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
FAM86FP	653113	broad.mit.edu	37	12	8386966	8386966	+	RNA	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:8386966C>T	ENST00000427893.2	-	0	800																											GGCAGGCAGCCAGCCTCCGCA	0.597000													6	48					0	0	0.00116845	0	0
NYAP1	222950	broad.mit.edu	37	7	100085944	100085944	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:100085944C>T	ENST00000423930.1	+	4	759	c.600C>T	c.(598-600)tcC>tcT	p.S200S	NYAP1_ENST00000454988.1_Silent_p.S143S|NYAP1_ENST00000300179.2_Silent_p.S200S			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	200																	CTAGGGGGTCCCGAGTAGCTG	0.637000													48	11					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179581844	179581844	+	Silent	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179581844A>G	ENST00000589042.1	-	88	25841	c.25617T>C	c.(25615-25617)tgT>tgC	p.C8539C	TTN_ENST00000591111.1_Silent_p.C8222C|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.C7295C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8222	Ig-like 68.						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)			GCTGAGCAGAACAAGAGTCTT	0.453000													10	31					0	0	0.000442599	0	0
NEK2	4751	broad.mit.edu	37	1	211842669	211842669	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:211842669G>A	ENST00000366999.4	-	6	909	c.771C>T	c.(769-771)taC>taT	p.Y257Y	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Silent_p.Y257Y|NEK2_ENST00000540251.1_Silent_p.Y214Y	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	257	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		AAGGTCGATGGTAATCCTGGG	0.373000													38	36					0	0	0.00148497	0	0
ADCY10	55811	broad.mit.edu	37	1	167814888	167814888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:167814888G>A	ENST00000367848.1	-	21	3141	c.2644C>T	c.(2644-2646)Ccc>Tcc	p.P882S	ADCY10_ENST00000367851.4_Missense_Mutation_p.P974S|ADCY10_ENST00000545172.1_Missense_Mutation_p.P821S|ADCY10_ENST00000485964.1_5'UTR			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	974					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGATGATAGGGAATGAAGTCC	0.448000													40	59					0	0	0.000437636	0	0
SCARF1	8578	broad.mit.edu	37	17	1538457	1538457	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:1538457C>T	ENST00000263071.4	-	11	2137	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	SCARF1_ENST00000348987.3_Silent_p.G610G|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	696	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCGGGGCTTCCCTGCCAGCA	0.632000													21	25					0	0	0.000375601	0	0
ZNF331	55422	broad.mit.edu	37	19	54080355	54080355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:54080355C>T	ENST00000253144.9	+	7	1874	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	ZNF331_ENST00000449416.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H181Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.H181Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H181Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H181N(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAAAAAATTCATACTGGGGA	0.418000			T	?	follicular thyroid adenoma								56	20					0	0	0.000781405	0	0
PRDM9	56979	broad.mit.edu	37	5	23527498	23527498	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:23527498G>A	ENST00000296682.3	+	11	2483	c.2301G>A	c.(2299-2301)caG>caA	p.Q767Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	767					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAGACACCAGAGGACACACA	0.582000										HNSCC(3;0.000094)			39	33					0	0	0.000509022	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751283	19751283	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:19751283C>T	ENST00000400113.3	-	4	944	c.840G>A	c.(838-840)aaG>aaA	p.K280K		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	280					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CGTGGTAGGCCTTCTCGGCTG	0.602000													38	27					0	0	0.00128727	0	0
GPR75	10936	broad.mit.edu	37	2	54080278	54080278	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:54080278G>A	ENST00000394705.2	-	2	1886	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	539						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACTTTAAACGGAGGGGACTGG	0.393000													35	47					0	0	0.00128727	0	0
GIF	2694	broad.mit.edu	37	11	59611434	59611434	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:59611434C>T	ENST00000541311.1	-	2	333	c.99G>A	c.(97-99)ctG>ctA	p.L33L	GIF_ENST00000257248.2_Silent_p.L58L			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	58					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TCATGGCAATCAGGATGCTGG	0.542000													23	24					0	0	0.00047179	0	0
CD1C	911	broad.mit.edu	37	1	158263023	158263023	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:158263023G>A	ENST00000368170.3	+	5	1190	c.911G>A	c.(910-912)tGg>tAg	p.W304*		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	304					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCCATGAATTGGATTGCCTTG	0.393000													94	147					0	0	0.000781405	0	0
WDR49	151790	broad.mit.edu	37	3	167245747	167245747	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:167245747G>A	ENST00000308378.3	-	11	1714	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	470										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						AGGTTGGAATGATCTTATCAG	0.403000													29	17					0	0	0.000339439	0	0
BSN	8927	broad.mit.edu	37	3	49692305	49692305	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:49692305C>T	ENST00000296452.4	+	5	5430	c.5316C>T	c.(5314-5316)gcC>gcT	p.A1772A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1772					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGTGCCTGGCCCAGGTCAAAC	0.592000													26	14					0	0	0.00047179	0	0
DSCAM	1826	broad.mit.edu	37	21	41711158	41711158	+	Silent	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:41711158C>A	ENST00000400454.1	-	7	1872	c.1395G>T	c.(1393-1395)gtG>gtT	p.V465V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	465	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTAGCTGACCACGTTCCCCT	0.612000													10	28					1.58986e-06	1.33246e-05	0.000673444	1	0
RAB37	326624	broad.mit.edu	37	17	72667748	72667748	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:72667748C>T	ENST00000340415.3	+	1	1032	c.23C>T	c.(22-24)tCc>tTc	p.S8F	RAB37_ENST00000402449.4_Missense_Mutation_p.S8F	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AGACCCGATTCCTACCAGGGA	0.612000													18	29					0	0	0.000375601	0	0
OR4C3	256144	broad.mit.edu	37	11	48347263	48347263	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:48347263G>A	ENST00000319856.4	+	1	792	c.771G>A	c.(769-771)ggG>ggA	p.G257G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGCAGATGGGAGATGCAAAG	0.473000													9	70					0	0	0.000442599	0	0
NYAP2	57624	broad.mit.edu	37	2	226447505	226447505	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:226447505G>A	ENST00000272907.6	+	4	1785	c.1372G>A	c.(1372-1374)Gac>Aac	p.D458N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	458	Pro-rich.																TCCCCCTTACGACGCTGTGCA	0.627000													15	27					0	0	0.000566183	0	0
A2ML1	144568	broad.mit.edu	37	12	9002864	9002864	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:9002864C>T	ENST00000299698.7	+	18	2408	c.2228C>T	c.(2227-2229)cCt>cTt	p.P743L	A2ML1_ENST00000539547.1_Missense_Mutation_p.P252L	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	587						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCTGTTTCCTATTGGGTAA	0.502000													12	38					0	0	0.000978159	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590071	115590071	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:115590071G>A	ENST00000371900.4	+	14	1967	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	SLC6A14_ENST00000463626.1_3'UTR	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	627					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TCCTAAAAAAGAGGCTGACCA	0.383000													56	24					0	0	0.000781405	0	0
POM121L12	285877	broad.mit.edu	37	7	53103527	53103527	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:53103527C>A	ENST00000408890.4	+	1	179	c.163C>A	c.(163-165)Ctg>Atg	p.L55M		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	55										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCCCTGGCCCCTGAGGTCCCT	0.697000													16	19					1.78486e-19	1.52411e-18	0.000958276	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656570	40656570	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:40656570G>A	ENST00000406785.1	-	2	1040	c.851C>T	c.(850-852)tCt>tTt	p.S284F	SLC8A1_ENST00000332839.4_Missense_Mutation_p.S284F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S284F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S284F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S284F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S284F|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S284F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	284					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCTTAGAAGATGGCCTGTC	0.443000													69	142					0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144877260	144877260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:144877260G>A	ENST00000369359.4	-	31	4873	c.4835C>T	c.(4834-4836)tCc>tTc	p.S1612F	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1612F|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1476F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1476F|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1432F			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1476	NBPF.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTGAATCAGGGAATCATATTT	0.428000			T	PDGFRB	MPD								14	66					0	0	0.000308642	0	0
COL9A1	1297	broad.mit.edu	37	6	70983758	70983758	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:70983758C>T	ENST00000357250.6	-	12	1215	c.1057G>A	c.(1057-1059)Gga>Aga	p.G353R	COL9A1_ENST00000370499.4_Missense_Mutation_p.G110R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G110R|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	353	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ACTGGAAATCCACGCGATCCA	0.289000													14	16					0	0	0.00074312	0	0
ELFN2	114794	broad.mit.edu	37	22	37771217	37771217	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:37771217C>T	ENST00000402918.1	-	3	1143	c.358G>A	c.(358-360)Gag>Aag	p.E120K	ELFN2_ENST00000349653.3_Missense_Mutation_p.E120K|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	120						cell surface|integral to membrane		p.E120K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGCATGCCCTCCGTCAGGTTG	0.622000													28	20					0	0	0.00127121	0	0
COL22A1	169044	broad.mit.edu	37	8	139791793	139791793	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:139791793C>T	ENST00000303045.6	-	14	2109	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	COL22A1_ENST00000435777.1_Missense_Mutation_p.E555K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	555	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCCAGCTCTCCTGGCTCC	0.622000										HNSCC(7;0.00092)			15	52					0	0	0.00121646	0	0
NECAB2	54550	broad.mit.edu	37	16	84027966	84027966	+	Missense_Mutation	SNP	C	C	T	rs79514285	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:84027966C>T	ENST00000565691.1	+	5	1129	c.407C>T	c.(406-408)cCc>cTc	p.P136L	NECAB2_ENST00000305202.4_Missense_Mutation_p.P219L|NECAB2_ENST00000567703.1_3'UTR			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	219					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AGCCCCACTCCCGCCTCTGCC	0.617000													6	14					0	0	8.12818e-05	0	0
GPR63	81491	broad.mit.edu	37	6	97246954	97246954	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:97246954G>A	ENST00000229955.3	-	2	999	c.654C>T	c.(652-654)ccC>ccT	p.P218P	GPR63_ENST00000417980.1_Silent_p.P218P	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	218						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TCTGCAGGTCGGGGTTTCCTA	0.458000													39	42					0	0	0.000589545	0	0
LRP1B	53353	broad.mit.edu	37	2	141751606	141751606	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141751606C>T	ENST00000389484.3	-	16	3573	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	868	LDL-receptor class A 3.				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)		AGGCAGTCATCGTCGCCATCA	0.438000										TSP Lung(27;0.18)			33	58					0	0	0.000491102	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496687	20496687	+	RNA	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:20496687A>G	ENST00000555186.1	+	0	740					NR_038836.1																						TGTGTTGTGAACTCCATGGTT	0.423000													7	77					0	0	0.000157383	0	0
PDZD7	79955	broad.mit.edu	37	10	102782051	102782051	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:102782051G>A	ENST00000370215.3	-	5	859	c.634C>T	c.(634-636)Cac>Tac	p.H212Y		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	212	PDZ 2.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GTGTATAGGTGGACGATGCGC	0.587000													13	5					0	0	0.00185496	0	0
GCN1L1	10985	broad.mit.edu	37	12	120574381	120574381	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:120574381G>A	ENST00000300648.6	-	51	6945	c.6933C>T	c.(6931-6933)atC>atT	p.I2311I		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2311					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGATGCGGATCAGAGGGC	0.592000													13	32					0	0	0.00136819	0	0
PRLR	5618	broad.mit.edu	37	5	35065986	35065986	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:35065986G>A	ENST00000382002.5	-	10	1500	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.S257S|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Silent_p.S257S	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	358					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGACAAAAGGGAAGGGCTGT	0.498000													21	22					0	0	0.00188189	0	0
XPO1	7514	broad.mit.edu	37	2	61724052	61724052	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:61724052C>A	ENST00000401558.2	-	10	1577	c.850G>T	c.(850-852)Gta>Tta	p.V284L	XPO1_ENST00000406957.1_Missense_Mutation_p.V284L|XPO1_ENST00000404992.2_Missense_Mutation_p.V284L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	284	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATAGTGTTACAAATTGTTCT	0.328000			Mis		CLL								8	29					1.12685e-05	9.39438e-05	0.000274275	1	0
CACNA1C	775	broad.mit.edu	37	12	2706447	2706447	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:2706447G>T	ENST00000399655.1	+	21	3110	c.2845G>T	c.(2845-2847)Gct>Tct	p.A949S	CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A974S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A949S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A949S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A949S|CACNA1C_ENST00000399644.1_Intron	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	949					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATTGAAATTGCTCTGAAGGT	0.488000													21	105					4.16121e-05	0.000346003	0.000375601	1	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:114326902C>T	ENST00000297405.5	-	2	543	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_ENST00000352409.3_Missense_Mutation_p.R100Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R60Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R100Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	100	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			58	92					0	0	0.000781405	0	0
BRINP3	339479	broad.mit.edu	37	1	190195377	190195377	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:190195377T>C	ENST00000367462.3	-	6	1027	c.796A>G	c.(796-798)Aat>Gat	p.N266D	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.N164D	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		266						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)					CCCTCTGAATTGCAAGCAATG	0.428000													17	42					0	0	0.00188189	0	0
HEATR4	399671	broad.mit.edu	37	14	73962038	73962038	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:73962038C>T	ENST00000553558.1	-	16	3000	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	HEATR4_ENST00000334988.2_Silent_p.E893E|HEATR4_ENST00000560393.1_Silent_p.E846E	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCATGACCATCTCCAGCTTGA	0.373000													24	9					0	0	0.000878237	0	0
NEK2	4751	broad.mit.edu	37	1	211842553	211842553	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:211842553G>A	ENST00000366999.4	-	6	1025	c.887C>T	c.(886-888)tCg>tTg	p.S296L	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.S296L|NEK2_ENST00000540251.1_Missense_Mutation_p.S253L	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	296	Interaction with PCNT.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		GGAATCCTGCGATTTTTCTGG	0.443000													42	100					0	0	0.00148497	0	0
KIF18A	81930	broad.mit.edu	37	11	28104458	28104458	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:28104458C>T	ENST00000263181.6	-	9	1497	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	403					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGGTCATTTTCATTAGTGAAG	0.274000													13	47					0	0	0.000308642	0	0
SETDB1	9869	broad.mit.edu	37	1	150900198	150900198	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:150900198C>T	ENST00000271640.5	+	2	198	c.8C>T	c.(7-9)tCc>tTc	p.S3F	SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368963.1_Missense_Mutation_p.S3F|SETDB1_ENST00000368962.2_Missense_Mutation_p.S3F|SETDB1_ENST00000368969.4_Missense_Mutation_p.S3F	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCATGTCTTCCCTTCCTGGG	0.423000													36	64					0	0	0.00170553	0	0
CIDEA	1149	broad.mit.edu	37	18	12277224	12277224	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr18:12277224G>A	ENST00000320477.9	+	5	680	c.615G>A	c.(613-615)cgG>cgA	p.R205R	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	205					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGGAAGAGCGGCCATCCCTCC	0.577000													19	12					0	0	0.000295444	0	0
HLCS	3141	broad.mit.edu	37	21	38126705	38126705	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:38126705G>A	ENST00000399120.1	-	12	3253	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	HLCS_ENST00000336648.3_Missense_Mutation_p.H675Y	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	675					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTGCCCAGATGGACTTGCTGA	0.547000													8	20					0	0	0.000274275	0	0
DPYD	1806	broad.mit.edu	37	1	97981290	97981290	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:97981290G>A	ENST00000370192.3	-	13	1832	c.1732C>T	c.(1732-1734)Ctt>Ttt	p.L578F		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	578					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ACCTTATCAAGAGAGAAAGTT	0.333000													34	53					0	0	0.000692331	0	0
NLRP1	22861	broad.mit.edu	37	17	5462137	5462137	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:5462137G>A	ENST00000345221.3	-	4	2433	c.1879C>T	c.(1879-1881)Caa>Taa	p.Q627*	NLRP1_ENST00000577119.1_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000269280.4_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000572272.1_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000262467.5_Nonsense_Mutation_p.Q627*|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Nonsense_Mutation_p.Q627*	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	627	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AAGAACTCTTGGAAACAGAGG	0.453000													11	37					0	0	0.000673444	0	0
RFX6	222546	broad.mit.edu	37	6	117244339	117244339	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:117244339G>A	ENST00000332958.2	+	14	1523	c.1507G>A	c.(1507-1509)Ggt>Agt	p.G503S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	503					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GAGTTTTTTTGGTGCTCGAGT	0.323000													22	46					0	0	0.00152264	0	0
RNF32	140545	broad.mit.edu	37	7	156469010	156469010	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:156469010G>A	ENST00000311822.8	+	9	1028	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	RNF32_ENST00000405335.1_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000432459.2_Intron|AC005534.9_ENST00000430825.1_RNA|RNF32_ENST00000317955.5_Intron|RNF32_ENST00000392743.2_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	124						aggresome|endosome	protein binding|zinc ion binding	p.E292K(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGCATGTTTCGAAGACCCATG	0.413000													12	10					0	0	0.000978159	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891837	18891837	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:18891837G>A	ENST00000317658.3	+	1	793	c.635G>A	c.(634-636)aGc>aAc	p.S212N		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	212					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGAAAGAAAGCTTGGAAATA	0.403000													13	43					0	0	0.00136819	0	0
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:10432765G>A	ENST00000245503.5	-	25	3535	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1051C|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383000													19	68					0	0	0.000375601	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634093	70634093	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70634093C>T	ENST00000381269.2	-	2	1800	c.1047G>A	c.(1045-1047)aaG>aaA	p.K349K	SLC8A3_ENST00000528359.1_Silent_p.K349K|SLC8A3_ENST00000534137.1_Silent_p.K349K|SLC8A3_ENST00000357887.3_Silent_p.K349K|SLC8A3_ENST00000356921.2_Silent_p.K349K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	349					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGGCACGGCTCTTCTGTTGGT	0.493000													37	21					0	0	0.00195071	0	0
PTCH2	8643	broad.mit.edu	37	1	45294871	45294871	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:45294871G>A	ENST00000447098.2	-	10	1340	c.1329C>T	c.(1327-1329)ctC>ctT	p.L443L	PTCH2_ENST00000372192.3_Silent_p.L443L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	443	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGGGCACAGAGCCCAAGGC	0.667000									Basal Cell Nevus syndrome				13	16					0	0	0.00185496	0	0
TBC1D32	221322	broad.mit.edu	37	6	121560300	121560300	+	Silent	SNP	G	G	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:121560300G>C	ENST00000275159.6	-	20	2279	c.2280C>G	c.(2278-2280)tcC>tcG	p.S760S	TBC1D32_ENST00000398212.2_Silent_p.S760S					TBC1 domain family, member 32																		ATTCCAGATTGGACCATAATT	0.328000													31	73					0	0	0.00127121	0	0
GPR61	83873	broad.mit.edu	37	1	110086463	110086463	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:110086463G>A	ENST00000527748.1	+	2	1502	c.819G>A	c.(817-819)caG>caA	p.Q273Q		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGGCCCCCCAGACCACCCCAC	0.652000													22	17					0	0	0.00188189	0	0
TENM3	55714	broad.mit.edu	37	4	183696080	183696080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:183696080G>A	ENST00000511685.1	+	24	5201	c.5078G>A	c.(5077-5079)aGa>aAa	p.R1693K	TENM3_ENST00000406950.2_Missense_Mutation_p.R1693K					teneurin transmembrane protein 3																		GATCAGTTAAGAAACAGCTAC	0.438000													5	21					0	0	0.000602214	0	0
LINC00696	100128378	broad.mit.edu	37	3	52097287	52097287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:52097287C>T	ENST00000541313.1	-	1	280	c.281G>A	c.(280-282)tGg>tAg	p.W94*																								CTCTGTCTTCCACAGAACATT	0.542000													55	26					0	0	0.000781405	0	0
MARK3	4140	broad.mit.edu	37	14	103946816	103946816	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:103946816C>T	ENST00000429436.2	+	14	2085	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	MARK3_ENST00000553942.1_Silent_p.G525G|MARK3_ENST00000440884.3_Silent_p.G446G|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000416682.2_Silent_p.G548G|MARK3_ENST00000335102.5_Silent_p.G548G|MARK3_ENST00000303622.9_Silent_p.G525G|MARK3_ENST00000216288.7_Silent_p.G509G	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	525							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTCAGAATGGCAAAGAAAACA	0.358000													61	22					0	0	0.000781405	0	0
BAZ1B	9031	broad.mit.edu	37	7	72892240	72892240	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:72892240T>A	ENST00000339594.4	-	7	1889	c.1551A>T	c.(1549-1551)gaA>gaT	p.E517D	BAZ1B_ENST00000404251.1_Missense_Mutation_p.E517D	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	517	Lys-rich.				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)				GACTTCGCAATTCTTCTGGGA	0.428000													46	82					0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	33840330	33840330	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:33840330G>A	ENST00000389232.4	+	9	810		c.e9-1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)		TCTGCTCACAGGAGGATATTC	0.552000													4	11					0	0	0.000602214	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713473	70713473	+	RNA	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70713473G>A	ENST00000530196.1	-	0	1045					NR_003951.1																						ACTTATAAGTGAATTTTTTAT	0.383000													45	31					0	0	0.000680045	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604253	124604253	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:124604253G>A	ENST00000368417.1	+	2	217	c.157G>A	c.(157-159)Gga>Aga	p.G53R	NKAIN2_ENST00000546092.1_Missense_Mutation_p.G53R|NKAIN2_ENST00000476571.1_3'UTR|NKAIN2_ENST00000545433.1_Missense_Mutation_p.G38R|NKAIN2_ENST00000368416.1_Missense_Mutation_p.G53R	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	53						integral to membrane|plasma membrane		p.G53R(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGTTTGTTTGGAACTATTCA	0.353000													19	38					0	0	0.000958276	0	0
MTR	4548	broad.mit.edu	37	1	236995338	236995338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:236995338C>T	ENST00000366577.5	+	13	1542	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	MTR_ENST00000535889.1_Missense_Mutation_p.S383L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	383	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GTTGCAGGATCAAGGAAGTTT	0.428000													29	43					0	0	0.000409698	0	0
GRIA2	2891	broad.mit.edu	37	4	158256979	158256979	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:158256979G>A	ENST00000296526.7	+	10	1748	c.1423G>A	c.(1423-1425)Gat>Aat	p.D475N	GRIA2_ENST00000393815.2_Missense_Mutation_p.D428N|GRIA2_ENST00000507898.1_Missense_Mutation_p.D428N|GRIA2_ENST00000264426.9_Missense_Mutation_p.D475N|GRIA2_ENST00000449365.1_Missense_Mutation_p.D428N	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	475					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGGGGCCAGGGATGCAGACAC	0.423000													14	2					0	0	0.000308642	0	0
TECTA	7007	broad.mit.edu	37	11	120983847	120983847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:120983847G>A	ENST00000392793.1	+	5	824	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	TECTA_ENST00000264037.2_Missense_Mutation_p.E185K			O75443	TECTA_HUMAN	tectorin alpha	185	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.E185Q(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CAATTATTACGAAATCAACTG	0.572000											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	35					0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	9074625	9074625	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:9074625G>A	ENST00000397910.4	-	3	13024	c.12821C>T	c.(12820-12822)cCa>cTa	p.P4274L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4276	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						GGTAACCAATGGAGATGTGGC	0.483000													29	20					0	0	0.00178596	0	0
TGM7	116179	broad.mit.edu	37	15	43585097	43585097	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:43585097G>A	ENST00000452443.2	-	3	253	c.249C>T	c.(247-249)gtC>gtT	p.V83V		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	83					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)	TCCCGGGCTGGACCCGGGTGA	0.537000													67	66					0	0	0.000781405	0	0
CASZ1	54897	broad.mit.edu	37	1	10719965	10719965	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:10719965G>A	ENST00000377022.3	-	6	1451	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	CASZ1_ENST00000344008.5_Silent_p.V378V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGATGCCCCGGACGTCGTACT	0.721000													8	23					0	0	0.000442599	0	0
SVEP1	79987	broad.mit.edu	37	9	113238484	113238484	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:113238484C>T	ENST00000374461.1	-	14	2935	c.2530G>A	c.(2530-2532)Ggt>Agt	p.G844S	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Splice_Site_p.G867_splice|SVEP1_ENST00000401783.2_Splice_Site_p.G867_splice|SVEP1_ENST00000374469.1_Splice_Site_p.G844_splice			Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	867					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						ATTTAATTACCAATTGCAAAG	0.348000													34	28					0	0	0.000409698	0	0
DDX41	51428	broad.mit.edu	37	5	176939793	176939793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:176939793G>A	ENST00000507955.1	-	13	1910	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	463	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGCCCCCATGGATGGCTACG	0.587000													46	26					0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141108424	141108424	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141108424C>T	ENST00000389484.3	-	77	12805	c.11834G>A	c.(11833-11835)gGa>gAa	p.G3945E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3945					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3945V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTAGAAAATTCCGCCTGGATT	0.328000										TSP Lung(27;0.18)			18	48					0	0	0.00074312	0	0
ESPNL	339768	broad.mit.edu	37	2	239040160	239040160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:239040160G>A	ENST00000343063.3	+	9	3068	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	ESPNL_ENST00000409506.1_Nonsense_Mutation_p.W567*|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Nonsense_Mutation_p.W891*	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	935										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GTCCCGCCTGGGATACGGAGC	0.726000													11	10					0	0	0.000673444	0	0
ADAM21	8747	broad.mit.edu	37	14	70926041	70926041	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:70926041G>A	ENST00000603540.1	+	2	2083	c.1825G>A	c.(1825-1827)Gat>Aat	p.D609N	ADAM21_ENST00000267499.3_Missense_Mutation_p.D609N|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	609	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGAAGTGAAAGATGGTACTGT	0.428000													23	15					0	0	0.00047179	0	0
C12orf60	144608	broad.mit.edu	37	12	14976313	14976313	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:14976313C>T	ENST00000330828.2	+	2	648	c.444C>T	c.(442-444)atC>atT	p.I148I	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	148										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AATTCCCCATCATGAATCTTC	0.423000													12	47					0	0	0.000978159	0	0
FUT9	10690	broad.mit.edu	37	6	96651903	96651903	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:96651903A>T	ENST00000302103.5	+	3	1198	c.872A>T	c.(871-873)gAt>gTt	p.D291V		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	291					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATGTGGAAGATTATAACTCT	0.383000													24	26					0	0	0.000375601	0	0
OR51S1	119692	broad.mit.edu	37	11	4869859	4869859	+	Missense_Mutation	SNP	G	G	A	rs142743963	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:4869859G>A	ENST00000322101.2	-	1	655	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R194C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCCAAACGAGCCACATCT	0.552000													37	36					0	0	0.000814825	0	0
PCDH15	65217	broad.mit.edu	37	10	56128965	56128965	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:56128965T>A	ENST00000373965.2	-	5	783	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	PCDH15_ENST00000373957.3_Missense_Mutation_p.Y108F|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y135F|PCDH15_ENST00000395446.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395442.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395440.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y108F|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y130F|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y130F|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y130F|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y130F|PCDH15_ENST00000373955.1_Missense_Mutation_p.Y130F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	130	Cadherin 1.				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)				CACTTCATGGTAGATAATAGT	0.413000										HNSCC(58;0.16)			21	13					0	0	0.00152264	0	0
GPLD1	2822	broad.mit.edu	37	6	24460549	24460549	+	Silent	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:24460549A>G	ENST00000230036.1	-	12	1076	c.966T>C	c.(964-966)taT>taC	p.Y322Y		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	322						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CTCTTTCAGTATAGTTTATAT	0.363000													47	47					0	0	0.000781405	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951319	124951319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:124951319C>T	ENST00000403796.2	+	8	998	c.697C>T	c.(697-699)Cca>Tca	p.P233S	SLC37A2_ENST00000407458.1_Missense_Mutation_p.P233S|SLC37A2_ENST00000298280.5_Missense_Mutation_p.P233S|SLC37A2_ENST00000308074.4_Missense_Mutation_p.P233S	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	233					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TTTTCTAGACCCAGAAGATGT	0.587000													11	43					0	0	0.000673444	0	0
TIAM2	26230	broad.mit.edu	37	6	155451084	155451084	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:155451084C>T	ENST00000461783.3	+	6	2000	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	TIAM2_ENST00000318981.5_Silent_p.L243L|TIAM2_ENST00000456144.1_Silent_p.L243L|TIAM2_ENST00000529824.2_Silent_p.L243L|TIAM2_ENST00000360366.4_Silent_p.L243L|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	243					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGCAGCTCCCTGAGTTCTGA	0.672000													16	28					0	0	0.000308642	0	0
PCLO	27445	broad.mit.edu	37	7	82584652	82584652	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:82584652T>C	ENST00000423517.2	-	5	5954	c.5617A>G	c.(5617-5619)Agc>Ggc	p.S1873G	PCLO_ENST00000333891.8_Missense_Mutation_p.S1873G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1804					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTCCGGGCTTATTTCAAAA	0.383000													44	49					0	0	0.00195071	0	0
TDRD1	56165	broad.mit.edu	37	10	115973123	115973123	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:115973123G>A	ENST00000251864.2	+	15	2003	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	TDRD1_ENST00000369280.1_Missense_Mutation_p.G617E|TDRD1_ENST00000369282.1_Missense_Mutation_p.G617E|TDRD1_ENST00000369281.2_Missense_Mutation_p.G560E|TDRD1_ENST00000422662.1_Missense_Mutation_p.G221E	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	617					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CCATCATTAGGAATTTGGACT	0.348000													32	15					0	0	0.000339439	0	0
RYR1	6261	broad.mit.edu	37	19	39062686	39062686	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:39062686G>A	ENST00000355481.4	+	94	13890	c.13759G>A	c.(13759-13761)Gac>Aac	p.D4587N	RYR1_ENST00000359596.3_Missense_Mutation_p.D4592N|RYR1_ENST00000360985.3_Missense_Mutation_p.D4587N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4592					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGGAGGACGACATGGAAGG	0.602000													17	30					0	0	0.00074312	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													7	39					0	0	0.000157383	0	0
ILVBL	10994	broad.mit.edu	37	19	15234284	15234284	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:15234284G>A	ENST00000263383.3	-	3	378	c.239C>T	c.(238-240)cCg>cTg	p.P80L	ILVBL_ENST00000534378.1_5'UTR|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	80						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGCAGCGGGGAAATGTG	0.637000													17	38					0	0	0.00074312	0	0
IGF1R	3480	broad.mit.edu	37	15	99251218	99251218	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:99251218C>T	ENST00000268035.6	+	2	1133	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_ENST00000558762.1_Silent_p.P174P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	174					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAATAAGCCCCCAAAGGAAT	0.517000													29	51					0	0	0.00127121	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319402	83319402	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:83319402C>T	ENST00000262752.2	-	22	2128	c.2121G>A	c.(2119-2121)atG>atA	p.M707I	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M707I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	707					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						ATGTTGCAACCATTGCTCCCT	0.398000													16	1					0	0	0.000422831	0	0
BAI3	577	broad.mit.edu	37	6	69348628	69348628	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:69348628G>A	ENST00000370598.1	+	3	882	c.61G>A	c.(61-63)Gga>Aga	p.G21R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	21					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)				GGTTATGTTTGGATTTAATGC	0.363000													50	50					0	0	0.000781405	0	0
LANCL1	10314	broad.mit.edu	37	2	211302499	211302499	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:211302499G>A	ENST00000443314.1	-	6	1130	c.788C>T	c.(787-789)cCa>cTa	p.P263L	LANCL1_ENST00000441020.3_Missense_Mutation_p.P263L|LANCL1_ENST00000450366.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.P263L|LANCL1_ENST00000431941.2_Missense_Mutation_p.P263L|AC007970.1_ENST00000420418.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	263						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		ACCTATACATGGAGGGTAATT	0.488000													29	29					0	0	0.00127121	0	0
SGSH	6448	broad.mit.edu	37	17	78184569	78184569	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78184569G>A	ENST00000326317.6	-	8	1277	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	SGSH_ENST00000534910.1_Silent_p.P194P	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	397					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCTGGTCGATGGGAAAGGGCA	0.607000													23	59					0	0	0.000375601	0	0
GPR148	344561	broad.mit.edu	37	2	131487495	131487495	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:131487495C>T	ENST00000309926.4	+	1	853	c.771C>T	c.(769-771)tcC>tcT	p.S257S		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	257						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGGGCTATTCCCGGGCCAGGG	0.572000													27	50					0	0	0.00127121	0	0
GALNT14	79623	broad.mit.edu	37	2	31215711	31215711	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:31215711G>A	ENST00000349752.5	-	2	931	c.292C>T	c.(292-294)Cat>Tat	p.H98Y	GALNT14_ENST00000356174.3_Missense_Mutation_p.H98Y|GALNT14_ENST00000420311.2_Missense_Mutation_p.H63Y|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.H78Y	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	98						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TACCTCAGATGGCGAGTGTCC	0.562000													39	46					0	0	0.000781405	0	0
SPAG17	200162	broad.mit.edu	37	1	118658037	118658037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118658037C>T	ENST00000336338.5	-	4	408	c.343G>A	c.(343-345)Gat>Aat	p.D115N		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	115						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTCCACTATCCATAATTGCT	0.353000													25	39					0	0	0.000878237	0	0
SZRD1	26099	broad.mit.edu	37	1	16721554	16721554	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:16721554C>T	ENST00000401088.4	+	4	553	c.378C>T	c.(376-378)ccC>ccT	p.P126P	SZRD1_ENST00000401089.3_Silent_p.P107P|SZRD1_ENST00000492354.1_Silent_p.P106P|SZRD1_ENST00000375590.3_Silent_p.P106P|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Silent_p.P125P	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1			SUZ RNA binding domain containing 1																		TCTCCCAACCCGAAGACAGCA	0.448000													13	34					0	0	0.000219431	0	0
SDK1	221935	broad.mit.edu	37	7	4152976	4152976	+	Silent	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:4152976C>A	ENST00000404826.2	+	24	3629	c.3490C>A	c.(3490-3492)Cgg>Agg	p.R1164R	SDK1_ENST00000389531.3_Silent_p.R1164R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1164	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1164R(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCGTCTTCCCGGGTCATCCA	0.577000													32	123					8.88839e-20	7.61039e-19	0.000339439	1	0
BAG6	7917	broad.mit.edu	37	6	31612752	31612752	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:31612752G>A	ENST00000404765.2	-	10	1629	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	BAG6_ENST00000375964.6_Missense_Mutation_p.P453L|BAG6_ENST00000439687.2_Missense_Mutation_p.P447L|BAG6_ENST00000362049.6_Missense_Mutation_p.P447L|BAG6_ENST00000211379.5_Missense_Mutation_p.P447L|BAG6_ENST00000375976.4_Missense_Mutation_p.P447L			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	453	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CATGACCACGGGTTCCACACT	0.597000													76	220					0	0	0.000781405	0	0
DNER	92737	broad.mit.edu	37	2	230456304	230456304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:230456304G>A	ENST00000341772.4	-	2	711	c.577C>T	c.(577-579)Caa>Taa	p.Q193*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	193					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ACCTCCACTTGATCCCATTTC	0.433000													5	34					0	0	0.00116845	0	0
DNAH9	1770	broad.mit.edu	37	17	11642241	11642241	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:11642241C>T	ENST00000262442.3	+	29	5927	c.5859C>T	c.(5857-5859)ttC>ttT	p.F1953F	DNAH9_ENST00000454412.2_Silent_p.F1953F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1953	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCAGTGGTTCAGCTTCCTTG	0.478000													14	49					0	0	0.00074312	0	0
FAM86FP	653113	broad.mit.edu	37	12	8386965	8386965	+	RNA	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:8386965C>T	ENST00000427893.2	-	0	801																											TGGCAGGCAGCCAGCCTCCGC	0.602000													6	48					0	0	8.12818e-05	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872983	15872983	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:15872983C>T	ENST00000285670.2	-	7	1013	c.839G>A	c.(838-840)gGa>gAa	p.G280E	SAMSN1_ENST00000400566.1_Missense_Mutation_p.G212E|SAMSN1_ENST00000400564.1_Missense_Mutation_p.G44E	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	212	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTGAAGTTTCCCACTTTATT	0.388000													36	88					0	0	0.00111076	0	0
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:135440236C>T	ENST00000443774.1	-	1	60	c.11G>A	c.(10-12)gGa>gAa	p.G4E	FRG2B_ENST00000425520.1_Missense_Mutation_p.G4E			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	4						nucleus		p.G4V(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522000													22	101					0	0	0.000720815	0	0
ANKRD50	57182	broad.mit.edu	37	4	125593328	125593328	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:125593328T>A	ENST00000504087.1	-	4	2141	c.1104A>T	c.(1102-1104)gaA>gaT	p.E368D	ANKRD50_ENST00000515641.1_Missense_Mutation_p.E189D	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	368										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CGTGATATAATTCCGTTATGG	0.393000													33	113					0	0	0.00111076	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364076	92364076	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:92364076C>T	ENST00000276609.3	+	10	1418	c.1179C>T	c.(1177-1179)gtC>gtT	p.V393V	SLC26A7_ENST00000309536.2_Silent_p.V393V|SLC26A7_ENST00000523719.1_Silent_p.V393V|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	393						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)			TCCTTATAGTCATCTATGCAA	0.338000													72	104					0	0	0.000781405	0	0
SETMAR	6419	broad.mit.edu	37	3	4355398	4355398	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:4355398G>A	ENST00000358065.4	+	2	1040	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.G325S|SETMAR_ENST00000425863.1_Missense_Mutation_p.G186S	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	312	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CAGCATGTGTGGCTCAGCCCC	0.502000								Chromatin Structure					27	15					0	0	0.000586117	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762786	176762786	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176762786T>G	ENST00000367662.3	+	20	6275	c.5111T>G	c.(5110-5112)aTg>aGg	p.M1704R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1704	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGCACTGGATGGAACCTGTC	0.478000													19	65					0	0	0.00121646	0	0
FAM181A	90050	broad.mit.edu	37	14	94394883	94394883	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:94394883C>T	ENST00000267594.5	+	3	745	c.438C>T	c.(436-438)ggC>ggT	p.G146G	FAM181A_ENST00000557719.1_Silent_p.G84G|FAM181A_ENST00000557000.2_Silent_p.G84G|FAM181A_ENST00000556222.1_Silent_p.G84G	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	146										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGATTTGGGCCCTGATTCCA	0.652000													6	4					0	0	8.12818e-05	0	0
CFH	3075	broad.mit.edu	37	1	196715099	196715099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:196715099G>A	ENST00000367429.4	+	21	3703	c.3463G>A	c.(3463-3465)Gga>Aga	p.G1155R		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1155	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGTAGAAATGGACAATGGTC	0.388000													13	41					0	0	0.00074312	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396134	38396134	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:38396134C>T	ENST00000377698.3	+	2	542	c.389C>T	c.(388-390)cCt>cTt	p.P130L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	130					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	AATGGGAAGCCTTTCCAAGAG	0.577000													62	33					0	0	0.000781405	0	0
HERC2	8924	broad.mit.edu	37	15	28389360	28389360	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:28389360T>C	ENST00000261609.7	-	73	11270	c.11162A>G	c.(11161-11163)gAc>gGc	p.D3721G		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3721					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)		GACGCAGCGGTCAGAGAGGAG	0.537000													27	33					0	0	0.00127121	0	0
RPTOR	57521	broad.mit.edu	37	17	78820279	78820279	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78820279C>T	ENST00000306801.3	+	11	1581	c.1219C>T	c.(1219-1221)Ccg>Tcg	p.P407S	RPTOR_ENST00000537330.1_Missense_Mutation_p.P222S|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.P407S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	407					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCAGCACAGCCCGTTCTTCGC	0.637000													30	30					0	0	0.000339439	0	0
MUC17	140453	broad.mit.edu	37	7	100674925	100674925	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:100674925C>T	ENST00000306151.4	+	3	292	c.228C>T	c.(226-228)gtC>gtT	p.V76V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	76						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTACAAATGTCGTGGAGCCAA	0.453000													42	18					0	0	0.000781405	0	0
AGO1	26523	broad.mit.edu	37	1	36360862	36360862	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:36360862C>T	ENST00000373204.4	+	8	1225	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	AGO1_ENST00000373206.1_Missense_Mutation_p.P263S	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TACCTACCTTCCCCTAGAGGT	0.443000													21	18					0	0	0.000295444	0	0
USH2A	7399	broad.mit.edu	37	1	216040470	216040470	+	Silent	SNP	C	C	T	rs139348606		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:216040470C>T	ENST00000366943.2	-	44	9110	c.8724G>A	c.(8722-8724)gtG>gtA	p.V2908V	USH2A_ENST00000307340.3_Silent_p.V2908V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2908	Fibronectin type-III 15.				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)		GTGTAAAACCCACACTGTTGT	0.403000										HNSCC(13;0.011)			11	42					0	0	0.000978159	0	0
SLAMF1	6504	broad.mit.edu	37	1	160582293	160582293	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:160582293G>A	ENST00000302035.6	-	6	1291	c.942C>T	c.(940-942)gtC>gtT	p.V314V	SLAMF1_ENST00000235739.5_Silent_p.V284V|SLAMF1_ENST00000538290.1_3'UTR	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	314					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGACTCTGGGACAGGCTCTG	0.483000													14	21					0	0	0.000958276	0	0
PTPRK	5796	broad.mit.edu	37	6	128403618	128403618	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:128403618G>A	ENST00000368227.3	-	10	2107	c.1741C>T	c.(1741-1743)Cca>Tca	p.P581S	PTPRK_ENST00000368207.3_Missense_Mutation_p.P581S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P581S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Missense_Mutation_p.P581S|PTPRK_ENST00000368215.3_Missense_Mutation_p.P581S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P581S|PTPRK_ENST00000368213.5_Missense_Mutation_p.P581S|RP11-103C16.2_ENST00000417390.1_RNA			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	581	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTGTGGCTGGACCAAAGCCT	0.418000													22	54					0	0	0.001512	0	0
ACSF2	80221	broad.mit.edu	37	17	48540791	48540791	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:48540791C>T	ENST00000427954.2	+	9	1042	c.999C>T	c.(997-999)ccC>ccT	p.P333P	ACSF2_ENST00000300441.4_Silent_p.P308P|ACSF2_ENST00000541920.1_Silent_p.P148P|ACSF2_ENST00000502667.1_Silent_p.P295P|ACSF2_ENST00000504392.1_Silent_p.P265P			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	308					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCCCAACCCCCTGTACCATT	0.582000													13	31					0	0	0.00185496	0	0
GRID2	2895	broad.mit.edu	37	4	94411794	94411794	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:94411794G>A	ENST00000282020.4	+	12	2121	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G	GRID2_ENST00000510992.1_Silent_p.G526G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	621					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)	CTACAGGCGGGGAAGTCCCGT	0.423000													23	64					0	0	0.000586117	0	0
UNC93B1	81622	broad.mit.edu	37	11	67770569	67770569	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:67770569G>T	ENST00000227471.2	-	3	394	c.315C>A	c.(313-315)ccC>ccA	p.P105P	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	105					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TGTCGATGTCGGGCAGCCCCA	0.622000													5	20					0.00116845	0.00956495	0.00116845	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906414	13906414	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:13906414C>T	ENST00000279593.3	-	3	1056	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	283					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCATTCATCATATGATACA	0.547000													9	31					0	0	0.000274275	0	0
LINC00969	440993	broad.mit.edu	37	3	195395415	195395415	+	RNA	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:195395415C>T	ENST00000445430.1	+	0	822																											ACTTGAGCTGCACGTCTGCCC	0.587000													5	12					0	0	0.00116845	0	0
COL3A1	1281	broad.mit.edu	37	2	189855034	189855034	+	Splice_Site	SNP	G	G	A	rs121912927		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:189855034G>A	ENST00000304636.3	+	10	916	c.744_splice	c.e10-1	p.G249_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G249_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	249	Triple-helical region.		G -> D (in EDS4).|G -> V (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TATTTTTAGGGTATCAAAGGT	0.328000													14	19					0	0	0.000566183	0	0
MOGS	7841	broad.mit.edu	37	2	74689941	74689941	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:74689941G>A	ENST00000233616.4	-	4	1137	c.975C>T	c.(973-975)acC>acT	p.T325T	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.T219T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	325					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GAATTTTCAGGGTCACCTGCT	0.567000													51	103					0	0	0.000781405	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169104	50169104	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:50169104C>T	ENST00000246785.3	+	1	282	c.24C>T	c.(22-24)ttC>ttT	p.F8F	IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000597198.1_5'UTR|BCL2L12_ENST00000246784.3_Silent_p.F8F|BCL2L12_ENST00000441864.2_Silent_p.F8F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	8					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		CTGGGCTGTTCCCGCCCCTAT	0.542000													40	27					0	0	0.000589545	0	0
ASH1L	55870	broad.mit.edu	37	1	155330170	155330170	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:155330170G>A	ENST00000368346.3	-	13	7371	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L	ASH1L_ENST00000392403.3_Silent_p.L2239L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2244	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TAAGAGCATAGAGTCCAATCC	0.363000													29	48					0	0	0.00058488	0	0
CDKN2A	1029	broad.mit.edu	37	9	21968242	21968242	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:21968242C>T	ENST00000579755.1	-	3	793		c.e3-1		CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000578845.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(6)|p.0(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)		TCGGGGATGTCTGCAGAGGGC	0.542000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			59	38					0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27097779	27097779	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:27097779C>T	ENST00000324856.7	+	12	3739	c.3368C>T	c.(3367-3369)tCc>tTc	p.S1123F	ARID1A_ENST00000374152.2_Missense_Mutation_p.S740F|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1123F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1123					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTGCTGATTCCAAGAAGTCC	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								7	24					0	0	0.000157383	0	0
COL21A1	81578	broad.mit.edu	37	6	55990387	55990387	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:55990387G>A	ENST00000244728.5	-	14	2025	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	COL21A1_ENST00000535941.1_Missense_Mutation_p.S543L|COL21A1_ENST00000370819.1_Missense_Mutation_p.S540L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	543	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATCCAGGTGATCCTTTGTC	0.284000													11	19					0	0	0.00185496	0	0
SLC26A9	115019	broad.mit.edu	37	1	205886434	205886434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:205886434G>A	ENST00000367135.3	-	20	2418	c.2305C>T	c.(2305-2307)Cgc>Tgc	p.R769C	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R769C|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R769C	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	769						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGTAGCTGCGAATGTCCTCC	0.577000													42	118					0	0	0.000781405	0	0
C20orf26	26074	broad.mit.edu	37	20	20037347	20037347	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:20037347G>A	ENST00000245957.5	+	2	126	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	C20orf26_ENST00000377306.1_Missense_Mutation_p.R17Q|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.R17Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	17										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)		GTTCATTGCCGAAGAACAGAA	0.348000													24	74					0	0	0.000586117	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24261580	24261580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:24261580G>A	ENST00000538205.1	+	14	1695	c.1148G>A	c.(1147-1149)gGa>gAa	p.G383E	ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G462E|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G383E|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	462	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GATTGCGGAGGAGATGCTCCA	0.428000													19	30					0	0	0.00152264	0	0
FAT3	120114	broad.mit.edu	37	11	92525958	92525958	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:92525958G>A	ENST00000298047.6	+	8	4654	c.4637G>A	c.(4636-4638)cGa>cAa	p.R1546Q	FAT3_ENST00000409404.2_Missense_Mutation_p.R1546Q|FAT3_ENST00000525166.1_Missense_Mutation_p.R1396Q			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1546	Cadherin 14.				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)				TTTCCTTATCGAAGAAACTTG	0.418000										TCGA Ovarian(4;0.039)			108	297					0	0	0.000781405	0	0
PER3	8863	broad.mit.edu	37	1	7863183	7863183	+	Missense_Mutation	SNP	C	C	T	rs145870917		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:7863183C>T	ENST00000377532.3	+	8	1173	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	PER3_ENST00000361923.2_Missense_Mutation_p.R316C|PER3_ENST00000377541.1_Missense_Mutation_p.R316C			P56645	PER3_HUMAN	period circadian clock 3	316	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGATCGTTCTCTGAT	0.428000													28	108					0	0	0.000409698	0	0
DYSF	8291	broad.mit.edu	37	2	71839847	71839847	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:71839847C>T	ENST00000258104.3	+	39	4521	c.4244C>T	c.(4243-4245)cCt>cTt	p.P1415L	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Missense_Mutation_p.P1415L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1416L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1432L|DYSF_ENST00000409582.3_Missense_Mutation_p.P1432L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1433L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1447L|DYSF_ENST00000410020.3_Missense_Mutation_p.P1433L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1402L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1416L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1446L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1415						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						GGCCGCCGGCCTGTGGTGGGC	0.647000													12	28					0	0	0.000219431	0	0
OR10A2	341276	broad.mit.edu	37	11	6891546	6891546	+	Silent	SNP	C	C	T	rs144699545		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:6891546C>T	ENST00000307322.4	+	1	623	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTACGCCATCGTCGGAACCA	0.517000													31	114					0	0	0.000491102	0	0
MYOCD	93649	broad.mit.edu	37	17	12666495	12666495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:12666495C>T	ENST00000425538.1	+	14	2695	c.2495C>T	c.(2494-2496)tCc>tTc	p.S832F	MYOCD_ENST00000343344.4_Missense_Mutation_p.S784F|RP11-1090M7.1_ENST00000584772.1_RNA	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	784					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCTCGGCTTCCTTTGAACAA	0.507000													36	40					0	0	0.00148497	0	0
RFTN1	23180	broad.mit.edu	37	3	16450885	16450885	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:16450885C>T	ENST00000334133.4	-	4	710	c.438G>A	c.(436-438)aaG>aaA	p.K146K	RFTN1_ENST00000432519.1_Silent_p.K110K	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	146						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGCTCACCTTCTTAATGAACT	0.478000													18	12					0	0	0.00152264	0	0
CFTR	1080	broad.mit.edu	37	7	117149106	117149106	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:117149106G>T	ENST00000003084.6	+	3	315	c.183G>T	c.(181-183)ctG>ctT	p.L61L	CFTR_ENST00000454343.1_Silent_p.L61L	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	61					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	ATAGAGAGCTGGCTTCAAAGA	0.343000									Cystic Fibrosis				6	172					0.000157383	0.0013018	0.000157383	1	0
TNXB	7148	broad.mit.edu	37	6	32065092	32065092	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:32065092G>A	ENST00000375244.3	-	3	739	c.538C>T	c.(538-540)Cca>Tca	p.P180S	TNXB_ENST00000375247.2_Missense_Mutation_p.P180S|TNXB_ENST00000479795.1_Missense_Mutation_p.P180S			P22105	TENX_HUMAN	tenascin XB	180					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGAGGGTGGGGAAGAGGGA	0.632000													95	79					0	0	0.000781405	0	0
BCKDK	10295	broad.mit.edu	37	16	31121091	31121091	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:31121091C>T	ENST00000394951.1	+	5	985	c.362C>T	c.(361-363)aCc>aTc	p.T121I	BCKDK_ENST00000394950.3_Missense_Mutation_p.T121I|BCKDK_ENST00000219794.6_Missense_Mutation_p.T121I|BCKDK_ENST00000287507.3_Missense_Mutation_p.T121I			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	121					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGCAACCCCACCATACTGCAC	0.592000													9	27					0	0	0.000442599	0	0
FAM13C	220965	broad.mit.edu	37	10	61028361	61028361	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:61028361C>T	ENST00000373867.3	-	9	1110	c.645G>A	c.(643-645)cgG>cgA	p.R215R	FAM13C_ENST00000468840.2_Silent_p.R215R|FAM13C_ENST00000435852.2_Silent_p.R298R|FAM13C_ENST00000277705.6_Silent_p.R319R|FAM13C_ENST00000373868.2_Silent_p.R298R|FAM13C_ENST00000442566.3_Silent_p.R319R|FAM13C_ENST00000419214.2_Silent_p.R298R|FAM13C_ENST00000422313.2_Silent_p.R298R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	298										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGAATTTTCCGCTTGAGGC	0.502000													17	10					0	0	0.000422831	0	0
PTPRF	5792	broad.mit.edu	37	1	44072625	44072625	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:44072625C>T	ENST00000359947.4	+	21	4183	c.3843C>T	c.(3841-3843)atC>atT	p.I1281I	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.I629I|PTPRF_ENST00000372413.3_Silent_p.I1272I|PTPRF_ENST00000438120.1_Silent_p.I1272I|PTPRF_ENST00000372414.3_Silent_p.I1281I	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1281					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCATCGCCATCCTCTTGTTCA	0.627000													14	61					0	0	0.00152264	0	0
SLC39A11	201266	broad.mit.edu	37	17	70644968	70644968	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:70644968G>A	ENST00000542342.2	-	9	1012	c.924C>T	c.(922-924)gaC>gaT	p.D308D	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Silent_p.D301D	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	308					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GGATGATGTCGTCCATGACCA	0.617000													6	16					0	0	0.000274275	0	0
KLK15	55554	broad.mit.edu	37	19	51330151	51330151	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:51330151C>T	ENST00000326856.4	-	4	590	c.461G>A	c.(460-462)gGg>gAg	p.G154E	KLK15_ENST00000596931.1_Missense_Mutation_p.G154E|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.G155E|KLK15_ENST00000598239.1_Missense_Mutation_p.G155E	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	155	Peptidase S1.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).	proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CCGGGGGCTCCCAGCGGTCCC	0.692000													15	5					0	0	0.000308642	0	0
LOC100129781	100129781	broad.mit.edu	37	16	14397839	14397839	+	RNA	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:14397839G>A	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							CTCAGAATCGGGGTTTTGAGG	0.562000													63	78					0	0	0.000781405	0	0
PGC	5225	broad.mit.edu	37	6	41704716	41704716	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:41704716G>A	ENST00000373025.3	-	9	1103	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	347					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			AGGTGGGCTCGACTCCCACGG	0.572000													12	39					0	0	0.000219431	0	0
CALCB	797	broad.mit.edu	37	11	15096275	15096275	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:15096275G>A	ENST00000523376.1	+	7	1306	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	CALCB_ENST00000533448.1_Missense_Mutation_p.R4Q|CALCB_ENST00000324229.6_Missense_Mutation_p.R4Q			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	4					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						ATGGGTTTCCGGAAGTTCTCC	0.592000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	30					0	0	0.000978159	0	0
SERTAD4	56256	broad.mit.edu	37	1	210414925	210414925	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:210414925G>A	ENST00000367012.3	+	4	544	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	105	SERTA.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TTTGAGGAACGAGCCCACATC	0.328000													31	46					0	0	0.00058488	0	0
PLVAP	83483	broad.mit.edu	37	19	17476671	17476671	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:17476671C>T	ENST00000252590.4	-	3	664	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	201						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGGGTTTTCACGCATTCAA	0.557000													11	37					0	0	0.000978159	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517880	158517880	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:158517880G>A	ENST00000302617.3	-	1	15	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTACTTCCAGAATTATGGTG	0.448000													37	48					0	0	0.000437636	0	0
MMP16	4325	broad.mit.edu	37	8	89128811	89128811	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:89128811G>A	ENST00000286614.6	-	6	1289	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	336					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GTTTGGCTCCGGGATAGGAGG	0.498000													12	78					0	0	0.00136819	0	0
CCDC148	130940	broad.mit.edu	37	2	159028745	159028745	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:159028745G>A	ENST00000283233.5	-	14	1969	c.1656C>T	c.(1654-1656)ttC>ttT	p.F552F	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Silent_p.F561F	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	552										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTGCTAACTCGAAGCGAAGTC	0.313000													30	46					0	0	0.00178596	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072881	74072881	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:74072881G>A	ENST00000370367.3	+	2	286	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CACGTGAATCGATTGGACCCT	0.572000													30	30					0	0	0.000409698	0	0
PLS3	5358	broad.mit.edu	37	X	114871204	114871204	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:114871204C>T	ENST00000420625.2	+	8	939	c.805C>T	c.(805-807)Cca>Tca	p.P269S	PLS3_ENST00000355899.3_Missense_Mutation_p.P269S|PLS3_ENST00000537301.1_Missense_Mutation_p.P247S|PLS3_ENST00000539310.1_Missense_Mutation_p.P224S|PLS3_ENST00000289290.3_Missense_Mutation_p.P224S	NM_001136025.3|NM_001172335.1	NP_001129497.1|NP_001165806.1	P13797	PLST_HUMAN	plastin 3	269	Actin-binding 1.|CH 2.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GAAATTGTCTCCAGAAGAGCT	0.383000													104	18					0	0	0.000781405	0	0
NPHP1	4867	broad.mit.edu	37	2	110935991	110935991	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:110935991G>A	ENST00000418527.1	-	4	368	c.338C>T	c.(337-339)tCc>tTc	p.S113F	NPHP1_ENST00000316534.4_Intron|NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000445609.2_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000393272.3_Intron			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	0					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						AGGTAGAAAGGAAGCATACTC	0.338000													45	80					0	0	0.000781405	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417712	150417712	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:150417712T>A	ENST00000307194.5	+	3	760	c.620T>A	c.(619-621)aTg>aAg	p.M207K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCTGGGGATGGTCGAGGGC	0.687000													6	16					0	0	0.00116845	0	0
EBF1	1879	broad.mit.edu	37	5	158250326	158250326	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:158250326C>T	ENST00000313708.6	-	8	919		c.e8-1		EBF1_ENST00000517373.1_Splice_Site|EBF1_ENST00000518836.1_Splice_Site|EBF1_ENST00000380654.4_Splice_Site	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1						multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACACCACGACCTGGAGACATA	0.413000			T	HMGA2	lipoma								12	1					0	0	0.000308642	0	0
DOCK10	55619	broad.mit.edu	37	2	225781460	225781460	+	Silent	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:225781460T>A	ENST00000409592.3	-	3	380	c.267A>T	c.(265-267)acA>acT	p.T89T	DOCK10_ENST00000258390.7_Silent_p.T95T|DOCK10_ENST00000474102.1_5'UTR			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	95							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTCAGGTACTGTTGAGTACA	0.443000													8	13					0	0	0.000274275	0	0
CD163	9332	broad.mit.edu	37	12	7639582	7639582	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:7639582C>T	ENST00000359156.4	-	9	2253	c.2050_splice	c.e9-1	p.G684_splice	CD163_ENST00000396620.3_Splice_Site_p.G717_splice|CD163_ENST00000432237.2_Splice_Site_p.G684_splice|CD163_ENST00000541972.1_Splice_Site_p.G672_splice	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	684					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGACTGGTTTCCTGCAAACAC	0.458000													18	19					0	0	0.00074312	0	0
LUZP2	338645	broad.mit.edu	37	11	24753676	24753676	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:24753676G>A	ENST00000533227.1	+	0	222				LUZP2_ENST00000336930.6_Missense_Mutation_p.D65N|LUZP2_ENST00000531187.1_3'UTR	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTAAAAAACGATGAGCAGTC	0.338000													11	11					0	0	0.00185496	0	0
CAAP1	79886	broad.mit.edu	37	9	26842533	26842533	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:26842533G>A	ENST00000333916.5	-	6	940	c.852C>T	c.(850-852)gtC>gtT	p.V284V	CAAP1_ENST00000520187.1_3'UTR|CAAP1_ENST00000535437.1_Silent_p.V139V	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	284																	CTTCACTTTGGACTGTATTTT	0.458000													86	73					0	0	0.000781405	0	0
UTP23	84294	broad.mit.edu	37	8	117778754	117778754	+	Translation_Start_Site	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:117778754G>A	ENST00000309822.2	+	0	13				UTP23_ENST00000357148.3_De_novo_Start_OutOfFrame	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)						rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						TTCATTTCCGGGTGAAACTGG	0.602000											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	10					0	0	8.12818e-05	0	0
ATP13A2	23400	broad.mit.edu	37	1	17327006	17327006	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:17327006G>A	ENST00000452699.1	-	9	903	c.714C>T	c.(712-714)ttC>ttT	p.F238F	ATP13A2_ENST00000341676.5_Silent_p.F238F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.F243F	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	243					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGAAGGCCTGGAACCCATAGT	0.647000													10	13					0	0	0.00185496	0	0
SUCO	51430	broad.mit.edu	37	1	172558496	172558496	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:172558496C>T	ENST00000367723.3	+	17	2835	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	SUCO_ENST00000263688.3_Missense_Mutation_p.S752F	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		GTATCTGAGTCTGTTGAATAT	0.388000													33	36					0	0	0.000692331	0	0
GLT1D1	144423	broad.mit.edu	37	12	129442128	129442128	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:129442128C>T	ENST00000442111.2	+	11	907	c.819C>T	c.(817-819)atC>atT	p.I273I	GLT1D1_ENST00000542193.1_Silent_p.I190I|GLT1D1_ENST00000281703.6_Silent_p.I193I|GLT1D1_ENST00000537468.1_Silent_p.I278I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	273					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CCAGGAACATCCCCGGGAATG	0.498000													5	32					0	0	0.000602214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526135	176526135	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176526135C>T	ENST00000367662.3	+	2	1841	c.677C>T	c.(676-678)tCc>tTc	p.S226F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.S226F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	226					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAAGCATTCCCTTAAACAC	0.547000													51	57					0	0	0.000781405	0	0
CLHC1	130162	broad.mit.edu	37	2	55445100	55445100	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:55445100A>G	ENST00000401408.1	-	4	557	c.212T>C	c.(211-213)cTt>cCt	p.L71P	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_5'UTR|CLHC1_ENST00000406437.2_Intron|CLHC1_ENST00000407122.1_Missense_Mutation_p.L71P	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		GATTGAAGTAAGAATGGATTT	0.313000													19	48					0	0	0.00188189	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408500	105408500	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:105408500C>T	ENST00000333244.5	-	7	13407	c.13288G>A	c.(13288-13290)Gag>Aag	p.E4430K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4430						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGTCCACCTCCATGCTGGGC	0.607000													47	14					0	0	0.000589545	0	0
TTN	7273	broad.mit.edu	37	2	179606177	179606177	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179606177G>A	ENST00000589042.1	-	48	12007	c.11783C>T	c.(11782-11784)tCt>tTt	p.S3928F	TTN_ENST00000591111.1_Missense_Mutation_p.S3611F|TTN_ENST00000342175.6_Missense_Mutation_p.S3757F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3690F|TTN_ENST00000460472.2_Missense_Mutation_p.S3565F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3611							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)			CTTTTCCAGAGATTTTGCCAC	0.428000													87	76					0	0	0.000781405	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171971	42171971	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:42171971G>A	ENST00000320955.6	-	15	3130	c.2903C>T	c.(2902-2904)tCc>tTc	p.S968F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	968					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATTTGTGTGGAGTTCCCAGG	0.587000													34	33					0	0	0.00058488	0	0
PREX2	80243	broad.mit.edu	37	8	69129884	69129884	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:69129884C>T	ENST00000288368.4	+	38	4915	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1546					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCAAGCCATCATTCTGGCCA	0.547000													10	22					0	0	0.000978159	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774328	140774328	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:140774328G>A	ENST00000398604.2	+	1	1948	c.1948G>A	c.(1948-1950)Ggc>Agc	p.G650S	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGACCATGGCCAGCCCCC	0.667000													20	9					0	0	0.000375601	0	0
BCL3	602	broad.mit.edu	37	19	45262001	45262001	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:45262001G>T	ENST00000164227.5	+	8	1324	c.1080G>T	c.(1078-1080)ggG>ggT	p.G360G		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	360					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TCCTGAGGGGGAAGGCCACCC	0.642000			T	IGH@	CLL								25	61					3.00307e-07	2.53024e-06	0.001512	1	0
JPH2	57158	broad.mit.edu	37	20	42744480	42744480	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:42744480G>A	ENST00000372980.3	-	4	2707	c.1835C>T	c.(1834-1836)cCc>cTc	p.P612L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	612	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCAGGCTCGGGGCCTCGGAG	0.741000													9	4					0	0	0.000274275	0	0
CALCB	797	broad.mit.edu	37	11	15098881	15098881	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:15098881C>T	ENST00000523376.1	+	9	1569	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CALCB_ENST00000533448.1_Missense_Mutation_p.R92W|CALCB_ENST00000324229.6_Missense_Mutation_p.R92W			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	92					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TGTGACTCATCGGCTGGCAGG	0.567000													15	32					0	0	0.000422831	0	0
NPY4R	5540	broad.mit.edu	37	10	47086833	47086833	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:47086833G>A	ENST00000374312.1	+	3	469	c.50G>A	c.(49-51)gGt>gAt	p.G17D	NPY4R_ENST00000395716.1_Missense_Mutation_p.G17D	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		TCTCCACAAGGTGAAAACAGA	0.483000													22	38					0	0	0.00047179	0	0
KLK3	354	broad.mit.edu	37	19	51361337	51361337	+	Missense_Mutation	SNP	G	G	A	rs138565183	byFrequency	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:51361337G>A	ENST00000360617.3	+	3	259	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.G87S|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.G87S			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	87	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		TGAAGACACAGGCCAGGTATT	0.547000													23	6					0	0	0.000720815	0	0
OR4S2	219431	broad.mit.edu	37	11	55418983	55418983	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:55418983G>A	ENST00000312422.2	+	1	604	c.604G>A	c.(604-606)Ggt>Agt	p.G202S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	202					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)				AGCCAACAGTGGTACCATTGC	0.458000													68	67					0	0	0.000781405	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55381350	55381350	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:55381350G>A	ENST00000398661.2	-	5	570	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	HMGCLL1_ENST00000308161.4_Intron|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.R117C|HMGCLL1_ENST00000428842.1_Intron|HMGCLL1_ENST00000370850.2_Intron|HMGCLL1_ENST00000508459.1_Intron	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	147							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGGATAGCGAACTCCTGGA	0.343000													46	55					0	0	0.000781405	0	0
DENND6B	414918	broad.mit.edu	37	22	50756380	50756380	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:50756380G>A	ENST00000413817.2	-	4	400	c.329C>T	c.(328-330)gCc>gTc	p.A110V		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		CCTGTCGTCGGCATGCCAGGG	0.657000													15	13					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179427744	179427744	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179427744G>T	ENST00000589042.1	-	326	83339	c.83115C>A	c.(83113-83115)ccC>ccA	p.P27705P	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.P26064P|TTN_ENST00000342175.6_Silent_p.P18832P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P25137P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P18765P|TTN_ENST00000460472.2_Silent_p.P18640P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26064	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P18832P(1)|p.P25135P(1)|p.P18765P(1)|p.P18640P(1)|p.P25137P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTAACTTCGGGTTCTGGTC	0.443000													6	131					0.00116845	0.00956495	0.00116845	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953391	140953391	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:140953391G>A	ENST00000298296.1	+	2	258	c.258_splice	c.e2+1	p.K86_splice		NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	86										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CATACTTCAAGGTAAGGACTC	0.537000													26	15					0	0	0.000339439	0	0
PCLO	27445	broad.mit.edu	37	7	82585079	82585079	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:82585079G>A	ENST00000423517.2	-	5	5527	c.5190C>T	c.(5188-5190)tcC>tcT	p.S1730S	PCLO_ENST00000333891.8_Silent_p.S1730S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1661					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATGTAGGGGATGTACCAG	0.498000													53	68					0	0	0.000781405	0	0
CNOT1	23019	broad.mit.edu	37	16	58610468	58610468	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:58610468G>A	ENST00000317147.5	-	14	1935	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R535C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R535C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	535					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATAAGTTGGCGAATTGAGGGA	0.408000													11	32					0	0	0.000673444	0	0
MYT1	4661	broad.mit.edu	37	20	62871117	62871117	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:62871117C>T	ENST00000536311.1	+	22	3543	c.3179C>T	c.(3178-3180)tCc>tTc	p.S1060F	MYT1_ENST00000328439.1_Missense_Mutation_p.S1033F			Q01538	MYT1_HUMAN	myelin transcription factor 1	1033					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCACAGATCTCCTCCATGGAG	0.587000													30	20					0	0	0.000339439	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041332	234041332	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:234041332G>A	ENST00000366618.3	+	2	256	c.111G>A	c.(109-111)caG>caA	p.Q37Q		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCAGCCCCCAGCTCCGGCAGC	0.672000													16	12					0	0	0.000308642	0	0
C11orf45	219833	broad.mit.edu	37	11	128773324	128773324	+	Silent	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:128773324T>C	ENST00000310799.3	-	3	412	c.219A>G	c.(217-219)gtA>gtG	p.V73V	C11orf45_ENST00000524878.1_Silent_p.V73V|KCNJ5_ENST00000338350.4_Intron|KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000530168.1_5'UTR	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	73						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		AGGTTCTGGTTACTATGGCAT	0.552000													12	30					0	0	0.00185496	0	0
FTSJ2	29960	broad.mit.edu	37	7	2275011	2275011	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:2275011G>A	ENST00000242257.8	-	3	515	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	FTSJ2_ENST00000440306.2_3'UTR|FTSJ2_ENST00000486040.1_5'UTR|FTSJ2_ENST00000407040.1_Missense_Mutation_p.R69W	NM_013393.1	NP_037525.1	Q9UI43	RRMJ2_HUMAN	FtsJ RNA methyltransferase homolog 2 (E. coli)	163					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		TCGAGGTCCCGGAACCCTGTG	0.577000													14	30					0	0	0.000308642	0	0
ST3GAL2	6483	broad.mit.edu	37	16	70422379	70422379	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:70422379G>A	ENST00000393640.4	-	3	2711	c.604C>T	c.(604-606)Cct>Tct	p.P202S	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.P202S			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	202					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				GCACTCTCAGGGTACATGAAA	0.592000													11	66					0	0	0.000978159	0	0
PUM1	9698	broad.mit.edu	37	1	31437599	31437599	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:31437599G>A	ENST00000373747.3	-	14	2347	c.2248C>T	c.(2248-2250)Cct>Tct	p.P750S	PUM1_ENST00000423018.2_Missense_Mutation_p.P605S|PUM1_ENST00000373742.2_Missense_Mutation_p.P690S|PUM1_ENST00000257075.5_Missense_Mutation_p.P749S|PUM1_ENST00000373741.4_Missense_Mutation_p.P785S|PUM1_ENST00000440538.2_Missense_Mutation_p.P723S|PUM1_ENST00000426105.2_Missense_Mutation_p.P749S|PUM1_ENST00000424085.2_Missense_Mutation_p.P507S	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	749	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCCTGACTAGGGAGAGGCATG	0.502000													62	67					0	0	0.000781405	0	0
EFHD2	79180	broad.mit.edu	37	1	15752398	15752398	+	Silent	SNP	C	C	T	rs146542005		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:15752398C>T	ENST00000375980.4	+	2	417	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L		NM_024329.5	NP_077305.2	Q96C19	EFHD2_HUMAN	EF-hand domain family, member D2	114	EF-hand 1.					membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCATCGACCTGATGGAGCT	0.542000													19	68					0	0	0.000295444	0	0
TIAM2	26230	broad.mit.edu	37	6	155451067	155451067	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:155451067C>T	ENST00000461783.3	+	6	1983	c.710C>T	c.(709-711)tCc>tTc	p.S237F	TIAM2_ENST00000318981.5_Missense_Mutation_p.S237F|TIAM2_ENST00000456144.1_Missense_Mutation_p.S237F|TIAM2_ENST00000529824.2_Missense_Mutation_p.S237F|TIAM2_ENST00000360366.4_Missense_Mutation_p.S237F|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	237					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CGCCTGCGGTCCAGCAAAGGC	0.652000													14	22					0	0	0.000566183	0	0
HK2	3099	broad.mit.edu	37	2	75101035	75101035	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:75101035A>T	ENST00000290573.2	+	6	1256	c.656A>T	c.(655-657)tAt>tTt	p.Y219F	HK2_ENST00000409174.1_Missense_Mutation_p.Y191F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	219	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ACCTGTGGTTATGATGACCAC	0.532000													6	31					0	0	8.12818e-05	0	0
NOVA1	4857	broad.mit.edu	37	14	26917366	26917366	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:26917366C>T	ENST00000539517.2	-	5	1640	c.1323G>A	c.(1321-1323)ggG>ggA	p.G441G	NOVA1_ENST00000465357.2_Silent_p.G417G|NOVA1_ENST00000267422.7_Silent_p.G319G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	444	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CTAATGTTTTCCCTCCTTTGC	0.433000													17	12					0	0	0.000566183	0	0
CA2	760	broad.mit.edu	37	8	86389385	86389385	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:86389385G>C	ENST00000285379.5	+	6	774	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	182					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CGATCCTCGTGGCCTCCTTCC	0.502000													63	121					0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21229057	21229057	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:21229057G>A	ENST00000233242.1	-	26	10810	c.10683C>T	c.(10681-10683)tcC>tcT	p.S3561S		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3561					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)	GCTCCCAGAGGGAATATATGC	0.463000													216	311					0	0	0.000781405	0	0
TMEM225	338661	broad.mit.edu	37	11	123755310	123755310	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:123755310G>A	ENST00000375026.2	-	2	431	c.215C>T	c.(214-216)tCg>tTg	p.S72L		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	72						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GCCAAGGCTCGACGTCATCAT	0.408000													26	32					0	0	0.000720815	0	0
C15orf52	388115	broad.mit.edu	37	15	40632145	40632145	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:40632145G>A	ENST00000559313.1	-	2	231	c.216C>T	c.(214-216)gcC>gcT	p.A72A	C15orf52_ENST00000557973.1_5'UTR	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	72										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCTTGCGCAGGGCAACTATCC	0.637000													8	33					0	0	0.000442599	0	0
MYLK2	85366	broad.mit.edu	37	20	30418840	30418840	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:30418840G>A	ENST00000375994.2	+	9	1593	c.1320G>A	c.(1318-1320)aaG>aaA	p.K440K	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.K440K			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	440	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGAAGCTGAAGGTGAACTTTG	0.557000													12	44					0	0	0.00136819	0	0
ATXN2	6311	broad.mit.edu	37	12	111956184	111956184	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:111956184G>A	ENST00000377617.3	-	9	1675	c.1514C>T	c.(1513-1515)tCc>tTc	p.S505F	ATXN2_ENST00000389153.4_Missense_Mutation_p.S240F|ATXN2_ENST00000550104.1_Missense_Mutation_p.S505F|ATXN2_ENST00000542287.2_Missense_Mutation_p.S240F|ATXN2_ENST00000535949.1_Missense_Mutation_p.S216F	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	505					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						ACTTCCCCAGGATATGACTTC	0.428000													44	39					0	0	0.000589545	0	0
ESR2	2100	broad.mit.edu	37	14	64699862	64699862	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:64699862G>A	ENST00000341099.4	-	9	2003	c.1586C>T	c.(1585-1587)tCt>tTt	p.S529F	ESR2_ENST00000555278.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.S438F|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	529	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GCGTCACTGAGACTGTGGGTT	0.602000													16	10					0	0	0.000422831	0	0
MYH1	4619	broad.mit.edu	37	17	10404514	10404514	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:10404514C>T	ENST00000226207.5	-	27	3745	c.3651G>A	c.(3649-3651)gtG>gtA	p.V1217V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1217						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTTCTGCTTCACTCGCTGCA	0.532000													29	34					0	0	0.00178596	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:18808853G>A	ENST00000400664.1	+	1	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	460						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGATGAGCGAAAACTACCT	0.642000													30	37					0	0	0.000409698	0	0
LIPI	149998	broad.mit.edu	37	21	15537607	15537607	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr21:15537607C>T	ENST00000344577.2	-	6	926	c.901G>A	c.(901-903)Gat>Aat	p.D301N	LIPI_ENST00000536861.1_Missense_Mutation_p.D280N	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	280					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTCTTGTAATCTTTGTATGAA	0.343000													27	34					0	0	0.000878237	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692629	153692629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:153692629G>A	ENST00000369682.3	+	8	1976	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	601					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCCAGGAGCTCCGAGC	0.701000													5	1					0	0	0.00116845	0	0
PLA2G7	7941	broad.mit.edu	37	6	46684775	46684775	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:46684775G>A	ENST00000274793.7	-	3	364	c.168C>T	c.(166-168)atC>atT	p.I56I	PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000538237.1_Silent_p.I11I|PLA2G7_ENST00000537365.1_Silent_p.I56I	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	56					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	p.I56I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTCCCCGGGGGATTTTAGTTT	0.378000													19	55					0	0	0.00121646	0	0
MXRA5	25878	broad.mit.edu	37	X	3227970	3227970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:3227970C>T	ENST00000217939.6	-	7	8428	c.8274G>A	c.(8272-8274)atG>atA	p.M2758I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2758	Ig-like C2-type 12.					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)				TGGGAATCCCCATAGCCATGC	0.572000													30	6					0	0	0.001512	0	0
PDE4C	5143	broad.mit.edu	37	19	18324186	18324186	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:18324186G>T	ENST00000355502.3	-	17	2471	c.1600C>A	c.(1600-1602)Cga>Aga	p.R534R	PDE4C_ENST00000262805.11_Silent_p.R502R|PDE4C_ENST00000594465.2_Silent_p.R534R|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594617.2_Silent_p.R534R|PDE4C_ENST00000447275.2_Silent_p.R428R|PDE4C_ENST00000539010.1_Silent_p.R303R			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	534					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	ACCTGGATTCGGTCGGAATAG	0.438000													4	35					0.00024832	0.00204864	0.00024832	1	0
C12orf50	160419	broad.mit.edu	37	12	88420737	88420737	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:88420737C>T	ENST00000298699.2	-	2	183	c.3G>A	c.(1-3)atG>atA	p.M1I	C12orf50_ENST00000550553.1_Start_Codon_SNP_p.M1I	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	1										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CCTGCATTTCCATGTGTCTAA	0.388000													20	60					0	0	0.000295444	0	0
CSMD1	64478	broad.mit.edu	37	8	2818684	2818684	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:2818684C>T	ENST00000602557.1	-	63	10239	c.9684G>A	c.(9682-9684)caG>caA	p.Q3228Q	CSMD1_ENST00000602723.1_Silent_p.Q3051Q|CSMD1_ENST00000537824.1_Silent_p.Q3227Q|CSMD1_ENST00000400186.3_Silent_p.Q3051Q|CSMD1_ENST00000520002.1_Silent_p.Q3228Q|CSMD1_ENST00000542608.1_Silent_p.Q3050Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3228	Sushi 27.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAGCTATTCTGTATTCCAA	0.348000													22	33					0	0	0.00106085	0	0
TTLL7	79739	broad.mit.edu	37	1	84383305	84383305	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:84383305G>A	ENST00000260505.8	-	14	1946	c.1569C>T	c.(1567-1569)acC>acT	p.T523T	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	523					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		CTCGAGTCTTGGTAGTTTTTC	0.353000													22	44					0	0	0.000295444	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75377988	75377988	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:75377988G>A	ENST00000555647.1	-	7	914	c.627C>T	c.(625-627)agC>agT	p.S209S	RPS6KL1_ENST00000354625.2_Silent_p.S178S|RPS6KL1_ENST00000358328.4_Silent_p.S209S|RPS6KL1_ENST00000557413.1_Silent_p.S209S			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	209	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		TGGAGTCCTCGCTCACAAAGT	0.607000													16	27					0	0	0.00074312	0	0
C11orf40	143501	broad.mit.edu	37	11	4593511	4593511	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:4593511C>T	ENST00000307616.1	-	3	321	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	108										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAACACGTTCCAGATAGCAA	0.443000													17	20					0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179495873	179495873	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179495873C>A	ENST00000589042.1	-	237	44126	c.43902G>T	c.(43900-43902)aaG>aaT	p.K14634N	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K12993N|TTN_ENST00000342175.6_Missense_Mutation_p.K5761N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K12066N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K5694N|TTN_ENST00000460472.2_Missense_Mutation_p.K5569N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12993	Ig-like 96.						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)			TGCCATCTGCCTTAATAACAG	0.398000													19	63					2.35188e-11	1.99752e-10	0.00074312	1	0
MBOAT2	129642	broad.mit.edu	37	2	9008601	9008601	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:9008601G>A	ENST00000305997.3	-	9	1160	c.962C>T	c.(961-963)tCc>tTc	p.S321F	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	321					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCAAATTGGAAATTAAGTC	0.348000													46	101					0	0	0.000781405	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105632	11105632	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:11105632G>A	ENST00000358026.2	+	9	1832	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	SMARCA4_ENST00000413806.3_Silent_p.K516K|SMARCA4_ENST00000444061.3_Silent_p.K516K|SMARCA4_ENST00000590574.1_Silent_p.K516K|SMARCA4_ENST00000589677.1_Silent_p.K516K|SMARCA4_ENST00000429416.3_Silent_p.K516K|SMARCA4_ENST00000541122.2_Silent_p.K516K|SMARCA4_ENST00000344626.4_Silent_p.K516K|SMARCA4_ENST00000450717.3_Silent_p.K516K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	516	HSA.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGGAGCAGAAGAAAGAGAACG	0.547000			"""F, N, Mis"""		NSCLC								7	11					0	0	0.000442599	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				73	17					0	0	0.000781405	0	0
EXPH5	23086	broad.mit.edu	37	11	108382857	108382857	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:108382857G>A	ENST00000265843.4	-	6	3487	c.3377C>T	c.(3376-3378)cCc>cTc	p.P1126L	EXPH5_ENST00000525344.1_Missense_Mutation_p.P1119L|EXPH5_ENST00000428840.1_Missense_Mutation_p.P1050L|EXPH5_ENST00000443411.1_Missense_Mutation_p.P938L	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1126					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTCCCCTGAGGGACATGACAT	0.483000													27	35					0	0	0.00106085	0	0
CFHR4	10877	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:196887394G>A	ENST00000367416.2	+	10	1729	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G285E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTTAAAAGGAAAAAGTGAC	0.279000													19	61					0	0	0.00188189	0	0
PDE3A	5139	broad.mit.edu	37	12	20766445	20766445	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:20766445C>T	ENST00000359062.3	+	3	1120	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	360				HGLITDLLADPSLPPNVC -> TASLPTSWQTLLFHQTCA (in Ref. 3 and 4).	lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TTACCGACCTCCTGGCAGACC	0.552000													19	67					0	0	0.000958276	0	0
ARHGEF28	64283	broad.mit.edu	37	5	73166004	73166004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:73166004G>A	ENST00000545377.1	+	21	2712	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D533N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D846N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D846N|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D846N|ARHGEF28_ENST00000426542.2_Missense_Mutation_p.D846N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D846N	NM_001080479.2	NP_001073948.2			Rho guanine nucleotide exchange factor (GEF) 28																		GCAGGAGAAGGATGTCATCAA	0.438000													18	8					0	0	0.000566183	0	0
SIRT5	23408	broad.mit.edu	37	6	13592077	13592077	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:13592077C>T	ENST00000606117.1	+	5	722	c.426C>T	c.(424-426)atC>atT	p.I142I	SIRT5_ENST00000397350.2_Silent_p.I34I|SIRT5_ENST00000379262.4_Silent_p.I142I|SIRT5_ENST00000359782.3_Silent_p.I142I	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	142	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	CCCAGAACATCGATGAGCTGC	0.622000													21	22					0	0	0.000586117	0	0
HOMER2	9455	broad.mit.edu	37	15	83523433	83523433	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:83523433G>A	ENST00000304231.8	-	6	839	c.647C>T	c.(646-648)tCc>tTc	p.S216F	HOMER2_ENST00000426485.1_Intron|HOMER2_ENST00000399166.2_Intron|HOMER2_ENST00000450735.2_Missense_Mutation_p.S205F	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	216					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						ACGGCAGATGGAGAACTGCCT	0.627000													7	15					0	0	0.000157383	0	0
AHNAK	79026	broad.mit.edu	37	11	62300296	62300296	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:62300296G>A	ENST00000378024.4	-	5	1867	c.1593C>T	c.(1591-1593)ggC>ggT	p.G531G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	531					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCACTTGAGGGCCTTTAACAT	0.507000													37	76					0	0	0.00111076	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43826984	43826984	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:43826984G>A	ENST00000420765.1	-	31	4372	c.4190C>T	c.(4189-4191)aCt>aTt	p.T1397I	PPIP5K1_ENST00000334933.4_Missense_Mutation_p.T1372I|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.T1373I|PPIP5K1_ENST00000381885.1_Missense_Mutation_p.T1393I|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.T1372I|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.T1370I|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.T1370I|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.T1397I	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1397					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						GATCGCAGAAGTCTCCTGGGC	0.547000													24	50					0	0	0.000295444	0	0
POF1B	79983	broad.mit.edu	37	X	84561241	84561241	+	Silent	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:84561241T>C	ENST00000262753.4	-	12	1408	c.1263A>G	c.(1261-1263)gaA>gaG	p.E421E	POF1B_ENST00000373145.3_Silent_p.E421E	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	421							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AATATTCCAGTTCTTTTAGTC	0.338000													72	16					0	0	0.000781405	0	0
MRI1	84245	broad.mit.edu	37	19	13875469	13875469	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:13875469A>T	ENST00000319545.8	+	1	124	c.67A>T	c.(67-69)Aag>Tag	p.K23*	MRI1_ENST00000040663.6_Nonsense_Mutation_p.K23*	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	23					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						GCTGCTGCCCAAGCAGAGCCG	0.726000													15	25					0	0	0.000308642	0	0
GPR152	390212	broad.mit.edu	37	11	67219614	67219614	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:67219614C>T	ENST00000312457.2	-	1	586	c.582G>A	c.(580-582)agG>agA	p.R194R		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCTCCAGCATCCTCAGCGACA	0.657000													10	30					0	0	0.000978159	0	0
PRKAA2	5563	broad.mit.edu	37	1	57159492	57159492	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:57159492C>T	ENST00000371244.4	+	5	596	c.530C>T	c.(529-531)cCa>cTa	p.P177L		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	177	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGCGGATCTCCAAATTATGCA	0.308000													95	129					0	0	0.000781405	0	0
APC2	10297	broad.mit.edu	37	19	1466377	1466377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:1466377G>A	ENST00000535453.1	+	14	4790	c.3077G>A	c.(3076-3078)cGg>cAg	p.R1026Q	APC2_ENST00000233607.2_Missense_Mutation_p.R1026Q|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R752Q			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1026					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGCCCGGAAGCAGGCC	0.667000													6	5					0	0	8.12818e-05	0	0
OR5P2	120065	broad.mit.edu	37	11	7818447	7818447	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:7818447A>G	ENST00000329434.2	-	1	73	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAGGATGAACCCCGTCAGA	0.413000													6	48					0	0	8.12818e-05	0	0
C1R	715	broad.mit.edu	37	12	7187920	7187920	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:7187920G>T	ENST00000542285.1	-	11	2027	c.1878C>A	c.(1876-1878)atC>atA	p.I626I				P00736	C1R_HUMAN	complement component 1, r subcomponent	678	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTGCACCCGATGCCCCAGG	0.577000													13	31					1.3612e-06	1.14384e-05	0.000308642	1	0
HGF	3082	broad.mit.edu	37	7	81392179	81392179	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:81392179C>T	ENST00000222390.5	-	2	324	c.98G>A	c.(97-99)aGg>aAg	p.R33K	HGF_ENST00000423064.2_Missense_Mutation_p.R33K|HGF_ENST00000444829.2_Missense_Mutation_p.R33K|HGF_ENST00000453411.1_Missense_Mutation_p.R33K|HGF_ENST00000457544.2_Missense_Mutation_p.R33K|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000354224.6_Missense_Mutation_p.R33K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	33				QR -> HK (in Ref. 2; CAA34387).	epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCTTCTTTTCCTTTGTCCCTC	0.269000													9	27					0	0	0.000274275	0	0
JADE2	23338	broad.mit.edu	37	5	133914319	133914319	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:133914319C>T	ENST00000395003.1	+	11	1864	c.1685C>T	c.(1684-1686)cCa>cTa	p.P562L	PHF15_ENST00000361895.2_Missense_Mutation_p.P563L|PHF15_ENST00000282605.4_Missense_Mutation_p.P606L|PHF15_ENST00000402835.1_3'UTR	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		562					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCTGCTCCAGGGCTGCTG	0.617000													14	28					0	0	0.000422831	0	0
PFKFB2	5208	broad.mit.edu	37	1	207240856	207240856	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:207240856C>T	ENST00000367080.3	+	9	769	c.645C>T	c.(643-645)ttC>ttT	p.F215F	PFKFB2_ENST00000545806.1_Silent_p.F182F|PFKFB2_ENST00000367079.2_Silent_p.F215F|PFKFB2_ENST00000411990.2_Silent_p.F117F|PFKFB2_ENST00000541914.1_Silent_p.F29F	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	215	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					ATCTTTCTTTCATCAAGGTGA	0.428000													27	36					0	0	0.001512	0	0
DEFB115	245929	broad.mit.edu	37	20	29847382	29847382	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:29847382G>A	ENST00000400552.1	+	2	214	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_001037730.1	NP_001032819.1	Q30KQ5	DB115_HUMAN	defensin, beta 115	72					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TAAAGAAAAGGATAAACTATC	0.348000													9	25					0	0	0.000274275	0	0
GLYAT	10249	broad.mit.edu	37	11	58478166	58478166	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:58478166T>C	ENST00000344743.3	-	5	526	c.385A>G	c.(385-387)Aca>Gca	p.T129A	GLYAT_ENST00000529732.1_Missense_Mutation_p.T129A|GLYAT_ENST00000278400.3_Missense_Mutation_p.T129A	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	129					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)	ATGCGTTGTGTTTGTTTGACT	0.423000													27	96					0	0	0.000878237	0	0
BCL6B	255877	broad.mit.edu	37	17	6930932	6930932	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:6930932G>A	ENST00000293805.5	+	9	1526	c.1434G>A	c.(1432-1434)ggG>ggA	p.G478G		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	478						nucleus	zinc ion binding			skin(1)	1						TTCTCGGGGGGCCCTAGCTGA	0.622000													5	42					0	0	0.000602214	0	0
CNTN4	152330	broad.mit.edu	37	3	2908472	2908472	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:2908472C>T	ENST00000397461.1	+	7	875	c.491C>T	c.(490-492)tCc>tTc	p.S164F	CNTN4_ENST00000418658.1_Missense_Mutation_p.S164F|CNTN4_ENST00000427331.1_Missense_Mutation_p.S164F|CNTN4_ENST00000358480.3_5'UTR	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	164	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S164Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GAATACCCTTCCTATCAGGAT	0.383000													42	36					0	0	0.000781405	0	0
BRIP1	83990	broad.mit.edu	37	17	59924520	59924520	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:59924520C>T	ENST00000259008.2	-	6	836	c.569G>A	c.(568-570)gGa>gAa	p.G190E	BRIP1_ENST00000577598.1_Missense_Mutation_p.G190E	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	190	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TACAGTCTTTCCTGAATCAAC	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					24	47					0	0	0.000295444	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886793	45886793	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:45886793G>A	ENST00000007414.3	-	19	2123	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	OSBPL7_ENST00000392507.3_Silent_p.V644V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	644					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GACCACTCAGGACATTGTGAA	0.547000													26	19					0	0	0.000339439	0	0
SYNE1	23345	broad.mit.edu	37	6	152847286	152847286	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:152847286C>T	ENST00000367255.5	-	5	755	c.154G>A	c.(154-156)Gat>Aat	p.D52N	SYNE1_ENST00000466159.2_Missense_Mutation_p.D52N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D52N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D52N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D52N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D52N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D52N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D52N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D52N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	52	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAAAAAGATCGTCCACCACC	0.423000										HNSCC(10;0.0054)			20	36					0	0	0.00152264	0	0
OR52H1	390067	broad.mit.edu	37	11	5566278	5566278	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:5566278C>T	ENST00000322653.4	-	1	501	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R159Q(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGAAGCTTCGAAAGGAGAT	0.463000													16	28					0	0	0.000422831	0	0
TRIM15	89870	broad.mit.edu	37	6	30131816	30131816	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:30131816C>T	ENST00000376694.4	+	1	824	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	119					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGTGGGGTTCCTGGACGAGGC	0.587000													10	25					0	0	0.00136819	0	0
DECR2	26063	broad.mit.edu	37	16	461434	461434	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:461434C>T	ENST00000219481.5	+	8	873	c.735C>T	c.(733-735)atC>atT	p.I245I	DECR2_ENST00000424398.2_Silent_p.I233I|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	245						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AGACCGAGATCGCCCACAGCG	0.677000													9	28					0	0	0.000442599	0	0
DNAH8	1769	broad.mit.edu	37	6	38867567	38867567	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:38867567C>T	ENST00000359357.3	+	60	8682	c.8428C>T	c.(8428-8430)Cga>Tga	p.R2810*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R3027*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2774*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACGAATAATTCGAACGTCGTG	0.368000													12	35					0	0	0.000308642	0	0
DDX39B	7919	broad.mit.edu	37	6	31504375	31504375	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:31504375G>A	ENST00000417556.2	-	6	1193	c.563C>T	c.(562-564)cCa>cTa	p.P188L	DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000396172.1_Missense_Mutation_p.P173L|DDX39B_ENST00000458640.1_Missense_Mutation_p.P173L|DDX39B_ENST00000415382.2_Missense_Mutation_p.P95L|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.P173L|DDX39B_ENST00000453105.2_Missense_Mutation_p.P126L			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	173	Helicase ATP-binding.				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GATACGGCCTGGAGTCCCCAC	0.473000													22	51					0	0	0.00188189	0	0
AHSP	51327	broad.mit.edu	37	16	31539946	31539946	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:31539946C>T	ENST00000302312.4	+	3	346	c.243C>T	c.(241-243)ttC>ttT	p.F81F	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	81					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCAACCCTTTCCTGGCCAAGT	0.587000													12	15					0	0	0.000308642	0	0
ITGB4	3691	broad.mit.edu	37	17	73736931	73736931	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:73736931C>T	ENST00000200181.3	+	22	2795	c.2609_splice	c.e22+1	p.R870_splice	ITGB4_ENST00000579662.1_Splice_Site_p.R870_splice|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.R870_splice|ITGB4_ENST00000450894.3_Splice_Site_p.R870_splice|ITGB4_ENST00000449880.2_Splice_Site_p.R870_splice	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	870					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACCAAGTTCCGGTGAGTCCC	0.672000													8	19					0	0	0.000274275	0	0
LEPREL1	55214	broad.mit.edu	37	3	189692379	189692379	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:189692379C>T	ENST00000319332.5	-	9	1617	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E293K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	474					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)	CGGCACTGTTCTTCCGACAGG	0.577000													20	16					0	0	0.00188189	0	0
ABCC8	6833	broad.mit.edu	37	11	17434947	17434947	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:17434947C>T	ENST00000302539.4	-	20	2597	c.2472G>A	c.(2470-2472)ggG>ggA	p.G824G	ABCC8_ENST00000389817.3_Silent_p.G823G	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	823	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TAACCCGTTCCCCAATCTGGG	0.552000													45	167					0	0	0.000781405	0	0
ESYT1	23344	broad.mit.edu	37	12	56532030	56532030	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:56532030C>A	ENST00000394048.5	+	21	2575	c.2311C>A	c.(2311-2313)Cgt>Agt	p.R771S	ESYT1_ENST00000267113.4_Missense_Mutation_p.R781S|ESYT1_ENST00000541590.1_Missense_Mutation_p.R781S|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	771						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TCTCACCCCCCGTCCCACTGC	0.602000													5	88					0.000602214	0.00495536	0.000602214	1	0
SEMA3E	9723	broad.mit.edu	37	7	83119496	83119496	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:83119496G>A	ENST00000307792.3	-	2	677	c.210C>T	c.(208-210)ctC>ctT	p.L70L	SEMA3E_ENST00000427262.1_Silent_p.L10L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	70	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTCCCACGAAGAGCCTCTCTT	0.408000													15	38					0	0	0.000422831	0	0
NCAM1	4684	broad.mit.edu	37	11	113130986	113130986	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:113130986G>A	ENST00000316851.7	+	15	2042	c.2042G>A	c.(2041-2043)gGa>gAa	p.G681E	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Missense_Mutation_p.G563E	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	691	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AACCAGCAAGGAAAATCCAAG	0.547000													22	63					0	0	0.000586117	0	0
EPB41L1	2036	broad.mit.edu	37	20	34785922	34785922	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:34785922G>A	ENST00000338074.2	+	14	1788	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	EPB41L1_ENST00000202028.5_Missense_Mutation_p.A469T|EPB41L1_ENST00000373941.1_Missense_Mutation_p.A543T|EPB41L1_ENST00000441639.1_Missense_Mutation_p.A469T|EPB41L1_ENST00000373946.3_Missense_Mutation_p.A500T|EPB41L1_ENST00000373950.2_Missense_Mutation_p.A434T	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	543					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCTCCCCCGCCTCCCCCTC	0.612000													16	13					0	0	0.000566183	0	0
SPAG17	200162	broad.mit.edu	37	1	118537036	118537036	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118537036G>A	ENST00000336338.5	-	35	5236	c.5171C>T	c.(5170-5172)tCa>tTa	p.S1724L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1724						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TACCTCAACTGAGGGAAATGT	0.403000													23	50					0	0	0.00047179	0	0
INS-IGF2	723961	broad.mit.edu	37	11	2182097	2182097	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:2182097C>T	ENST00000397270.1	-	2	163	c.105G>A	c.(103-105)ctG>ctA	p.L35L	INS_ENST00000250971.3_Silent_p.L35L|INS_ENST00000397262.1_Silent_p.L35L|INS_ENST00000381330.4_Silent_p.L35L|INS_ENST00000512523.1_Silent_p.L35L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		35					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GAGCTTCCACCAGGTGTGAGC	0.647000													58	91					0	0	0.000781405	0	0
KIAA0753	9851	broad.mit.edu	37	17	6513386	6513386	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:6513386C>T	ENST00000361413.3	-	9	1998	c.1640G>A	c.(1639-1641)cGg>cAg	p.R547Q	KIAA0753_ENST00000589033.1_Missense_Mutation_p.R3Q|KIAA0753_ENST00000542606.1_Missense_Mutation_p.R248Q|KIAA0753_ENST00000572370.1_Missense_Mutation_p.R248Q	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	547						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CACAGGCTGCCGGTTCATTTT	0.498000													38	46					0	0	0.00128727	0	0
BRCA2	675	broad.mit.edu	37	13	32912842	32912842	+	Silent	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:32912842T>C	ENST00000544455.1	+	11	4577	c.4350T>C	c.(4348-4350)ttT>ttC	p.F1450F	BRCA2_ENST00000380152.3_Silent_p.F1450F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1450					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAAATTTCTTTGATCAGAAAC	0.289000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			95	46					0	0	0.000781405	0	0
ZNF451	26036	broad.mit.edu	37	6	57013018	57013018	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:57013018C>T	ENST00000370706.4	+	10	2379	c.2135C>T	c.(2134-2136)cCa>cTa	p.P712L	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P712L|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P712L|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATGATTTTCCAGTAATAGAG	0.363000													17	5					0	0	0.00074312	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049977	42049977	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:42049977G>A	ENST00000372584.1	-	3	1506	c.492C>T	c.(490-492)ttC>ttT	p.F164F	HIVEP3_ENST00000247584.5_Silent_p.F164F|HIVEP3_ENST00000429157.2_Silent_p.F164F|HIVEP3_ENST00000372583.1_Silent_p.F164F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	164					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F164F(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACGAGGCACGAAGACTTTGG	0.597000													28	85					0	0	0.001512	0	0
SI	6476	broad.mit.edu	37	3	164785148	164785148	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:164785148C>T	ENST00000264382.3	-	6	677	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	205	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CGTTGCTTTTCCTAATAACTT	0.308000										HNSCC(35;0.089)			27	18					0	0	0.000878237	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27832573	27832573	+	Splice_Site	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:27832573G>A	ENST00000318304.8	+	19	2067		c.e19+1		PPFIBP1_ENST00000542629.1_Splice_Site|PPFIBP1_ENST00000228425.6_Splice_Site|PPFIBP1_ENST00000537927.1_Splice_Site	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTTTGGAAAGTAAGTAAAGC	0.438000													17	69					0	0	0.000422831	0	0
FN1	2335	broad.mit.edu	37	2	216245549	216245549	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:216245549C>T	ENST00000354785.4	-	33	5788	c.5419G>A	c.(5419-5421)Gga>Aga	p.G1807R	FN1_ENST00000357009.2_Missense_Mutation_p.G1716R|FN1_ENST00000356005.4_Intron|FN1_ENST00000490833.1_5'UTR|FN1_ENST00000443816.1_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.G1807R|FN1_ENST00000336916.4_Missense_Mutation_p.G1716R|FN1_ENST00000345488.5_Missense_Mutation_p.G1716R|FN1_ENST00000346544.3_Missense_Mutation_p.G1716R|FN1_ENST00000432072.2_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.G1716R|FN1_ENST00000421182.1_Intron|FN1_ENST00000359671.1_Missense_Mutation_p.G1716R|FN1_ENST00000357867.4_Intron			P02751	FINC_HUMAN	fibronectin 1	1806	Fibronectin type-III 13.|Heparin-binding 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGGGTTCCAATCAGGGGC	0.522000													23	92					0	0	0.000720815	0	0
PSD3	23362	broad.mit.edu	37	8	18541318	18541318	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:18541318G>A	ENST00000428502.2	-	1	291	c.125C>T	c.(124-126)tCc>tTc	p.S42F	PSD3_ENST00000286485.8_Intron|PSD3_ENST00000523619.1_Intron|PSD3_ENST00000440756.2_Intron|PSD3_ENST00000327040.8_Intron			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	714					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TGAGGAGTTGGAAATTTTCAT	0.478000													63	90					0	0	0.000781405	0	0
TRIO	7204	broad.mit.edu	37	5	14304643	14304643	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:14304643A>G	ENST00000344204.4	+	8	1466	c.1442A>G	c.(1441-1443)gAa>gGa	p.E481G	TRIO_ENST00000537187.1_Missense_Mutation_p.E481G|TRIO_ENST00000509967.2_Missense_Mutation_p.E432G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	481					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CAGGACCTAGAAGATGCCATT	0.413000													19	59					0	0	0.000958276	0	0
RPL11	6135	broad.mit.edu	37	1	24022390	24022390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:24022390C>T	ENST00000374550.3	+	5	544	c.499C>T	c.(499-501)Cag>Tag	p.Q167*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	167					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GCGCTGGTTCCAGCAGAAGGT	0.493000													4	5					0	0	0.00024832	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5209251	5209251	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:5209251G>A	ENST00000274181.7	+	10	1635	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	ADAMTS16_ENST00000511368.1_Silent_p.K499K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	499	Disintegrin.				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						AGCCTGTGAAGGAATACAAGT	0.473000													38	96					0	0	0.00148497	0	0
OR5P3	120066	broad.mit.edu	37	11	7846717	7846717	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:7846717G>A	ENST00000328375.1	-	1	802	c.803C>T	c.(802-804)aCt>aTt	p.T268I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	268					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)		GTTCTGGTCAGTTGAGTAGCT	0.517000													16	43					0	0	0.000566183	0	0
CENPJ	55835	broad.mit.edu	37	13	25484175	25484175	+	Silent	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr13:25484175T>A	ENST00000381884.4	-	4	803	c.618A>T	c.(616-618)ggA>ggT	p.G206G	CENPJ_ENST00000545981.1_Silent_p.G206G	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	206					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TGGTGGTATTTCCTGGAGACC	0.458000													48	24					0	0	0.000781405	0	0
MTL5	9633	broad.mit.edu	37	11	68517742	68517742	+	Silent	SNP	T	T	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:68517742T>A	ENST00000443940.2	-	2	473	c.387A>T	c.(385-387)ctA>ctT	p.L129L	MTL5_ENST00000255087.5_Silent_p.L129L|MTL5_ENST00000544963.1_Silent_p.L129L			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	129					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GGTGCGCGGGTAGCAGCGAGG	0.721000													4	12					0	0	0.00116845	0	0
MPL	4352	broad.mit.edu	37	1	43812205	43812205	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:43812205G>A	ENST00000372470.3	+	7	1112	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MPL_ENST00000413998.2_Missense_Mutation_p.R357Q	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	357					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCAAGTCACGAAATGACAGC	0.532000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						25	86					0	0	0.00047179	0	0
LRP1B	53353	broad.mit.edu	37	2	141108425	141108425	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:141108425C>T	ENST00000389484.3	-	77	12804	c.11833G>A	c.(11833-11835)Gga>Aga	p.G3945R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3945					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)		TAGAAAATTCCGCCTGGATTA	0.323000										TSP Lung(27;0.18)			31	35					0	0	0.00178596	0	0
CD226	10666	broad.mit.edu	37	18	67562970	67562970	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr18:67562970C>T	ENST00000280200.4	-	4	962	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	CD226_ENST00000581982.1_Missense_Mutation_p.E77K|CD226_ENST00000582621.1_Missense_Mutation_p.E232K|CD226_ENST00000577287.1_Missense_Mutation_p.E77K	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	232	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.E232K(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				ACGAAGGTTTCGTTTTCTCCT	0.562000													53	28					0	0	0.000781405	0	0
C1orf194	127003	broad.mit.edu	37	1	109650604	109650604	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:109650604C>T	ENST00000369949.4	-	2	280	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369948.3_Missense_Mutation_p.R46Q	NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	46										large_intestine(2)|lung(2)|ovary(2)	6						TGAGTTGAGCCGACTCCAGGG	0.473000													25	96					0	0	0.000878237	0	0
C6orf165	154313	broad.mit.edu	37	6	88125461	88125461	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:88125461G>A	ENST00000507897.1	+	5	424	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	C6ORF165_ENST00000369562.4_Missense_Mutation_p.R114Q			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	114										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TCTGTTACCCGAGAAATTACA	0.398000													31	21					0	0	0.00058488	0	0
TTN	7273	broad.mit.edu	37	2	179598575	179598575	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:179598575C>T	ENST00000589042.1	-	53	15765	c.15541G>A	c.(15541-15543)Gga>Aga	p.G5181R	TTN_ENST00000591111.1_Missense_Mutation_p.G4864R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G3937R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4864	Ig-like 32.						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)			GTTTGTCCTCCTAGTGCAATC	0.418000													21	56					0	0	0.00188189	0	0
LINC00696	100128378	broad.mit.edu	37	3	52097286	52097286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:52097286C>T	ENST00000541313.1	-	1	281	c.282G>A	c.(280-282)tgG>tgA	p.W94*																								GCTCTGTCTTCCACAGAACAT	0.547000													55	25					0	0	0.000781405	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507606	1507606	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:1507606G>A	ENST00000330475.4	-	8	1081	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.P223L|ADAMTSL5_ENST00000395467.2_5'UTR	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	213						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCCTCGGGGATCAGGGT	0.657000													17	8					0	0	0.000375601	0	0
DRD2	1813	broad.mit.edu	37	11	113281470	113281470	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:113281470G>A	ENST00000362072.3	-	8	1655	c.1311C>T	c.(1309-1311)ttC>ttT	p.F437F	DRD2_ENST00000355319.2_Silent_p.F439F|DRD2_ENST00000346454.3_Silent_p.F408F|DRD2_ENST00000542968.1_Silent_p.F437F|DRD2_ENST00000538967.1_Silent_p.F439F|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000544518.1_Silent_p.F436F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	437					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GGATCTTCAGGAAGGCCTTGC	0.622000													23	76					0	0	0.000586117	0	0
PREX2	80243	broad.mit.edu	37	8	68965372	68965372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:68965372G>A	ENST00000288368.4	+	9	1261	c.984G>A	c.(982-984)tgG>tgA	p.W328*	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	328	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTAATGGATGGAAGATACATA	0.318000													37	56					0	0	0.00195071	0	0
IGSF3	3321	broad.mit.edu	37	1	117146260	117146260	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:117146260G>A	ENST00000369486.3	-	6	2375	c.1610C>T	c.(1609-1611)tCc>tTc	p.S537F	IGSF3_ENST00000318837.6_Missense_Mutation_p.S557F|IGSF3_ENST00000369483.1_Missense_Mutation_p.S557F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	537	Ig-like C2-type 4.					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)		AGCTGTGATGGAGATGGGAGT	0.577000													22	31					0	0	0.00047179	0	0
ANO2	57101	broad.mit.edu	37	12	5708689	5708689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:5708689C>T	ENST00000546188.1	-	21	2268	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	ANO2_ENST00000356134.5_Missense_Mutation_p.E733K|ANO2_ENST00000327087.8_Missense_Mutation_p.E732K			Q9NQ90	ANO2_HUMAN	anoctamin 2	737						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						GTGTATGGTTCCAAGCTGTAG	0.507000													48	78					0	0	0.000781405	0	0
AKNA	80709	broad.mit.edu	37	9	117118331	117118331	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:117118331G>A	ENST00000307564.4	-	14	3093	c.2932C>T	c.(2932-2934)Ccc>Tcc	p.P978S	AKNA_ENST00000223791.3_Missense_Mutation_p.P438S|AKNA_ENST00000374088.3_Missense_Mutation_p.P978S|AKNA_ENST00000374075.5_Missense_Mutation_p.P897S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCTCTTCTGGGAATCAGAGAA	0.627000													24	23					0	0	0.00127121	0	0
VWA3A	146177	broad.mit.edu	37	16	22132863	22132863	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:22132863G>A	ENST00000389398.5	+	14	1377	c.1281G>A	c.(1279-1281)ctG>ctA	p.L427L	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	427						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ATCAGGTCCTGGCACCCAATG	0.413000													70	82					0	0	0.000781405	0	0
PCLO	27445	broad.mit.edu	37	7	82585080	82585080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:82585080G>A	ENST00000423517.2	-	5	5526	c.5189C>T	c.(5188-5190)tCc>tTc	p.S1730F	PCLO_ENST00000333891.8_Missense_Mutation_p.S1730F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1661					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGATGTAGGGGATGTACCAGG	0.498000													51	67					0	0	0.000781405	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948468	82948468	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:82948468C>T	ENST00000274341.4	-	3	1126	c.276G>A	c.(274-276)gtG>gtA	p.V92V	HAPLN1_ENST00000514416.1_Silent_p.V92V	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	92	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		CAAAAACATCCACTTCCTTGA	0.433000													43	48					0	0	0.000589545	0	0
TPM2	7169	broad.mit.edu	37	9	35689769	35689769	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:35689769C>T	ENST00000378292.3	-	1	1248	c.46G>A	c.(46-48)Gag>Aag	p.E16K	TPM2_ENST00000329305.2_Missense_Mutation_p.E16K|TPM2_ENST00000360958.2_Missense_Mutation_p.E16K|TPM2_ENST00000378300.5_Missense_Mutation_p.E16K	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	16					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCGTTCTCCTTGTCCAGC	0.672000													77	64					0	0	0.000781405	0	0
ZNF99	7652	broad.mit.edu	37	19	22941498	22941498	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:22941498C>T	ENST00000397104.3	-	5	939	c.940G>A	c.(940-942)Gct>Act	p.A314T	ZNF99_ENST00000596209.1_Missense_Mutation_p.A405T					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CACTTAAAAGCTTTACCACAT	0.378000													8	34					0	0	0.000157383	0	0
NINL	22981	broad.mit.edu	37	20	25459788	25459788	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr20:25459788T>C	ENST00000278886.6	-	16	2045	c.1972A>G	c.(1972-1974)Agg>Ggg	p.R658G	NINL_ENST00000422516.1_Missense_Mutation_p.R658G	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	658					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ATGTCCTTCCTCTCCTTCTCA	0.542000													20	65					0	0	0.00152264	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802483	185802483	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:185802483G>A	ENST00000302277.6	+	4	2954	c.2360G>A	c.(2359-2361)cGa>cAa	p.R787Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	787						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						AGTTTAAATCGACAGAATCAT	0.373000													38	41					0	0	0.000814825	0	0
SEMA3C	10512	broad.mit.edu	37	7	80418633	80418633	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:80418633A>T	ENST00000265361.3	-	12	1904	c.1343T>A	c.(1342-1344)tTt>tAt	p.F448Y	SEMA3C_ENST00000419255.2_Missense_Mutation_p.F448Y|SEMA3C_ENST00000544525.1_Missense_Mutation_p.F466Y	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	448	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGTTCCGAGAAACAGGACATG	0.398000													37	84					0	0	0.00128727	0	0
AHNAK	79026	broad.mit.edu	37	11	62287339	62287339	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:62287339G>A	ENST00000378024.4	-	5	14824	c.14550C>T	c.(14548-14550)tcC>tcT	p.S4850S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4850					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCAGGTATGGAGATCTTGG	0.433000													20	71					0	0	0.000295444	0	0
PGM1	5236	broad.mit.edu	37	1	64059224	64059224	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:64059224T>C	ENST00000371084.3	+	1	278	c.65T>C	c.(64-66)cTg>cCg	p.L22P		NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	22					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACGAGCGGGCTGCGGAAGCGG	0.647000													5	23					0	0	0.000157383	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748616	125748616	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr9:125748616A>G	ENST00000373647.4	+	4	642	c.508A>G	c.(508-510)Atg>Gtg	p.M170V		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	170	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGCCTTAAGGATGATGTCCAT	0.468000													73	30					0	0	0.000781405	0	0
ITGA7	3679	broad.mit.edu	37	12	56090798	56090798	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:56090798G>A	ENST00000257880.7	-	13	1973	c.1754C>T	c.(1753-1755)cCc>cTc	p.P585L	ITGA7_ENST00000452168.2_Missense_Mutation_p.P448L|ITGA7_ENST00000553804.1_Missense_Mutation_p.P545L|ITGA7_ENST00000394229.2_Missense_Mutation_p.P541L|ITGA7_ENST00000394230.2_Missense_Mutation_p.P545L|ITGA7_ENST00000347027.6_Missense_Mutation_p.P535L|ITGA7_ENST00000555728.1_Missense_Mutation_p.P585L|ITGA7_ENST00000257879.6_Missense_Mutation_p.P541L			Q13683	ITA7_HUMAN	integrin, alpha 7	585					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGTCACACGGGGAACCTGGCC	0.622000													12	9					0	0	0.00136819	0	0
PPL	5493	broad.mit.edu	37	16	4934437	4934437	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr16:4934437C>T	ENST00000345988.2	-	22	4308	c.4219G>A	c.(4219-4221)Gag>Aag	p.E1407K	PPL_ENST00000590782.2_Missense_Mutation_p.E1405K	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1407					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CGCTCGCGCTCTAGCTCCTCC	0.697000													23	25					0	0	0.000375601	0	0
GPLD1	2822	broad.mit.edu	37	6	24460550	24460550	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:24460550T>C	ENST00000230036.1	-	12	1075	c.965A>G	c.(964-966)tAt>tGt	p.Y322C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	322						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TCTTTCAGTATAGTTTATATT	0.363000													46	48					0	0	0.000680045	0	0
SPAG17	200162	broad.mit.edu	37	1	118534050	118534050	+	Silent	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:118534050G>T	ENST00000336338.5	-	37	5528	c.5463C>A	c.(5461-5463)ctC>ctA	p.L1821L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1821						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAACCAGCTTGAGGAGATCAG	0.363000													24	29					7.07758e-08	5.97914e-07	0.000720815	1	0
OVGP1	5016	broad.mit.edu	37	1	111957780	111957780	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:111957780C>T	ENST00000369732.3	-	11	1398	c.1343G>A	c.(1342-1344)gGt>gAt	p.G448D		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	448					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACAGTTGTACCTCTAGGGGT	0.488000													35	26					0	0	0.000692331	0	0
EBF1	1879	broad.mit.edu	37	5	158250325	158250325	+	Splice_Site	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr5:158250325C>T	ENST00000313708.6	-	8	919	c.636_splice	c.e8-1	p.V213_splice	EBF1_ENST00000517373.1_Splice_Site_p.V213_splice|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Splice_Site_p.V190_splice	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	213					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACACCACGACCTGGAGACAT	0.413000			T	HMGA2	lipoma								12	1					0	0	0.000308642	0	0
XIRP2	129446	broad.mit.edu	37	2	168101760	168101760	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:168101760G>A	ENST00000409195.1	+	9	3947	c.3858G>A	c.(3856-3858)gaG>gaA	p.E1286E	XIRP2_ENST00000295237.9_Silent_p.E1286E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.E1064E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1111					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTAGATGAGATTAAAGAAG	0.373000													34	53					0	0	0.000491102	0	0
DMXL2	23312	broad.mit.edu	37	15	51758421	51758421	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:51758421C>T	ENST00000251076.5	-	30	7764	c.7477G>A	c.(7477-7479)Gat>Aat	p.D2493N	DMXL2_ENST00000449909.3_Missense_Mutation_p.D1857N|DMXL2_ENST00000543779.2_Missense_Mutation_p.D2494N|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2493						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTGTGTATCTGAAAAAAAG	0.318000													18	97					0	0	0.000958276	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582535	24582535	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:24582535G>A	ENST00000535378.1	-	7	1748	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	KIAA0319_ENST00000543707.1_Missense_Mutation_p.P378L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P378L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P333L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P378L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	378	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTAGTCTGTGGGGTGGCTTAT	0.383000													66	96					0	0	0.000781405	0	0
BTN1A1	696	broad.mit.edu	37	6	26508792	26508792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:26508792C>T	ENST00000244513.6	+	7	1037	c.971C>T	c.(970-972)tCt>tTt	p.S324F		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	324	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GATTCAAAATCTGTTCGACTG	0.488000													31	122					0	0	0.000409698	0	0
PPIL2	23759	broad.mit.edu	37	22	22040799	22040799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr22:22040799G>A	ENST00000406385.1	+	11	802	c.742G>A	c.(742-744)Gct>Act	p.A248T	PPIL2_ENST00000456792.2_Missense_Mutation_p.A227T|PPIL2_ENST00000335025.7_Missense_Mutation_p.A248T|PPIL2_ENST00000398831.3_Missense_Mutation_p.A248T|PPIL2_ENST00000412327.1_Missense_Mutation_p.A248T|PPIL2_ENST00000492445.2_Missense_Mutation_p.A248T			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	248					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GAAGGTCAGCGCTTCCTTCAC	0.612000													27	13					0	0	0.00106085	0	0
CHD2	1106	broad.mit.edu	37	15	93528899	93528899	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:93528899C>T	ENST00000394196.4	+	26	4477	c.3409C>T	c.(3409-3411)Cga>Tga	p.R1137*	CHD2_ENST00000557381.1_Nonsense_Mutation_p.R1137*	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1137					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCAGAGATCCGAAGGTTGGT	0.527000													31	72					0	0	0.00058488	0	0
DISP2	85455	broad.mit.edu	37	15	40657833	40657833	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:40657833G>A	ENST00000267889.3	+	7	939	c.852G>A	c.(850-852)aaG>aaA	p.K284K		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	284					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TTGCAGAGAAGAGCTATGCAA	0.567000													47	47					0	0	0.000781405	0	0
ATP4A	495	broad.mit.edu	37	19	36054375	36054375	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:36054375C>T	ENST00000262623.3	-	2	95	c.67G>A	c.(67-69)Gct>Act	p.A23T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	23					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	ATCTTGGCAGCCATGTCCCCG	0.572000													30	111					0	0	0.000692331	0	0
RET	5979	broad.mit.edu	37	10	43604664	43604664	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr10:43604664C>T	ENST00000355710.3	+	6	1481	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	RET_ENST00000340058.5_Missense_Mutation_p.R417C	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	417					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CAGGAGGGCTCGCCGATTTGC	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				11	4					0	0	0.00185496	0	0
SERPINA3	12	broad.mit.edu	37	14	95085667	95085667	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:95085667C>T	ENST00000553947.1	+	6	1742	c.854C>T	c.(853-855)tCc>tTc	p.S285F	SERPINA3_ENST00000482740.1_Missense_Mutation_p.S42F|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S260F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S260F|SERPINA3_ENST00000467132.1_Missense_Mutation_p.S260F			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	260					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAGGAGCTGTCCTGCACCGTG	0.517000													16	10					0	0	0.000308642	0	0
P2RX3	5024	broad.mit.edu	37	11	57115699	57115699	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:57115699C>T	ENST00000263314.2	+	5	481	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	149					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CCTGTGAGATCCAGGGCTGGT	0.622000													5	7					0	0	0.000602214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679243	176679243	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:176679243G>A	ENST00000367662.3	+	11	4746	c.3582G>A	c.(3580-3582)cgG>cgA	p.R1194R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1194					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGGCTACCCGGGCTTACTCCT	0.458000													55	66					0	0	0.000781405	0	0
SZRD1	26099	broad.mit.edu	37	1	16721553	16721553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:16721553C>T	ENST00000401088.4	+	4	552	c.377C>T	c.(376-378)cCc>cTc	p.P126L	SZRD1_ENST00000401089.3_Missense_Mutation_p.P107L|SZRD1_ENST00000492354.1_Missense_Mutation_p.P106L|SZRD1_ENST00000375590.3_Missense_Mutation_p.P106L|SZRD1_ENST00000472461.1_3'UTR|SZRD1_ENST00000471507.1_Missense_Mutation_p.P125L	NM_001114600.1|NM_001271869.1	NP_001108072.1|NP_001258798.1			SUZ RNA binding domain containing 1																		ATCTCCCAACCCGAAGACAGC	0.443000													13	32					0	0	0.00185496	0	0
MAATS1	89876	broad.mit.edu	37	3	119458134	119458134	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:119458134C>T	ENST00000273390.5	+	12	1571	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		CTGTGATCTACCTTCAAAAGT	0.418000													86	42					0	0	0.000781405	0	0
BTK	695	broad.mit.edu	37	X	100615121	100615121	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:100615121G>A	ENST00000308731.7	-	9	957	c.794C>T	c.(793-795)cCt>cTt	p.P265L	BTK_ENST00000372880.1_Missense_Mutation_p.P265L	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	265	SH3.		Missing (in XLA; severe).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATAGTTACTAGGAATGTAGCC	0.468000									Agammaglobulinemia, X-linked				61	16					0	0	0.000781405	0	0
GRIA2	2891	broad.mit.edu	37	4	158281187	158281187	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:158281187C>T	ENST00000296526.7	+	13	2508	c.2183C>T	c.(2182-2184)aCg>aTg	p.T728M	GRIA2_ENST00000393815.2_Missense_Mutation_p.T681M|GRIA2_ENST00000507898.1_Missense_Mutation_p.T681M|GRIA2_ENST00000264426.9_Missense_Mutation_p.T728M|GRIA2_ENST00000449365.1_Missense_Mutation_p.T681M	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	728					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGGAGTCCACGATGAACGAG	0.522000													10	53					0	0	0.000442599	0	0
PKIA	5569	broad.mit.edu	37	8	79510635	79510635	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:79510635A>G	ENST00000396418.2	+	3	502	c.16A>G	c.(16-18)Act>Gct	p.T6A	PKIA_ENST00000352966.5_Missense_Mutation_p.T6A|PKIA_ENST00000518467.1_Missense_Mutation_p.T6A	NM_006823.3|NM_181839.2	NP_006814.1|NP_862822.1	P61925	IPKA_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor alpha	6							cAMP-dependent protein kinase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6						TGATGTGGAAACTACATATGC	0.358000													27	68					0	0	0.000339439	0	0
RSBN1L	222194	broad.mit.edu	37	7	77402515	77402515	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:77402515C>T	ENST00000334955.7	+	6	1704	c.1677C>T	c.(1675-1677)ccC>ccT	p.P559P	RSBN1L_ENST00000445288.1_Silent_p.P289P	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	559						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGTGAGCCCCGTGAGATGC	0.388000													36	41					0	0	0.00128727	0	0
CLPB	81570	broad.mit.edu	37	11	72018283	72018283	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:72018283G>A	ENST00000294053.3	-	10	1345	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	CLPB_ENST00000543042.1_Missense_Mutation_p.A190V|CLPB_ENST00000437826.2_Missense_Mutation_p.A346V|CLPB_ENST00000538021.1_5'UTR|CLPB_ENST00000538039.1_Missense_Mutation_p.A361V|CLPB_ENST00000340729.5_Missense_Mutation_p.A332V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	391					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGTCTGCTTGGCCAGCTCTGT	0.463000													74	228					0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264878	50264878	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:50264878C>T	ENST00000284509.6	-	13	1285	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.E382K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	382					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGCCCCAGTTCCTCATTGAGC	0.423000													18	20					0	0	0.00074312	0	0
LAMA2	3908	broad.mit.edu	37	6	129637213	129637213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:129637213C>T	ENST00000421865.2	+	27	4004	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1319	Laminin IV type A 2.				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)		GGATGATCCTCGAGTCCATAG	0.348000													27	24					0	0	0.00058488	0	0
HERC3	8916	broad.mit.edu	37	4	89627995	89627995	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:89627995C>T	ENST00000402738.1	+	26	3276	c.3037C>T	c.(3037-3039)Ccg>Tcg	p.P1013S	HERC3_ENST00000543130.1_Missense_Mutation_p.P457S|HERC3_ENST00000264345.3_Missense_Mutation_p.P1013S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	1013	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GGAGTACTTGCCGGTGGCCCA	0.577000											OREG0016265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	12					0	0	0.00178596	0	0
FGF16	8823	broad.mit.edu	37	X	76709692	76709692	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chrX:76709692C>T	ENST00000439435.1	+	1	45	c.45C>T	c.(43-45)tcC>tcT	p.S15S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						GATCAGCATCCGGGGAGTGGA	0.423000													9	1					0	0	0.00185496	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417713	150417713	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:150417713G>T	ENST00000307194.5	+	3	761	c.621G>T	c.(619-621)atG>atT	p.M207I		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGATGGTCGAGGGCT	0.692000													7	15					8.12818e-05	0.000674086	8.12818e-05	1	0
ME3	10873	broad.mit.edu	37	11	86267657	86267657	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:86267657G>A	ENST00000543262.1	-	4	731	c.405C>T	c.(403-405)atC>atT	p.I135I	ME3_ENST00000359636.2_Silent_p.I135I|ME3_ENST00000323418.6_Silent_p.I73I|ME3_ENST00000393324.3_Silent_p.I135I|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	135					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	p.I135I(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCGTGTACACGATTGGCATGA	0.587000													9	17					0	0	0.000274275	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885171	88885171	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:88885171G>A	ENST00000319675.3	-	1	1125	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	343										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCCATGACGGAGGCTCCAGA	0.602000													23	37					0	0	0.000586117	0	0
SIM1	6492	broad.mit.edu	37	6	100841546	100841546	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:100841546G>A	ENST00000369208.3	-	11	2169	c.1387C>T	c.(1387-1389)Cat>Tat	p.H463Y	SIM1_ENST00000262901.4_Missense_Mutation_p.H463Y			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	463	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCCTGGGTATGGAAATGCCTC	0.632000													24	28					0	0	0.000375601	0	0
PAPL	390928	broad.mit.edu	37	19	39591436	39591436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:39591436C>T	ENST00000594229.1	+	5	660	c.626C>T	c.(625-627)tCc>tTc	p.S209F	PAPL_ENST00000331256.5_Silent_p.L250L			Q6ZNF0	PAPL_HUMAN		0						extracellular region	acid phosphatase activity|metal ion binding										ATTTCTTTCTCCATTATGGCC	0.617000													6	22					0	0	8.12818e-05	0	0
RGPD4	285190	broad.mit.edu	37	2	108488632	108488632	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr2:108488632A>G	ENST00000408999.3	+	20	4249	c.4172A>G	c.(4171-4173)aAg>aGg	p.K1391R	RGPD4_ENST00000354986.4_Missense_Mutation_p.K1391R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1391	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TATGATAATAAGCAAGTTCGT	0.353000													119	211					0	0	0.000781405	0	0
SDK2	54549	broad.mit.edu	37	17	71335026	71335026	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:71335026A>C	ENST00000392650.3	-	45	6219	c.6219T>G	c.(6217-6219)ttT>ttG	p.F2073L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.F2054L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2073					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGTGGTTGACAAAGGAGTGGG	0.582000													14	16					0	0	0.000308642	0	0
MIA2	117153	broad.mit.edu	37	14	39721990	39721990	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:39721990G>A	ENST00000280082.3	+	5	1805	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	145						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GAGAATTCACGAAGAAGTATA	0.378000													49	41					0	0	0.000781405	0	0
OR11H12	440153	broad.mit.edu	37	14	19378043	19378043	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:19378043C>T	ENST00000550708.1	+	1	522	c.450C>T	c.(448-450)atC>atT	p.I150I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCCTAATATCATGACTGGGC	0.458000													10	232					0	0	0.000566183	0	0
OR51G1	79324	broad.mit.edu	37	11	4944713	4944713	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:4944713G>A	ENST00000321961.2	-	1	924	c.857C>T	c.(856-858)cCa>cTa	p.P286L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAAGGGGTGGTACCAGCAG	0.453000													22	74					0	0	0.000375601	0	0
TICRR	90381	broad.mit.edu	37	15	90137730	90137730	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:90137730G>A	ENST00000268138.7	+	6	1731	c.1626G>A	c.(1624-1626)caG>caA	p.Q542Q	TICRR_ENST00000560985.1_Silent_p.Q541Q					TOPBP1-interacting checkpoint and replication regulator																		AGCTCTACCAGAGAAAATCTC	0.408000													36	30					0	0	0.000814825	0	0
POLR2A	5430	broad.mit.edu	37	17	7401487	7401487	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:7401487C>T	ENST00000322644.6	+	8	1692	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	POLR2A_ENST00000572844.1_Silent_p.F431F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	431					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACTTGCGTTTCCACCCCAAGC	0.557000													16	20					0	0	0.00121646	0	0
RPL11	6135	broad.mit.edu	37	1	24022389	24022389	+	Silent	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr1:24022389C>T	ENST00000374550.3	+	5	543	c.498C>T	c.(496-498)ttC>ttT	p.F166F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	166					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		TGCGCTGGTTCCAGCAGAAGG	0.488000													4	5					0	0	0.00024832	0	0
KMT2D	8085	broad.mit.edu	37	12	49445377	49445377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr12:49445377G>A	ENST00000301067.7	-	10	2088	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGATGTGGGGGAGTCCTCA	0.652000													10	44					0	0	0.000978159	0	0
MYO9A	4649	broad.mit.edu	37	15	72190602	72190602	+	Silent	SNP	T	T	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:72190602T>C	ENST00000356056.5	-	25	4714	c.4242A>G	c.(4240-4242)tcA>tcG	p.S1414S	MYO9A_ENST00000424560.1_Silent_p.S1414S|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Silent_p.S1395S|MYO9A_ENST00000566885.1_Silent_p.S1034S|MYO9A_ENST00000564571.1_Silent_p.S1414S	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1414	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAGACTATTTGAAATGAAGG	0.388000													25	21					0	0	0.00106085	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023397	193023397	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:193023397G>A	ENST00000342358.4	-	23	2746	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	877					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAGGTAAAAGGGGATGCCACA	0.468000													57	26					0	0	0.000781405	0	0
SETMAR	6419	broad.mit.edu	37	3	4355399	4355399	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr3:4355399G>A	ENST00000358065.4	+	2	1041	c.974G>A	c.(973-975)gGc>gAc	p.G325D	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.G325D|SETMAR_ENST00000425863.1_Missense_Mutation_p.G186D	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	312	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		AGCATGTGTGGCTCAGCCCCT	0.502000								Chromatin Structure					27	15					0	0	0.000586117	0	0
UBE4A	9354	broad.mit.edu	37	11	118245634	118245634	+	Silent	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:118245634G>A	ENST00000252108.3	+	9	1271	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K	UBE4A_ENST00000431736.2_Silent_p.K387K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	380					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TCCACGAAAAGATCTACCAGA	0.438000													12	47					0	0	0.000219431	0	0
SMPDL3A	10924	broad.mit.edu	37	6	123122545	123122545	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:123122545A>G	ENST00000368440.4	+	4	739	c.562A>G	c.(562-564)Agg>Ggg	p.R188G	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.R57G	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	188					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TAGTACTTTAAGGAAAGGTAA	0.363000													21	51					0	0	0.00152264	0	0
GUCY2D	3000	broad.mit.edu	37	17	7909741	7909741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:7909741G>A	ENST00000254854.4	+	4	1237	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	363					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGGCGTGGCAGAAGCGCGGGC	0.662000													25	27					0	0	0.00178596	0	0
TRIM60	166655	broad.mit.edu	37	4	165962309	165962309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr4:165962309G>A	ENST00000512596.1	+	3	1301	c.1085G>A	c.(1084-1086)tGg>tAg	p.W362*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.W362*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.W362*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	362	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAACCTAAATGGATATTGGGT	0.483000													59	49					0	0	0.000781405	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332667	22332667	+	RNA	SNP	C	C	T			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr15:22332667C>T	ENST00000558896.1	+	0	474																											AGGGGATTTCCTACAGCAGGG	0.443000													10	74					0	0	0.000673444	0	0
DNAH8	1769	broad.mit.edu	37	6	38862526	38862526	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr6:38862526G>A	ENST00000359357.3	+	57	8236	c.7982G>A	c.(7981-7983)cGa>cAa	p.R2661Q	DNAH8_ENST00000449981.2_Missense_Mutation_p.R2878Q|DNAH8_ENST00000441566.1_Missense_Mutation_p.R2625Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCAATCTTCGAGATCTTTCC	0.393000													32	37					0	0	0.000491102	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3																						TCCCAAGGTGGGGGGCTGAGGA	0.564													4	2	---	---	---	---					
NEFL	4747	broad.mit.edu	37	8	24811843	24811843	+	RNA	DEL	A	A	-			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr8:24811843delA	ENST00000221169.5	-	0	1639							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AAAATAAAACAAAAAAAAAAT	0.328													7	61	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102737945	102737945	+	RNA	DEL	A	A	-	rs28381681		TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													6	4	---	---	---	---					
TRAV12-2	28673	broad.mit.edu	37	14	22356088	22356089	+	RNA	INS	-	-	T	rs140986787	by1000genomes	TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr14:22356088_22356089insT	ENST00000390437.2	+	0	52_53																											TTCTAGGTGCATTTTTTAAGGG	0.347													4	8	---	---	---	---					
RNF213	57674	broad.mit.edu	37	17	78357707	78357707	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr17:78357707delC	ENST00000582970.1	+	59	14444	c.14301delC	c.(14299-14301)atfs	p.I4767fs	RNF213_ENST00000508628.2_Frame_Shift_Del_p.I4816fs|RNF213_ENST00000336301.6_Frame_Shift_Del_p.I2840fs|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGTGCCCATCCTCTGGCATT	0.507													40	52	---	---	---	---					
PSG9	5678	broad.mit.edu	37	19	43772101	43772101	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A19H-06A-12D-A196-08	TCGA-ER-A19H-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25298db1-054a-4d28-95e2-1e05f7ecc43d	a8e23db4-c8f9-40d6-8352-f572d3842e51	g.chr19:43772101delT	ENST00000244293.7	-	2	331	c.265delA	c.(265-267)ttfs	p.I90fs	PSG9_ENST00000418820.2_Frame_Shift_Del_p.I90fs|PSG9_ENST00000443718.3_Frame_Shift_Del_p.I90fs|PSG9_ENST00000291752.5_Frame_Shift_Del_p.I90fs|PSG9_ENST00000596730.1_Frame_Shift_Del_p.I90fs|PSG9_ENST00000593948.1_Frame_Shift_Del_p.I90fs|PSG9_ENST00000270077.3_Frame_Shift_Del_p.I90fs			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	90	Ig-like V-type.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCATATATAATTATTTTACCA	0.433													83	147	---	---	---	---					
