.4	-	3	369	c.331T>C	c.(331-333)Tca>Cca	p.S111P	PDE4DIP_ENST00000493130.2_Missense_Mutation_p.S40P|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S111P|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.S111P|PDE4DIP_ENST00000478649.2_Missense_Mutation_p.S40P|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S40P			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)		CAGATCTGTGACTGCACTGGA	0.428000			T	PDGFRB	MPD								39	799					0	0	0.006230	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61296406	61296406	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:61296406C>T	ENST00000217159.1	+	6	1447	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-93B14.5_ENST00000451648.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|SLCO4A1_ENST00000370507.1_Silent_p.F414F|RP11-93B14.5_ENST00000433126.1_RNA	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	414					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			AGTCCCAGTTCAGCCTGAGTG	0.552000													12	30					0	0	0.001855	0	0
DCLK3	85443	broad.mit.edu	37	3	36779986	36779986	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:36779986C>T	ENST00000416516.2	-	2	655	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	55						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTCGGTCTCCCCACAGCGGT	0.617000													28	135					0	0	0.005443	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23886435	23886435	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:23886435G>A	ENST00000264867.2	-	2	293	c.174C>T	c.(172-174)tgC>tgT	p.C58C	PPARGC1A_ENST00000507380.1_Silent_p.C58C	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	58					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATTGGTCACTGCACCACTTGA	0.398000													23	228					0	0	0.012319	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174229	150174229	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:150174229G>T	ENST00000307271.3	+	5	1933	c.1359G>T	c.(1357-1359)gcG>gcT	p.A453A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	453						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.A453A(1)		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)		GGAAGAGTGCGACCGGGAACT	0.577000													13	204					3.45872e-05	4.22233e-05	0.004007	1	0
RSAD2	91543	broad.mit.edu	37	2	7018220	7018220	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:7018220T>G	ENST00000382040.3	+	1	425	c.289T>G	c.(289-291)Tcc>Gcc	p.S97A		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	97					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGCCAAAACATCCTTTGTGCT	0.502000													9	53					0	0	0.010729	0	0
WNT3A	89780	broad.mit.edu	37	1	228238526	228238526	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:228238526T>A	ENST00000284523.1	+	3	561	c.483T>A	c.(481-483)ttT>ttA	p.F161L	WNT3A_ENST00000366753.2_Missense_Mutation_p.F161L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	161					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				ACATCGAGTTTGGTGGGATGG	0.667000													4	37					0	0	0.001168	0	0
HECTD1	25831	broad.mit.edu	37	14	31576778	31576778	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:31576778G>C	ENST00000399332.1	-	37	7101	c.6613C>G	c.(6613-6615)Cgt>Ggt	p.R2205G	HECTD1_ENST00000553700.1_Missense_Mutation_p.R2205G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2205	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTACGTGACGAGATTCATCA	0.403000													15	82					0	0	0.004990	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262343	43262343	+	Silent	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:43262343G>C	ENST00000255226.6	+	20	3438	c.2622G>C	c.(2620-2622)ctG>ctC	p.L874L	SLC14A2_ENST00000586448.1_Silent_p.L874L|SLC14A2_ENST00000589658.1_Silent_p.L351L|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	874						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGCTCCTGACGACCAATA	0.547000													12	286					0	0	0.001855	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497609	1497609	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:1497609G>T	ENST00000421627.2	+	2	884	c.750G>T	c.(748-750)gcG>gcT	p.A250A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	329					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ACCCCGACGCGCTGCAGAGCC	0.677000													15	143					3.99206e-14	6.80511e-14	0.007413	1	0
BRINP3	339479	broad.mit.edu	37	1	190250819	190250819	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:190250819G>T	ENST00000367462.3	-	3	529	c.298C>A	c.(298-300)Cct>Act	p.P100T	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		100						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGAGGCAGAGGAGAGCCAAGG	0.408000													16	78					1.62849e-17	2.90392e-17	0.004007	1	0
C20orf26	26074	broad.mit.edu	37	20	20269485	20269485	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:20269485T>A	ENST00000245957.5	+	23	3105	c.3029T>A	c.(3028-3030)aTg>aAg	p.M1010K	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	1010										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCAGCAGCTATGCTACATCTC	0.483000													19	55					0	0	0.007413	0	0
OR5P3	120066	broad.mit.edu	37	11	7846763	7846763	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:7846763C>T	ENST00000328375.1	-	1	756	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTAATGGTCCCATAGAACAGA	0.512000													13	101					0	0	0.002450	0	0
C6orf118	168090	broad.mit.edu	37	6	165715670	165715670	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:165715670C>A	ENST00000230301.8	-	2	161	c.141G>T	c.(139-141)cgG>cgT	p.R47R	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	47								p.R47R(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTTCTGAAGCCGATTCAGAA	0.547000													17	105					4.35082e-09	6.58124e-09	0.010504	1	0
CD163L1	283316	broad.mit.edu	37	12	7522158	7522158	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:7522158G>T	ENST00000313599.3	-	15	3891	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	CD163L1_ENST00000416109.2_Silent_p.A1288A|CD163L1_ENST00000396630.1_Silent_p.A1278A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1278	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.A1278A(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTTCCGCCTCGGCCAGGTCCC	0.617000													51	226					2.74206e-54	5.6208e-54	0.014410	1	0
USH2A	7399	broad.mit.edu	37	1	216172398	216172398	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:216172398C>A	ENST00000366943.2	-	34	6874	c.6488G>T	c.(6487-6489)tGg>tTg	p.W2163L	USH2A_ENST00000307340.3_Missense_Mutation_p.W2163L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2163	Fibronectin type-III 8.				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)		TGGTTGTTTCCACCTGGGAAT	0.313000										HNSCC(13;0.011)			24	228					9.80776e-20	1.81278e-19	0.006320	1	0
RP1L1	94137	broad.mit.edu	37	8	10467521	10467521	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:10467521C>T	ENST00000382483.3	-	4	4310	c.4087G>A	c.(4087-4089)Gga>Aga	p.G1363R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1363					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		Ccttctcctcctgtttcttca	0.498000													28	193					0	0	0.004656	0	0
GRM8	2918	broad.mit.edu	37	7	126079199	126079199	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:126079199T>C	ENST00000339582.2	-	11	3509	c.2701A>G	c.(2701-2703)Atc>Gtc	p.I901V	GRM8_ENST00000358373.3_3'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.I901V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	901					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTGTAACTGATATATGTTGTC	0.299000										HNSCC(24;0.065)			17	187					0	0	0.006122	0	0
MYL10	93408	broad.mit.edu	37	7	101266302	101266302	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:101266302G>T	ENST00000223167.4	-	4	501	c.324C>A	c.(322-324)gaC>gaA	p.D108E		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	108	EF-hand 1.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGTCCCTCAAGTCCTCTTTGT	0.627000													5	15					3.59834e-05	4.37653e-05	0.001168	1	0
SATB1	6304	broad.mit.edu	37	3	18390976	18390976	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:18390976G>T	ENST00000338745.6	-	11	3712	c.1978C>A	c.(1978-1980)Cag>Aag	p.Q660K	SATB1_ENST00000454909.2_Missense_Mutation_p.Q660K|SATB1_ENST00000417717.2_Missense_Mutation_p.Q692K|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	660					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGAAACTCTGGAGGATTCCC	0.537000													31	171					3.90053e-15	6.73634e-15	0.012213	1	0
HYOU1	10525	broad.mit.edu	37	11	118926013	118926013	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:118926013C>A	ENST00000404233.3	-	5	427	c.303G>T	c.(301-303)caG>caT	p.Q101H	HYOU1_ENST00000529972.1_Missense_Mutation_p.Q101H|HYOU1_ENST00000543287.1_Missense_Mutation_p.Q14H|HYOU1_ENST00000525859.1_Missense_Mutation_p.Q101H	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	101						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CCAGGAGGTGCTGGAAGTAAC	0.547000													9	192					0.00829132	0.00900278	0.008291	1	0
SUCO	51430	broad.mit.edu	37	1	172558024	172558024	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:172558024C>T	ENST00000367723.3	+	17	2363	c.2239C>T	c.(2239-2241)Ctt>Ttt	p.L747F	SUCO_ENST00000263688.3_Missense_Mutation_p.L595F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TACAGTGACCCTTCTGGGCAG	0.453000													13	78					0	0	0.002450	0	0
COL4A5	1287	broad.mit.edu	37	X	107930917	107930917	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:107930917A>G	ENST00000328300.6	+	49	4765	c.4521A>G	c.(4519-4521)caA>caG	p.Q1507Q	COL4A5_ENST00000361603.2_Silent_p.Q1501Q	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1501	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCACGGTCAAGACTTGGGTG	0.448000									Alport syndrome with Diffuse Leiomyomatosis				22	120					0	0	0.004656	0	0
PTH2R	5746	broad.mit.edu	37	2	209358218	209358218	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:209358218T>A	ENST00000272847.2	+	13	1700	c.1487T>A	c.(1486-1488)gTc>gAc	p.V496D	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	496						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCTGGCTATGTCTGGAGTAAC	0.542000													13	120					0	0	0.002450	0	0
MEGF8	1954	broad.mit.edu	37	19	42839471	42839471	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:42839471G>T	ENST00000334370.4	+	5	1397	c.762G>T	c.(760-762)ctG>ctT	p.L254L	MEGF8_ENST00000251268.6_Silent_p.L254L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	254						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACAATGCCCTGGGTGACCTCG	0.617000													9	72					7.03913e-09	1.05507e-08	0.013537	1	0
MYH13	8735	broad.mit.edu	37	17	10206756	10206756	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:10206756C>T	ENST00000418404.3	-	37	5689	c.5526G>A	c.(5524-5526)aaG>aaA	p.K1842K	MYH13_ENST00000570743.1_Silent_p.K1842K|MYH13_ENST00000252172.4_Silent_p.K1842K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1842					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						TGTGGGCTCCCTTCAGGGCTT	0.507000													32	216					0	0	0.008740	0	0
PSG7	5676	broad.mit.edu	37	19	43441197	43441197	+	RNA	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:43441197T>A	ENST00000446844.3	-	0	121				PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GGTTATATGCTGTGTGCAGGG	0.577000													8	214					0	0	0.008291	0	0
KDM5D	8284	broad.mit.edu	37	Y	21894530	21894530	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrY:21894530C>T	ENST00000541639.1	-	9	1319	c.1032G>A	c.(1030-1032)ttG>ttA	p.L344L	KDM5D_ENST00000382806.2_Silent_p.L287L|KDM5D_ENST00000317961.4_Silent_p.L344L	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	344					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GGGGTGGTAACAAGCAGAAGA	0.443000													10	31					0	0	0.008291	0	0
SLC12A9	56996	broad.mit.edu	37	7	100451908	100451908	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:100451908G>T	ENST00000354161.3	+	2	214	c.89G>T	c.(88-90)gGa>gTa	p.G30V	SLC12A9_ENST00000540482.1_Missense_Mutation_p.G30V|SLC12A9_ENST00000428758.1_Missense_Mutation_p.G30V|SLC12A9_ENST00000415287.1_Missense_Mutation_p.G30V|SLC12A9_ENST00000275729.3_Missense_Mutation_p.G30V	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	30						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGGTCCTGGAGGGGCGTCT	0.642000													6	17					0.00116845	0.0013233	0.001168	1	0
WNT7A	7476	broad.mit.edu	37	3	13916571	13916571	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:13916571G>T	ENST00000285018.4	-	2	475	c.171C>A	c.(169-171)gaC>gaA	p.D57E	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	57					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGATGATGGCGTCGGGCCGGC	0.602000													12	74					1.49906e-05	1.87525e-05	0.002450	1	0
SLC17A6	57084	broad.mit.edu	37	11	22399127	22399127	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:22399127C>A	ENST00000263160.3	+	12	2027	c.1590C>A	c.(1588-1590)gaC>gaA	p.D530E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	530					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						AAACAGGGGACATTACTCAAA	0.428000													13	106					1.5842e-08	2.32161e-08	0.001855	1	0
ANKMY1	51281	broad.mit.edu	37	2	241448843	241448843	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:241448843T>C	ENST00000391987.1	-	12	2415	c.2049A>G	c.(2047-2049)ctA>ctG	p.L683L	ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Silent_p.L444L|ANKMY1_ENST00000272972.3_Silent_p.L683L|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.L772L|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Silent_p.L453L			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	683							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTCCGTGGGATAGAAGGAGCC	0.557000													4	22					0	0	0.014758	0	0
OR4C11	219429	broad.mit.edu	37	11	55371502	55371502	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55371502C>A	ENST00000302231.4	-	1	372	c.348G>T	c.(346-348)atG>atT	p.M116I		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GATCAACAGCCATGAGAATGA	0.448000													10	164					0.000442599	0.000508255	0.006214	1	0
MFF	56947	broad.mit.edu	37	2	228212018	228212018	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:228212018G>T	ENST00000353339.3	+	8	1111	c.670G>T	c.(670-672)Gct>Tct	p.A224S	MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.A224S|MFF_ENST00000524634.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Missense_Mutation_p.A173S	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	224						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TCTTTCCTCTGCTCGTGGCAT	0.498000													14	217					3.35478e-16	5.90225e-16	0.003163	1	0
TMTC4	84899	broad.mit.edu	37	13	101316583	101316583	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:101316583T>G	ENST00000342624.5	-	4	485	c.227A>C	c.(226-228)cAa>cCa	p.Q76P	TMTC4_ENST00000376234.3_Missense_Mutation_p.Q57P|TMTC4_ENST00000328767.5_Intron	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	57						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTTTCTGCTTGGAGGTCCTG	0.597000													5	36					0	0	0.001984	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128864260	128864260	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:128864260T>A	ENST00000274487.4	+	6	1345	c.1200T>A	c.(1198-1200)ttT>ttA	p.F400L	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAGAGAGTTTTTGTAAGTGGC	0.368000													33	148					0	0	0.013726	0	0
MYF6	4618	broad.mit.edu	37	12	81101521	81101521	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:81101521C>G	ENST00000228641.3	+	1	245	c.23C>G	c.(22-24)aCt>aGt	p.T8S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	8					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CTTTTTGAAACTGGCTCCTAT	0.478000													10	94					0	0	0.008291	0	0
REG3G	130120	broad.mit.edu	37	2	79254992	79254992	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:79254992T>C	ENST00000272324.5	+	5	577	c.393T>C	c.(391-393)ttT>ttC	p.F131F	REG3G_ENST00000409471.1_Silent_p.F85F|REG3G_ENST00000393897.2_Silent_p.F131F	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	131	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGAATTACTTTGCATGGGAGA	0.507000													7	212					0	0	0.004482	0	0
XDH	7498	broad.mit.edu	37	2	31595228	31595228	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:31595228C>A	ENST00000379416.3	-	17	1770	c.1722G>T	c.(1720-1722)gtG>gtT	p.V574V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	574					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)	GGGGCCGGCCCACCATGTCCT	0.632000													32	152					3.76114e-14	6.42812e-14	0.004289	1	0
CHST5	23563	broad.mit.edu	37	16	75563211	75563211	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:75563211C>A	ENST00000336257.3	-	3	2466	c.1072G>T	c.(1072-1074)Gcg>Tcg	p.A358S	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.A364S	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	358					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAGGGCAACGCGTGGCGCCAG	0.647000													4	33					0.00024832	0.000289707	0.009096	1	0
KCNH8	131096	broad.mit.edu	37	3	19384093	19384093	+	Nonsense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:19384093A>T	ENST00000328405.2	+	4	723	c.457A>T	c.(457-459)Aga>Tga	p.R153*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	153						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGTCAAAGGAAGATCAAGAGC	0.443000													17	87					0	0	0.006122	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614791	184614791	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:184614791C>A	ENST00000334690.6	+	21	2489	c.2287C>A	c.(2287-2289)Cct>Act	p.P763T	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.P763T|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.P369T	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	763																	ACATGAACCCCCTGCACTGAC	0.393000													20	235					2.70639e-06	3.54742e-06	0.014323	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83374966	83374966	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:83374966T>A	ENST00000262752.2	-	9	723	c.716A>T	c.(715-717)tAt>tTt	p.Y239F	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Y239F	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	239	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AGGAGCCATATACTCTACTGT	0.363000													5	41					0	0	0.001984	0	0
TPR	7175	broad.mit.edu	37	1	186287681	186287681	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:186287681G>C	ENST00000367478.3	-	48	7015	c.6719C>G	c.(6718-6720)tCt>tGt	p.S2240C		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2240					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CATTGGAACAGATTGAGAGGC	0.393000			T	NTRK1	papillary thyroid								10	121					0	0	0.008291	0	0
ZNF165	7718	broad.mit.edu	37	6	28053456	28053456	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:28053456A>T	ENST00000377325.1	+	2	754	c.198A>T	c.(196-198)gcA>gcT	p.A66A		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	66	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGCGAGGCACTGAGCCGCC	0.547000													10	71					0	0	0.006214	0	0
SLC12A1	6557	broad.mit.edu	37	15	48559802	48559802	+	Silent	SNP	G	G	A	rs150609105	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:48559802G>A	ENST00000396577.3	+	18	2414	c.2199G>A	c.(2197-2199)gcG>gcA	p.A733A	SLC12A1_ENST00000380993.3_Silent_p.A733A|SLC12A1_ENST00000558405.1_Silent_p.A733A	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	733					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGG	0.443000													10	53					0	0	0.008291	0	0
MS4A3	932	broad.mit.edu	37	11	59828682	59828682	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:59828682C>A	ENST00000278865.3	+	2	122	c.49C>A	c.(49-51)Cat>Aat	p.H17N	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000534744.1_Missense_Mutation_p.H17N|MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000358152.2_Missense_Mutation_p.H17N	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	17						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				AGCCTCTGCCCATGGTACCCC	0.483000													36	228					2.6416e-12	4.32381e-12	0.006230	1	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605402	5605402	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrY:5605402C>A	ENST00000215473.6	+	6	3442	c.3442C>A	c.(3442-3444)Ccg>Acg	p.P1148T				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1148					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGCTGGATGCCGGCATCTCT	0.527000													7	39					0.000157383	0.000185256	0.003080	1	0
RBFOX1	54715	broad.mit.edu	37	16	7759057	7759057	+	Splice_Site	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:7759057G>C	ENST00000340209.4	+	12	1307		c.e12-1		RBFOX1_ENST00000355637.4_Splice_Site|RBFOX1_ENST00000535565.2_Splice_Site|RBFOX1_ENST00000547372.1_Splice_Site|RBFOX1_ENST00000550418.1_Splice_Site|RBFOX1_ENST00000436368.2_Splice_Site|RBFOX1_ENST00000553186.1_Splice_Site|RBFOX1_ENST00000311745.5_Splice_Site|RBFOX1_ENST00000547338.1_Splice_Site|RBFOX1_ENST00000422070.4_Splice_Site|RBFOX1_ENST00000552089.1_Splice_Site			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTTCCTTTCAGTTACGGACGA	0.473000													19	235					0	0	0.007413	0	0
PPFIA2	8499	broad.mit.edu	37	12	81693091	81693091	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:81693091C>G	ENST00000550584.2	-	22	3008	c.2713G>C	c.(2713-2715)Gca>Cca	p.A905P	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.A905P|PPFIA2_ENST00000541017.1_Missense_Mutation_p.A122P|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.A831P|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A752P|PPFIA2_ENST00000541570.2_Missense_Mutation_p.A472P|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A806P|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A890P|PPFIA2_ENST00000552948.1_Missense_Mutation_p.A905P|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A890P|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A905P	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	831								p.A905T(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTAGCCATGCGACCACAGTT	0.423000													4	32					0	0	0.014758	0	0
FKBP9	11328	broad.mit.edu	37	7	33014284	33014284	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:33014284G>T	ENST00000242209.4	+	2	446	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.G146W|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	93	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GCTGATCACAGGGATGGACCA	0.453000													14	325					1.99824e-07	2.78568e-07	0.004990	1	0
PSG3	5671	broad.mit.edu	37	19	43233974	43233974	+	Missense_Mutation	SNP	C	C	T	rs151272583		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:43233974C>T	ENST00000327495.5	-	4	1128	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG3_ENST00000595140.1_Missense_Mutation_p.R315Q	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCCACCATATCGGTCCTGTAT	0.483000													25	251					0	0	0.003330	0	0
SYT2	127833	broad.mit.edu	37	1	202568477	202568477	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:202568477G>A	ENST00000367267.1	-	8	1114	c.922C>T	c.(922-924)Ccg>Tcg	p.P308S	SYT2_ENST00000367268.4_Missense_Mutation_p.P308S	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	308	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.P308A(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	TTCACGTACGGGTCTGCGGAG	0.557000													63	278					0	0	0.014410	0	0
PSMD14	10213	broad.mit.edu	37	2	162242061	162242061	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:162242061C>G	ENST00000409682.3	+	8	1253	c.549C>G	c.(547-549)caC>caG	p.H183Q		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						ATCTGGGTCACTTAAACAAGC	0.328000													3	54					0	0	0.004672	0	0
ANXA10	11199	broad.mit.edu	37	4	169049310	169049310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:169049310G>T	ENST00000359299.3	+	2	280	c.94G>T	c.(94-96)Gga>Tga	p.G32*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	32							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGCACTCCAAGGATTTGGTAA	0.378000													9	125					4.84862e-15	8.3518e-15	0.010729	1	0
SEMA4D	10507	broad.mit.edu	37	9	92007407	92007407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:92007407C>A	ENST00000450295.1	-	8	1329	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	SEMA4D_ENST00000343780.4_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000420987.1_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000422704.2_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000455551.2_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000339861.4_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000356444.2_Nonsense_Mutation_p.E185*|SEMA4D_ENST00000438547.2_Nonsense_Mutation_p.E185*			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	185	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						ATGATGGGTTCACTTCCCAAA	0.498000													4	64					1.024e-07	1.44902e-07	0.014758	1	0
XRCC4	7518	broad.mit.edu	37	5	82649012	82649012	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:82649012T>C	ENST00000282268.3	+	8	1131	c.956T>C	c.(955-957)tTa>tCa	p.L319S	XRCC4_ENST00000338635.6_Missense_Mutation_p.L321S|XRCC4_ENST00000396027.4_Missense_Mutation_p.L319S|XRCC4_ENST00000511817.1_Missense_Mutation_p.L321S	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	321					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		AACATGTCTTTAGAAACTCTG	0.338000								Non-homologous end-joining					45	336					0	0	0.013114	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849303	94849303	+	Missense_Mutation	SNP	C	C	A	rs28931568		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:94849303C>A	ENST00000448921.1	-	4	844	c.272G>T	c.(271-273)gGg>gTg	p.G91V	SERPINA1_ENST00000449399.3_Missense_Mutation_p.G91V|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G91V|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G91V|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G91V|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G91V|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G91V|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G91V|SERPINA1_ENST00000393087.4_Missense_Mutation_p.G91V	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	91			G -> E (in M-Mineral springs; causes reduced AAT secretion; dbSNP:rs28931568).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGCCTTGGTCCCCAGGGAGAG	0.552000													17	70					8.34094e-07	1.12236e-06	0.008871	1	0
ENAM	10117	broad.mit.edu	37	4	71510376	71510376	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:71510376G>A	ENST00000396073.3	+	9	3514	c.3233G>A	c.(3232-3234)aGg>aAg	p.R1078K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1078					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGCGATGGAAGGCAAAGCCCA	0.423000													23	226					0	0	0.003330	0	0
RCSD1	92241	broad.mit.edu	37	1	167654682	167654682	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:167654682A>T	ENST00000367854.3	+	3	464	c.133A>T	c.(133-135)Agg>Tgg	p.R45W	RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	45										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					ACCAACCCGAAGGAAACCGCC	0.577000													9	133					0	0	0.004482	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688727	111688727	+	Missense_Mutation	SNP	G	G	A	rs140319291		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:111688727G>A	ENST00000431670.2	+	16	3917	c.3506G>A	c.(3505-3507)cGg>cAg	p.R1169Q	PHLDB2_ENST00000393925.3_Missense_Mutation_p.R1169Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R1126Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R660Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R1126Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R1153Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1169	PH.					cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTTTTGATCGGAACAAGCGA	0.383000													31	249					0	0	0.004289	0	0
GMEB2	26205	broad.mit.edu	37	20	62250696	62250696	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:62250696G>C	ENST00000266068.1	-	1	533	c.55C>G	c.(55-57)Ccg>Gcg	p.P19A	GMEB2_ENST00000370077.1_Missense_Mutation_p.P19A			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	19					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			GCAGTGTCCGGAGTTGTCACA	0.642000													7	25					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9063443	9063443	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:9063443C>A	ENST00000397910.4	-	3	24206	c.24003G>T	c.(24001-24003)gtG>gtT	p.V8001V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8003	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						GGAGTGAAGTCACAGGAAGAG	0.473000													7	92					8.12818e-05	9.63666e-05	0.001984	1	0
TRAF6	7189	broad.mit.edu	37	11	36511491	36511491	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:36511491T>A	ENST00000526995.1	-	7	1712	c.1466A>T	c.(1465-1467)aAg>aTg	p.K489M	TRAF6_ENST00000348124.5_Missense_Mutation_p.K489M	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	489	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGTGTCATCCTTAATGAAAGT	0.488000													22	442					0	0	0.012319	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712208	140712208	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:140712208C>A	ENST00000517417.1	+	1	1957	c.1957C>A	c.(1957-1959)Ccg>Acg	p.P653T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.P653T	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGCCCCCGCTCTCCGC	0.706000													4	19					0.014758	0.0157132	0.014758	1	0
LRRC7	57554	broad.mit.edu	37	1	70446128	70446128	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:70446128T>A	ENST00000310961.5	+	10	1097	c.679T>A	c.(679-681)Tta>Ata	p.L227I	LRRC7_ENST00000035383.5_Missense_Mutation_p.L222I|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	222						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATTACAAGTGTTACCTGGGGT	0.343000													24	292					0	0	0.004656	0	0
POU2F1	5451	broad.mit.edu	37	1	167334748	167334748	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:167334748G>T	ENST00000367862.5	+	3	374	c.139G>T	c.(139-141)Gta>Tta	p.V47L	POU2F1_ENST00000367866.2_Missense_Mutation_p.V58L|POU2F1_ENST00000452019.1_Missense_Mutation_p.V35L|POU2F1_ENST00000541643.3_Missense_Mutation_p.V35L|POU2F1_ENST00000429375.2_Missense_Mutation_p.V58L|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.V35L	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	35					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCCTGTGCCTGTAGGAGGAGC	0.433000													6	95					2.0095e-06	2.6498e-06	0.001984	1	0
SPTBN1	6711	broad.mit.edu	37	2	54852008	54852008	+	Missense_Mutation	SNP	A	A	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:54852008A>C	ENST00000333896.5	+	10	1596	c.1211A>C	c.(1210-1212)cAg>cCg	p.Q404P	SPTBN1_ENST00000356805.4_Missense_Mutation_p.Q417P	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	417					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCATAAGACAGGAGAAACTG	0.493000													19	76					0	0	0.007413	0	0
FLG2	388698	broad.mit.edu	37	1	152326246	152326246	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:152326246G>A	ENST00000388718.5	-	3	4088	c.4016C>T	c.(4015-4017)aCa>aTa	p.T1339I	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1339							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)			TCTTCCAGATGTTCTGGAACC	0.483000													17	279					0	0	0.006122	0	0
OR14C36	127066	broad.mit.edu	37	1	248512233	248512233	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:248512233C>T	ENST00000317861.1	+	1	157	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L53F(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TGACAGCAGCCTTCACATGCC	0.438000													27	279					0	0	0.005443	0	0
RPL30	6156	broad.mit.edu	37	8	99054972	99054972	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:99054972C>A	ENST00000521291.1	-	3	345	c.199G>T	c.(199-201)Gct>Tct	p.A67S	RPL30_ENST00000523172.1_Missense_Mutation_p.A3S|KB-1208A12.3_ENST00000501016.2_RNA|RPL30_ENST00000518164.1_Intron|RPL30_ENST00000396070.2_Intron|RPL30_ENST00000287038.3_Missense_Mutation_p.A67S			P62888	RL30_HUMAN	ribosomal protein L30	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			CCAGTTTTAGCCAACATAGCA	0.403000													5	90					0.00198382	0.00222756	0.001984	1	0
NAA16	79612	broad.mit.edu	37	13	41941683	41941683	+	Silent	SNP	A	A	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:41941683A>C	ENST00000379406.3	+	14	1972	c.1648A>C	c.(1648-1650)Aga>Cga	p.R550R	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	550					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATACTCAGAAGACATGCCTT	0.353000													23	103					0	0	0.016522	0	0
HCN1	348980	broad.mit.edu	37	5	45262453	45262453	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:45262453G>A	ENST00000303230.4	-	8	2300	c.2243C>T	c.(2242-2244)cCa>cTa	p.P748L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	748	Gln-rich.					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						CGgctgctgtggctgagtctg	0.632000													4	20					0	0	0.001984	0	0
OR10T2	128360	broad.mit.edu	37	1	158368632	158368632	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:158368632T>C	ENST00000334438.1	-	1	624	c.625A>G	c.(625-627)Atg>Gtg	p.M209V		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAGGCACCATAATTACCAGG	0.453000													7	57					0	0	0.001984	0	0
RCOR2	283248	broad.mit.edu	37	11	63681923	63681923	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:63681923G>A	ENST00000301459.4	-	6	958	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D187_L193delDRQARRL(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CCCAGCCGCCGGGCCTGTCTG	0.602000													5	15					0	0	0.001984	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510149	120510149	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:120510149C>A	ENST00000256646.2	-	8	1579	c.1360G>T	c.(1360-1362)Gag>Tag	p.E454*		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	454	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTCCATCTCACAACGAGGT	0.493000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				26	185					2.79863e-10	4.38452e-10	0.004656	1	0
MYH8	4626	broad.mit.edu	37	17	10296518	10296518	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:10296518G>T	ENST00000403437.2	-	36	5270	c.5176C>A	c.(5176-5178)Ctc>Atc	p.L1726I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1726					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTGTTAATGAGACTGGTATTC	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	311					1.2476e-16	2.20086e-16	0.006320	1	0
CASD1	64921	broad.mit.edu	37	7	94166868	94166868	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:94166868A>G	ENST00000297273.4	+	9	1215	c.928A>G	c.(928-930)Act>Gct	p.T310A		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	310						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCTCCTGTTACTCTCATACA	0.363000													24	253					0	0	0.003954	0	0
ABCG5	64240	broad.mit.edu	37	2	44047094	44047094	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:44047094G>A	ENST00000543989.1	-	7	2129	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L	ABCG5_ENST00000260645.1_Silent_p.L537L|ABCG5_ENST00000405322.1_Silent_p.L366L			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	537	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAATGGACAGCAGAGCCACT	0.403000													10	380					0	0	0.010729	0	0
PLCL1	5334	broad.mit.edu	37	2	198950309	198950309	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:198950309G>T	ENST00000428675.1	+	2	2466	c.2068G>T	c.(2068-2070)Gga>Tga	p.G690*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.G592*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	690	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G592*(1)|p.G690*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCAAAACGGGGGATGTGGTTA	0.463000													9	313					0.000274275	0.000316619	0.004482	1	0
CEP70	80321	broad.mit.edu	37	3	138289206	138289206	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:138289206T>C	ENST00000264982.3	-	6	685	c.419A>G	c.(418-420)cAa>cGa	p.Q140R	CEP70_ENST00000481834.1_Missense_Mutation_p.Q140R|CEP70_ENST00000484888.1_Missense_Mutation_p.Q140R|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000464035.1_Missense_Mutation_p.Q140R|CEP70_ENST00000542237.1_Missense_Mutation_p.Q120R|CEP70_ENST00000489254.1_Intron	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	140					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTATTCTGTTGGTGGCAAGC	0.343000													21	178					0	0	0.012319	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688944	26688944	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:26688944G>T	ENST00000529632.2	+	2	863	c.667G>T	c.(667-669)Gag>Tag	p.E223*	SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.E223*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.E223*|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.E223*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.E223*	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	223						endoplasmic reticulum membrane|integral to membrane				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						AGAACCCGGGGAGCCTGGGCC	0.647000													15	248					7.21436e-19	1.31863e-18	0.008871	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179834019	179834019	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:179834019T>C	ENST00000553856.1	-	1	292	c.293A>G	c.(292-294)aAa>aGa	p.K98R	TOR1AIP2_ENST00000367612.3_Intron|TOR1AIP2_ENST00000482587.1_5'UTR	NM_022347.3	NP_071742.1																					ATGTATTCTTTTTCTAACCAG	0.433000													25	219					0	0	0.005443	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409657	80409657	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:80409657G>T	ENST00000265080.4	+	15	2455	c.2388G>T	c.(2386-2388)gaG>gaT	p.E796D	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	796					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTTCTCCAGAGCAAAGCCCGG	0.517000													18	119					6.49762e-13	1.07154e-12	0.006122	1	0
SRGAP1	57522	broad.mit.edu	37	12	64488712	64488712	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:64488712G>T	ENST00000355086.3	+	13	2064	c.1539_splice	c.e13-1	p.D514_splice	SRGAP1_ENST00000357825.3_Splice_Site_p.D491_splice|SRGAP1_ENST00000543397.1_Splice_Site_p.D451_splice|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	514	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTTACCCAGGACTCAGGACA	0.363000													74	391					9.1841e-55	1.88848e-54	0.014410	1	0
OR1C1	26188	broad.mit.edu	37	1	247920993	247920993	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:247920993G>T	ENST00000408896.2	-	1	989	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTGCAGGTGGAAACAGCTCT	0.527000													8	61					6.40141e-05	7.68637e-05	0.010729	1	0
CYBB	1536	broad.mit.edu	37	X	37668873	37668873	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:37668873G>T	ENST00000378588.4	+	12	1582	c.1515G>T	c.(1513-1515)ctG>ctT	p.L505L	CYBB_ENST00000536160.1_Silent_p.L238L|CYBB_ENST00000545017.1_Silent_p.L473L|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	505			L -> R (in XCGD).		electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCACAGGCCTGAAACAAAAGA	0.408000													5	20					0.000602214	0.000684382	0.014758	1	0
ANO3	63982	broad.mit.edu	37	11	26463526	26463526	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:26463526C>A	ENST00000256737.3	+	2	960	c.108C>A	c.(106-108)tcC>tcA	p.S36S	ANO3_ENST00000537978.1_Silent_p.S20S|ANO3_ENST00000531646.1_Silent_p.S36S|ANO3_ENST00000525139.1_Silent_p.S20S	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGGAGATCCCTGCCTTGCC	0.438000													56	385					1.48341e-19	2.73413e-19	0.014410	1	0
SRFBP1	153443	broad.mit.edu	37	5	121355925	121355925	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:121355925C>T	ENST00000339397.4	+	6	567	c.495C>T	c.(493-495)atC>atT	p.I165I		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		CAACTGTCATCAGTGAGCAAA	0.343000													15	135					0	0	0.004007	0	0
THSD7A	221981	broad.mit.edu	37	7	11486905	11486905	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:11486905A>G	ENST00000423059.3	-	12	3003	c.2752T>C	c.(2752-2754)Tgc>Cgc	p.C918R	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	918	TSP type-1 9.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTCCATTGCATGAAGAAAAC	0.512000										HNSCC(18;0.044)			21	54					0	0	0.004656	0	0
ZNF648	127665	broad.mit.edu	37	1	182026294	182026294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:182026294G>T	ENST00000339948.3	-	2	1059	c.852C>A	c.(850-852)tgC>tgA	p.C284*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						AGGCCTTCCCGCATAGCTCGC	0.721000													3	16					2.56e-06	3.36224e-06	0.009096	1	0
PCDH7	5099	broad.mit.edu	37	4	31144176	31144176	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:31144176G>A	ENST00000543491.1	+	3	3473	c.3473G>A	c.(3472-3474)tGg>tAg	p.W1158*				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACTCCTGCTGGATGCCGGTC	0.522000													19	201					0	0	0.012319	0	0
CANT1	124583	broad.mit.edu	37	17	76989810	76989810	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:76989810C>T	ENST00000302345.2	-	4	1522	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	CANT1_ENST00000591773.1_Missense_Mutation_p.G343D|CANT1_ENST00000392446.5_Missense_Mutation_p.G343D	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	343					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GGACGAGAAGCCGTGAGTGGG	0.632000			T	ETV4	prostate								3	39					0	0	0.004672	0	0
ALPK2	115701	broad.mit.edu	37	18	56191220	56191220	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:56191220C>G	ENST00000361673.3	-	7	5789	c.5576G>C	c.(5575-5577)tGc>tCc	p.C1859S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1859	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GTTCTTGATGCAGCAGTAATA	0.483000													4	51					0	0	0.001984	0	0
PIWIL4	143689	broad.mit.edu	37	11	94301943	94301943	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:94301943C>T	ENST00000299001.6	+	2	346	c.135C>T	c.(133-135)ggC>ggT	p.G45G	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	45					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTAGCAATGGCTTCTTGGGAA	0.433000													5	111					0	0	0.001984	0	0
GRID2	2895	broad.mit.edu	37	4	94693482	94693482	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:94693482A>T	ENST00000282020.4	+	16	3115	c.2857A>T	c.(2857-2859)Act>Tct	p.T953S	GRID2_ENST00000510992.1_Missense_Mutation_p.T858S	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	953	Interaction with AP4M1 (By similarity).				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)	TTCTGGTTTCACTTTTGGCAA	0.473000													21	144					0	0	0.010504	0	0
WDR49	151790	broad.mit.edu	37	3	167272528	167272528	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:167272528A>T	ENST00000308378.3	-	6	1015	c.710T>A	c.(709-711)gTg>gAg	p.V237E	WDR49_ENST00000453925.2_Missense_Mutation_p.V290E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.V62E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	237										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGAAATATCCACAGCTCCATC	0.368000													22	299					0	0	0.007291	0	0
HFM1	164045	broad.mit.edu	37	1	91816380	91816380	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:91816380A>G	ENST00000370425.3	-	18	2219	c.2121T>C	c.(2119-2121)caT>caC	p.H707H	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000370424.3_Silent_p.H386H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	707	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CCGTGATGGTATGCAGTACTA	0.343000													17	183					0	0	0.010504	0	0
DNAH1	25981	broad.mit.edu	37	3	52360842	52360842	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:52360842C>A	ENST00000420323.2	+	5	934	c.673C>A	c.(673-675)Cac>Aac	p.H225N		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	225	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCACCTGGACCACCAGCACCC	0.577000													5	17					0.000602214	0.000684382	0.014758	1	0
AOAH	313	broad.mit.edu	37	7	36634038	36634038	+	Splice_Site	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:36634038T>A	ENST00000431169.1	-	12	1147		c.e12-2		AOAH_ENST00000535891.1_Splice_Site|AOAH_ENST00000258749.5_Splice_Site|AOAH_ENST00000538464.1_Splice_Site	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GAAAGAGTTCTAAGGAAAACA	0.413000													13	116					0	0	0.001855	0	0
TRBV10-2	28584	broad.mit.edu	37	7	142206931	142206931	+	RNA	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:142206931G>T	ENST00000426318.2	-	0	80																											GCAGACAAAGGGCCACATAGA	0.552000													15	89					2.08468e-23	3.97599e-23	0.012319	1	0
RYR3	6263	broad.mit.edu	37	15	33855076	33855076	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:33855076C>A	ENST00000389232.4	+	11	1081	c.1011C>A	c.(1009-1011)gaC>gaA	p.D337E	RYR3_ENST00000415757.3_Missense_Mutation_p.D337E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	337					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAAGCGAGACATAGAAGGCA	0.408000													7	105					8.12818e-05	9.63666e-05	0.001984	1	0
RBPMS	11030	broad.mit.edu	37	8	30332327	30332327	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:30332327G>T	ENST00000320203.4	+	2	681	c.99G>T	c.(97-99)ctG>ctT	p.L33L	RBPMS_ENST00000397323.4_Silent_p.L33L|RBPMS_ENST00000287771.5_Silent_p.L33L|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.L33L|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000517860.1_Silent_p.L33L|RBPMS_ENST00000538486.1_Silent_p.L33L|RBPMS_ENST00000520161.1_5'UTR	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	33	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		GCCTTCCTCTGGATATCAAAC	0.393000													49	315					1.80625e-27	3.52675e-27	0.014410	1	0
ZNF69	7620	broad.mit.edu	37	19	12014497	12014497	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:12014497G>T	ENST00000429654.2	+	2	313	c.173G>T	c.(172-174)aGg>aTg	p.R58M	ZNF69_ENST00000340180.5_Missense_Mutation_p.R44M			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	58	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		GAAACTTTCAGGAACCTGACC	0.448000													7	139					1.12685e-05	1.44536e-05	0.004482	1	0
SESTD1	91404	broad.mit.edu	37	2	180014052	180014052	+	Missense_Mutation	SNP	C	C	G	rs145174802	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:180014052C>G	ENST00000428443.3	-	7	869	c.553G>C	c.(553-555)Gat>Cat	p.D185H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	185					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTCCTTTATCACTTCCATTG	0.299000													5	29					0	0	0.001168	0	0
TAF1A	9015	broad.mit.edu	37	1	222734835	222734835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:222734835C>A	ENST00000350027.4	-	10	1264	c.1111G>T	c.(1111-1113)Gag>Tag	p.E371*	TAF1A_ENST00000352967.4_Nonsense_Mutation_p.E371*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.E257*|TAF1A_ENST00000391882.1_Nonsense_Mutation_p.E257*	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	371					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		GAGTTCCACTCTTCTTGAACC	0.403000													24	130					1.42536e-11	2.31006e-11	0.004656	1	0
TRPS1	7227	broad.mit.edu	37	8	116631936	116631936	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:116631936G>C	ENST00000395715.3	-	3	966	c.389C>G	c.(388-390)gCt>gGt	p.A130G	TRPS1_ENST00000519076.1_Splice_Site_p.T71_splice|TRPS1_ENST00000520276.1_Missense_Mutation_p.A121G|TRPS1_ENST00000519674.1_Missense_Mutation_p.A117G|TRPS1_ENST00000220888.5_Missense_Mutation_p.A117G	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	117					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCCCCCAGCAGCTGGAGATGA	0.532000									Langer-Giedion syndrome				15	135					0	0	0.003163	0	0
BRINP3	339479	broad.mit.edu	37	1	190203565	190203565	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:190203565C>A	ENST00000367462.3	-	5	892	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	FAM5C_ENST00000534846.1_Missense_Mutation_p.D119Y|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		221						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCTAGGTTGTCATAGTTACTG	0.378000													9	184					2.17888e-05	2.68483e-05	0.006214	1	0
ITK	3702	broad.mit.edu	37	5	156655369	156655369	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:156655369T>A	ENST00000422843.3	+	7	863	c.711T>A	c.(709-711)taT>taA	p.Y237*		NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	237					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAAACCTATGAGTAAGATA	0.313000			T	SYK	peripheral T-cell lymphoma								14	44					0	0	0.002450	0	0
TEAD4	7004	broad.mit.edu	37	12	3129934	3129934	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:3129934G>T	ENST00000359864.2	+	9	908	c.718G>T	c.(718-720)Gac>Tac	p.D240Y	TEAD4_ENST00000397122.2_Missense_Mutation_p.D111Y|TEAD4_ENST00000358409.2_Missense_Mutation_p.D197Y	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	TEA domain family member 4	240					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAGGACCCGGACACGGTAGG	0.662000													5	48					1.26484e-09	1.94911e-09	0.003080	1	0
GREB1	9687	broad.mit.edu	37	2	11716594	11716594	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:11716594G>C	ENST00000381486.2	+	5	870	c.570G>C	c.(568-570)aaG>aaC	p.K190N	GREB1_ENST00000234142.5_Missense_Mutation_p.K190N|GREB1_ENST00000381483.2_Missense_Mutation_p.K190N|GREB1_ENST00000263834.5_Missense_Mutation_p.K190N|GREB1_ENST00000389825.3_Missense_Mutation_p.K80N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	190						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AACACTTGAAGTATTACCTGG	0.458000													15	109					0	0	0.003163	0	0
MXRA5	25878	broad.mit.edu	37	X	3240108	3240108	+	Silent	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:3240108C>G	ENST00000217939.6	-	5	3772	c.3618G>C	c.(3616-3618)gtG>gtC	p.V1206V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1206						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)				CTGTGTTATCCACCCAAGCTG	0.458000													25	62					0	0	0.005443	0	0
CD53	963	broad.mit.edu	37	1	111437624	111437624	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:111437624C>A	ENST00000271324.5	+	5	482	c.370C>A	c.(370-372)Cgt>Agt	p.R124S	CD53_ENST00000497404.1_3'UTR|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	124					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAGCATCCACCGTTACCACTC	0.502000													14	130					1.2644e-06	1.69791e-06	0.010504	1	0
PHACTR1	221692	broad.mit.edu	37	6	13206250	13206250	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:13206250G>T	ENST00000379350.1	+	7	997	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	PHACTR1_ENST00000332995.7_Missense_Mutation_p.G290C|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G145C|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	290						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCTGCAGTACGGCAGCCACGG	0.642000													3	21					0.000602214	0.000684382	0.014758	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801561	185801561	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:185801561T>A	ENST00000302277.6	+	4	2032	c.1438T>A	c.(1438-1440)Tta>Ata	p.L480I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	480						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAGCCAGACTTAAAAGATCT	0.338000													18	360					0	0	0.007413	0	0
MKL2	57496	broad.mit.edu	37	16	14345718	14345718	+	Splice_Site	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:14345718G>A	ENST00000571589.1	+	14	2575		c.e14-1		MKL2_ENST00000318282.5_Splice_Site|MKL2_ENST00000574045.1_Splice_Site|MKL2_ENST00000341243.5_Splice_Site	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2						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						ATTCATTACAGGTTTTCACAA	0.388000													27	207					0	0	0.009535	0	0
COL16A1	1307	broad.mit.edu	37	1	32154676	32154676	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:32154676C>G	ENST00000373672.3	-	24	2147	c.1631G>C	c.(1630-1632)gGc>gCc	p.G544A	COL16A1_ENST00000373668.3_Missense_Mutation_p.G544A|COL16A1_ENST00000271069.6_Missense_Mutation_p.G544A	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	544	Triple-helical region 8 (COL8) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCTTGGATGCCAGGGTCTCC	0.572000													12	145					0	0	0.010729	0	0
TRAV19	28664	broad.mit.edu	37	14	22476150	22476150	+	RNA	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:22476150C>T	ENST00000390447.3	+	0	197																											GTAACTCAAGCGCAGACTGAA	0.408000													3	47					0	0	0.009096	0	0
TOX2	84969	broad.mit.edu	37	20	42694687	42694687	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:42694687G>T	ENST00000358131.5	+	6	1450	c.1242G>T	c.(1240-1242)ctG>ctT	p.L414L	TOX2_ENST00000435864.2_Silent_p.L310L|TOX2_ENST00000341197.3_Silent_p.L432L|TOX2_ENST00000372999.1_Silent_p.L390L|TOX2_ENST00000423191.1_Silent_p.L390L	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	414	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCCCTGTCCTGCCCACCCCCA	0.672000													10	25					2.17888e-05	2.68483e-05	0.006214	1	0
COL6A6	131873	broad.mit.edu	37	3	130293296	130293296	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:130293296G>T	ENST00000358511.6	+	7	3505	c.3474G>T	c.(3472-3474)gtG>gtT	p.V1158V	COL6A6_ENST00000453409.2_Silent_p.V1158V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1158	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AACTGACAGTGCACAACTTCG	0.468000													7	94					0.000157383	0.000185256	0.003080	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215324	140215324	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:140215324C>A	ENST00000525929.1	+	1	1356	c.1356C>A	c.(1354-1356)gcC>gcA	p.A452A	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.A452A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACGCCCCGGCGTTCG	0.677000													5	34					0.000274275	0.000316619	0.004482	1	0
GAST	2520	broad.mit.edu	37	17	39871692	39871692	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:39871692C>A	ENST00000329402.3	+	2	71	c.4C>A	c.(4-6)Cag>Aag	p.Q2K	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	2						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGACGAGATGCAGCGACTGTG	0.592000													25	323					3.28513e-13	5.47244e-13	0.003954	1	0
STK19	8859	broad.mit.edu	37	6	31940267	31940267	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:31940267G>A	ENST00000375331.2	+	2	575	c.409G>A	c.(409-411)Gat>Aat	p.D137N	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.D137N	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	137						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						TGTGGAGTCGGATCCTCTTCG	0.612000													8	36					0	0	0.006214	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954410	75954410	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:75954410G>A	ENST00000274364.6	+	21	2744	c.2447G>A	c.(2446-2448)aGg>aAg	p.R816K	IQGAP2_ENST00000396234.3_Missense_Mutation_p.R312K|IQGAP2_ENST00000379730.3_Missense_Mutation_p.R318K|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R312K	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	816					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCAAGATCAGGGCCAATCAA	0.458000													23	139					0	0	0.014323	0	0
GABRR1	2569	broad.mit.edu	37	6	89907909	89907909	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:89907909A>G	ENST00000435811.1	-	4	805	c.351T>C	c.(349-351)tcT>tcC	p.S117S	GABRR1_ENST00000369451.3_Silent_p.S47S|GABRR1_ENST00000454853.2_Silent_p.S134S	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	134					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)	TGCTTGGAAAAGACAGCCTCT	0.542000													44	503					0	0	0.014410	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4968083	4968083	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrY:4968083A>T	ENST00000333703.4	+	5	2944	c.2431A>T	c.(2431-2433)Att>Ttt	p.I811F	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.I822F|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.I822F	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	822	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCGCAAAAGCATTGAAGCACC	0.448000													13	77					0	0	0.013537	0	0
TG	7038	broad.mit.edu	37	8	133953640	133953640	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:133953640G>A	ENST00000220616.4	+	26	5126	c.5086G>A	c.(5086-5088)Ggt>Agt	p.G1696S	TG_ENST00000377869.1_Missense_Mutation_p.G1639S|TG_ENST00000542445.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1696					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGAACCCACTGGTTTCCAAAA	0.468000													39	432					0	0	0.009718	0	0
PSG3	5671	broad.mit.edu	37	19	43233937	43233937	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:43233937A>T	ENST00000327495.5	-	4	1165	c.981T>A	c.(979-981)aaT>aaA	p.N327K	PSG3_ENST00000595140.1_Missense_Mutation_p.N327K	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	327	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CACAGAGGACATTCAGGGTGA	0.493000													10	146					0	0	0.003163	0	0
COL19A1	1310	broad.mit.edu	37	6	70847591	70847591	+	Silent	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:70847591A>T	ENST00000322773.4	+	19	1500	c.1398A>T	c.(1396-1398)ctA>ctT	p.L466L	COL19A1_ENST00000393344.1_Silent_p.L88L	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	466	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.L466L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAACTGGACTACCAGGATTTC	0.403000													38	357					0	0	0.013114	0	0
CCDC36	339834	broad.mit.edu	37	3	49282171	49282171	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:49282171G>T	ENST00000366429.2	+	5	567	c.488G>T	c.(487-489)aGt>aTt	p.S163I	CCDC36_ENST00000438782.1_Intron|CCDC36_ENST00000452691.2_Intron|CCDC36_ENST00000296449.5_Intron|CCDC36_ENST00000451634.2_Missense_Mutation_p.S153I			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	0										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGACATGTGAGTGCCTCATGT	0.473000													11	80					0.00010058	0.000119032	0.013537	1	0
LARP1	23367	broad.mit.edu	37	5	154183274	154183274	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:154183274T>A	ENST00000336314.4	+	13	2201	c.2177T>A	c.(2176-2178)gTg>gAg	p.V726E		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	803							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTTACCCAGTGGTGAAAGAA	0.547000													6	65					0	0	0.001168	0	0
ELTD1	64123	broad.mit.edu	37	1	79383345	79383345	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:79383345T>C	ENST00000370742.3	-	12	1786	c.1723A>G	c.(1723-1725)Ata>Gta	p.I575V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GCTGGTCCTATAAAACTCCAA	0.284000													6	32					0	0	0.001168	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468722	35468722	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr21:35468722A>T	ENST00000381151.3	+	2	1737	c.1225A>T	c.(1225-1227)Att>Ttt	p.I409F	MRPS6_ENST00000399312.2_Intron	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	409						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGAGTTAATGATTGTGGGGAG	0.463000													7	103					0	0	0.003080	0	0
GLYAT	10249	broad.mit.edu	37	11	58477334	58477334	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:58477334C>A	ENST00000344743.3	-	6	937	c.796G>T	c.(796-798)Gac>Tac	p.D266Y	GLYAT_ENST00000529732.1_Missense_Mutation_p.D266Y	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	266					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TTGCTGTAGTCTACATGAGAA	0.478000													12	92					1.5842e-08	2.32161e-08	0.001855	1	0
PRAME	23532	broad.mit.edu	37	22	22892503	22892503	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:22892503T>A	ENST00000543184.1	-	4	1460	c.598A>T	c.(598-600)Aag>Tag	p.K200*	PRAME_ENST00000398743.2_Nonsense_Mutation_p.K200*|PRAME_ENST00000405655.3_Nonsense_Mutation_p.K200*|PRAME_ENST00000402697.1_Nonsense_Mutation_p.K200*|PRAME_ENST00000539862.1_Nonsense_Mutation_p.K184*|PRAME_ENST00000424204.2_Nonsense_Mutation_p.K184*|PRAME_ENST00000398741.1_Nonsense_Mutation_p.K200*	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	200					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TTCTTTCGCTTCACTTTCTCA	0.463000													13	94					0	0	0.001855	0	0
SETX	23064	broad.mit.edu	37	9	135140162	135140162	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:135140162C>A	ENST00000372169.2	-	27	7767	c.7585G>T	c.(7585-7587)Gcc>Tcc	p.A2529S	SETX_ENST00000477049.1_5'UTR|SETX_ENST00000224140.5_Missense_Mutation_p.A2500S|SETX_ENST00000393220.1_Missense_Mutation_p.A2467S			Q7Z333	SETX_HUMAN	senataxin	2500					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GATGTCTTGGCAAATCCACTG	0.522000													14	174					1.3612e-06	1.80944e-06	0.003163	1	0
PCDH9	5101	broad.mit.edu	37	13	67477676	67477676	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:67477676G>A	ENST00000544246.1	-	3	3789	c.3098C>T	c.(3097-3099)aCg>aTg	p.T1033M	PCDH9_ENST00000456367.1_Intron|PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000377865.2_Missense_Mutation_p.T1033M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1033					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTGGAAACCCGTGGAGCTGGG	0.378000													7	161					0	0	0.004482	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221794	118221794	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:118221794C>A	ENST00000402510.2	-	11	3398	c.3399G>T	c.(3397-3399)caG>caT	p.Q1133H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1133										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGACAGTTGCTGGACTTTAT	0.473000													51	96					1.00221e-16	1.77273e-16	0.014410	1	0
WSB1	26118	broad.mit.edu	37	17	25633913	25633913	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:25633913G>T	ENST00000581185.1	+	5	998	c.716G>T	c.(715-717)cGt>cTt	p.R239L	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000262394.2_Intron|WSB1_ENST00000579733.1_Intron			Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	336					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AAAGCAGTACGTGTCAAAGTT	0.398000													10	53					4.68919e-08	6.67854e-08	0.008291	1	0
RPTN	126638	broad.mit.edu	37	1	152127623	152127623	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:152127623G>T	ENST00000316073.3	-	3	2016	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	651	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						ATCCTCTTCAGGCTCCCATAC	0.498000													31	289					1.30897e-18	2.38588e-18	0.009535	1	0
SLC17A6	57084	broad.mit.edu	37	11	22384370	22384370	+	Splice_Site	SNP	C	C	T	rs144984406		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:22384370C>T	ENST00000263160.3	+	6	1184	c.748_splice	c.e6+1	p.Y249_splice		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	249					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						TTTATGTCTACGGTATGTTAT	0.383000													21	118					0	0	0.008871	0	0
BCO2	83875	broad.mit.edu	37	11	112072759	112072759	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:112072759G>C	ENST00000357685.5	+	8	1175	c.1040G>C	c.(1039-1041)aGa>aCa	p.R347T	BCO2_ENST00000526088.1_Missense_Mutation_p.R313T|BCO2_ENST00000438022.1_Missense_Mutation_p.R313T|BCO2_ENST00000393032.2_Missense_Mutation_p.R313T|BCO2_ENST00000361053.4_Missense_Mutation_p.R274T|BCO2_ENST00000532593.1_Missense_Mutation_p.R242T|BCO2_ENST00000531169.1_Missense_Mutation_p.R313T			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	347					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTTCCAGGGAGATACTACAGC	0.368000													5	133					0	0	0.001984	0	0
CRISP2	7180	broad.mit.edu	37	6	49667532	49667532	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:49667532C>G	ENST00000339139.4	-	6	492	c.256G>C	c.(256-258)Gag>Cag	p.E86Q		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	86						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ttgcggtcctctgGATCACTA	0.343000													11	76					0	0	0.008291	0	0
SPINK7	84651	broad.mit.edu	37	5	147693701	147693701	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:147693701C>A	ENST00000274565.4	+	3	187	c.126C>A	c.(124-126)gcC>gcA	p.A42A	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Silent_p.A16A	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	42	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGGTGGCCATCCCCTGCC	0.473000													58	230					8.81991e-31	1.75332e-30	0.014410	1	0
SCFD2	152579	broad.mit.edu	37	4	54231838	54231838	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:54231838C>T	ENST00000401642.3	-	1	404	c.271G>A	c.(271-273)Gac>Aac	p.D91N	SCFD2_ENST00000388940.4_Missense_Mutation_p.D91N	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	91					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAGATGATGTCCCGTAGGATC	0.602000													3	37					0	0	0.004672	0	0
CPB1	1360	broad.mit.edu	37	3	148563381	148563381	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:148563381G>T	ENST00000491148.1	+	10	1283	c.949G>T	c.(949-951)Gct>Tct	p.A317S	CPB1_ENST00000282957.4_Missense_Mutation_p.A317S			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	317					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTACTCATATGCTTACAAACT	0.383000													21	143					3.28513e-13	5.47244e-13	0.003954	1	0
NEO1	4756	broad.mit.edu	37	15	73566308	73566308	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:73566308G>T	ENST00000339362.5	+	21	3569	c.3122G>T	c.(3121-3123)gGa>gTa	p.G1041V	NEO1_ENST00000558964.1_Missense_Mutation_p.G1041V|NEO1_ENST00000560262.1_Missense_Mutation_p.G1041V|NEO1_ENST00000261908.6_Missense_Mutation_p.G1041V			Q92859	NEO1_HUMAN	neogenin 1	1041	Fibronectin type-III 6.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAGGGCATGGGACCCATGTCT	0.473000													5	84					1.024e-07	1.44902e-07	0.014758	1	0
RASGEF1C	255426	broad.mit.edu	37	5	179555436	179555436	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:179555436C>A	ENST00000393371.2	-	4	909	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A54S|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A205S|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	205	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCTGGGCCAGTGTGTAG	0.622000													10	40					7.03913e-09	1.05507e-08	0.013537	1	0
DOCK9	23348	broad.mit.edu	37	13	99459971	99459971	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:99459971G>T	ENST00000376460.1	-	51	5580	c.5500C>A	c.(5500-5502)Ctg>Atg	p.L1834M	DOCK9_ENST00000339416.2_Missense_Mutation_p.L1821M	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1835	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGAGTACAGTTTAAGGAGT	0.378000													3	57					0.004672	0.0051066	0.004672	1	0
ZNF254	9534	broad.mit.edu	37	19	24309224	24309224	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:24309224G>C	ENST00000357002.4	+	4	537	c.422G>C	c.(421-423)gGa>gCa	p.G141A	ZNF254_ENST00000342944.6_Missense_Mutation_p.G56A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	141					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTTATAATGGACTTAACCAG	0.308000													7	98					0	0	0.006214	0	0
ZBTB49	166793	broad.mit.edu	37	4	4304168	4304168	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:4304168G>T	ENST00000337872.4	+	3	726	c.605G>T	c.(604-606)tGc>tTc	p.C202F	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Missense_Mutation_p.C202F	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GATGGCAGCTGCACAGAACTG	0.448000													15	135					4.7546e-09	7.15911e-09	0.004007	1	0
RYR2	6262	broad.mit.edu	37	1	237756789	237756789	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:237756789T>C	ENST00000366574.2	+	33	4606	c.4289T>C	c.(4288-4290)gTg>gCg	p.V1430A	RYR2_ENST00000360064.6_Missense_Mutation_p.V1428A|RYR2_ENST00000542537.1_Missense_Mutation_p.V1414A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1430	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTACTCAGTGAGAATCTTT	0.403000													15	75					0	0	0.004990	0	0
OR10G8	219869	broad.mit.edu	37	11	123900769	123900769	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:123900769C>A	ENST00000431524.1	+	1	473	c.440C>A	c.(439-441)aCt>aAt	p.T147N		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		GCCACCAGCACTTGGCTCAGT	0.542000													39	320					1.8453e-21	3.44945e-21	0.010771	1	0
KAZN	23254	broad.mit.edu	37	1	15438970	15438970	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:15438970G>C	ENST00000376030.2	+	14	2390	c.2096G>C	c.(2095-2097)aGg>aCg	p.R699T		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	699					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						CCCCCTGGCAGGGCCTCCAGC	0.597000													3	25					0	0	0.014758	0	0
LPHN3	23284	broad.mit.edu	37	4	62778449	62778449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:62778449G>T	ENST00000512091.1	+	12	2629	c.1882G>T	c.(1882-1884)Gag>Tag	p.E628*	LPHN3_ENST00000507164.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000514157.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.E628*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.E696*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.E628*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCAGAAAAGAGAGCGCTCTTG	0.363000													13	77					1.15088e-07	1.61123e-07	0.004007	1	0
ASTN2	23245	broad.mit.edu	37	9	119976740	119976740	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:119976740C>A	ENST00000313400.4	-	3	1012	c.912G>T	c.(910-912)cgG>cgT	p.R304R	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.R304R|ASTN2_ENST00000361209.2_Silent_p.R304R			O75129	ASTN2_HUMAN	astrotactin 2	304						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATGGTTGGCCCGCCTAGGTG	0.592000													17	98					2.94398e-08	4.25745e-08	0.007413	1	0
NAV3	89795	broad.mit.edu	37	12	78515929	78515929	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:78515929C>T	ENST00000397909.2	+	16	4132	c.3959C>T	c.(3958-3960)aCa>aTa	p.T1320I	NAV3_ENST00000228327.6_Missense_Mutation_p.T1320I|NAV3_ENST00000536525.2_Missense_Mutation_p.T1320I|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1320	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GACTTAACTACAGATGTTATA	0.547000										HNSCC(70;0.22)			21	90					0	0	0.016522	0	0
PIK3CG	5294	broad.mit.edu	37	7	106515241	106515241	+	Missense_Mutation	SNP	C	C	A	rs143259740	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:106515241C>A	ENST00000359195.3	+	5	2694	c.2384C>A	c.(2383-2385)gCg>gAg	p.A795E	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A795E|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A795E	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	795					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGCAGGAGCGCTGGCAGTA	0.423000													6	64					0.00307968	0.00339435	0.003080	1	0
DOCK2	1794	broad.mit.edu	37	5	169122864	169122864	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:169122864C>A	ENST00000256935.8	+	10	981	c.901C>A	c.(901-903)Cgg>Agg	p.R301R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	301					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAAATAGTCCGGGTCGGCAA	0.473000													31	203					6.00712e-18	1.0859e-17	0.012213	1	0
PGA3	643834	broad.mit.edu	37	11	60971721	60971721	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:60971721C>A	ENST00000325558.6	+	2	384	c.199C>A	c.(199-201)Ccc>Acc	p.P67T		NM_001079807.1	NP_001073275.1			pepsinogen 3, group I (pepsinogen A)											endometrium(1)|lung(1)|ovary(1)|skin(2)	5						AGATGAACAGCCCCTGGAGAA	0.602000													15	97					5.3912e-06	7.0107e-06	0.006122	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740473	140740473	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:140740473G>T	ENST00000522605.1	+	1	771	c.771G>T	c.(769-771)ccG>ccT	p.P257P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGCCGCCGGGCTTCTTTG	0.537000													9	29					2.17888e-05	2.68483e-05	0.006214	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55062978	55062978	+	RNA	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55062978A>T	ENST00000526016.1	-	0	659					NR_038174.2																						TTTTCTTCAGATCCTCATACA	0.443000													8	138					0	0	0.006214	0	0
M1AP	130951	broad.mit.edu	37	2	74867251	74867251	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:74867251A>G	ENST00000290536.5	-	2	268	c.152T>C	c.(151-153)cTa>cCa	p.L51P	M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L51P|M1AP_ENST00000409585.1_Missense_Mutation_p.L51P	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		GCTGCAGGCTAGAGAGAAGAA	0.517000													14	59					0	0	0.002450	0	0
C17orf64	124773	broad.mit.edu	37	17	58506878	58506878	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:58506878C>A	ENST00000269127.4	+	5	669	c.585C>A	c.(583-585)ccC>ccA	p.P195P		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	195										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			AAGGGAGCCCCCTGCCTGGGC	0.587000													9	58					3.86212e-05	4.6887e-05	0.008291	1	0
COL7A1	1294	broad.mit.edu	37	3	48620455	48620455	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:48620455C>A	ENST00000328333.8	-	43	4616	c.4509G>T	c.(4507-4509)gcG>gcT	p.A1503A	COL7A1_ENST00000454817.1_Silent_p.A1503A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1503	Triple-helical region.				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)		CCCGGGATCCCGCTGGGCCTG	0.622000													6	39					8.12818e-05	9.63666e-05	0.001984	1	0
LHFPL1	340596	broad.mit.edu	37	X	111914413	111914413	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:111914413C>G	ENST00000371968.3	-	2	445	c.206G>C	c.(205-207)cGc>cCc	p.R69P	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69P	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592000													26	132					0	0	0.004656	0	0
C6orf10	10665	broad.mit.edu	37	6	32260791	32260791	+	Silent	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:32260791T>A	ENST00000375015.4	-	26	1856	c.1656A>T	c.(1654-1656)acA>acT	p.T552T	C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000447241.2_Silent_p.T553T|C6orf10_ENST00000375007.4_Silent_p.T551T|C6orf10_ENST00000527965.1_Silent_p.T537T|C6orf10_ENST00000533191.1_Silent_p.T551T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	553	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACTTCCTTCCTGTATTTGCCT	0.358000													32	297					0	0	0.004289	0	0
C7orf25	79020	broad.mit.edu	37	7	42949701	42949701	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:42949701A>T	ENST00000350427.4	-	2	1074	c.799T>A	c.(799-801)Tgc>Agc	p.C267S	C7orf25_ENST00000438029.1_Missense_Mutation_p.C267S|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.C267S|C7orf25_ENST00000431882.2_Missense_Mutation_p.C325S			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	267										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ATAAAGTGGCAGCCTCCATAG	0.428000													13	130					0	0	0.001855	0	0
OR6M1	390261	broad.mit.edu	37	11	123676203	123676203	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:123676203A>G	ENST00000309154.2	-	1	892	c.855T>C	c.(853-855)ttT>ttC	p.F285F		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGCTGTAGATAAAAGGGTTCA	0.453000													51	338					0	0	0.014410	0	0
CELF4	56853	broad.mit.edu	37	18	34850802	34850802	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:34850802C>A	ENST00000420428.2	-	8	1423	c.1028G>T	c.(1027-1029)gGc>gTc	p.G343V	CELF4_ENST00000591282.1_Missense_Mutation_p.G343V|CELF4_ENST00000412753.1_Missense_Mutation_p.G342V|CELF4_ENST00000361795.5_Missense_Mutation_p.G341V|CELF4_ENST00000591287.1_Missense_Mutation_p.G342V|CELF4_ENST00000603232.1_Missense_Mutation_p.G342V|CELF4_ENST00000334919.5_Missense_Mutation_p.G333V|CELF4_ENST00000601019.1_Missense_Mutation_p.G341V|CELF4_ENST00000588597.1_Missense_Mutation_p.G332V	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	343					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGGGGGAGGCCGGTGAAGCC	0.612000													4	44					5.9392e-07	8.07437e-07	0.001168	1	0
BACH1	571	broad.mit.edu	37	21	30699198	30699198	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr21:30699198G>T	ENST00000399921.1	+	3	1296	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F	BACH1_ENST00000286800.3_Missense_Mutation_p.L351F	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	351						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAAAGCCTTTGTCAGGTACAG	0.388000													28	303					8.24728e-16	1.44712e-15	0.004656	1	0
PKHD1	5314	broad.mit.edu	37	6	51889988	51889988	+	Silent	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:51889988T>A	ENST00000371117.3	-	32	4895	c.4620A>T	c.(4618-4620)acA>acT	p.T1540T	PKHD1_ENST00000340994.4_Silent_p.T1540T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1540	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAAGTCTCTTGTCTGGCACA	0.448000													9	102					0	0	0.013537	0	0
DAZL	1618	broad.mit.edu	37	3	16638346	16638346	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:16638346G>A	ENST00000250863.8	-	6	756	c.469C>T	c.(469-471)Cca>Tca	p.P157S	DAZL_ENST00000399444.2_Missense_Mutation_p.P137S	NM_001190811.1	NP_001177740.1	Q92904	DAZL_HUMAN	deleted in azoospermia-like	137					germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TGAAACTGTGGTGGAGGAGGA	0.388000													19	137					0	0	0.006122	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577934	116577934	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:116577934G>A	ENST00000369503.4	+	7	1201	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	357					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTATCTACTTGATTAACCAAA	0.438000													4	68					0	0	0.014758	0	0
CDH7	1005	broad.mit.edu	37	18	63491946	63491946	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:63491946C>T	ENST00000536984.2	+	6	1554	c.860C>T	c.(859-861)gCt>gTt	p.A287V	CDH7_ENST00000323011.3_Missense_Mutation_p.A287V|CDH7_ENST00000397968.2_Missense_Mutation_p.A287V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	287	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATTAAAGCTGCTGATGCAGAT	0.403000													23	186					0	0	0.003954	0	0
CDH18	1016	broad.mit.edu	37	5	19747108	19747108	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:19747108C>G	ENST00000507958.1	-	6	1456	c.466G>C	c.(466-468)Gct>Cct	p.A156P	CDH18_ENST00000511273.1_Missense_Mutation_p.A156P|CDH18_ENST00000274170.4_Missense_Mutation_p.A156P|CDH18_ENST00000382275.1_Missense_Mutation_p.A156P|CDH18_ENST00000502796.1_Missense_Mutation_p.A156P|CDH18_ENST00000506372.1_Missense_Mutation_p.A156P			Q13634	CAD18_HUMAN	cadherin 18, type 2	156	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A156T(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)					AATTTTGGAGCGTTGTCATTG	0.373000													22	109					0	0	0.003954	0	0
ANK2	287	broad.mit.edu	37	4	114276798	114276798	+	Nonsense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:114276798G>T	ENST00000357077.4	+	38	7077	c.7024G>T	c.(7024-7026)Gga>Tga	p.G2342*	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.G2309*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2309					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACACCTACAGGACTGACTGA	0.488000													13	111					3.27435e-08	4.71449e-08	0.002450	1	0
THSD7A	221981	broad.mit.edu	37	7	11632988	11632988	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:11632988C>A	ENST00000423059.3	-	3	1415	c.1164G>T	c.(1162-1164)agG>agT	p.R388S		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	388	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGGTTCGTGTCCTTACACGAG	0.507000										HNSCC(18;0.044)			30	59					2.61193e-14	4.47565e-14	0.009535	1	0
APBB2	323	broad.mit.edu	37	4	40818215	40818215	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:40818215G>A	ENST00000295974.8	-	18	2800	c.2171C>T	c.(2170-2172)cCg>cTg	p.P724L	RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000502841.1_Missense_Mutation_p.P176L|APBB2_ENST00000504305.1_Missense_Mutation_p.P176L|APBB2_ENST00000543538.1_Missense_Mutation_p.P176L|APBB2_ENST00000513140.1_Missense_Mutation_p.P702L|APBB2_ENST00000508593.1_Missense_Mutation_p.P725L|APBB2_ENST00000506352.1_Missense_Mutation_p.P703L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	724	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						ATCTGCTGGCGGTGGAGGTGG	0.443000													62	258					0	0	0.014410	0	0
UBXN7	26043	broad.mit.edu	37	3	196088762	196088762	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:196088762C>T	ENST00000296328.4	-	10	1335	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	UBXN7_ENST00000428095.1_Missense_Mutation_p.D259N|UBXN7_ENST00000535858.1_Missense_Mutation_p.D273N	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	421	UBX.						protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTTTTTCCATCTGGATACCGC	0.403000													21	167					0	0	0.003330	0	0
SVEP1	79987	broad.mit.edu	37	9	113139550	113139550	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:113139550C>A	ENST00000401783.2	-	45	10841		c.e45+1		SVEP1_ENST00000374469.1_Splice_Site|SVEP1_ENST00000297826.5_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGCAACTCACGTTCTTCACA	0.517000													5	93					1.23904e-05	1.56485e-05	0.014758	1	0
NIM1K	167359	broad.mit.edu	37	5	43245925	43245925	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:43245925T>C	ENST00000512796.1	+	2	1547	c.48T>C	c.(46-48)taT>taC	p.Y16Y	NIM1_ENST00000326035.2_Silent_p.Y16Y			Q8IY84	NIM1_HUMAN		16							ATP binding|magnesium ion binding|protein serine/threonine kinase activity										ACCCCCACTATGCCCGGTGGG	0.612000													37	222					0	0	0.007835	0	0
UNC45B	146862	broad.mit.edu	37	17	33475407	33475407	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:33475407T>A	ENST00000268876.5	+	2	222	c.125T>A	c.(124-126)cTg>cAg	p.L42Q	UNC45B_ENST00000394570.2_Missense_Mutation_p.L42Q|UNC45B_ENST00000378449.1_Missense_Mutation_p.L42Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.L42Q|UNC45B_ENST00000591048.1_Missense_Mutation_p.L42Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	42					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AAGGCCCTGCTGGCCACGCTT	0.622000													6	24					0	0	0.001984	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58008761	58008761	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:58008761G>T	ENST00000286494.4	+	10	1381	c.921G>T	c.(919-921)aaG>aaT	p.K307N	ARHGEF25_ENST00000333972.7_Missense_Mutation_p.K346N|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	307	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTTTCTCAAGTATTACAATA	0.512000													7	38					2.17888e-05	2.68483e-05	0.006214	1	0
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:7579377G>A	ENST00000420246.2	-	4	442	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q104*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q104*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q104*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	104	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q104*(12)|p.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TAGCTGCCCTGGTAGGTTTTC	0.632000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			30	144					0	0	0.009535	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768670	31768670	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:31768670C>A	ENST00000240587.4	-	2	2356	c.2029G>T	c.(2029-2031)Ggg>Tgg	p.G677W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	677					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCTTGCACCCATCCCGCGGG	0.647000													4	45					0.00024832	0.000289707	0.009096	1	0
PLA2R1	22925	broad.mit.edu	37	2	160807954	160807954	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:160807954T>C	ENST00000283243.7	-	24	3643	c.3437A>G	c.(3436-3438)aAa>aGa	p.K1146R	PLA2R1_ENST00000392771.1_Missense_Mutation_p.K1146R	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1146	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CAGTTGTGCTTTGTGCATCAG	0.428000													25	248					0	0	0.004656	0	0
VAT1L	57687	broad.mit.edu	37	16	77910358	77910358	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:77910358T>A	ENST00000302536.2	+	5	967	c.814T>A	c.(814-816)Tac>Aac	p.Y272N	VAT1L_ENST00000563850.1_3'UTR	NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	272							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CCTGGGAACCTACATTTTATA	0.468000													55	334					0	0	0.014410	0	0
ATG9B	285973	broad.mit.edu	37	7	150720217	150720217	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:150720217G>C	ENST00000605938.1	-	4	811	c.736C>G	c.(736-738)Cca>Gca	p.P246A	ATG9B_ENST00000605952.1_Missense_Mutation_p.P246A|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.P246A	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	246					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTTACTTGGTTGGTTGGCA	0.522000													11	101					0	0	0.001855	0	0
RAMP3	10268	broad.mit.edu	37	7	45216911	45216911	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:45216911G>A	ENST00000242249.4	+	2	100	c.62G>A	c.(61-63)gGg>gAg	p.G21E	RAMP3_ENST00000481345.1_Missense_Mutation_p.G21E|RAMP3_ENST00000496212.1_Missense_Mutation_p.G21E	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	21					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCTCCAGGTGGGTGTCCCAGA	0.592000													10	25					0	0	0.010729	0	0
UGT2A2	574537	broad.mit.edu	37	4	70504773	70504773	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:70504773G>T	ENST00000457664.2	-	1	585	c.586C>A	c.(586-588)Cca>Aca	p.P196T	UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P397T|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					ACTGGTGCTGGGATTTTCCCA	0.428000													9	64					1.76689e-08	2.57786e-08	0.006214	1	0
ASTN1	460	broad.mit.edu	37	1	176853611	176853611	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:176853611C>T	ENST00000367654.2	-	19	3127	c.3114G>A	c.(3112-3114)acG>acA	p.T1038T	ASTN1_ENST00000361833.2_Silent_p.T1030T|ASTN1_ENST00000424564.2_Silent_p.T1030T|ASTN1_ENST00000367657.3_Silent_p.T1030T			O14525	ASTN1_HUMAN	astrotactin 1	1038	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTCGTGAACCGTGGAGAGTC	0.517000													5	150					0	0	0.003080	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993919	140993919	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:140993919C>A	ENST00000285879.4	+	4	1015	c.729C>A	c.(727-729)tcC>tcA	p.S243S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	243							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCCACTTTACTGA	0.483000										HNSCC(15;0.026)			67	458					5.02462e-34	1.01417e-33	0.014410	1	0
FOXC2	2303	broad.mit.edu	37	16	86602418	86602418	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:86602418C>A	ENST00000320354.4	+	1	1562	c.1477C>A	c.(1477-1479)Ccc>Acc	p.P493T		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	493					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACGCAGCCCCCTACTCCTA	0.647000									Late-onset Hereditary Lymphedema				3	9					0.000602214	0.000684382	0.014758	1	0
SETBP1	26040	broad.mit.edu	37	18	42530885	42530885	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:42530885C>A	ENST00000282030.5	+	4	1876	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	527						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCAAAATTTGCTGCAAAACGA	0.522000									Schinzel-Giedion syndrome				31	256					5.6714e-07	7.74229e-07	0.010818	1	0
MUC7	4589	broad.mit.edu	37	4	71346973	71346973	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:71346973C>T	ENST00000413702.1	+	4	800	c.512C>T	c.(511-513)aCa>aTa	p.T171I	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.T171I|MUC7_ENST00000304887.5_Missense_Mutation_p.T171I	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	171	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCCCACCCACACCTTCTGCA	0.517000													21	294					0	0	0.016522	0	0
GRAP2	9402	broad.mit.edu	37	22	40365465	40365465	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:40365465C>A	ENST00000344138.4	+	7	1004	c.741C>A	c.(739-741)ggC>ggA	p.G247G	GRAP2_ENST00000543252.1_Silent_p.G207G|GRAP2_ENST00000540310.1_Silent_p.G181G|GRAP2_ENST00000544756.1_Silent_p.G175G|GRAP2_ENST00000407075.3_Silent_p.G247G|GRAP2_ENST00000399090.2_Silent_p.G134G	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	247					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTGGCACCGGCTTGGGCAGTG	0.572000													12	82					3.45872e-05	4.22233e-05	0.004007	1	0
MME	4311	broad.mit.edu	37	3	154834521	154834521	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:154834521G>T	ENST00000460393.1	+	6	628	c.508G>T	c.(508-510)Gca>Tca	p.A170S	MME_ENST00000360490.2_Missense_Mutation_p.A170S|MME_ENST00000493237.1_Missense_Mutation_p.A170S|MME_ENST00000462745.1_Missense_Mutation_p.A170S|MME_ENST00000492661.1_Missense_Mutation_p.A170S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	170					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTGGCCAGTAGCAACAGAAAA	0.338000													23	176					2.27525e-19	4.18189e-19	0.003954	1	0
OR5D14	219436	broad.mit.edu	37	11	55563697	55563697	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55563697C>G	ENST00000335605.1	+	1	666	c.666C>G	c.(664-666)ttC>ttG	p.F222L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCTATGTTTTCATTTTTGTGA	0.478000													13	174					0	0	0.002450	0	0
COL14A1	7373	broad.mit.edu	37	8	121309761	121309761	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:121309761G>C	ENST00000297848.3	+	35	4518	c.4248G>C	c.(4246-4248)caG>caC	p.Q1416H	COL14A1_ENST00000247781.3_Missense_Mutation_p.Q1321H|COL14A1_ENST00000309791.4_Missense_Mutation_p.Q1416H	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1416	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCCAGTTACAGATGTTTGATA	0.269000													12	86					0	0	0.013537	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644059	37644059	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:37644059C>A	ENST00000356958.4	-	5	1000	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	ZNF585A_ENST00000355533.2_Missense_Mutation_p.G193C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G193C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G193C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGCTTTGCCACAGTCAGTG	0.438000													43	274					2.47872e-24	4.74128e-24	0.010771	1	0
PLG	5340	broad.mit.edu	37	6	161132127	161132127	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:161132127A>T	ENST00000308192.9	+	4	374	c.311A>T	c.(310-312)aAg>aTg	p.K104M	PLG_ENST00000366924.2_Missense_Mutation_p.K104M|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	104	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAGAGTGCAAGACTGGGAAT	0.453000													9	88					0	0	0.006214	0	0
FAN1	22909	broad.mit.edu	37	15	31198066	31198066	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:31198066G>T	ENST00000362065.4	+	2	1491	c.1200G>T	c.(1198-1200)gaG>gaT	p.E400D	FAN1_ENST00000561594.1_Missense_Mutation_p.E400D|FAN1_ENST00000561607.1_Missense_Mutation_p.E400D|FAN1_ENST00000565466.1_Missense_Mutation_p.E400D	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	400					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ATGAGCAGGAGAAGGGAATTG	0.408000								Direct reversal of damage					5	95					0.014758	0.0157132	0.014758	1	0
KCNH7	90134	broad.mit.edu	37	2	163253407	163253407	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:163253407C>A	ENST00000332142.5	-	11	2555	c.2456G>T	c.(2455-2457)gGa>gTa	p.G819V		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	819					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAGACTTTCCAGGTTTGGC	0.368000													48	183					1.4709e-25	2.84662e-25	0.014410	1	0
HERC4	26091	broad.mit.edu	37	10	69714447	69714447	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:69714447C>T	ENST00000395198.3	-	20	2513	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	HERC4_ENST00000277817.6_Missense_Mutation_p.E646K|HERC4_ENST00000373700.4_Missense_Mutation_p.E748K|HERC4_ENST00000480158.1_5'UTR|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Missense_Mutation_p.E756K	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	756	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						AAGAAAAATTCTTTGCGCACC	0.368000													30	125					0	0	0.008361	0	0
TNN	63923	broad.mit.edu	37	1	175046689	175046689	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:175046689C>T	ENST00000239462.4	+	2	248	c.135C>T	c.(133-135)acC>acT	p.T45T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	45					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCAGCCACACCTACAAGATCG	0.632000													9	51					0	0	0.006214	0	0
OR4D9	390199	broad.mit.edu	37	11	59282816	59282816	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:59282816T>A	ENST00000329328.3	+	1	431	c.431T>A	c.(430-432)cTc>cAc	p.L144H		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCACAGGCCTCATCGTGGCT	0.522000													19	122					0	0	0.016522	0	0
NDST3	9348	broad.mit.edu	37	4	118975786	118975786	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:118975786C>A	ENST00000296499.5	+	2	1124	c.721C>A	c.(721-723)Cca>Aca	p.P241T	NDST3_ENST00000433996.2_Missense_Mutation_p.P241T	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	241	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGTAAAGACCCCAGAAAACCT	0.388000													21	314					2.4624e-09	3.74193e-09	0.008871	1	0
GCK	2645	broad.mit.edu	37	7	44187364	44187364	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:44187364G>T	ENST00000403799.3	-	7	1217	c.748C>A	c.(748-750)Cgc>Agc	p.R250S	GCK_ENST00000437084.1_Missense_Mutation_p.R233S|GCK_ENST00000345378.2_Missense_Mutation_p.R251S|GCK_ENST00000395796.3_Missense_Mutation_p.R249S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	250					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						ACGCACATGCGGCCCTCGTCC	0.647000													4	27					0.00024832	0.000289707	0.009096	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072118	34072118	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:34072118C>A	ENST00000254466.6	-	6	2425	c.2398G>T	c.(2398-2400)Gcc>Tcc	p.A800S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A784S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	800					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGACATAGGCCAGTGGCCTG	0.642000													4	57					1.23904e-05	1.56485e-05	0.014758	1	0
DRD5	1816	broad.mit.edu	37	4	9784075	9784075	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:9784075C>A	ENST00000304374.2	+	1	818	c.422C>A	c.(421-423)gCc>gAc	p.A141D		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	141					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CGCTACTGGGCCATCTCCAGG	0.592000													3	23					1.23904e-05	1.56485e-05	0.014758	1	0
LRRC4C	57689	broad.mit.edu	37	11	40137279	40137279	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:40137279G>T	ENST00000278198.2	-	2	2527	c.564C>A	c.(562-564)atC>atA	p.I188I	LRRC4C_ENST00000530763.1_Silent_p.I188I|LRRC4C_ENST00000528697.1_Silent_p.I188I|LRRC4C_ENST00000527150.1_Silent_p.I188I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	188					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACCTTCTGAGATGTATGAAA	0.438000													9	228					0.00448238	0.00491568	0.004482	1	0
USP32P3	347716	broad.mit.edu	37	17	20320084	20320084	+	RNA	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:20320084G>T	ENST00000583574.2	+	0	333																											TACGAGTTGGGGCTGACCCAG	0.562000													4	41					0.00909568	0.00981141	0.009096	1	0
ITGA11	22801	broad.mit.edu	37	15	68596157	68596157	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:68596157G>A	ENST00000423218.2	-	29	3546	c.3451C>T	c.(3451-3453)Ctg>Ttg	p.L1151L	ITGA11_ENST00000315757.7_Silent_p.L1150L			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1150					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AGGCCCCCCAGGGTGCTGCCT	0.642000													8	106					0	0	0.003080	0	0
F5	2153	broad.mit.edu	37	1	169511451	169511451	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:169511451G>T	ENST00000367796.3	-	13	3093	c.2892C>A	c.(2890-2892)atC>atA	p.I964I	F5_ENST00000367797.3_Silent_p.I959I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	959	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CAGTATCTTGGATTATTTCAT	0.448000													47	412					6.68952e-21	1.24694e-20	0.013114	1	0
FSIP1	161835	broad.mit.edu	37	15	40034009	40034009	+	Nonsense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:40034009T>A	ENST00000350221.3	-	6	861	c.652A>T	c.(652-654)Aaa>Taa	p.K218*	FSIP1_ENST00000559692.1_5'UTR	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	218										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AATATACCTTTATTGAGTTTC	0.328000													5	57					0	0	0.001984	0	0
CASQ1	844	broad.mit.edu	37	1	160160683	160160683	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:160160683C>T	ENST00000368079.3	+	1	399	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	CASQ1_ENST00000368078.3_Missense_Mutation_p.R48C	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	48						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGTGTGGACCGTGTGATCAA	0.552000													7	119					0	0	0.003080	0	0
RGPD4	285190	broad.mit.edu	37	2	108477253	108477253	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:108477253G>T	ENST00000408999.3	+	13	1867	c.1790G>T	c.(1789-1791)cGa>cTa	p.R597L	RGPD4_ENST00000354986.4_Missense_Mutation_p.R597L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	597					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATGATCAACGAGAATACATA	0.323000													11	175					9.31168e-06	1.20612e-05	0.001855	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993918	140993918	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:140993918C>A	ENST00000285879.4	+	4	1014	c.728C>A	c.(727-729)tCc>tAc	p.S243Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	243							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCACTTTACTG	0.483000										HNSCC(15;0.026)			67	460					4.09166e-32	8.20827e-32	0.014410	1	0
LEPREL1	55214	broad.mit.edu	37	3	189681780	189681780	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:189681780C>A	ENST00000319332.5	-	14	2198	c.2001G>T	c.(1999-2001)ctG>ctT	p.L667L	LEPREL1_ENST00000427335.2_Silent_p.L486L	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	667	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGGTGAACCACAGAGCCACAG	0.493000													14	144					1.49906e-05	1.87525e-05	0.002450	1	0
BRINP3	339479	broad.mit.edu	37	1	190250818	190250818	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:190250818G>T	ENST00000367462.3	-	3	530	c.299C>A	c.(298-300)cCt>cAt	p.P100H	RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000534846.1_Intron|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		100						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGAGGCAGAGGAGAGCCAAG	0.403000													16	79					1.62849e-17	2.90392e-17	0.004007	1	0
MKX	283078	broad.mit.edu	37	10	27964308	27964308	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:27964308C>T	ENST00000375790.5	-	7	1341	c.909G>A	c.(907-909)acG>acA	p.T303T	MKX_ENST00000419761.1_Silent_p.T303T			Q8IYA7	MKX_HUMAN	mohawk homeobox	303					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CCTTCCAATACGTGTCATCCT	0.458000													15	207					0	0	0.007413	0	0
OTOGL	283310	broad.mit.edu	37	12	80615944	80615944	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:80615944C>A	ENST00000458043.2	+	6	387	c.381C>A	c.(379-381)ggC>ggA	p.G127G	OTOGL_ENST00000547103.1_Silent_p.G127G	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATTCGATGGCATCTACTATT	0.413000													18	286					6.44725e-10	9.98186e-10	0.014323	1	0
CR1L	1379	broad.mit.edu	37	1	207870881	207870881	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:207870881A>T	ENST00000508064.2	+	6	956	c.896A>T	c.(895-897)gAg>gTg	p.E299V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	299	Sushi 5.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTGCATGCTGAGCGTACCCAA	0.493000													25	262					0	0	0.009535	0	0
ITGAV	3685	broad.mit.edu	37	2	187533538	187533538	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:187533538A>T	ENST00000261023.3	+	25	2757	c.2483A>T	c.(2482-2484)cAg>cTg	p.Q828L	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q792L|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q782L	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	828					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTCCATCTTCAGTGGCCTTAC	0.373000													32	222					0	0	0.010818	0	0
WDR17	116966	broad.mit.edu	37	4	177069408	177069408	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:177069408G>T	ENST00000393643.2	+	13	2071	c.1819G>T	c.(1819-1821)Gac>Tac	p.D607Y	WDR17_ENST00000508596.1_Missense_Mutation_p.D607Y|WDR17_ENST00000280190.4_Missense_Mutation_p.D631Y|WDR17_ENST00000507824.2_Missense_Mutation_p.D614Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	631										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGGCAGCTGGGACTATACTAT	0.413000													20	205					6.44725e-10	9.98186e-10	0.014323	1	0
CD53	963	broad.mit.edu	37	1	111437625	111437625	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:111437625G>C	ENST00000271324.5	+	5	483	c.371G>C	c.(370-372)cGt>cCt	p.R124P	CD53_ENST00000497404.1_3'UTR|CD53_ENST00000429072.2_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	124					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		AGCATCCACCGTTACCACTCA	0.502000													14	123					0	0	0.007413	0	0
FKBP9	11328	broad.mit.edu	37	7	33014285	33014285	+	Missense_Mutation	SNP	G	G	T	rs143841637		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:33014285G>T	ENST00000242209.4	+	2	447	c.278G>T	c.(277-279)gGg>gTg	p.G93V	FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Missense_Mutation_p.G146V|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	93	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGATCACAGGGATGGACCAG	0.453000													13	327					1.15088e-07	1.61123e-07	0.004007	1	0
CYP4F24P	388514	broad.mit.edu	37	19	15880414	15880414	+	RNA	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:15880414C>G	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCTTTAGGATCGCGGTCCTTC	0.562000													11	84					0	0	0.010729	0	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	44					0	0	0.009096	0	0
LPA	4018	broad.mit.edu	37	6	160999728	160999728	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:160999728G>C	ENST00000447678.1	-	28	4418	c.4298C>G	c.(4297-4299)aCc>aGc	p.T1433S	LPA_ENST00000316300.5_Missense_Mutation_p.T1433S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3941	Kringle 13.				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)	GTAGTTCCTGGTCAGGCCACT	0.483000													8	158					0	0	0.008291	0	0
CALCR	799	broad.mit.edu	37	7	93065453	93065453	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:93065453G>A	ENST00000359558.2	-	14	1361	c.1062C>T	c.(1060-1062)gtC>gtT	p.V354V	CALCR_ENST00000421592.1_Silent_p.V336V|CALCR_ENST00000426151.1_Silent_p.V320V|CALCR_ENST00000394441.1_Silent_p.V320V|CALCR_ENST00000360249.4_Silent_p.V336V	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	336					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CAAGCACCCGGACAATGTTGA	0.443000													12	131					0	0	0.001855	0	0
ATG7	10533	broad.mit.edu	37	3	11348421	11348421	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:11348421G>T	ENST00000354449.3	+	4	245	c.220G>T	c.(220-222)Gct>Tct	p.A74S	ATG7_ENST00000446450.2_Missense_Mutation_p.A74S|ATG7_ENST00000354956.5_Missense_Mutation_p.A74S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	74					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ATCTAGGAGTGCTCCCACCCC	0.498000													40	268					5.78141e-17	1.02538e-16	0.013114	1	0
PSG3	5671	broad.mit.edu	37	19	43243222	43243222	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:43243222C>A	ENST00000327495.5	-	2	268	c.84G>T	c.(82-84)tgG>tgT	p.W28C	PSG3_ENST00000595140.1_Missense_Mutation_p.W28C|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	28					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TAGGCAAGTTCCAGAAGTTTA	0.483000													65	338					1.85257e-25	3.57476e-25	0.014410	1	0
C7orf26	79034	broad.mit.edu	37	7	6631360	6631360	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:6631360G>C	ENST00000344417.5	+	2	543	c.276G>C	c.(274-276)caG>caC	p.Q92H	C7orf26_ENST00000359073.5_Missense_Mutation_p.Q73H	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	92										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		CTGTTCGGCAGATTATTTTTT	0.473000													22	149					0	0	0.003330	0	0
OR6X1	390260	broad.mit.edu	37	11	123624624	123624624	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:123624624G>T	ENST00000327930.2	-	1	629	c.603C>A	c.(601-603)acC>acA	p.T201T		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCACAAGGATGGTTGCTATGA	0.448000													13	235					5.01169e-05	6.0731e-05	0.004990	1	0
RUNX1T1	862	broad.mit.edu	37	8	93026929	93026929	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:93026929G>A	ENST00000523629.1	-	4	800	c.346C>T	c.(346-348)Cca>Tca	p.P116S	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P89S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P127S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P79S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P116S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P89S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P79S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.P79S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P79S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	116					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCACAGGCTGGGGGCAGCTGT	0.542000													31	169					0	0	0.008361	0	0
IL36B	27177	broad.mit.edu	37	2	113785566	113785566	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:113785566A>T	ENST00000327407.2	-	5	495	c.388T>A	c.(388-390)Tcc>Acc	p.S130T	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	76					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						GATGTGGTGGAGGTGGCTATG	0.453000													41	220					0	0	0.014410	0	0
FAT3	120114	broad.mit.edu	37	11	92533659	92533659	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:92533659C>A	ENST00000298047.6	+	9	7497	c.7480C>A	c.(7480-7482)Cct>Act	p.P2494T	FAT3_ENST00000525166.1_Missense_Mutation_p.P2344T|FAT3_ENST00000409404.2_Missense_Mutation_p.P2494T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2494	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTGTACAGCCCTGCCTTTTC	0.502000										TCGA Ovarian(4;0.039)			7	55					0.00307968	0.00339435	0.003080	1	0
PSKH2	85481	broad.mit.edu	37	8	87060802	87060802	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:87060802C>A	ENST00000276616.2	-	3	1121	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	349							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ATCCAGGACTCTGAGAGTGGG	0.502000													13	278					2.32078e-09	3.5431e-09	0.003163	1	0
ZNF69	7620	broad.mit.edu	37	19	12014498	12014498	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:12014498G>T	ENST00000429654.2	+	2	314	c.174G>T	c.(172-174)agG>agT	p.R58S	ZNF69_ENST00000340180.5_Missense_Mutation_p.R44S			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	58	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAACTTTCAGGAACCTGACCT	0.443000													8	137					2.17888e-05	2.68483e-05	0.006214	1	0
LAMA2	3908	broad.mit.edu	37	6	129601232	129601232	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:129601232G>C	ENST00000421865.2	+	18	2526	c.2477G>C	c.(2476-2478)cGg>cCg	p.R826P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	826	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATTTAGACCGGAGTCTTGGA	0.443000													6	84					0	0	0.001984	0	0
KIF13B	23303	broad.mit.edu	37	8	28988082	28988082	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:28988082C>A	ENST00000524189.1	-	24	3081	c.3043G>T	c.(3043-3045)Gtc>Ttc	p.V1015F	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1015					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCTGTTGGGACATCCTTTGCA	0.408000													14	105					1.3612e-06	1.80944e-06	0.003163	1	0
ZNF98	148198	broad.mit.edu	37	19	22586189	22586189	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:22586189C>A	ENST00000357774.5	-	2	277	c.157_splice	c.e2+1	p.V52_splice	ZNF98_ENST00000601553.1_Splice_Site_p.V52_splice	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TATCCTCACCCACAAAGACCA	0.363000													14	69					6.49762e-13	1.07154e-12	0.006122	1	0
ASTN2	23245	broad.mit.edu	37	9	119858334	119858334	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:119858334C>A	ENST00000313400.4	-	5	1365	c.1265G>T	c.(1264-1266)cGc>cTc	p.R422L	ASTN2_ENST00000361209.2_Missense_Mutation_p.R371L|ASTN2_ENST00000373996.3_Missense_Mutation_p.R422L|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	422						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTGCTGCGGCGGCGACTGCG	0.498000													16	118					1.96292e-10	3.08996e-10	0.010504	1	0
CD38	952	broad.mit.edu	37	4	15842076	15842076	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:15842076G>T	ENST00000226279.2	+	7	891	c.752_splice	c.e7-1	p.D252_splice		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	252					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CTTCCCCAGAGACTTATGCCA	0.368000													16	258					1.01871e-10	1.61911e-10	0.008871	1	0
CACNG5	27091	broad.mit.edu	37	17	64875163	64875163	+	Silent	SNP	G	G	A	rs144101002		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:64875163G>A	ENST00000533854.1	+	3	507	c.270G>A	c.(268-270)acG>acA	p.T90T	CACNG5_ENST00000307139.3_Silent_p.T90T|CACNG5_ENST00000169565.3_Silent_p.T90T			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	90					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGAGTCCACGGTCAATGTTC	0.532000													9	79					0	0	0.008291	0	0
SCN8A	6334	broad.mit.edu	37	12	52200939	52200939	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:52200939T>A	ENST00000354534.5	+	27	5847	c.5669T>A	c.(5668-5670)cTg>cAg	p.L1890Q	SCN8A_ENST00000545061.1_Missense_Mutation_p.L1849Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1890					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAACCACACTGCGTCGCAAG	0.552000													35	128					0	0	0.011902	0	0
FAM115A	9747	broad.mit.edu	37	7	143573604	143573604	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:143573604C>G	ENST00000479870.1	-	2	306	c.98G>C	c.(97-99)gGa>gCa	p.G33A	FAM115A_ENST00000355951.2_Missense_Mutation_p.G33A|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	33										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGAAGCCTCTCCAATAAGAAG	0.562000													13	132					0	0	0.013537	0	0
USH2A	7399	broad.mit.edu	37	1	216260106	216260106	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:216260106G>A	ENST00000366943.2	-	24	5328	c.4942C>T	c.(4942-4944)Ctg>Ttg	p.L1648L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Silent_p.L1648L|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1648	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AGCCCTCCCAGAAAGACTCCT	0.433000										HNSCC(13;0.011)			10	173					0	0	0.002450	0	0
APOB	338	broad.mit.edu	37	2	21234204	21234204	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:21234204C>A	ENST00000233242.1	-	26	5663	c.5536G>T	c.(5536-5538)Gcc>Tcc	p.A1846S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1846					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)	GCTGATAAGGCAGCAGAAGAG	0.473000													53	296					1.47633e-17	2.64693e-17	0.014410	1	0
SAMD7	344658	broad.mit.edu	37	3	169644499	169644499	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:169644499T>A	ENST00000428432.2	+	6	838	c.449T>A	c.(448-450)cTg>cAg	p.L150Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	150										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCCGGTGACCTGCATTTTCAC	0.592000													9	128					0	0	0.013537	0	0
OTOL1	131149	broad.mit.edu	37	3	161217016	161217016	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:161217016C>T	ENST00000327928.4	+	2	422	c.422C>T	c.(421-423)cCc>cTc	p.P141L		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	141	Collagen-like 1.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GTTGTTGGGCCCCAAGGCCCT	0.428000													5	32					0	0	0.003080	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469966	25469966	+	Missense_Mutation	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:25469966T>C	ENST00000264709.3	-	9	1413	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.Y136C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.Y170C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.Y359C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	359	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			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)					CTGCTTGTTGTACGTGGCCTG	0.597000			"""Mis, F, N, S"""		AML								7	28					0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55566686	55566686	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:55566686C>A	ENST00000373965.2	-	36	5102	c.4708G>T	c.(4708-4710)Gct>Tct	p.A1570S	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1567S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	421					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACAGGGGAAGCAACTTTTAAG	0.463000										HNSCC(58;0.16)			60	233					5.08636e-23	9.64503e-23	0.014410	1	0
PLOD2	5352	broad.mit.edu	37	3	145828089	145828089	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:145828089C>G	ENST00000282903.5	-	4	662	c.485G>C	c.(484-486)cGc>cCc	p.R162P	PLOD2_ENST00000494950.1_Missense_Mutation_p.R107P|PLOD2_ENST00000360060.3_Missense_Mutation_p.R162P	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	162					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R162H(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ATTCAGATAGCGTTTCCCAAT	0.373000													10	256					0	0	0.010729	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280289	39280289	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:39280289G>T	ENST00000394014.1	-	1	130	c.86C>A	c.(85-87)aCc>aAc	p.T29N		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	29	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CCTGCAGCAGGTGGTCTGGCA	0.662000													25	93					1.07121e-22	2.02544e-22	0.006999	1	0
LRP1B	53353	broad.mit.edu	37	2	141083400	141083400	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:141083400C>A	ENST00000389484.3	-	80	13242	c.12271G>T	c.(12271-12273)Gag>Tag	p.E4091*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4091					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)		ATGGAGAGCTCAAAGTCAGCC	0.378000										TSP Lung(27;0.18)			20	158					2.94398e-08	4.25745e-08	0.007413	1	0
ZAN	7455	broad.mit.edu	37	7	100388667	100388667	+	RNA	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:100388667C>A	ENST00000542585.1	+	0	7606				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGCCCTGACCCAGAACCTCA	0.612000													6	32					8.12818e-05	9.63666e-05	0.001984	1	0
USH2A	7399	broad.mit.edu	37	1	216256812	216256812	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:216256812G>T	ENST00000366943.2	-	26	5670	c.5284C>A	c.(5284-5286)Cct>Act	p.P1762T	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.P1762T|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1762	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		AGAAAATCAGGTCCATCTTTG	0.289000										HNSCC(13;0.011)			16	283					1.33834e-09	2.05274e-09	0.007413	1	0
DUT	1854	broad.mit.edu	37	15	48624496	48624496	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr15:48624496C>T	ENST00000331200.3	+	2	405	c.312C>T	c.(310-312)gcC>gcT	p.A104A	DUT_ENST00000559416.1_Silent_p.A19A|DUT_ENST00000559540.1_Silent_p.A16A|DUT_ENST00000559935.1_Silent_p.A19A|DUT_ENST00000558813.1_5'UTR|DUT_ENST00000455976.2_Silent_p.A16A	NM_001025248.1|NM_001025249.1	NP_001020419.1|NP_001020420.1	P33316	DUT_HUMAN	deoxyuridine triphosphatase	104					DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		GTAAGCGGGCCCGGCCTGCGG	0.726000								Modulation of nucleotide pools					4	24					0	0	0.014758	0	0
PADI1	29943	broad.mit.edu	37	1	17555220	17555220	+	Silent	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:17555220G>T	ENST00000375471.4	+	7	845	c.753G>T	c.(751-753)gtG>gtT	p.V251V		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	251					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGTTCTATGTGGAGGGGCTGA	0.597000													20	264					1.33834e-09	2.05274e-09	0.007413	1	0
CHRNA9	55584	broad.mit.edu	37	4	40337915	40337915	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:40337915C>G	ENST00000310169.2	+	2	275	c.136C>G	c.(136-138)Ctt>Gtt	p.L46V		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	46					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TTCTAATGCTCTTCGTCCAGT	0.418000													10	232					0	0	0.003330	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854069	12854069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:12854069G>A	ENST00000332296.7	+	3	396	c.293G>A	c.(292-294)tGg>tAg	p.W98*		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	98										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGGAGGTGGAAACTTCAA	0.512000													27	273					0	0	0.008361	0	0
ZNF676	163223	broad.mit.edu	37	19	22363351	22363351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:22363351C>A	ENST00000397121.2	-	3	1485	c.1168G>T	c.(1168-1170)Gag>Tag	p.E390*		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAGGGCTTCTCTTCAGCATGA	0.408000													11	131					6.40141e-05	7.68637e-05	0.010729	1	0
PTN	5764	broad.mit.edu	37	7	136939605	136939605	+	Splice_Site	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:136939605C>T	ENST00000348225.2	-	2	543		c.e2+1		PTN_ENST00000393083.2_Splice_Site	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin						nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTACTGCTTACCTGGTTTCTC	0.463000													6	67					0	0	0.001168	0	0
SALL1	6299	broad.mit.edu	37	16	51175198	51175198	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:51175198C>A	ENST00000440970.1	-	2	1075	c.644G>T	c.(643-645)gGt>gTt	p.G215V	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G312V|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	312					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)			CTGTTTCACACCACTAATGCT	0.532000													18	168					7.87624e-14	1.33571e-13	0.016522	1	0
STIL	6491	broad.mit.edu	37	1	47765719	47765719	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:47765719C>A	ENST00000360380.3	-	7	922	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	STIL_ENST00000243182.6_Missense_Mutation_p.D187Y|STIL_ENST00000396221.2_Missense_Mutation_p.D187Y|STIL_ENST00000337817.5_Missense_Mutation_p.D187Y|STIL_ENST00000371877.3_Missense_Mutation_p.D187Y			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	187					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CAATGCAAGTCAAATTCCACA	0.443000													19	189					0.000229342	0.000269476	0.012319	1	0
GPR107	57720	broad.mit.edu	37	9	132854594	132854594	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:132854594A>T	ENST00000372406.1	+	9	1304	c.797A>T	c.(796-798)tAc>tTc	p.Y266F	GPR107_ENST00000347136.6_Missense_Mutation_p.Y266F|GPR107_ENST00000372410.3_Missense_Mutation_p.Y266F	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	266						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CCCAAATTATACATCTCAATG	0.388000													22	151					0	0	0.014323	0	0
SPAM1	6677	broad.mit.edu	37	7	123593822	123593822	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:123593822G>T	ENST00000340011.5	+	3	555	c.198G>T	c.(196-198)gaG>gaT	p.E66D	SPAM1_ENST00000223028.7_Missense_Mutation_p.E66D|SPAM1_ENST00000402183.2_Missense_Mutation_p.E66D|SPAM1_ENST00000439500.1_Missense_Mutation_p.E66D|SPAM1_ENST00000460182.1_Missense_Mutation_p.E66D	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	66					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATTTGATGAGCCACTAGATA	0.443000													18	100					2.94398e-08	4.25745e-08	0.007413	1	0
IRX2	153572	broad.mit.edu	37	5	2748676	2748676	+	Silent	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:2748676G>A	ENST00000382611.6	-	3	1394	c.1146C>T	c.(1144-1146)ctC>ctT	p.L382L	IRX2_ENST00000302057.5_Silent_p.L382L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	382						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		ACGTGTAGTAGAGGGGGCGGC	0.731000													12	37					0	0	0.003163	0	0
OR4N5	390437	broad.mit.edu	37	14	20611943	20611943	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:20611943C>A	ENST00000333629.1	+	1	49	c.49C>A	c.(49-51)Ctg>Atg	p.L17M		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCTTCTTGGTCTGACCCAGTC	0.378000													137	495					3.08568e-74	6.36482e-74	0.014410	1	0
FAM47B	170062	broad.mit.edu	37	X	34961677	34961677	+	Silent	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:34961677C>G	ENST00000329357.5	+	1	765	c.729C>G	c.(727-729)cgC>cgG	p.R243R		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAGAGACTCGCGCATCTCATC	0.647000													6	45					0	0	0.003080	0	0
ASTN2	23245	broad.mit.edu	37	9	119977022	119977022	+	Splice_Site	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:119977022C>A	ENST00000313400.4	-	3	731		c.e3-1		ASTN2_ENST00000361477.3_Splice_Site|ASTN2_ENST00000373996.3_Splice_Site|ASTN2_ENST00000361209.2_Splice_Site			O75129	ASTN2_HUMAN	astrotactin 2							integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGAGGCCACCCTGGAGCAGGA	0.617000													12	77					1.5842e-08	2.32161e-08	0.001855	1	0
C17orf98	388381	broad.mit.edu	37	17	36997587	36997587	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:36997587C>A	ENST00000398575.4	-	1	121	c.56G>T	c.(55-57)gGg>gTg	p.G19V		NM_001080465.2	NP_001073934.1	A8MV24	CQ098_HUMAN	chromosome 17 open reading frame 98	19										endometrium(5)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(3)	14						CACAGCCACCCCGTCCAAGAT	0.652000													9	72					4.68919e-08	6.67854e-08	0.008291	1	0
RELN	5649	broad.mit.edu	37	7	103252100	103252100	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:103252100C>A	ENST00000428762.1	-	21	3012	c.2853G>T	c.(2851-2853)gaG>gaT	p.E951D	RELN_ENST00000424685.2_Missense_Mutation_p.E951D|RELN_ENST00000343529.5_Missense_Mutation_p.E951D	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	951					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)		TGGTTGAGTACTCCAGCTTCA	0.463000													7	97					0.00307968	0.00339435	0.003080	1	0
C20orf26	26074	broad.mit.edu	37	20	20144727	20144727	+	Translation_Start_Site	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:20144727T>A	ENST00000377309.2	+	0	1174				C20orf26_ENST00000451767.2_Missense_Mutation_p.Y354N|C20orf26_ENST00000389656.3_De_novo_Start_OutOfFrame|C20orf26_ENST00000377306.1_Missense_Mutation_p.Y354N|C20orf26_ENST00000245957.5_Missense_Mutation_p.Y354N			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26											NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCCACTGGATATGCACAGTA	0.532000													37	141					0	0	0.006999	0	0
ANO2	57101	broad.mit.edu	37	12	6031944	6031944	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:6031944G>A	ENST00000546188.1	-	2	108	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	ANO2_ENST00000356134.5_Missense_Mutation_p.R13C|ANO2_ENST00000327087.8_Missense_Mutation_p.R13C			Q9NQ90	ANO2_HUMAN	anoctamin 2	17						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCAGCCGGCGTGGGGAGCCA	0.617000													7	32					0	0	0.006214	0	0
OR5L2	26338	broad.mit.edu	37	11	55595053	55595053	+	Missense_Mutation	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55595053A>G	ENST00000378397.1	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GTGATGGCCTATGACCGCTTT	0.532000										HNSCC(27;0.073)			70	382					0	0	0.014410	0	0
CNKSR2	22866	broad.mit.edu	37	X	21627541	21627541	+	Missense_Mutation	SNP	A	A	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:21627541A>T	ENST00000425654.2	+	19	2888	c.2408A>T	c.(2407-2409)cAa>cTa	p.Q803L	CNKSR2_ENST00000379510.3_Missense_Mutation_p.Q833L|CNKSR2_ENST00000543067.1_Missense_Mutation_p.Q784L|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Q833L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	833					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAGAGGATGCAAGTGCTAAAT	0.532000													10	69					0	0	0.010729	0	0
ZAN	7455	broad.mit.edu	37	7	100388668	100388668	+	RNA	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:100388668C>T	ENST00000542585.1	+	0	7607				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGCCCTGACCCAGAACCTCAA	0.617000													6	31					0	0	0.001984	0	0
OR5I1	10798	broad.mit.edu	37	11	55703819	55703819	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:55703819G>T	ENST00000301532.3	-	1	57	c.58C>A	c.(58-60)Cca>Aca	p.P20T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGGCGAGTTGGAAAACCTAAT	0.373000													20	141					1.36565e-18	2.48231e-18	0.016522	1	0
TTN	7273	broad.mit.edu	37	2	179595299	179595299	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:179595299C>T	ENST00000589042.1	-	61	18185	c.17961G>A	c.(17959-17961)ggG>ggA	p.G5987G	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G4743G|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G5670G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5670	Ig-like 41.						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)			AAGTGTATGTCCCACTGTCTG	0.413000													7	220					0	0	0.001984	0	0
PROS1	5627	broad.mit.edu	37	3	93605211	93605211	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:93605211G>A	ENST00000394236.3	-	11	1608	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	PROS1_ENST00000407433.1_Missense_Mutation_p.P300L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	431	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACTTTCCGAGGGAATCCTGC	0.373000													49	287					0	0	0.014410	0	0
ERCC6	2074	broad.mit.edu	37	10	50740774	50740774	+	Missense_Mutation	SNP	C	C	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:50740774C>G	ENST00000355832.5	-	2	315	c.237G>C	c.(235-237)caG>caC	p.Q79H	ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.Q79H|PGBD3_ENST00000603152.1_Missense_Mutation_p.Q79H|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.Q79H	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	79					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGCCTGGATCTGATGTCGGT	0.627000								Direct reversal of damage;Nucleotide excision repair (NER)					6	61					0	0	0.001168	0	0
ZNF608	57507	broad.mit.edu	37	5	123983235	123983235	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:123983235C>A	ENST00000306315.5	-	4	3277	c.2842G>T	c.(2842-2844)Gat>Tat	p.D948Y	ZNF608_ENST00000504926.1_Missense_Mutation_p.D521Y	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	948	Ser-rich.					intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GAACCACCATCGTCAGCAGCA	0.493000													13	81					1.37285e-15	2.38348e-15	0.004007	1	0
TNRC6B	23112	broad.mit.edu	37	22	40661743	40661743	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:40661743A>G	ENST00000454349.2	+	5	1720	c.1509A>G	c.(1507-1509)acA>acG	p.T503T	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Silent_p.T503T	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	503					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						ACAAAATGACATCTGGGGTCT	0.488000													5	87					0	0	0.001168	0	0
BMPR1B	658	broad.mit.edu	37	4	96075791	96075791	+	Silent	SNP	C	C	A	rs140430323	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:96075791C>A	ENST00000515059.1	+	13	1759	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	BMPR1B_ENST00000264568.4_Silent_p.A492A|BMPR1B_ENST00000440890.2_Silent_p.A522A|BMPR1B_ENST00000394931.1_Silent_p.A492A	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	492	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AAACACTTGCCAAAATGTCAG	0.473000													10	90					7.48243e-07	1.01305e-06	0.006214	1	0
SLC24A3	57419	broad.mit.edu	37	20	19665861	19665861	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:19665861G>T	ENST00000328041.6	+	12	1377	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	394						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCAGACAGGGGCGTGAATGG	0.542000													23	83					1.66031e-10	2.61986e-10	0.003954	1	0
PTPRB	5787	broad.mit.edu	37	12	70970274	70970274	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:70970274C>T	ENST00000334414.6	-	11	2774	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K	PTPRB_ENST00000550857.1_Silent_p.K602K|PTPRB_ENST00000551525.1_Silent_p.K909K|PTPRB_ENST00000261266.5_Silent_p.K692K|PTPRB_ENST00000550358.1_Intron|PTPRB_ENST00000451516.2_Silent_p.K602K|PTPRB_ENST00000538708.1_Silent_p.K692K	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	692	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTCTGACAGACTTGGCAATGA	0.527000													4	13					0	0	0.009096	0	0
AXDND1	126859	broad.mit.edu	37	1	179364233	179364233	+	Splice_Site	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:179364233G>T	ENST00000367618.3	+	11	1392	c.1004_splice	c.e11-1	p.R335_splice	AXDND1_ENST00000457238.2_Splice_Site_p.R335_splice|AXDND1_ENST00000461179.2_3'UTR	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	335										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TTTATTTCAGGGAACTGTGTC	0.333000													36	298					1.06647e-15	1.86138e-15	0.003755	1	0
USP29	57663	broad.mit.edu	37	19	57641436	57641436	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:57641436C>A	ENST00000254181.4	+	4	1847	c.1393C>A	c.(1393-1395)Ctt>Att	p.L465I	USP29_ENST00000598197.1_Missense_Mutation_p.L465I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	465					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)		AACAAAACCACTTCCTTTGTC	0.378000													7	178					8.12818e-05	9.63666e-05	0.001984	1	0
COL22A1	169044	broad.mit.edu	37	8	139707074	139707074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:139707074C>A	ENST00000303045.6	-	33	3087	c.2641G>T	c.(2641-2643)Gaa>Taa	p.E881*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E881*|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	881	Collagen-like 7.|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)			CTCACCGGTTCCCCAGGCAGG	0.602000										HNSCC(7;0.00092)			18	147					1.10513e-12	1.81794e-12	0.014323	1	0
TPR	7175	broad.mit.edu	37	1	186315294	186315294	+	Silent	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:186315294T>C	ENST00000367478.3	-	23	3365	c.3069A>G	c.(3067-3069)agA>agG	p.R1023R		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1023					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTATGGCTCTTCTTTTATCAT	0.323000			T	NTRK1	papillary thyroid								15	155					0	0	0.004007	0	0
TRPC5	7224	broad.mit.edu	37	X	111195283	111195283	+	Missense_Mutation	SNP	G	G	T	rs143012451	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:111195283G>T	ENST00000262839.2	-	2	1284	c.366C>A	c.(364-366)agC>agA	p.S122R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	122					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTTCTCTCCGCTGGGCCGCC	0.552000													74	144					1.43847e-43	2.93947e-43	0.014410	1	0
RAPGEFL1	51195	broad.mit.edu	37	17	38349661	38349661	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:38349661G>T	ENST00000436615.3	+	14	1728	c.1238G>T	c.(1237-1239)cGg>cTg	p.R413L	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R413L|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R462L|RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.R468L	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	619					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						TACCGGAGCCGGCCCCTTTGT	0.537000													14	70					3.45872e-05	4.22233e-05	0.004007	1	0
LCE3A	353142	broad.mit.edu	37	1	152595480	152595480	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:152595480G>T	ENST00000335674.1	-	1	99	c.100C>A	c.(100-102)Cca>Aca	p.P34T		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	34					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCTTGGGGCACAGCTG	0.652000													11	89					6.40141e-05	7.68637e-05	0.010729	1	0
CFHR3	10878	broad.mit.edu	37	1	196762554	196762554	+	Missense_Mutation	SNP	T	T	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:196762554T>G	ENST00000367425.4	+	6	996	c.904T>G	c.(904-906)Tgt>Ggt	p.C302G	CFHR3_ENST00000391985.3_Missense_Mutation_p.C241G	NM_021023.5	NP_066303.2			complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TGAATTTATGTGTAAATTGGG	0.323000													18	102					0	0	0.008871	0	0
EIF2S3	1968	broad.mit.edu	37	X	24094891	24094891	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:24094891G>T	ENST00000253039.4	+	12	1661	c.1408G>T	c.(1408-1410)Gat>Tat	p.D470Y	RP11-479I1.4_ENST00000457332.1_RNA	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	470						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GCCAACAGTAGATGATGACTG	0.343000													18	53					2.4624e-09	3.74193e-09	0.008871	1	0
JPH1	56704	broad.mit.edu	37	8	75156958	75156958	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:75156958C>A	ENST00000342232.4	-	4	1751	c.1711G>T	c.(1711-1713)Gat>Tat	p.D571Y	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	571					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CTGGATCCATCGCCGTCCTCC	0.557000													18	179					5.35267e-07	7.32236e-07	0.007413	1	0
PHYHD1	254295	broad.mit.edu	37	9	131689416	131689416	+	Missense_Mutation	SNP	G	G	T	rs17481121		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:131689416G>T	ENST00000372592.3	+	4	1066	c.133G>T	c.(133-135)Gtt>Ttt	p.V45F	PHYHD1_ENST00000421063.2_Missense_Mutation_p.V45F|PHYHD1_ENST00000308941.5_Missense_Mutation_p.V45F|PHYHD1_ENST00000353176.5_Missense_Mutation_p.V45F	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						TGAAATGGATGTTCCTCTCCA	0.537000											OREG0019526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	68					8.12818e-05	9.63666e-05	0.001984	1	0
NELL2	4753	broad.mit.edu	37	12	45173531	45173531	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:45173531C>T	ENST00000429094.2	-	5	1025	c.521G>A	c.(520-522)aGg>aAg	p.R174K	NELL2_ENST00000395487.2_Missense_Mutation_p.R173K|NELL2_ENST00000549027.1_Missense_Mutation_p.R173K|NELL2_ENST00000333837.4_Missense_Mutation_p.R197K|NELL2_ENST00000551601.1_Missense_Mutation_p.R173K|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.R224K|NELL2_ENST00000452445.2_Missense_Mutation_p.R174K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	174	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTCTACTACCCTTTCATAAAT	0.378000													30	139					0	0	0.012213	0	0
CTPS2	56474	broad.mit.edu	37	X	16711541	16711541	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:16711541C>A	ENST00000443824.1	-	5	1251	c.508G>T	c.(508-510)Gcg>Tcg	p.A170S	CTPS2_ENST00000380241.3_Missense_Mutation_p.A170S|CTPS2_ENST00000359276.4_Missense_Mutation_p.A170S	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	170					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCTCTTTTCGCCTTAAACTGG	0.433000													29	131					4.40665e-25	8.45356e-25	0.009535	1	0
MRC2	9902	broad.mit.edu	37	17	60744809	60744809	+	Silent	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:60744809C>T	ENST00000303375.5	+	6	1434	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	344	C-type lectin 1.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGTCCTCGGGCGGCTGGCAGA	0.667000													3	32					0	0	0.004672	0	0
OR5P3	120066	broad.mit.edu	37	11	7846762	7846762	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:7846762C>A	ENST00000328375.1	-	1	757	c.758G>T	c.(757-759)gGg>gTg	p.G253V	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTAATGGTCCCATAGAACAG	0.512000													14	102					6.72482e-11	1.07401e-10	0.003163	1	0
UGT2A2	574537	broad.mit.edu	37	4	70504767	70504767	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:70504767G>T	ENST00000457664.2	-	1	591	c.592C>A	c.(592-594)Cca>Aca	p.P198T	UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.P399T|UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000286604.4_Intron	NM_001105677.2	NP_001099147.2																					TAGGAGACTGGTGCTGGGATT	0.423000													7	64					2.0095e-06	2.6498e-06	0.001984	1	0
LARP4	113251	broad.mit.edu	37	12	50867905	50867905	+	Silent	SNP	A	A	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:50867905A>G	ENST00000398473.2	+	15	1903	c.1791A>G	c.(1789-1791)tcA>tcG	p.S597S	LARP4_ENST00000347328.5_Silent_p.S526S|LARP4_ENST00000429001.3_Silent_p.S603S|LARP4_ENST00000293618.8_Silent_p.S526S|LARP4_ENST00000518444.1_Silent_p.S596S	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	597							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTACTGCTTCACCATGTAATA	0.348000													24	123					0	0	0.007291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858108	9858108	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr16:9858108C>A	ENST00000396573.2	-	14	3602	c.3293G>T	c.(3292-3294)tGt>tTt	p.C1098F	GRIN2A_ENST00000396575.2_Missense_Mutation_p.C1098F|GRIN2A_ENST00000535259.1_Missense_Mutation_p.C941F|GRIN2A_ENST00000562109.1_Missense_Mutation_p.C1098F|GRIN2A_ENST00000330684.3_Missense_Mutation_p.C1098F|GRIN2A_ENST00000404927.2_Missense_Mutation_p.C1098F	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1098					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACCTCACTACAGTCCTTGGG	0.483000													14	351					0.00400662	0.00440863	0.004007	1	0
DLEC1	9940	broad.mit.edu	37	3	38158563	38158563	+	Missense_Mutation	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:38158563C>A	ENST00000308059.6	+	30	4298	c.4277C>A	c.(4276-4278)gCc>gAc	p.A1426D	DLEC1_ENST00000346219.3_Missense_Mutation_p.A1426D|DLEC1_ENST00000452631.2_Missense_Mutation_p.A1429D			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1426					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACTGGCTACGCCCTGGGTTTC	0.622000													30	245					4.65686e-17	8.28167e-17	0.003755	1	0
RIPK1	8737	broad.mit.edu	37	6	3111188	3111188	+	Splice_Site	SNP	T	T	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:3111188T>C	ENST00000259808.4	+	10	2026	c.1729_splice	c.e10+1	p.F576_splice	RIPK1_ENST00000380409.2_Splice_Site_p.F576_splice|RIPK1_ENST00000541791.1_Splice_Site_p.F530_splice			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	576	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AAGCTATCTTTGGTAAGATAC	0.403000													9	77					0	0	0.008291	0	0
IMPG2	50939	broad.mit.edu	37	3	100949991	100949991	+	Splice_Site	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:100949991T>A	ENST00000193391.7	-	16	3421		c.e16-2			NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2						visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						ACCCGGCACCTGCAACCAACA	0.498000													25	109					0	0	0.006320	0	0
LPHN3	23284	broad.mit.edu	37	4	62542642	62542642	+	Missense_Mutation	SNP	G	G	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:62542642G>A	ENST00000512091.1	+	5	1115	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	LPHN3_ENST00000507164.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.C123Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000506746.1_Missense_Mutation_p.C191Y|LPHN3_ENST00000514591.1_Missense_Mutation_p.C123Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	123	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAGTATGAATGTGTCCCTTAC	0.388000													33	338					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9048299	9048299	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:9048299G>T	ENST00000397910.4	-	5	33535	c.33332C>A	c.(33331-33333)aCa>aAa	p.T11111K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11113	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						TGGAATAGTTGTACTGGTCAC	0.517000													9	258					1.12685e-05	1.44536e-05	0.004482	1	0
UTS2	10911	broad.mit.edu	37	1	7910884	7910884	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:7910884G>T	ENST00000377516.2	-	3	522	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	UTS2_ENST00000054668.5_Missense_Mutation_p.L83I|UTS2_ENST00000361696.5_Missense_Mutation_p.L68I			O95399	UTS2_HUMAN	urotensin 2	68					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GCTTTCCTGAGAATATCCCCT	0.458000													9	77					1.58986e-06	2.10913e-06	0.008291	1	0
FAM91A1	157769	broad.mit.edu	37	8	124822605	124822605	+	Missense_Mutation	SNP	A	A	G	rs145578903	by1000genomes	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:124822605A>G	ENST00000521166.1	+	23	2592	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	FAM91A1_ENST00000334705.7_Intron			Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	0										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACAAAAACCAAAAAGTCCAAA	0.353000													24	296					0	0	0.005443	0	0
ULK4	54986	broad.mit.edu	37	3	41746639	41746639	+	Silent	SNP	C	C	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:41746639C>A	ENST00000301831.4	-	27	3153	c.2691G>T	c.(2689-2691)ctG>ctT	p.L897L		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	897							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTGATGCTGTCAGTCCTAGAA	0.328000													18	164					9.16793e-09	1.36791e-08	0.004990	1	0
OLFM3	118427	broad.mit.edu	37	1	102302572	102302572	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:102302572T>A	ENST00000370103.4	-	2	292	c.79A>T	c.(79-81)Agt>Tgt	p.S27C	OLFM3_ENST00000359814.3_Missense_Mutation_p.S47C|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.S47C|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	47						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TCTTTAGGACTAATCTGAGTC	0.438000													4	73					0	0	0.009096	0	0
POTEA	340441	broad.mit.edu	37	8	43147866	43147866	+	RNA	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr8:43147866G>T	ENST00000522175.2	+	0	241							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTCCCCAGAGCGGATCTC	0.612000													7	48					0.00198382	0.00222756	0.001984	1	0
WDR52	55779	broad.mit.edu	37	3	113120584	113120584	+	Silent	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:113120584T>A	ENST00000393845.2	-	10	1239	c.1173A>T	c.(1171-1173)atA>atT	p.I391I	WDR52_ENST00000295868.2_Silent_p.I391I	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	391										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CAAAATCCCATATCTTGTAAA	0.308000													13	144					0	0	0.002450	0	0
FLAD1	80308	broad.mit.edu	37	1	154956480	154956480	+	Missense_Mutation	SNP	G	G	A	rs1054257		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:154956480G>A	ENST00000368433.1	+	1	653	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.E104K|FLAD1_ENST00000315144.10_Missense_Mutation_p.E7K|FLAD1_ENST00000368432.1_Missense_Mutation_p.E7K			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	104					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TAGGGCCTCTGAACTTTCTCC	0.607000													6	36					0	0	0.001168	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061680	103061680	+	Missense_Mutation	SNP	G	G	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:103061680G>C	ENST00000264260.2	+	9	1541	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	IL18RAP_ENST00000409369.1_Missense_Mutation_p.E176Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	318	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGAAATCATTGAGCGTAATAT	0.398000													5	71					0	0	0.014758	0	0
DGKG	1608	broad.mit.edu	37	3	186015948	186015948	+	Missense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:186015948C>T	ENST00000265022.3	-	4	754	c.215G>A	c.(214-216)aGc>aAc	p.S72N	DGKG_ENST00000382164.4_Missense_Mutation_p.S72N|DGKG_ENST00000544847.1_Missense_Mutation_p.S72N|DGKG_ENST00000344484.4_Missense_Mutation_p.S72N	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	72					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)	GAGGTGAGTGCTCAGTGGCTG	0.582000													12	145					0	0	0.003163	0	0
FAM183B	340286	broad.mit.edu	37	7	38725214	38725214	+	Missense_Mutation	SNP	T	T	A			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:38725214T>A	ENST00000409072.3	-	2	1326	c.392A>T	c.(391-393)gAt>gTt	p.D131V						family with sequence similarity 183, member B											endometrium(1)|lung(7)	8						GTGGCGATCATCTTCTCCCAA	0.488000													23	300					0	0	0.003954	0	0
ZNF569	148266	broad.mit.edu	37	19	37917230	37917230	+	Nonsense_Mutation	SNP	C	C	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr19:37917230C>T	ENST00000316950.6	-	4	623	c.66G>A	c.(64-66)tgG>tgA	p.W22*	ZNF569_ENST00000392149.2_Nonsense_Mutation_p.W22*|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Nonsense_Mutation_p.W46*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAATCTCTTCCACTCCTCCT	0.393000													7	134					0	0	0.001984	0	0
KCNB1	3745	broad.mit.edu	37	20	47990102	47990102	+	Missense_Mutation	SNP	G	G	T			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr20:47990102G>T	ENST00000371741.4	-	2	2161	c.1995C>A	c.(1993-1995)aaC>aaA	p.N665K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	665					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCTTCAAAGGGTTGTTAGTTT	0.547000													27	80					1.12875e-08	1.67657e-08	0.006320	1	0
SLAMF7	57823	broad.mit.edu	37	1	160720196	160720197	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:160720196_160720197delAG	ENST00000368043.3	+	4	789_790	c.752_753delAG	c.(751-753)afs	p.K251fs	SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.K144fs|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000359331.4_Frame_Shift_Del_p.K251fs|SLAMF7_ENST00000444090.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	251					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGTTTCTGAAGAGAGAGAGAC	0.475													16	812	---	---	---	---					
OR2T34	127068	broad.mit.edu	37	1	248737810	248737811	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr1:248737810_248737811delCA	ENST00000328782.2	-	1	269_270	c.248_249delTG	c.(247-249)gfs	p.V83fs		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCATCTTGGGCACAGTCACGCA	0.574													9	55	---	---	---	---					
TRPM8	79054	broad.mit.edu	37	2	234878999	234879014	+	Frame_Shift_Del	DEL	TCGGTGCCACACCCCC	TCGGTGCCACACCCCC	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr2:234878999_234879014delTCGGTGCCACACCCCC	ENST00000324695.4	+	17	2324_2339	c.2284_2299delTCGGTGCCACACCCCC	c.(2284-2301)ccfs	p.SVPHPP762fs	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	762						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATTTCCATTCGGTGCCACACCCCCCCGAGCTGGT	0.579													21	562	---	---	---	---					
ST3GAL6	10402	broad.mit.edu	37	3	98510825	98510826	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:98510825_98510826delTT	ENST00000265261.6	+	9	965_966	c.543_544delTT	c.(541-546)tctgfs	p.SL181fs	ST3GAL6_ENST00000394162.1_Frame_Shift_Del_p.SL299fs|ST3GAL6_ENST00000483910.1_Frame_Shift_Del_p.SL299fs|ST3GAL6_ENST00000462152.1_3'UTR	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	299					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CCACCATGTCTTTGATGAATAA	0.371													18	550	---	---	---	---					
LIPH	200879	broad.mit.edu	37	3	185234912	185234913	+	Frame_Shift_Ins	INS	-	-	C			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:185234912_185234913insC	ENST00000296252.4	-	7	1065_1066	c.924_925insG	c.(922-927)ggaagafs	p.R309fs	LIPH_ENST00000424591.2_Frame_Shift_Ins_p.R275fs	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	309					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGAGGATCTTTCCCCCTTAGAT	0.376													8	362	---	---	---	---					
MUC20	200958	broad.mit.edu	37	3	195452664	195452664	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr3:195452664delC	ENST00000320736.6	+	3	803	c.677delC	c.(676-678)acfs	p.T226fs	MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs|MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	397	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCAGTCATCACCCCCTCATGG	0.587													2	4	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66197696	66197696	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:66197696delG	ENST00000273854.3	-	17	3603	c.3003delC	c.(3001-3003)acfs	p.T1001fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.T838fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.T1002fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.T979fs	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1001	SAM.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCACTCCAAGGTCACCTGAG	0.403										TSP Lung(17;0.13)			18	203	---	---	---	---					
C4orf22	255119	broad.mit.edu	37	4	81283972	81283972	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:81283972delG	ENST00000358105.3	+	2	225	c.176delG	c.(175-177)agfs	p.R59fs	C4orf22_ENST00000512931.1_3'UTR|C4orf22_ENST00000508675.1_Frame_Shift_Del_p.R59fs	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	59										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AGAGTGAAAAGGGAAGATTTT	0.468													35	327	---	---	---	---					
PDHA2	5161	broad.mit.edu	37	4	96762352	96762352	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr4:96762352delG	ENST00000295266.4	+	1	1114	c.1051delG	c.(1051-1053)ctfs	p.A351fs		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	351					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)	TGCCCAGTTTGCTACCACTGA	0.438													26	231	---	---	---	---					
GHR	2690	broad.mit.edu	37	5	42719054	42719054	+	Frame_Shift_Del	DEL	C	C	-	rs6176	byFrequency	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:42719054delC	ENST00000230882.4	+	10	1635	c.1445delC	c.(1444-1446)tafs	p.S482fs	GHR_ENST00000357703.3_Frame_Shift_Del_p.S460fs|GHR_ENST00000537449.1_Frame_Shift_Del_p.S295fs	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	482					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTTCACTGTCAAACATCGAC	0.483													23	93	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													2	4	---	---	---	---					
DAXX	1616	broad.mit.edu	37	6	33287889	33287891	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:33287889_33287891delTCT	ENST00000374542.5	-	5	1566_1568	c.1362_1364delAGA	c.(1360-1365)gag>ga	p.EE456del	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_In_Frame_Del_p.EE456del|DAXX_ENST00000414083.2_In_Frame_Del_p.EE381del	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	456	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGcctcctcctcttcttcttcct	0.552			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								9	56	---	---	---	---					
BAI3	577	broad.mit.edu	37	6	69949060	69949060	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr6:69949060delT	ENST00000370598.1	+	20	3577	c.2756delT	c.(2755-2757)cgfs	p.L919fs	BAI3_ENST00000238918.8_Frame_Shift_Del_p.L125fs	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	919					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AACTTCTGCCTGTCTATCATC	0.348													38	375	---	---	---	---					
CCT6A	908	broad.mit.edu	37	7	56123401	56123402	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:56123401_56123402delAG	ENST00000275603.4	+	4	640_641	c.421_422delAG	c.(421-423)afs	p.R141fs	CCT6A_ENST00000540286.1_Frame_Shift_Del_p.R110fs|CCT6A_ENST00000335503.3_Frame_Shift_Del_p.R96fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	141					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAAGTAAGCAGAGAGATGGAC	0.391													8	91	---	---	---	---					
GPC2	221914	broad.mit.edu	37	7	99771549	99771549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr7:99771549delG	ENST00000292377.2	-	5	968	c.801delC	c.(799-801)ccfs	p.P267fs	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	267						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCATAAGTGAGGGGACCCCCC	0.652													7	159	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131346727	131346727	+	Frame_Shift_Del	DEL	A	A	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr9:131346727delA	ENST00000372739.3	+	17	2470	c.2360delA	c.(2359-2361)cgfs	p.Q788fs	SPTAN1_ENST00000372731.4_Frame_Shift_Del_p.Q788fs|SPTAN1_ENST00000358161.5_Frame_Shift_Del_p.Q788fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	788					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGCGGTTGCAGCAGCTCTTC	0.557													12	67	---	---	---	---					
CPEB3	22849	broad.mit.edu	37	10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr10:93999920delG	ENST00000412050.4	-	2	276	c.188delC	c.(187-189)cgfs	p.P63fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.P63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692													2	4	---	---	---	---					
PVRL1	5818	broad.mit.edu	37	11	119535730	119535732	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr11:119535730_119535732delCTT	ENST00000264025.3	-	6	1809_1811	c.1279_1281delAAG	c.(1279-1281)del	p.K427del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	427					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGGGCCGGCCTTCTTCTCGTCG	0.650													14	96	---	---	---	---					
COQ10A	93058	broad.mit.edu	37	12	56661501	56661503	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:56661501_56661503delTCT	ENST00000546544.1	+	1	36_38	c.7_9delTCT	c.(7-9)del	p.S5del	COQ10A_ENST00000433805.2_Intron|COQ10A_ENST00000308197.5_Intron			Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)	0						mitochondrial inner membrane				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TGGGATGCACTCTTCTTCTCCTT	0.537													15	90	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64061906	64061906	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:64061906delC	ENST00000324472.4	-	1	451	c.268delG	c.(268-270)cgfs	p.A90fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	90					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CGGAGCTGCGCCAGGGAATTA	0.607													19	246	---	---	---	---					
ATP2B1	490	broad.mit.edu	37	12	90036108	90036109	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr12:90036108_90036109delAA	ENST00000428670.3	-	3	688_689	c.232_233delTT	c.(232-234)afs	p.L78fs	ATP2B1_ENST00000359142.3_Frame_Shift_Del_p.L78fs|ATP2B1_ENST00000348959.3_Frame_Shift_Del_p.L78fs|ATP2B1_ENST00000261173.2_Frame_Shift_Del_p.L78fs			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	78					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TCTTCTTTCTAAATCTGCAGGG	0.292													56	527	---	---	---	---					
MEDAG	84935	broad.mit.edu	37	13	31495730	31495730	+	Frame_Shift_Del	DEL	C	C	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:31495730delC	ENST00000380482.4	+	4	859	c.534delC	c.(532-534)ttfs	p.F178fs	TEX26-AS1_ENST00000593246.1_RNA|TEX26-AS1_ENST00000586464.1_RNA|TEX26-AS1_ENST00000585870.1_RNA|TEX26-AS1_ENST00000588726.1_RNA|TEX26-AS1_ENST00000451495.2_RNA|TEX26-AS1_ENST00000590721.1_RNA|TEX26-AS1_ENST00000586973.1_RNA|TEX26-AS1_ENST00000592950.1_RNA|TEX26-AS1_ENST00000590344.1_RNA	NM_032849.3	NP_116238.2			mesenteric estrogen-dependent adipogenesis																		AGAATTTCTTCCCCCCAGGAA	0.358													27	233	---	---	---	---					
ABHD13	84945	broad.mit.edu	37	13	108882324	108882327	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr13:108882324_108882327delTCTC	ENST00000375898.3	+	2	1059_1062	c.758_761delTCTC	c.(757-762)atfs	p.IS253fs		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	253						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TACAGAAAAATCTCTCAGTGTAGA	0.373													14	171	---	---	---	---					
HECTD1	25831	broad.mit.edu	37	14	31597204	31597206	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr14:31597204_31597206delGAG	ENST00000399332.1	-	26	5254_5256	c.4766_4768delCTC	c.(4765-4770)ctt>c	p.PL1589del	HECTD1_ENST00000553700.1_In_Frame_Del_p.PL1589del	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1589	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCACCCATAAGAGGAGAAGCTAA	0.379													9	65	---	---	---	---					
C17orf53	78995	broad.mit.edu	37	17	42239276	42239278	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:42239276_42239278delCTT	ENST00000319977.4	+	10	2157_2159	c.1920_1922delCTT	c.(1918-1923)gac>ga	p.DF640del	C17orf53_ENST00000245382.6_3'UTR|C17orf53_ENST00000585683.1_In_Frame_Del_p.DF639del	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	640										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCCTGAAGACTTCTTCTGTGGG	0.537													10	125	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42478248	42478249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr17:42478248_42478249insG	ENST00000434000.1	-	9	1244_1245	c.962_963insC	c.(961-963)cgcfs	p.R321fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	399						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGCAGTGTGCTGGGGGGATGTA	0.441											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	283	---	---	---	---					
SERPINB2	5055	broad.mit.edu	37	18	61569758	61569758	+	Frame_Shift_Del	DEL	T	T	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr18:61569758delT	ENST00000457692.1	+	8	1132	c.799delT	c.(799-801)tgfs	p.L268fs	SERPINB2_ENST00000299502.4_Frame_Shift_Del_p.L268fs|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	268					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CATGTTCTTGTTGCTTCCAGA	0.423													16	391	---	---	---	---					
LINC01399	104310353	broad.mit.edu	37	22	35589672	35589673	+	RNA	INS	-	-	GAAG	rs140037973	by1000genomes	TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:35589672_35589673insGAAG	ENST00000423311.1	-	0	222																											agggaagggaagaaggaaggaa	0.535													4	7	---	---	---	---					
KDELR3	11015	broad.mit.edu	37	22	38875737	38875738	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:38875737_38875738delAC	ENST00000216014.4	+	3	504_505	c.332_333delAC	c.(331-333)tfs	p.Y111fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.Y111fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	111					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CTTGAAAACTACAGTTTCACTC	0.470													38	362	---	---	---	---					
SMC1B	27127	broad.mit.edu	37	22	45782818	45782819	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chr22:45782818_45782819delCA	ENST00000357450.4	-	11	1838_1839	c.1839_1840delTG	c.(1837-1842)tggafs	p.CG613fs	SMC1B_ENST00000404354.3_Frame_Shift_Del_p.CG613fs	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	613	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACCATTTCCACACACAAACT	0.401													17	233	---	---	---	---					
GABRE	2564	broad.mit.edu	37	X	151131056	151131058	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-17-Z062-01A-01W-0747-08	TCGA-17-Z062-11A-01W-0747-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3280e5f-7d6e-4a18-a5a5-e84b805c9e66	5d71c2a8-7cc0-4cbc-a28e-eaead5e4a39a	g.chrX:151131056_151131058delGTT	ENST00000370325.1	-	4	453_455	c.400_402delAAC	c.(400-402)del	p.N134del	GABRE_ENST00000370328.3_In_Frame_Del_p.N134del|GABRE_ENST00000393914.3_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	134					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.N21N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGGTGTCGTTGTAACAGAGG	0.483													9	141	---	---	---	---					
