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
ACAP2	23527	broad.mit.edu	37	3	195022341	195022341	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:195022341G>C	ENST00000326793.6	-	15	1588	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	453	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TAAAGTTAAAGATCGTACTTT	0.323000													28	36					0	0	0.001512	0	0
TMEM27	57393	broad.mit.edu	37	X	15657827	15657827	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:15657827C>G	ENST00000380342.3	-	5	625	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	124					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					TTTAAAAATTCCAGAGTTTGG	0.338000													62	96					0	0	0.000781405	0	0
BFSP2	8419	broad.mit.edu	37	3	133119189	133119189	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:133119189C>T	ENST00000302334.2	+	1	351	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	88	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCTTCAGGGCCTGCGGAGCTC	0.642000													28	26					0	0	0.000878237	0	0
FAM216A	29902	broad.mit.edu	37	12	110925706	110925706	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:110925706C>T	ENST00000377673.5	+	6	1173	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	221																	ATGTAAGTCACTGAAGATTTT	0.333000													22	84					0	0	0.001512	0	0
DRD5	1816	broad.mit.edu	37	4	9784934	9784934	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:9784934C>T	ENST00000304374.2	+	1	1677	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	427					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	AGGTGGACAACGACGAGGAGG	0.572000													9	52					0	0	0.000274275	0	0
PXDNL	137902	broad.mit.edu	37	8	52321470	52321470	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:52321470C>G	ENST00000356297.4	-	17	2814	c.2714G>C	c.(2713-2715)cGg>cCg	p.R905P	PXDNL_ENST00000543296.1_Missense_Mutation_p.R905P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	905					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTGGGATTCCCGCTCCGAGCT	0.582000													9	47					0	0	0.000673444	0	0
VPS54	51542	broad.mit.edu	37	2	64208813	64208813	+	Silent	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:64208813T>C	ENST00000272322.4	-	3	499	c.345A>G	c.(343-345)gaA>gaG	p.E115E	VPS54_ENST00000409558.3_Silent_p.E103E	NM_016516.2	NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	115					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CTGTAAAATGTTCCTTGCTGA	0.353000													41	90					0	0	0.000437636	0	0
RYR2	6262	broad.mit.edu	37	1	237777844	237777844	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:237777844G>T	ENST00000366574.2	+	37	5733	c.5416G>T	c.(5416-5418)Gcc>Tcc	p.A1806S	RYR2_ENST00000360064.6_Missense_Mutation_p.A1804S|RYR2_ENST00000542537.1_Missense_Mutation_p.A1790S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1806	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCTTCATGCCCGGGACCC	0.468000													63	157					2.60599e-31	3.09406e-30	0.000781405	1	0
SULT1A2	6799	broad.mit.edu	37	16	28606736	28606736	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:28606736G>C	ENST00000533150.1	-	2	1525	c.409C>G	c.(409-411)Cct>Gct	p.P137A	SULT1A2_ENST00000395630.1_Missense_Mutation_p.H108Q|SULT1A2_ENST00000335715.4_Missense_Mutation_p.H108Q			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	150					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						CCAGGGGCAGGTGTGTCTTCA	0.582000													19	87					0	0	0.00152264	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028204	59028204	+	Silent	SNP	A	A	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:59028204A>C	ENST00000594051.1	-	2	1317	c.837T>G	c.(835-837)gcT>gcG	p.A279A	ZBTB45_ENST00000354590.3_Silent_p.A279A|ZBTB45_ENST00000600990.1_Silent_p.A279A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		ATACGTCCTCAGCTGACCCAG	0.627000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	31					0	0	0.00152264	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315451	107315451	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:107315451G>T	ENST00000265715.3	+	6	886	c.662G>T	c.(661-663)gGt>gTt	p.G221V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	221					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.G221V(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CCTTTGGTTGGTGGCTTCACA	0.408000									Pendred syndrome				57	117					2.91325e-39	3.5491e-38	0.000781405	1	0
PPM1H	57460	broad.mit.edu	37	12	63225927	63225927	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:63225927G>A	ENST00000228705.6	-	2	678	c.378C>T	c.(376-378)ccC>ccT	p.P126P		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	126							phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CTTCCCCATTGGGAAGGGAGG	0.552000													7	18					0	0	8.12818e-05	0	0
NACA	4666	broad.mit.edu	37	12	57108218	57108218	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:57108218C>G	ENST00000454682.1	-	5	6032	c.5751G>C	c.(5749-5751)gcG>gcC	p.A1917A	NACA_ENST00000393891.4_Silent_p.A54A|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000546392.1_Silent_p.A54A|NACA_ENST00000552540.1_Silent_p.A54A|NACA_ENST00000550952.1_Silent_p.A764A|NACA_ENST00000356769.3_Silent_p.A54A	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	54					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CAGCTGCTGCCGCCAGCTAAG	0.408000			T	BCL6	NHL								17	50					0	0	0.000958276	0	0
OR8J3	81168	broad.mit.edu	37	11	55904930	55904930	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55904930T>C	ENST00000301529.1	-	1	264	c.265A>G	c.(265-267)Aag>Gag	p.K89E		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GTAGTTTTCTTCTTTACTAAA	0.418000													36	104					0	0	0.000692331	0	0
ASPM	259266	broad.mit.edu	37	1	197069976	197069976	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:197069976C>A	ENST00000367409.4	-	18	8661	c.8405G>T	c.(8404-8406)gGc>gTc	p.G2802V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2802					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACAAGCAAGGCCAGAAGCTTT	0.383000													47	114					1.81118e-26	2.04634e-25	0.000781405	1	0
KIAA1211L	343990	broad.mit.edu	37	2	99448925	99448925	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:99448925C>A	ENST00000397899.2	-	5	757	c.426G>T	c.(424-426)ggG>ggT	p.G142G	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		TGGCAGGAAGCCCCCCTGGAG	0.522000													16	53					4.7546e-09	3.8504e-08	0.000422831	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125685331	125685331	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:125685331A>T	ENST00000371126.1	-	1	1503	c.1261T>A	c.(1261-1263)Ttt>Att	p.F421I		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	421										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ATGCCACCAAAGTAATTCACC	0.577000													13	131					0	0	0.000308642	0	0
TSPAN32	10077	broad.mit.edu	37	11	2324063	2324063	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:2324063C>T	ENST00000451520.2	+	1	111	c.23C>T	c.(22-24)cCc>cTc	p.P8L	TSPAN32_ENST00000381121.3_Intron|TSPAN32_ENST00000483227.1_Intron|TSPAN32_ENST00000182290.4_Intron			Q96QS1	TSN32_HUMAN	tetraspanin 32	0					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CTGAGTCTGCCCTATCCACAG	0.647000													5	17					0	0	0.000602214	0	0
LAMB4	22798	broad.mit.edu	37	7	107732132	107732132	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:107732132G>A	ENST00000388781.3	-	14	1723	c.1640C>T	c.(1639-1641)cCt>cTt	p.P547L	LAMB4_ENST00000414450.2_Missense_Mutation_p.P547L|LAMB4_ENST00000205386.4_Missense_Mutation_p.P547L|LAMB4_ENST00000388780.3_Missense_Mutation_p.P547L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	547	Laminin EGF-like 5; truncated.|Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAAATTCAAAGGAGCAAAGAA	0.502000													17	78					0	0	0.000422831	0	0
SPOPL	339745	broad.mit.edu	37	2	139322544	139322544	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:139322544G>T	ENST00000280098.4	+	10	1394	c.1015G>T	c.(1015-1017)Ggg>Tgg	p.G339W		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	339						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GTGTAAAGATGGGAAAAACTG	0.363000													12	52					0.00010058	0.000708103	0.00136819	1	0
PTPRC	5788	broad.mit.edu	37	1	198685924	198685924	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:198685924C>A	ENST00000367376.2	+	13	1570	c.1399C>A	c.(1399-1401)Cgt>Agt	p.R467S	PTPRC_ENST00000348564.6_Missense_Mutation_p.R308S|PTPRC_ENST00000352140.3_Missense_Mutation_p.R419S|PTPRC_ENST00000594404.1_Missense_Mutation_p.R306S|PTPRC_ENST00000442510.2_Missense_Mutation_p.R469S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	467	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R467C(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAAGTGCAACGTAATGGAAG	0.308000													16	37					0.000422831	0.0029472	0.000422831	1	0
OR10J3	441911	broad.mit.edu	37	1	159284209	159284209	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:159284209G>T	ENST00000332217.5	-	1	240	c.241C>A	c.(241-243)Cat>Aat	p.H81N		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GAAAGCATATGGGGAATGATG	0.493000													40	84					9.39024e-22	1.02779e-20	0.000437636	1	0
OR2T34	127068	broad.mit.edu	37	1	248737440	248737440	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:248737440A>T	ENST00000328782.2	-	1	640	c.619T>A	c.(619-621)Tgc>Agc	p.C207S		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGATGCAGCACAGGTACGTG	0.532000													21	354					0	0	0.000295444	0	0
CDH10	1008	broad.mit.edu	37	5	24509754	24509754	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:24509754C>A	ENST00000264463.4	-	7	1684	c.1177G>T	c.(1177-1179)Gtt>Ttt	p.V393F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	393	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTCATGAACTTCAAACAGA	0.378000										HNSCC(23;0.051)			16	31					7.07596e-05	0.000505787	0.00074312	1	0
AVPR1A	552	broad.mit.edu	37	12	63541299	63541299	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:63541299C>A	ENST00000299178.2	-	2	1202	c.1097G>T	c.(1096-1098)tGc>tTc	p.C366F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	366					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CATGTTTTGGCAGCATGGGAA	0.403000													34	86					2.08457e-15	2.10106e-14	0.000339439	1	0
RND3	390	broad.mit.edu	37	2	151343252	151343252	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:151343252T>A	ENST00000375734.2	-	2	443	c.194A>T	c.(193-195)gAa>gTa	p.E65V	RND3_ENST00000472416.1_5'UTR|RND3_ENST00000263895.4_Missense_Mutation_p.E65V	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	65					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		TGTGTCGATTTCAAAACTGGC	0.498000													23	189					0	0	0.001512	0	0
IGHA2	3494	broad.mit.edu	37	14	106053607	106053607	+	RNA	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:106053607G>T	ENST00000390539.2	-	0	689																											TCACCAGCTCGTTCAGGGCCA	0.682000													14	34					1.52009e-12	1.44874e-11	0.000308642	1	0
ASTN2	23245	broad.mit.edu	37	9	120053696	120053696	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:120053696G>T	ENST00000313400.4	-	2	639	c.539C>A	c.(538-540)tCc>tAc	p.S180Y	ASTN2_ENST00000373996.3_Missense_Mutation_p.S180Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S180Y			O75129	ASTN2_HUMAN	astrotactin 2	180						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGCTGCCCGGAGCTGCTCAT	0.592000													13	43					3.27435e-08	2.59173e-07	0.000219431	1	0
HMCN1	83872	broad.mit.edu	37	1	186064585	186064585	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:186064585G>T	ENST00000271588.4	+	68	10734	c.10505G>T	c.(10504-10506)gGa>gTa	p.G3502V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G3502V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3502	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATTCGGGAAAGTACACC	0.478000													26	67					1.7881e-09	1.48233e-08	0.001512	1	0
SLC12A3	6559	broad.mit.edu	37	16	56928501	56928501	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:56928501G>T	ENST00000438926.2	+	22	2636	c.2607G>T	c.(2605-2607)aaG>aaT	p.K869N	SLC12A3_ENST00000262502.5_Missense_Mutation_p.K859N|SLC12A3_ENST00000563236.1_Missense_Mutation_p.K860N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.K868N	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	860					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	p.K869K(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GCAAATGCAAGATCCGTGTGT	0.572000													11	22					1.11149e-13	1.1044e-12	0.000673444	1	0
ANKAR	150709	broad.mit.edu	37	2	190569878	190569878	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:190569878A>G	ENST00000520309.1	+	8	1926	c.1838A>G	c.(1837-1839)tAt>tGt	p.Y613C	ANKAR_ENST00000313581.4_Missense_Mutation_p.Y613C|ANKAR_ENST00000431575.2_Missense_Mutation_p.Y542C|ANKAR_ENST00000281412.6_Missense_Mutation_p.Y377C|ANKAR_ENST00000438402.2_Missense_Mutation_p.Y613C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	613						integral to membrane	binding	p.Y613C(1)|p.Y542C(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GCCGCTTTCTATGACAACGTT	0.413000													43	93					0	0	0.000437636	0	0
KCNU1	157855	broad.mit.edu	37	8	36766902	36766902	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:36766902C>A	ENST00000399881.3	+	21	2217	c.2180C>A	c.(2179-2181)gCc>gAc	p.A727D		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	727	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCCCACTCAGCCCCGATGGGG	0.468000													158	125					1.4734e-65	1.81074e-64	0.000781405	1	0
SS18L1	26039	broad.mit.edu	37	20	60736500	60736500	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:60736500G>T	ENST00000331758.3	+	4	266	c.240G>T	c.(238-240)acG>acT	p.T80T	SS18L1_ENST00000370848.4_Silent_p.T83T|SS18L1_ENST00000421564.1_Silent_p.T80T	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	80	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			AGCCGCCCACGCAGAACATGA	0.622000			T	SSX1	synovial sarcoma								6	39					0.00116845	0.00798533	0.00116845	1	0
STK11	6794	broad.mit.edu	37	19	1207096	1207096	+	Nonsense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:1207096A>T	ENST00000326873.7	+	1	1357	c.184A>T	c.(184-186)Aag>Tag	p.K62*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	62	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTACGGCAAGGTGAAGGA	0.617000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	12					0	0	0.00136819	0	0
HP1BP3	50809	broad.mit.edu	37	1	21074149	21074149	+	Splice_Site	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:21074149C>A	ENST00000375003.2	-	7	2186		c.e7-1		HP1BP3_ENST00000312239.5_Splice_Site			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		AGCAAATGCACTGAAAAAAAA	0.383000													18	14					5.26018e-13	5.04761e-12	0.00188189	1	0
USP24	23358	broad.mit.edu	37	1	55548983	55548983	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:55548983T>A	ENST00000294383.6	-	58	6936	c.6937A>T	c.(6937-6939)Atc>Ttc	p.I2313F	USP24_ENST00000407756.1_Missense_Mutation_p.I2153F	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2313					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						AGGAAGCTGATCATGTGCCGC	0.428000													5	34					0	0	0.000602214	0	0
CBLN2	147381	broad.mit.edu	37	18	70209322	70209322	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:70209322G>T	ENST00000269503.4	-	3	847	c.74C>A	c.(73-75)cCg>cAg	p.P25Q	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.P25Q|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	25						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCAgccgcccggctcgcgcag	0.786000													8	7					2.74318e-10	2.35779e-09	0.000442599	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	133					0	0	0.000602214	0	0
RYR2	6262	broad.mit.edu	37	1	237947592	237947592	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:237947592G>T	ENST00000366574.2	+	90	12897	c.12580G>T	c.(12580-12582)Gag>Tag	p.E4194*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E4200*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E4178*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4194					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACTTCTGCGAGGACACCAT	0.512000													34	100					1.42033e-22	1.56684e-21	0.000814825	1	0
ACSM2B	348158	broad.mit.edu	37	16	20565132	20565132	+	Nonsense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:20565132G>T	ENST00000329697.6	-	5	875	c.707C>A	c.(706-708)tCg>tAg	p.S236*	ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.S236*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.S236*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.S157*|ACSM2B_ENST00000567288.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	236					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCCCAGGCTCGAGTAGGAATG	0.507000													31	69					9.04072e-19	9.52334e-18	0.00058488	1	0
PARVG	64098	broad.mit.edu	37	22	44592093	44592093	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr22:44592093G>T	ENST00000422871.1	+	10	1066	c.642_splice	c.e10+1	p.E214_splice	PARVG_ENST00000415224.1_Splice_Site_p.E214_splice|PARVG_ENST00000444313.2_Splice_Site_p.E214_splice	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	214	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CAGTGAAAGAGGTAGGAGAGA	0.527000													14	51					9.31168e-06	6.97629e-05	0.00185496	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167779	140167779	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140167779G>A	ENST00000504120.2	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635H|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACTCGTGTCCTGGAC	0.647000													28	51					0	0	0.000878237	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:21752007C>A	ENST00000382254.1	-	15	3310	c.2224G>T	c.(2224-2226)Gaa>Taa	p.E742*	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Nonsense_Mutation_p.E742*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.E702*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACTCCCTTCGTAGGCATAT	0.507000										HNSCC(59;0.17)			28	72					2.12542e-12	2.01196e-11	0.00106085	1	0
TTBK1	84630	broad.mit.edu	37	6	43251598	43251598	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:43251598C>A	ENST00000259750.4	+	14	3203	c.3120C>A	c.(3118-3120)atC>atA	p.I1040I		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1040						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGCCACCATCTCCCCCAGAC	0.662000													9	32					9.70103e-10	8.23705e-09	0.000673444	1	0
ZNF532	55205	broad.mit.edu	37	18	56646334	56646334	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:56646334G>A	ENST00000336078.4	+	9	3974	c.3198G>A	c.(3196-3198)tcG>tcA	p.S1066S	ZNF532_ENST00000589288.1_Silent_p.S1066S|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Silent_p.S1066S|ZNF532_ENST00000591808.1_Silent_p.S1066S|ZNF532_ENST00000591230.1_Silent_p.S1066S	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTTTCAGCTCGTCCCACAGCC	0.507000													26	136					0	0	0.001512	0	0
GUCY2F	2986	broad.mit.edu	37	X	108619377	108619377	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:108619377G>T	ENST00000218006.2	-	18	3461	c.3170C>A	c.(3169-3171)aCc>aAc	p.T1057N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1057					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CAGCCAGAAGGTTTCCTCTGT	0.408000													7	169					6.5536e-12	5.96207e-11	0.000157383	1	0
ZNF716	441234	broad.mit.edu	37	7	57529325	57529325	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:57529325C>G	ENST00000420713.1	+	4	1270	c.1158C>G	c.(1156-1158)ggC>ggG	p.G386G		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAGAATGTGGCAAAGCCTTTA	0.418000													12	24					0	0	0.000978159	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400014	13400014	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:13400014C>G	ENST00000284110.1	-	2	1518	c.721G>C	c.(721-723)Gtg>Ctg	p.V241L	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.V39L	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	241						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCGCACCACCACGATGAGC	0.632000													10	36					0	0	0.000566183	0	0
GJB1	2705	broad.mit.edu	37	X	70444128	70444128	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:70444128A>T	ENST00000374022.3	+	2	666	c.571A>T	c.(571-573)Acc>Tcc	p.T191S	GJB1_ENST00000374029.1_Missense_Mutation_p.T191S|GJB1_ENST00000361726.6_Missense_Mutation_p.T191S	NM_001097642.2	NP_001091111.1	P08034	CXB1_HUMAN	gap junction protein, beta 1, 32kDa	191			Missing (in CMTX1).|T -> A (in CMTX1).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					AACCGTCTTCACCGTCTTCAT	0.632000													5	46					0	0	0.000157383	0	0
OR5I1	10798	broad.mit.edu	37	11	55703675	55703675	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55703675G>A	ENST00000301532.3	-	1	201	c.202C>T	c.(202-204)Cta>Tta	p.L68L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAAATGATAGGTTGCTAAGG	0.393000													9	43					0	0	0.000442599	0	0
ZNF71	58491	broad.mit.edu	37	19	57133759	57133759	+	Silent	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:57133759G>C	ENST00000328070.6	+	3	1338	c.1104G>C	c.(1102-1104)tcG>tcC	p.S368S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	368						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGAACTCCTCGCTCACGCAGC	0.617000													22	41					0	0	0.000720815	0	0
RPL3L	6123	broad.mit.edu	37	16	1995903	1995903	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:1995903T>A	ENST00000268661.7	-	8	1074	c.980A>T	c.(979-981)aAc>aTc	p.N327I		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	327					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAGTCGTTGTTCACTTCCCC	0.602000													20	54					0	0	0.000586117	0	0
GPD2	2820	broad.mit.edu	37	2	157435653	157435653	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:157435653G>T	ENST00000310454.6	+	15	2308	c.1936G>T	c.(1936-1938)Gtt>Ttt	p.V646F	GPD2_ENST00000438166.2_Missense_Mutation_p.V646F|GPD2_ENST00000409674.1_Missense_Mutation_p.V646F|GPD2_ENST00000540309.1_3'UTR|GPD2_ENST00000409125.4_Missense_Mutation_p.V419F	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)	646	EF-hand 1.				cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TATTACCATTGTTGATGTTCA	0.323000													58	160					2.165e-29	2.52764e-28	0.000781405	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	132					0	0	0.000602214	0	0
SERPINA3	12	broad.mit.edu	37	14	95081183	95081183	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:95081183G>A	ENST00000553947.1	+	5	1368	c.480G>A	c.(478-480)ctG>ctA	p.L160L	SERPINA3_ENST00000393078.3_Silent_p.L135L|SERPINA3_ENST00000393080.4_Silent_p.L135L|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000467132.1_Silent_p.L135L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	135					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)		AGCTGCAGCTGAGTATGGGAA	0.547000													9	62					0	0	0.000274275	0	0
C1orf56	54964	broad.mit.edu	37	1	151020753	151020753	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:151020753C>A	ENST00000368926.5	+	1	538	c.430C>A	c.(430-432)Cag>Aag	p.Q144K		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	144						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCCAATAGTCAGGAGCCTGA	0.592000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	38					3.45872e-05	0.000252378	0.000422831	1	0
TPTE	7179	broad.mit.edu	37	21	10970031	10970031	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:10970031C>T	ENST00000298232.7	-	6	464	c.97G>A	c.(97-99)Gag>Aag	p.E33K	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E33K|TPTE_ENST00000342420.5_Missense_Mutation_p.E33K	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	33					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTGCCTCCTCGGTTGCTCCT	0.393000													39	143					0	0	0.000437636	0	0
TRPV6	55503	broad.mit.edu	37	7	142572292	142572292	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:142572292G>C	ENST00000359396.3	-	11	1649	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	468					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCCTCGGGCGAAGTACATGA	0.592000													10	76					0	0	0.000442599	0	0
LRP1B	53353	broad.mit.edu	37	2	141081590	141081590	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:141081590T>C	ENST00000389484.3	-	81	13357	c.12386A>G	c.(12385-12387)tAt>tGt	p.Y4129C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4129					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)		TCCTGCTCCATATATATAATC	0.299000										TSP Lung(27;0.18)			30	88					0	0	0.00178596	0	0
TMEM171	134285	broad.mit.edu	37	5	72419515	72419515	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:72419515G>T	ENST00000454765.2	+	2	788	c.315G>T	c.(313-315)gaG>gaT	p.E105D	TMEM171_ENST00000287773.5_Missense_Mutation_p.E105D			Q8WVE6	TM171_HUMAN	transmembrane protein 171	105						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTGTGGAGAGAGCCGCCAGT	0.612000													20	50					7.45023e-12	6.69088e-11	0.00152264	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47219396	47219396	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:47219396G>T	ENST00000300404.2	+	3	454		c.e3-1		B4GALNT2_ENST00000504681.1_Splice_Site|B4GALNT2_ENST00000393354.2_Splice_Site	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2						lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.?(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GCTTGTTTCAGGCTGTTCCCG	0.498000													29	54					1.38854e-25	1.55628e-24	0.001512	1	0
ITPR2	3709	broad.mit.edu	37	12	26868257	26868257	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:26868257C>A	ENST00000381340.3	-	8	1246	c.830G>T	c.(829-831)aGt>aTt	p.S277I		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	277	MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGCTTTAGAACTAGTAGCAGA	0.358000													14	146					1.37285e-15	1.39374e-14	0.000422831	1	0
ZNF227	7770	broad.mit.edu	37	19	44739842	44739842	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:44739842C>A	ENST00000313040.7	+	6	1464	c.1259C>A	c.(1258-1260)gCt>gAt	p.A420D	ZNF227_ENST00000391961.2_Missense_Mutation_p.A369D|ZNF227_ENST00000589005.1_Missense_Mutation_p.A369D	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TTCACTCAGGCTGCACATTTT	0.488000													10	48					3.86212e-05	0.000277478	0.000673444	1	0
OR8B3	390271	broad.mit.edu	37	11	124266588	124266588	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:124266588G>A	ENST00000354597.3	-	1	676	c.660C>T	c.(658-660)ttC>ttT	p.F220F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGTGACAATGAAAACATAAG	0.403000													39	137					0	0	0.000781405	0	0
BTK	695	broad.mit.edu	37	X	100617612	100617612	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:100617612G>A	ENST00000308731.7	-	6	620	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	BTK_ENST00000372880.1_Missense_Mutation_p.L153F	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	153					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						GAGCAGCAGAGATACTGCCCA	0.433000									Agammaglobulinemia, X-linked				46	97					0	0	0.000781405	0	0
TMEM169	92691	broad.mit.edu	37	2	216964934	216964934	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:216964934A>G	ENST00000454545.1	+	4	889	c.563A>G	c.(562-564)tAc>tGc	p.Y188C	TMEM169_ENST00000406027.2_Missense_Mutation_p.Y188C|TMEM169_ENST00000437356.2_Missense_Mutation_p.Y188C|TMEM169_ENST00000295658.4_Missense_Mutation_p.Y188C	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	188						integral to membrane		p.Y188C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCACCTGGTACAACATCTTC	0.502000													65	126					0	0	0.000781405	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197336	26197336	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:26197336G>A	ENST00000377831.5	-	2	596	c.143C>T	c.(142-144)gCt>gTt	p.A48V	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.A48V	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	48					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTCGCGCAGAGCCACCGTGCC	0.637000													17	63					0	0	0.000566183	0	0
CCKBR	887	broad.mit.edu	37	11	6291510	6291510	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:6291510G>T	ENST00000525462.1	+	3	599	c.596G>T	c.(595-597)gGg>gTg	p.G199V	CCKBR_ENST00000334619.2_Missense_Mutation_p.G199V|CCKBR_ENST00000532715.1_Missense_Mutation_p.G115V			P32239	GASR_HUMAN	cholecystokinin B receptor	161					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAACCAGTGGGGCCTCGTGTG	0.627000													35	54					2.47316e-13	2.44007e-12	0.00058488	1	0
PCDH15	65217	broad.mit.edu	37	10	55663078	55663078	+	Silent	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:55663078T>C	ENST00000373965.2	-	27	3841	c.3447A>G	c.(3445-3447)ccA>ccG	p.P1149P	PCDH15_ENST00000395430.1_Silent_p.P1142P|PCDH15_ENST00000437009.1_Silent_p.P1071P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Silent_p.P753P|PCDH15_ENST00000395433.1_Silent_p.P1120P|PCDH15_ENST00000414778.1_Silent_p.P1147P|PCDH15_ENST00000395432.2_Silent_p.P1105P|PCDH15_ENST00000395438.1_Silent_p.P1142P|PCDH15_ENST00000395445.1_Silent_p.P1149P|PCDH15_ENST00000361849.3_Silent_p.P1142P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Silent_p.P1142P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1142	Cadherin 11.				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)				TCTGAAACACTGGGGGATGAT	0.368000										HNSCC(58;0.16)			5	64					0	0	0.00116845	0	0
IL21	59067	broad.mit.edu	37	4	123542199	123542199	+	Translation_Start_Site	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:123542199G>A	ENST00000264497.3	-	0	25				IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21						cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						CCTTGGTCTCGTTTTCACTTC	0.463000													8	46					0	0	0.000157383	0	0
SLC8A1	6546	broad.mit.edu	37	2	40342578	40342578	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:40342578G>T	ENST00000406785.1	-	8	2818	c.2629C>A	c.(2629-2631)Ctc>Atc	p.L877I	SLC8A1_ENST00000542756.1_Missense_Mutation_p.L908I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.L913I|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.L913I|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.L877I|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.L877I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.L908I|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.L877I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.L905I|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.L877I|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	913					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)	ATGGTGAAGAGAGTGACAGAG	0.577000													11	42					5.50884e-06	4.17183e-05	0.00136819	1	0
BAGE2	85319	broad.mit.edu	37	21	11038832	11038832	+	RNA	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:11038832T>C	ENST00000470054.1	-	0	1371									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGCATGATGTTTCCAGCAGA	0.458000													31	211					0	0	0.000339439	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083684	107083684	+	RNA	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr14:107083684A>G	ENST00000455737.1	-	0	41																											CAGATGTTTCATGTTCTTGCA	0.502000													4	62					0	0	0.00116845	0	0
CACNA1D	776	broad.mit.edu	37	3	53752354	53752354	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:53752354T>A	ENST00000288139.3	+	10	1535	c.1417T>A	c.(1417-1419)Tct>Act	p.S473T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S473T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S473T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	473					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CGAGACTGAGTCTGTGAACAC	0.622000													25	36					0	0	0.001512	0	0
CDH8	1006	broad.mit.edu	37	16	61935283	61935283	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:61935283C>A	ENST00000577390.1	-	3	1301	c.347G>T	c.(346-348)gGa>gTa	p.G116V	CDH8_ENST00000584337.1_Missense_Mutation_p.G116V|CDH8_ENST00000299345.6_Missense_Mutation_p.G116V|CDH8_ENST00000577730.1_Missense_Mutation_p.G116V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	116	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGGATATCTCCAGTTACATC	0.443000													18	72					2.4624e-09	2.01744e-08	0.00121646	1	0
ASXL3	80816	broad.mit.edu	37	18	31323160	31323160	+	Silent	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:31323160T>A	ENST00000269197.5	+	12	3348	c.3348T>A	c.(3346-3348)gcT>gcA	p.A1116A		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGCATCAAGCTCGAGCCCATC	0.522000													7	28					0	0	8.12818e-05	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125261952	125261952	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:125261952C>T	ENST00000431078.1	+	8	1507	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	381	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCTGCTGCCCGGCACCCCCC	0.512000													25	55					0	0	0.00047179	0	0
UXS1	80146	broad.mit.edu	37	2	106715213	106715213	+	Missense_Mutation	SNP	T	T	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:106715213T>G	ENST00000283148.7	-	13	1098	c.1001A>C	c.(1000-1002)cAc>cCc	p.H334P	UXS1_ENST00000540130.1_Missense_Mutation_p.H272P|UXS1_ENST00000409501.3_Missense_Mutation_p.H329P|UXS1_ENST00000409032.1_Missense_Mutation_p.H161P	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	329					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						TAGGATTGTGTGTTCTTCTGG	0.433000													14	19					0	0	0.000308642	0	0
PRSS1	5644	broad.mit.edu	37	7	142460344	142460344	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:142460344G>C	ENST00000486171.1	+	5	576	c.559G>C	c.(559-561)Gcc>Ccc	p.A187P	PRSS1_ENST00000311737.7_Missense_Mutation_p.A173P			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	173	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TAAGTGTGAAGCCTCCTACCC	0.522000													37	292					0	0	0.00128727	0	0
NPR1	4881	broad.mit.edu	37	1	153655879	153655879	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:153655879C>A	ENST00000368680.3	+	6	1763	c.1291C>A	c.(1291-1293)Caa>Aaa	p.Q431K		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	431					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGGACTTCCCAAGAGCTGGT	0.592000													15	25					3.45872e-05	0.000252378	0.000422831	1	0
CENPF	1063	broad.mit.edu	37	1	214832299	214832299	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:214832299C>T	ENST00000366955.3	+	19	9237	c.9069C>T	c.(9067-9069)tcC>tcT	p.S3023S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3119	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TAGCGCTATCCCCACTGAGTC	0.522000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	83					0	0	0.000814825	0	0
OR5F1	338674	broad.mit.edu	37	11	55761571	55761571	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55761571G>T	ENST00000278409.1	-	1	530	c.531C>A	c.(529-531)ttC>ttA	p.F177L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F177L(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGTCACAGAAGAAGTGATGGA	0.473000													23	64					4.72057e-08	3.69471e-07	0.000586117	1	0
MYLK	4638	broad.mit.edu	37	3	123457878	123457878	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:123457878G>A	ENST00000360772.3	-	8	832	c.454C>T	c.(454-456)Cgt>Tgt	p.R152C	MYLK_ENST00000475616.1_Missense_Mutation_p.R152C|MYLK_ENST00000360304.3_Missense_Mutation_p.R152C|MYLK_ENST00000359169.1_Missense_Mutation_p.R152C|MYLK_ENST00000346322.5_Missense_Mutation_p.R152C			Q15746	MYLK_HUMAN	myosin light chain kinase	152					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATGCTAGGACGGGTCTCCACT	0.527000													6	17					0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196774919	196774919	+	Splice_Site	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:196774919T>A	ENST00000312428.6	-	25	4036	c.3935_splice	c.e25-1	p.R1312_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1312	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAATAAGGTTCTGAAACATA	0.408000													10	21					0	0	0.000673444	0	0
TIGIT	201633	broad.mit.edu	37	3	114014445	114014445	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:114014445G>A	ENST00000481065.1	+	3	2931	c.316G>A	c.(316-318)Ggc>Agc	p.G106S	TIGIT_ENST00000486257.1_Missense_Mutation_p.G39S|TIGIT_ENST00000383671.3_Missense_Mutation_p.G39S			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	39	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGAGAAAGGTGGCTCTATCAT	0.522000													62	87					0	0	0.000781405	0	0
RC3H2	54542	broad.mit.edu	37	9	125618088	125618088	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:125618088C>A	ENST00000373670.1	-	13	3124	c.2524G>T	c.(2524-2526)Ggc>Tgc	p.G842C	RC3H2_ENST00000357244.2_Missense_Mutation_p.G842C|RC3H2_ENST00000423239.2_Missense_Mutation_p.G842C			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	842						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CCTATGGTGCCACAAGACCAG	0.378000													14	55					2.61681e-11	2.32035e-10	0.000219431	1	0
CERKL	375298	broad.mit.edu	37	2	182423393	182423393	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:182423393G>T	ENST00000410087.3	-	5	820	c.720C>A	c.(718-720)gcC>gcA	p.A240A	CERKL_ENST00000409440.3_Silent_p.A222A|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000339098.5_Silent_p.A266A|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	266	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAAAGCATGGGCTACTTCGC	0.448000													21	55					3.8784e-16	3.96616e-15	0.00188189	1	0
HEY2	23493	broad.mit.edu	37	6	126080624	126080624	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:126080624G>A	ENST00000368364.3	+	5	887	c.690G>A	c.(688-690)acG>acA	p.T230T	HEY2_ENST00000368365.1_Silent_p.T184T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	230					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCACGGCCACGTTTGCCCATG	0.642000													37	215					0	0	0.00148497	0	0
EPHA5	2044	broad.mit.edu	37	4	66213797	66213797	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:66213797G>T	ENST00000273854.3	-	15	3233	c.2633C>A	c.(2632-2634)cCc>cAc	p.P878H	EPHA5_ENST00000354839.4_Missense_Mutation_p.P856H|EPHA5_ENST00000511294.1_Missense_Mutation_p.P879H|EPHA5_ENST00000432638.2_Missense_Mutation_p.P715H	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	878	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCCCAGTAGGGTCTCTCTCC	0.418000										TSP Lung(17;0.13)			36	75					1.04594e-18	1.09355e-17	0.00128727	1	0
LAMB1	3912	broad.mit.edu	37	7	107626468	107626468	+	Splice_Site	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:107626468C>G	ENST00000393561.1	-	5	931	c.748_splice	c.e5+1	p.Q249_splice	LAMB1_ENST00000222399.6_Splice_Site_p.Q225_splice|LAMB1_ENST00000393560.1_Splice_Site_p.Q225_splice			P07942	LAMB1_HUMAN	laminin, beta 1	225	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAACTTACTCTGTATCCTTG	0.353000													5	27					0	0	0.00116845	0	0
ALMS1	7840	broad.mit.edu	37	2	73653584	73653584	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:73653584G>T	ENST00000264448.6	+	6	1352	c.1241G>T	c.(1240-1242)gGc>gTc	p.G414V	ALMS1_ENST00000409009.1_Missense_Mutation_p.G372V|ALMS1_ENST00000377715.1_Missense_Mutation_p.G414V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	414					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTGTAGAGGGCCTGCAGGGG	0.428000													84	203					2.70612e-23	3.00895e-22	0.000781405	1	0
PMFBP1	83449	broad.mit.edu	37	16	72159967	72159967	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:72159967T>A	ENST00000537465.1	-	15	2326	c.2168A>T	c.(2167-2169)gAg>gTg	p.E723V	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E573V|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E718V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	723										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATAGTGCTTCTCCTTCTGCAG	0.537000													34	185					0	0	0.000491102	0	0
CPNE5	57699	broad.mit.edu	37	6	36710132	36710132	+	Silent	SNP	C	C	A	rs144328823		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:36710132C>A	ENST00000244751.2	-	21	2319	c.1695G>T	c.(1693-1695)ccG>ccT	p.P565P	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Silent_p.P273P	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	565										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTGGGGGACGCGGGCGAATGC	0.682000													21	43					2.21704e-12	2.08461e-11	0.000375601	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90577242	90577242	+	RNA	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:90577242G>T	ENST00000551025.1	+	0	5670							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTTTGAAGTGTCTACTAACC	0.383000													35	43					1.36161e-19	1.4562e-18	0.000814825	1	0
ERBB2	2064	broad.mit.edu	37	17	37871593	37871593	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:37871593G>A	ENST00000406381.2	+	12	1623	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	ERBB2_ENST00000540147.1_Silent_p.E371E|ERBB2_ENST00000541774.1_Silent_p.E386E|ERBB2_ENST00000578199.1_Silent_p.E371E|ERBB2_ENST00000445658.2_Silent_p.E125E|ERBB2_ENST00000584601.1_Silent_p.E371E|ERBB2_ENST00000584450.1_Silent_p.E401E|ERBB2_ENST00000269571.5_Silent_p.E401E|ERBB2_ENST00000540042.1_Silent_p.E371E	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	401					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AAGTGTTTGAGACTCTGGAAG	0.607000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			9	20					0	0	0.000673444	0	0
VTN	7448	broad.mit.edu	37	17	26695960	26695960	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:26695960G>T	ENST00000226218.4	-	5	1377	c.759C>A	c.(757-759)aaC>aaA	p.N253K	SEBOX_ENST00000536498.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	253					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.N253N(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CTGCATCCACGTTGTCCGGGA	0.592000													10	87					4.3838e-07	3.37456e-06	0.00185496	1	0
COMMD4	54939	broad.mit.edu	37	15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P|COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm	protein binding	p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622000													3	32					0	0	0.00024832	0	0
PGBD2	267002	broad.mit.edu	37	1	249211989	249211989	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:249211989C>A	ENST00000355360.4	+	3	723	c.453C>A	c.(451-453)gtC>gtA	p.V151V	PGBD2_ENST00000539153.1_Silent_p.V399V|PGBD2_ENST00000329291.5_Silent_p.V402V	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	402								p.V151V(1)|p.V402V(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATTACAAAGTCGATGAGAGTG	0.498000													10	67					7.48243e-07	5.72835e-06	0.000442599	1	0
ZNF217	7764	broad.mit.edu	37	20	52192804	52192804	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:52192804G>A	ENST00000371471.2	-	4	2924	c.2499C>T	c.(2497-2499)gcC>gcT	p.A833A	ZNF217_ENST00000302342.3_Silent_p.A833A			O75362	ZN217_HUMAN	zinc finger protein 217	833					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GTTGCCTGGTGGCGGCCCCTT	0.517000													65	78					0	0	0.000781405	0	0
HOXD8	3234	broad.mit.edu	37	2	176995628	176995628	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:176995628G>C	ENST00000313173.4	+	1	1161	c.534G>C	c.(532-534)caG>caC	p.Q178H	HOXD8_ENST00000450510.2_Missense_Mutation_p.Q178H|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_5'UTR|HOXD8_ENST00000548663.1_Missense_Mutation_p.Q74H|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q178H	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	178					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACTTAAATCAGAGCTCGTCTC	0.463000													28	69					0	0	0.001512	0	0
PCK1	5105	broad.mit.edu	37	20	56138656	56138656	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:56138656G>A	ENST00000319441.4	+	6	998	c.834G>A	c.(832-834)aaG>aaA	p.K278K	PCK1_ENST00000535860.1_Silent_p.K146K|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	278					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GTGAGAAGAAGTACCTGGCGG	0.557000													9	50					0	0	0.000442599	0	0
STK33	65975	broad.mit.edu	37	11	8435086	8435086	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:8435086C>T	ENST00000447869.1	-	11	2218	c.1300G>A	c.(1300-1302)Gtc>Atc	p.V434I	STK33_ENST00000473980.1_5'UTR|STK33_ENST00000315204.1_Missense_Mutation_p.V434I|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Missense_Mutation_p.V247I|STK33_ENST00000534493.1_Missense_Mutation_p.V393I|STK33_ENST00000396672.1_Missense_Mutation_p.V434I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	434						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		GCATCAGGGACATTTCCCCAG	0.418000													39	195					0	0	0.000781405	0	0
FAM135B	51059	broad.mit.edu	37	8	139255183	139255183	+	Splice_Site	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:139255183A>G	ENST00000395297.1	-	7	840		c.e7+1			NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B											NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGGCCTTACCTCTGAGGA	0.458000										HNSCC(54;0.14)			14	110					0	0	0.00074312	0	0
ASTN2	23245	broad.mit.edu	37	9	119977013	119977013	+	Silent	SNP	G	G	T	rs7856949		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:119977013G>T	ENST00000313400.4	-	3	739	c.639C>A	c.(637-639)ctC>ctA	p.L213L	ASTN2_ENST00000373996.3_Silent_p.L213L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.L213L			O75129	ASTN2_HUMAN	astrotactin 2	213						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGCGCGATGAGGCCACCCT	0.612000													10	33					2.68362e-12	2.5065e-11	0.00136819	1	0
GCLC	2729	broad.mit.edu	37	6	53365045	53365045	+	Splice_Site	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:53365045C>A	ENST00000229416.6	-	14	2064	c.1581_splice	c.e14+1	p.K527_splice		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	527					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ACCCTCCTACCTTCCCATTGA	0.557000													25	54					3.28513e-13	3.21851e-12	0.000586117	1	0
RRP8	23378	broad.mit.edu	37	11	6622684	6622684	+	Silent	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:6622684T>A	ENST00000254605.6	-	3	729	c.612A>T	c.(610-612)ccA>ccT	p.P204P	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	204					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCACCTGAGGTGGCTGAAACT	0.582000													21	45					0	0	0.00152264	0	0
UGT1A10	54575	broad.mit.edu	37	2	234546000	234546000	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:234546000C>A	ENST00000344644.5	+	1	901	c.832C>A	c.(832-834)Cat>Aat	p.H278N	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.H278N	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TATCAACTGTCATCAGGGAAA	0.413000													76	224					5.02048e-33	6.0117e-32	0.000781405	1	0
PCDHA9	9752	broad.mit.edu	37	5	140389282	140389282	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140389282C>A	ENST00000532602.1	+	4	3646	c.2613C>A	c.(2611-2613)taC>taA	p.Y871*	PCDHA10_ENST00000506939.2_Nonsense_Mutation_p.Y606*|PCDHA7_ENST00000525929.1_Nonsense_Mutation_p.Y858*|PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.Y857*|PCDHA2_ENST00000526136.1_Nonsense_Mutation_p.Y869*|PCDHA13_ENST00000409494.1_Nonsense_Mutation_p.Y871*|PCDHA10_ENST00000307360.5_Nonsense_Mutation_p.Y869*|PCDHA4_ENST00000512229.2_Nonsense_Mutation_p.Y868*|PCDHA3_ENST00000522353.2_Nonsense_Mutation_p.Y871*|PCDHAC1_ENST00000253807.2_Nonsense_Mutation_p.Y884*|PCDHAC2_ENST00000289269.5_Nonsense_Mutation_p.Y928*|PCDHA1_ENST00000504120.2_Nonsense_Mutation_p.Y871*|PCDHA6_ENST00000529310.1_Nonsense_Mutation_p.Y871*|PCDHA5_ENST00000529859.1_Nonsense_Mutation_p.Y857*|PCDHA8_ENST00000531613.1_Nonsense_Mutation_p.Y871*|PCDHA12_ENST00000398631.2_Nonsense_Mutation_p.Y862*|PCDHA11_ENST00000398640.2_Nonsense_Mutation_p.Y870*|PCDHA13_ENST00000289272.2_Nonsense_Mutation_p.Y871*|PCDHA4_ENST00000530339.1_Nonsense_Mutation_p.Y868*|PCDHA6_ENST00000527624.1_Nonsense_Mutation_p.Y607*|PCDHA1_ENST00000394633.3_Nonsense_Mutation_p.Y607*	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTTAAATACGGACCAGGCA	0.507000													25	62					7.07758e-08	5.47828e-07	0.000720815	1	0
MAGEL2	54551	broad.mit.edu	37	15	23890281	23890281	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:23890281T>A	ENST00000532292.1	-	1	894	c.800A>T	c.(799-801)gAg>gTg	p.E267V		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGGAGGCCTCTTGAGTGGT	0.632000													22	37					0	0	0.000295444	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996316	19996316	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:19996316G>C	ENST00000391403.2	-	1	1562	c.1459C>G	c.(1459-1461)Cca>Gca	p.P487A		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	487						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGACCATATGGGGAATGCTGT	0.403000													57	94					0	0	0.000781405	0	0
TTI1	9675	broad.mit.edu	37	20	36640312	36640312	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:36640312T>A	ENST00000373448.2	-	3	2145	c.1907A>T	c.(1906-1908)cAg>cTg	p.Q636L	TTI1_ENST00000449821.1_Missense_Mutation_p.Q636L|TTI1_ENST00000373447.3_Missense_Mutation_p.Q636L|TTI1_ENST00000487362.1_5'UTR	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	636							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						ATATGCAAACTGGCCAATTCC	0.433000													64	55					0	0	0.000781405	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239268	2239268	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:2239268C>A	ENST00000343516.6	-	5	549	c.457G>T	c.(457-459)Gac>Tac	p.D153Y		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	153					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGGCCAGGTCCAGGGGCGTC	0.672000													9	15					2.17888e-05	0.000160664	0.000442599	1	0
KIDINS220	57498	broad.mit.edu	37	2	8940623	8940623	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:8940623C>A	ENST00000256707.3	-	9	988	c.807G>T	c.(805-807)ggG>ggT	p.G269G	KIDINS220_ENST00000319688.5_Silent_p.G270G|KIDINS220_ENST00000427284.1_Silent_p.G269G|KIDINS220_ENST00000418530.1_Silent_p.G227G|KIDINS220_ENST00000473731.1_Silent_p.G269G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	269					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACACAGTATCCCCACTCTAAG	0.343000													79	136					7.14593e-30	8.41298e-29	0.000781405	1	0
RGS22	26166	broad.mit.edu	37	8	100975116	100975116	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:100975116C>A	ENST00000360863.6	-	25	3900	c.3706G>T	c.(3706-3708)Gca>Tca	p.A1236S	RGS22_ENST00000523287.1_Missense_Mutation_p.A1055S|RGS22_ENST00000523437.1_Missense_Mutation_p.A1224S	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1236					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAATTACCTGCAAACAACTTT	0.308000													5	78					0.000602214	0.00415617	0.000602214	1	0
TAF1	6872	broad.mit.edu	37	X	70595136	70595136	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:70595136G>T	ENST00000449580.1	+	4	583	c.532_splice	c.e4+1	p.E178_splice	TAF1_ENST00000423759.1_Splice_Site_p.V178_splice|TAF1_ENST00000276072.3_Splice_Site_p.V178_splice|TAF1_ENST00000373790.4_Splice_Site_p.E178_splice			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	178	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TATTACTGGTGGTAAGTAGAG	0.443000													8	47					1.12685e-05	8.39744e-05	0.000274275	1	0
FAM131B	9715	broad.mit.edu	37	7	143054005	143054005	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:143054005C>A	ENST00000409408.1	-	6	2345	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	FAM131B_ENST00000409578.1_Missense_Mutation_p.A229S|FAM131B_ENST00000443739.2_Missense_Mutation_p.A241S|FAM131B_ENST00000409222.3_Missense_Mutation_p.A213S|FAM131B_ENST00000409346.1_Missense_Mutation_p.A213S			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	213										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCCGGAGAGGCAATGAGGGAC	0.552000													25	33					3.08376e-08	2.45474e-07	0.00047179	1	0
ZNF23	7571	broad.mit.edu	37	16	71483658	71483658	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:71483658C>G	ENST00000393539.2	-	6	1083	c.270G>C	c.(268-270)caG>caC	p.Q90H	ZNF23_ENST00000417828.1_Missense_Mutation_p.Q90H|ZNF23_ENST00000428724.2_Missense_Mutation_p.Q32H|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.Q90H|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.Q32H|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AGTGGACTTCCTGTTGTTTCT	0.403000													46	112					0	0	0.000589545	0	0
PDE6B	5158	broad.mit.edu	37	4	628465	628465	+	Splice_Site	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:628465G>T	ENST00000255622.6	+	2	511		c.e2-1		PDE6B_ENST00000496514.1_Splice_Site	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCTTGCGGCAGTGCCCTCACT	0.582000													31	48					1.61788e-16	1.66665e-15	0.000409698	1	0
EPPK1	83481	broad.mit.edu	37	8	144940555	144940555	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:144940555C>G	ENST00000525985.1	-	2	6938	c.6867G>C	c.(6865-6867)gcG>gcC	p.A2289A				P58107	EPIPL_HUMAN	epiplakin 1	2289						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACCACGCCCGCGGCCACGG	0.726000													8	98					0	0	0.000673444	0	0
VN1R1	57191	broad.mit.edu	37	19	57967590	57967590	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:57967590G>T	ENST00000321039.3	-	1	264	c.265C>A	c.(265-267)Caa>Aaa	p.Q89K	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	89					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		AAGGCCAGTTGGCTGAGAATC	0.423000													16	40					6.72482e-11	5.88842e-10	0.000308642	1	0
GABBR1	2550	broad.mit.edu	37	6	29577119	29577119	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:29577119C>A	ENST00000377034.4	-	15	2081	c.1746G>T	c.(1744-1746)aaG>aaT	p.K582N	GABBR1_ENST00000377012.4_Missense_Mutation_p.K465N|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000355973.3_Missense_Mutation_p.K465N|GABBR1_ENST00000377016.4_Missense_Mutation_p.K520N	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	582					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	AGCGGAATGTCTTGATGACCA	0.527000													19	41					2.4624e-09	2.01744e-08	0.00121646	1	0
FBXO18	84893	broad.mit.edu	37	10	5948591	5948591	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:5948591C>A	ENST00000379999.5	+	4	1006	c.902C>A	c.(901-903)cCg>cAg	p.P301Q	FBXO18_ENST00000379994.1_5'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.P250Q|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	250					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						ATCAGTGACCCGCTGGTGAGT	0.498000													4	66					0.000602214	0.00415617	0.000602214	1	0
LPA	4018	broad.mit.edu	37	6	161020611	161020611	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:161020611C>G	ENST00000447678.1	-	21	3328	c.3208G>C	c.(3208-3210)Gtc>Ctc	p.V1070L	LPA_ENST00000316300.5_Missense_Mutation_p.V1070L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3578	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTTCCTGTGACAGTGGTGGAG	0.483000													164	273					0	0	0.000781405	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996758	228996758	+	Nonsense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:228996758G>A	ENST00000392056.3	-	2	122	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.Q26*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	26						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCTCTGCCCTGCTGCGGTTCC	0.488000													35	92					0	0	0.00148497	0	0
RAI1	10743	broad.mit.edu	37	17	17707136	17707136	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:17707136T>A	ENST00000353383.1	+	4	6101	c.5632T>A	c.(5632-5634)Tac>Aac	p.Y1878N	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1878						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTCCACACCTACCACTACCC	0.612000													24	27					0	0	0.000586117	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725707	140725707	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:140725707G>A	ENST00000253812.6	+	1	2107	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTCCTGCGTCTTCCTGGC	0.682000													17	91					0	0	0.00188189	0	0
ATM	472	broad.mit.edu	37	11	108236220	108236220	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:108236220G>C	ENST00000278616.4	+	63	9541	c.9156G>C	c.(9154-9156)tgG>tgC	p.W3052C	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.W3052C|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	3052	FATC.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCCCAGGATGGAAAGCTTGGG	0.408000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			11	17					0	0	0.00136819	0	0
TMEM56	148534	broad.mit.edu	37	1	95615786	95615786	+	Missense_Mutation	SNP	G	G	A	rs147035436		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:95615786G>A	ENST00000370203.4	+	4	559	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V90M	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	90	TLC.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		ACTTGCAAACGTGAATATTGC	0.333000													6	33					0	0	0.000274275	0	0
PHTF1	10745	broad.mit.edu	37	1	114255907	114255907	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:114255907G>A	ENST00000369604.1	-	8	1260	c.777C>T	c.(775-777)tgC>tgT	p.C259C	PHTF1_ENST00000357783.2_Silent_p.C259C|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369596.2_Silent_p.C206C|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000393357.2_Silent_p.C259C|PHTF1_ENST00000369600.1_Silent_p.C206C|PHTF1_ENST00000369598.1_Silent_p.C214C			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	259						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTACCCTACGGCACTTTTCTC	0.363000													30	50					0	0	0.000491102	0	0
OR5T2	219464	broad.mit.edu	37	11	55999864	55999864	+	Missense_Mutation	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55999864C>G	ENST00000313264.4	-	1	873	c.798G>C	c.(796-798)aaG>aaC	p.K266N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CAGAATACATCTTCAGAATGG	0.433000													26	115					0	0	0.00106085	0	0
DEDD	9191	broad.mit.edu	37	1	161092140	161092140	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:161092140C>T	ENST00000392188.1	-	6	1078	c.844G>A	c.(844-846)Gag>Aag	p.E282K	DEDD_ENST00000458050.2_Missense_Mutation_p.E252K|DEDD_ENST00000545495.1_Missense_Mutation_p.E252K|DEDD_ENST00000489249.1_5'UTR|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.E282K|DEDD_ENST00000368006.3_Missense_Mutation_p.E252K			O75618	DEDD_HUMAN	death effector domain containing	252					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TAGGTGAGCTCAGAGAACTTG	0.517000													10	93					0	0	0.00185496	0	0
METTL15	196074	broad.mit.edu	37	11	28135017	28135017	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:28135017C>T	ENST00000342303.5	+	3	591	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	METTL15_ENST00000407364.3_Missense_Mutation_p.R46W|METTL15_ENST00000406787.3_Missense_Mutation_p.R46W|METTL15_ENST00000403099.1_Missense_Mutation_p.R46W|METTL15_ENST00000303459.6_Missense_Mutation_p.R46W|METTL15_ENST00000379199.2_Missense_Mutation_p.R46W	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	46							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						ATATGAAGCCCGGGAGCAAAC	0.388000													18	35					0	0	0.000566183	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058248	152058248	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:152058248C>A	ENST00000368806.1	-	3	1974	c.1910G>T	c.(1909-1911)gGc>gTc	p.G637V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	637							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGTCCCTGGGCCTTGATTCTT	0.542000													29	76					1.12875e-08	9.0884e-08	0.00106085	1	0
RUNX1	861	broad.mit.edu	37	21	36231782	36231782	+	Missense_Mutation	SNP	C	C	T	rs74315450		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:36231782C>T	ENST00000344691.4	-	3	2098	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	RUNX1_ENST00000358356.5_Missense_Mutation_p.R174Q|RUNX1_ENST00000437180.1_Missense_Mutation_p.R201Q|RUNX1_ENST00000325074.5_Missense_Mutation_p.R189Q|RUNX1_ENST00000300305.3_Missense_Mutation_p.R201Q|RUNX1_ENST00000399240.1_Missense_Mutation_p.R174Q|RUNX1_ENST00000486278.2_Missense_Mutation_p.R177Q	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	174	Interaction with DNA.|Runt.		R -> Q (in FPDMM; impaired phosphorylation).		myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.R201Q(8)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCGAGGTTCTCGGGGCCCATC	0.552000			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								38	67					0	0	0.00128727	0	0
TRPA1	8989	broad.mit.edu	37	8	72970051	72970051	+	Splice_Site	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:72970051C>A	ENST00000262209.4	-	9	1201	c.993_splice	c.e9-1	p.G332_splice		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	332						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATCTGCTCCCTAAAAATCA	0.323000													32	31					2.85442e-18	2.96225e-17	0.000339439	1	0
ACTC1	70	broad.mit.edu	37	15	35084734	35084734	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:35084734T>C	ENST00000290378.4	-	4	1146	c.491A>G	c.(490-492)aAt>aGt	p.N164S	ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	164					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		GATGGGGACATTGTGAGTTAC	0.537000													19	46					0	0	0.000375601	0	0
PTPRD	5789	broad.mit.edu	37	9	8486234	8486234	+	Silent	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:8486234G>C	ENST00000381196.4	-	25	3126	c.2583C>G	c.(2581-2583)ggC>ggG	p.G861G	PTPRD_ENST00000356435.5_Silent_p.G861G|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000540109.1_Silent_p.G861G|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000358503.5_Silent_p.G839G|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000360074.4_Silent_p.G848G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	861	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCCTTGCGGCCAAATTTTA	0.468000										TSP Lung(15;0.13)			42	38					0	0	0.000437636	0	0
VWA8	23078	broad.mit.edu	37	13	42273408	42273408	+	Splice_Site	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr13:42273408T>A	ENST00000379310.3	-	29	3433		c.e29-2			NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GCTCATTTTCTGAAATGACAA	0.383000													48	36					0	0	0.000781405	0	0
TENM1	10178	broad.mit.edu	37	X	123587225	123587225	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:123587225G>T	ENST00000422452.2	-	23	4129	c.4066C>A	c.(4066-4068)Caa>Aaa	p.Q1356K	TENM1_ENST00000371130.3_Missense_Mutation_p.Q1349K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTCAGTGGTTGTGTGGAAGTC	0.403000													51	69					4.02871e-13	3.9196e-12	0.000781405	1	0
RARRES3	5920	broad.mit.edu	37	11	63312110	63312110	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:63312110G>T	ENST00000439013.2	+	3	189	c.136G>T	c.(136-138)Ggc>Tgc	p.G46C	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.G46C|RARRES3_ENST00000255688.3_Missense_Mutation_p.G46C			Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	46					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CCCCGGGGCTGGCTCCTCCAG	0.562000													11	208					6.72482e-11	5.88842e-10	0.000308642	1	0
MYH8	4626	broad.mit.edu	37	17	10301845	10301845	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:10301845G>T	ENST00000403437.2	-	30	4188	c.4094C>A	c.(4093-4095)tCc>tAc	p.S1365Y	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1365					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GTTGGCCTTGGACAGCGCCCT	0.597000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				60	94					3.37043e-27	3.839e-26	0.000781405	1	0
TRPS1	7227	broad.mit.edu	37	8	116632147	116632147	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:116632147C>A	ENST00000395715.3	-	3	755	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	TRPS1_ENST00000519076.1_Missense_Mutation_p.D47Y|TRPS1_ENST00000220888.5_Missense_Mutation_p.D47Y|TRPS1_ENST00000520276.1_Missense_Mutation_p.D51Y|TRPS1_ENST00000519674.1_Missense_Mutation_p.D47Y	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	47					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TCACTCTGATCCGTATTTTCT	0.428000									Langer-Giedion syndrome				62	46					1.69475e-38	2.04685e-37	0.000781405	1	0
SYNJ1	8867	broad.mit.edu	37	21	34037310	34037310	+	Silent	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:34037310G>A	ENST00000382499.2	-	18	2333	c.2334C>T	c.(2332-2334)aaC>aaT	p.N778N	SYNJ1_ENST00000433931.2_Silent_p.N778N|SYNJ1_ENST00000382491.3_Silent_p.N734N|SYNJ1_ENST00000357345.3_Silent_p.N739N|SYNJ1_ENST00000322229.7_Silent_p.N739N	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	739	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TAACTTCTTCGTTAGGGAGAT	0.353000													9	32					0	0	0.000978159	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253972	134253972	+	Silent	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:134253972G>T	ENST00000524765.1	-	3	4767	c.223C>A	c.(223-225)Cgg>Agg	p.R75R	B3GAT1_ENST00000312527.4_Silent_p.R75R|B3GAT1_ENST00000537389.1_Silent_p.R88R|B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Silent_p.R75R			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	75					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GGCGGGGGCCGCGTGTACACG	0.701000													5	5					1.23904e-05	9.18463e-05	0.000602214	1	0
ACSL4	2182	broad.mit.edu	37	X	108904811	108904811	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:108904811G>T	ENST00000340800.2	-	15	2273	c.1769C>A	c.(1768-1770)gCt>gAt	p.A590D	ACSL4_ENST00000469796.2_Missense_Mutation_p.A590D|ACSL4_ENST00000348502.6_Missense_Mutation_p.A549D	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	590					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CTTCAGTGCAGCTTCTACTTT	0.333000													8	97					2.74318e-10	2.35779e-09	0.000442599	1	0
SLC39A12	221074	broad.mit.edu	37	10	18280116	18280116	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:18280116G>T	ENST00000377369.2	+	8	1579	c.1306G>T	c.(1306-1308)Ggg>Tgg	p.G436W	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G436W|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G436W|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G302W	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	436					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCCAGAATTTGGGCATTTCCA	0.358000													48	72					1.07234e-20	1.15566e-19	0.000781405	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128840287	128840287	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:128840287C>A	ENST00000310343.9	-	22	4778	c.4779G>T	c.(4777-4779)atG>atT	p.M1593I	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.M1244I|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.M1244I|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1593	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGAGCGAATCATGGAAGACG	0.532000													6	37					6.5536e-12	5.96207e-11	0.000157383	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735562	55735562	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:55735562C>A	ENST00000312345.2	-	1	428	c.378G>T	c.(376-378)gtG>gtT	p.V126V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTGGTTCATCACTAGAGGAT	0.438000													13	49					0.00010058	0.000708103	0.00136819	1	0
PYHIN1	149628	broad.mit.edu	37	1	158914690	158914690	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:158914690G>A	ENST00000368140.1	+	7	1462	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	PYHIN1_ENST00000368138.3_Missense_Mutation_p.S397N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.S397N|PYHIN1_ENST00000392254.2_Missense_Mutation_p.S406N|PYHIN1_ENST00000485134.1_3'UTR	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	406					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AACCAGAGAAGCCATGACTCC	0.388000													6	56					0	0	0.00116845	0	0
TULP4	56995	broad.mit.edu	37	6	158919845	158919845	+	Splice_Site	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:158919845G>A	ENST00000367097.3	+	12	3371		c.e12+1		TULP4_ENST00000367094.2_Splice_Site	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4						intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATTTACCAGGTGTGTTCACA	0.423000													6	110					0	0	0.000442599	0	0
KRT20	54474	broad.mit.edu	37	17	39036991	39036991	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:39036991C>A	ENST00000167588.3	-	3	546	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	169	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCAGCTTCCACTGTTAGACGT	0.378000													44	64					3.7052e-28	4.25491e-27	0.000680045	1	0
FECH	2235	broad.mit.edu	37	18	55247425	55247425	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:55247425G>C	ENST00000262093.5	-	2	225	c.74C>G	c.(73-75)tCc>tGc	p.S25C	FECH_ENST00000382873.3_Missense_Mutation_p.S25C|FECH_ENST00000585699.1_Intron	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	25					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CCAGCTGCTGGATGCCACTGT	0.488000													4	58					0	0	0.00024832	0	0
GLI3	2737	broad.mit.edu	37	7	42005353	42005353	+	Silent	SNP	T	T	A	rs148780793		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:42005353T>A	ENST00000395925.3	-	15	3402	c.3318A>T	c.(3316-3318)gcA>gcT	p.A1106A	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1106					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTCGTACCCTGCTTGGTTCT	0.622000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				18	68					0	0	0.000958276	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596628	97596628	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:97596628A>T	ENST00000182096.4	+	1	810	c.746A>T	c.(745-747)tAt>tTt	p.Y249F		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAGAATTCATATGTGATGCCA	0.448000													12	12					0	0	0.00185496	0	0
CNOT1	23019	broad.mit.edu	37	16	58590826	58590826	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:58590826C>A	ENST00000317147.5	-	19	2736	c.2404G>T	c.(2404-2406)Gac>Tac	p.D802Y	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Missense_Mutation_p.D802Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.D802Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	802					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)		ACAAAAGGGTCGTTATTCACT	0.493000													7	48					2.0095e-06	1.53006e-05	8.12818e-05	1	0
MUM1L1	139221	broad.mit.edu	37	X	105449717	105449717	+	Missense_Mutation	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:105449717A>G	ENST00000337685.2	+	5	1077	c.292A>G	c.(292-294)Aat>Gat	p.N98D	MUM1L1_ENST00000357175.2_Missense_Mutation_p.N98D|MUM1L1_ENST00000372552.1_Missense_Mutation_p.N98D	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	98										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGTATTCTGAATGAGAGAAC	0.453000													23	23					0	0	0.000586117	0	0
BTK	695	broad.mit.edu	37	X	100617598	100617598	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:100617598C>A	ENST00000308731.7	-	6	634	c.471G>T	c.(469-471)caG>caT	p.Q157H	BTK_ENST00000372880.1_Missense_Mutation_p.Q157H	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	157					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						TTTTGGCTGTCTGAGAGCAGC	0.433000									Agammaglobulinemia, X-linked				49	81					2.9001e-28	3.35789e-27	0.000781405	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			14	14					0	0	0.000308642	0	0
ERBB4	2066	broad.mit.edu	37	2	212248358	212248358	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:212248358G>T	ENST00000342788.4	-	28	4219	c.3909C>A	c.(3907-3909)caC>caA	p.H1303Q	ERBB4_ENST00000436443.1_Missense_Mutation_p.H1287Q|ERBB4_ENST00000402597.1_Missense_Mutation_p.H1293Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1303					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAGTATTCCGGTGTCTGTAAG	0.537000										TSP Lung(8;0.080)			19	53					4.96729e-08	3.86621e-07	0.00121646	1	0
KLHL35	283212	broad.mit.edu	37	11	75134888	75134888	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:75134888G>T	ENST00000539798.1	-	5	1410	c.1411C>A	c.(1411-1413)Ctg>Atg	p.L471M	KLHL35_ENST00000376292.4_Missense_Mutation_p.L251M	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	251										lung(2)|stomach(1)	3						GGTGACCGCAGGCTCCACCGG	0.602000													22	38					1.50039e-11	1.33888e-10	0.00188189	1	0
DIDO1	11083	broad.mit.edu	37	20	61512066	61512066	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr20:61512066G>T	ENST00000266070.4	-	16	5567	c.5242C>A	c.(5242-5244)Ccc>Acc	p.P1748T	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1748T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1748	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAAACGGGGGCTGAGAGCCC	0.677000													11	66					9.31168e-06	6.97629e-05	0.00185496	1	0
PTCHD3	374308	broad.mit.edu	37	10	27703133	27703133	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:27703133G>T	ENST00000438700.3	-	1	164	c.47C>A	c.(46-48)cCc>cAc	p.P16H		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	16					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGTGAGCTTGGGCTTCTGCTC	0.642000													18	68					7.45023e-12	6.69088e-11	0.00152264	1	0
IGLL1	3543	broad.mit.edu	37	22	23915496	23915496	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr22:23915496C>A	ENST00000330377.2	-	3	716	c.599G>T	c.(598-600)gGg>gTg	p.G200V	IGLL1_ENST00000249053.3_3'UTR|AP000345.2_ENST00000458318.1_RNA	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	200	C region (By similarity to lambda light- chain).|Ig-like C1-type.				immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CACGGTGCTCCCTTCGTGCAT	0.627000													12	34					0.00010058	0.000708103	0.00136819	1	0
CDH19	28513	broad.mit.edu	37	18	64172507	64172507	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr18:64172507G>A	ENST00000262150.2	-	12	2153	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	CDH19_ENST00000540086.1_3'UTR	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	621					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGTTTTCTCCGTTGTTTTAAA	0.328000													20	113					0	0	0.00188189	0	0
CHST15	51363	broad.mit.edu	37	10	125805280	125805280	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:125805280G>T	ENST00000346248.5	-	2	1091	c.449C>A	c.(448-450)cCa>cAa	p.P150Q	CHST15_ENST00000421115.1_Missense_Mutation_p.P150Q|CHST15_ENST00000435907.1_Missense_Mutation_p.P150Q	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	150					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTAATGCTTGGATAGTCCTT	0.433000													9	307					0.000673444	0.00462498	0.000673444	1	0
LYN	4067	broad.mit.edu	37	8	56911984	56911984	+	Missense_Mutation	SNP	G	G	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:56911984G>C	ENST00000520220.2	+	12	1423	c.1149G>C	c.(1147-1149)aaG>aaC	p.K383N	LYN_ENST00000519728.1_Missense_Mutation_p.K404N	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	404	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			TAGGTGCTAAGTTCCCTATTA	0.368000													9	128					0	0	0.000978159	0	0
NDST1	3340	broad.mit.edu	37	5	149901013	149901013	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:149901013G>T	ENST00000261797.6	+	2	699	c.197G>T	c.(196-198)cGc>cTc	p.R66L	NDST1_ENST00000523767.1_Missense_Mutation_p.R66L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	66	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCCCAGTCGCCTGCTGCCA	0.672000													11	31					3.86212e-05	0.000277478	0.000673444	1	0
EPN2	22905	broad.mit.edu	37	17	19186773	19186773	+	Missense_Mutation	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:19186773G>A	ENST00000314728.5	+	3	825	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	EPN2_ENST00000575595.1_Intron|EPN2_ENST00000395626.1_Missense_Mutation_p.R114Q|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.R114Q|EPN2_ENST00000571254.1_Missense_Mutation_p.R114Q|EPN2_ENST00000395620.2_Missense_Mutation_p.R114Q	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	114	ENTH.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TACATTGACCGAGATGGCAAG	0.572000													18	25					0	0	0.000566183	0	0
KIT	3815	broad.mit.edu	37	4	55594049	55594049	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:55594049T>C	ENST00000288135.5	+	12	1932	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	612	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATGGCTTAATTAAGTCAGAT	0.483000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				16	49					0	0	0.00152264	0	0
SYT11	23208	broad.mit.edu	37	1	155838433	155838433	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:155838433C>A	ENST00000368324.4	+	2	965	c.712C>A	c.(712-714)Cag>Aag	p.Q238K	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	238	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CAGCCAGCTGCAGGACCTGGT	0.587000													18	39					1.67942e-08	1.34449e-07	0.00074312	1	0
RREB1	6239	broad.mit.edu	37	6	7231254	7231254	+	Silent	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:7231254A>T	ENST00000379938.2	+	10	3459	c.2922A>T	c.(2920-2922)gcA>gcT	p.A974A	RREB1_ENST00000379933.3_Silent_p.A974A|RREB1_ENST00000349384.6_Silent_p.A974A|RREB1_ENST00000334984.6_Silent_p.A974A	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	974	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTGCCCAGCACCCGGCCCTT	0.662000													13	26					0	0	0.00136819	0	0
AFF2	2334	broad.mit.edu	37	X	148048494	148048494	+	Missense_Mutation	SNP	A	A	G	rs149653283	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chrX:148048494A>G	ENST00000370460.2	+	14	3567	c.3088A>G	c.(3088-3090)Atc>Gtc	p.I1030V	AFF2_ENST00000370457.5_Missense_Mutation_p.I995V|AFF2_ENST00000342251.3_Missense_Mutation_p.I997V|AFF2_ENST00000286437.5_Missense_Mutation_p.I671V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1030					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					cacctctaccatcactacTGG	0.567000													10	165					0	0	0.00136819	0	0
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:169474616C>T	ENST00000256935.8	+	40	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.R849W|DOCK2_ENST00000540750.1_Missense_Mutation_p.R418W	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1357	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.R1357W(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCTTCCTGCGGGTGAGTTT	0.542000													7	30					0	0	8.12818e-05	0	0
BAGE2	85319	broad.mit.edu	37	21	11038789	11038789	+	RNA	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr21:11038789C>A	ENST00000470054.1	-	0	1414									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTACCCATGCCAGTTTTTTG	0.418000													23	210					4.26978e-12	3.9355e-11	0.00047179	1	0
MFSD4	148808	broad.mit.edu	37	1	205550012	205550012	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:205550012G>T	ENST00000367147.4	+	3	746	c.653G>T	c.(652-654)cGa>cTa	p.R218L	MFSD4_ENST00000539267.1_Missense_Mutation_p.R218L|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	218					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GCAGGGACCCGAGTGTCCTAT	0.607000													15	23					4.14922e-12	3.8497e-11	0.000422831	1	0
CNTN2	6900	broad.mit.edu	37	1	205033553	205033553	+	Silent	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:205033553C>T	ENST00000331830.4	+	11	1628	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	448	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTCCAAAGGCCGTGGTGCTCT	0.637000													38	104					0	0	0.00170553	0	0
ATP8B4	79895	broad.mit.edu	37	15	50168722	50168722	+	Splice_Site	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr15:50168722T>A	ENST00000284509.6	-	25	2923		c.e25-2		ATP8B4_ENST00000559829.1_Splice_Site	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4						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)		ACTCACATCCTGTAAACAGAG	0.418000													9	32					0	0	0.000978159	0	0
NLRP3	114548	broad.mit.edu	37	1	247588388	247588388	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:247588388G>T	ENST00000366497.2	+	4	2423	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V	NLRP3_ENST00000366496.2_Missense_Mutation_p.G548V|NLRP3_ENST00000336119.3_Missense_Mutation_p.G548V|NLRP3_ENST00000391828.3_Missense_Mutation_p.G548V|NLRP3_ENST00000348069.2_Missense_Mutation_p.G548V|NLRP3_ENST00000391827.2_Missense_Mutation_p.G548V|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	548					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G548E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AACGTTCCAGGGAGTCGTTTG	0.463000													21	38					1.96292e-10	1.70811e-09	0.00152264	1	0
CHRNA9	55584	broad.mit.edu	37	4	40356304	40356304	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:40356304G>T	ENST00000310169.2	+	5	1346	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	403					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CTTAAAGAACGACCTGGGCTG	0.483000													22	39					4.35082e-09	3.54389e-08	0.00152264	1	0
TRPS1	7227	broad.mit.edu	37	8	116426987	116426987	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr8:116426987A>T	ENST00000395715.3	-	7	3726	c.3149T>A	c.(3148-3150)aTt>aAt	p.I1050N	TRPS1_ENST00000519076.1_Missense_Mutation_p.I791N|TRPS1_ENST00000220888.5_Missense_Mutation_p.I1037N|TRPS1_ENST00000520276.1_Missense_Mutation_p.I1041N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1037	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTATCTGAATGTGCAAAGG	0.448000									Langer-Giedion syndrome				18	190					0	0	0.000958276	0	0
WDR27	253769	broad.mit.edu	37	6	170068177	170068177	+	Silent	SNP	C	C	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:170068177C>G	ENST00000333572.6	-	5	1080	c.561G>C	c.(559-561)cgG>cgC	p.R187R	WDR27_ENST00000420344.2_Intron|WDR27_ENST00000448612.1_Silent_p.R187R|WDR27_ENST00000423258.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27	157										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GCAGCTCGGCCCGAACAGCCT	0.577000													7	19					0	0	0.000157383	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178634657	178634657	+	Missense_Mutation	SNP	C	C	T	rs143764421	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:178634657C>T	ENST00000251582.7	-	4	849	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A250T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	250					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GAGCTGTTGGCGTGCTCCTCT	0.662000													10	61					0	0	0.000442599	0	0
GPR128	84873	broad.mit.edu	37	3	100373882	100373882	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr3:100373882C>T	ENST00000273352.3	+	12	1851	c.1583C>T	c.(1582-1584)gCg>gTg	p.A528V	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.A233V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	528					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGTGCACTGCGATTGCCGCC	0.438000													19	117					0	0	0.000958276	0	0
ABO	28	broad.mit.edu	37	9	136135254	136135254	+	RNA	SNP	G	G	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:136135254G>A	ENST00000453660.2	-	0	183							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGATGGTCAGGTTCCCTAACA	0.532000													5	16					0	0	0.000442599	0	0
FRMD4A	55691	broad.mit.edu	37	10	13779862	13779862	+	Silent	SNP	A	A	G			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr10:13779862A>G	ENST00000357447.2	-	12	1109	c.741T>C	c.(739-741)gaT>gaC	p.D247D	FRMD4A_ENST00000358621.4_Silent_p.D232D|FRMD4A_ENST00000342409.2_Silent_p.D263D|RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000378503.1_Silent_p.D247D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	247	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTTCACTTTATCATGGTAGT	0.458000													6	36					0	0	0.000274275	0	0
APBB2	323	broad.mit.edu	37	4	41016079	41016079	+	Missense_Mutation	SNP	T	T	C			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr4:41016079T>C	ENST00000295974.8	-	6	985	c.356A>G	c.(355-357)aAc>aGc	p.N119S	APBB2_ENST00000513140.1_Missense_Mutation_p.N119S|APBB2_ENST00000506352.1_Missense_Mutation_p.N119S|APBB2_ENST00000508593.1_Missense_Mutation_p.N119S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	119					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CAGGTTTTTGTTGGGGTCCTG	0.537000													18	47					0	0	0.00074312	0	0
CRNN	49860	broad.mit.edu	37	1	152382356	152382356	+	Missense_Mutation	SNP	C	C	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:152382356C>T	ENST00000271835.3	-	3	1264	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	401					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCTGTCCTCCCGGTACTGT	0.612000													29	58					0	0	0.000339439	0	0
OR1D2	4991	broad.mit.edu	37	17	2996216	2996216	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr17:2996216C>A	ENST00000331459.1	-	1	74	c.75G>T	c.(73-75)cgG>cgT	p.R25R		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	25			R -> Q (in dbSNP:rs769423).		cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						AAAACAGGATCCGCTGCTGCT	0.532000													22	80					5.26018e-13	5.04761e-12	0.00188189	1	0
ABCB8	11194	broad.mit.edu	37	7	150730846	150730846	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:150730846C>A	ENST00000358849.4	+	2	343	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	ABCB8_ENST00000477719.1_Missense_Mutation_p.L84M|ABCB8_ENST00000356058.4_Missense_Mutation_p.L121M|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000477092.1_Missense_Mutation_p.L84M|ABCB8_ENST00000297504.6_Missense_Mutation_p.L101M|ABCB8_ENST00000498578.1_Missense_Mutation_p.L84M	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	101						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCATGGTACTGAGTAAGCA	0.657000													9	57					3.86212e-05	0.000277478	0.000673444	1	0
HBG2	3048	broad.mit.edu	37	11	5274611	5274611	+	Missense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:5274611C>A	ENST00000380259.2	-	8	1580	c.340G>T	c.(340-342)Gtt>Ttt	p.V114F	HBG2_ENST00000380252.1_Missense_Mutation_p.V104F|HBG2_ENST00000336906.4_Missense_Mutation_p.V114F					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCAAAACGGTCACCAGC	0.522000													12	42					1.05317e-09	8.8885e-09	0.000219431	1	0
GYS1	2997	broad.mit.edu	37	19	49485991	49485991	+	Silent	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr19:49485991C>A	ENST00000323798.3	-	6	1123	c.927G>T	c.(925-927)cgG>cgT	p.R309R	GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000263276.6_Silent_p.R245R|GYS1_ENST00000541188.1_Silent_p.R229R	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	309					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AAAAATGGCCCCGCACAAACT	0.552000													37	72					1.59361e-14	1.59475e-13	0.00148497	1	0
RASAL2	9462	broad.mit.edu	37	1	178426849	178426849	+	Missense_Mutation	SNP	G	G	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr1:178426849G>T	ENST00000448150.3	+	14	3207	c.2389G>T	c.(2389-2391)Gac>Tac	p.D797Y	RASAL2_ENST00000367649.3_Missense_Mutation_p.D808Y|RASAL2_ENST00000462775.1_Missense_Mutation_p.D667Y	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	667					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TCCAAGCCAGGACAACACAGA	0.408000													23	51					1.10923e-09	9.30559e-09	0.000375601	1	0
SYNE1	23345	broad.mit.edu	37	6	152651835	152651835	+	Missense_Mutation	SNP	T	T	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr6:152651835T>A	ENST00000367255.5	-	78	14586	c.13985A>T	c.(13984-13986)aAg>aTg	p.K4662M	SYNE1_ENST00000423061.1_Missense_Mutation_p.K4591M|SYNE1_ENST00000341594.5_Missense_Mutation_p.K4409M|SYNE1_ENST00000448038.1_Missense_Mutation_p.K4591M|SYNE1_ENST00000265368.4_Missense_Mutation_p.K4662M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4662					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)		TTTATAGAACTTGTCTTTAGC	0.403000										HNSCC(10;0.0054)			22	72					0	0	0.000295444	0	0
CDH8	1006	broad.mit.edu	37	16	61935284	61935284	+	Nonsense_Mutation	SNP	C	C	A			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:61935284C>A	ENST00000577390.1	-	3	1300	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.G116*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.G116*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.G116*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	116	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGATATCTCCAGTTACATCA	0.443000													19	72					1.33834e-09	1.11608e-08	0.000958276	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128863519	128863519	+	Missense_Mutation	SNP	A	A	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr5:128863519A>T	ENST00000274487.4	+	5	1292	c.1147A>T	c.(1147-1149)Act>Tct	p.T383S	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCTCCATGAAACTCCAGTAAG	0.308000													5	88					0	0	0.000157383	0	0
IL1RL1	9173	broad.mit.edu	37	2	102955384	102955387	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr2:102955384_102955387delACTC	ENST00000311734.2	+	3	488_491	c.149_152delACTC	c.(148-153)tafs	p.YS50fs	IL1RL1_ENST00000393393.3_Frame_Shift_Del_p.YS50fs|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Frame_Shift_Del_p.YS50fs|IL1RL1_ENST00000233954.1_Frame_Shift_Del_p.YS50fs|IL1RL1_ENST00000473175.1_3'UTR			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	50	Ig-like C2-type 1.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GATTGGTATTACTCACAAACAAAC	0.407													15	179	---	---	---	---					
ABCB8	11194	broad.mit.edu	37	7	150737715	150737720	+	Splice_Site	DEL	GCTTCA	GCTTCA	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr7:150737715_150737720delGCTTCA	ENST00000358849.4	+	11	1475_1480	c.1388_splice	c.e11+1	p.CFS461_splice	ABCB8_ENST00000542328.1_Splice_Site_p.CFS373_splice|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Splice_Site_p.CFS478_splice|ABCB8_ENST00000498578.1_Splice_Site_p.CFS461_splice	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	478						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAACGTCTGCTTCAGGTCAGCACG	0.612													9	85	---	---	---	---					
TMEM246	84302	broad.mit.edu	37	9	104238991	104238991	+	Frame_Shift_Del	DEL	A	A	-			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr9:104238991delA	ENST00000374851.1	-	4	1531	c.384delT	c.(382-384)ctfs	p.L129fs	RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Frame_Shift_Del_p.L129fs|RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374847.1_Frame_Shift_Del_p.L129fs			Q9BRR3	CI125_HUMAN	transmembrane protein 246	129						integral to membrane											ATTGCTGAAGAAGCCGGTGGA	0.592													13	63	---	---	---	---					
KCNA4	3739	broad.mit.edu	37	11	30033550	30033551	+	Frame_Shift_Ins	INS	-	-	T			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:30033550_30033551insT	ENST00000328224.6	-	2	1908_1909	c.675_676insA	c.(673-678)cgccagfs	p.Q226fs		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	226						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCAAAGCTGGGGCGGTTCCTGT	0.465													47	91	---	---	---	---					
OR5M8	219484	broad.mit.edu	37	11	56258610	56258611	+	Frame_Shift_Ins	INS	-	-	T	rs142855645	byFrequency	TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr11:56258610_56258611insT	ENST00000327216.2	-	1	260_261	c.236_237insA	c.(235-237)aatfs	p.N79fs		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TCTCCAGCATCTTTGGAGTCAC	0.470													34	83	---	---	---	---					
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC			TCGA-80-5608-01A-31D-1945-08	TCGA-80-5608-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe7172ec-464d-4ca9-aac9-0601accd7a0f	2baaa8cf-1477-43eb-a90f-53ff108d6185	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614													4	8	---	---	---	---					
