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
IL32	9235	broad.mit.edu	37	16	3119312	3119312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:3119312G>T	ENST00000525643.2	+	7	855	c.523G>T	c.(523-525)Gag>Tag	p.E175*	IL32_ENST00000529550.1_Nonsense_Mutation_p.E175*|IL32_ENST00000552936.1_Nonsense_Mutation_p.E199*|IL32_ENST00000526464.2_Nonsense_Mutation_p.E175*|IL32_ENST00000533097.2_Nonsense_Mutation_p.E175*|IL32_ENST00000530890.1_Nonsense_Mutation_p.E155*|IL32_ENST00000325568.5_Nonsense_Mutation_p.E175*|IL32_ENST00000549213.1_Nonsense_Mutation_p.E118*|IL32_ENST00000440815.3_Nonsense_Mutation_p.E175*|IL32_ENST00000548652.1_Nonsense_Mutation_p.E166*|IL32_ENST00000396890.2_Nonsense_Mutation_p.E221*|IL32_ENST00000552356.1_Nonsense_Mutation_p.E155*|IL32_ENST00000396887.3_Nonsense_Mutation_p.E118*|IL32_ENST00000548476.1_Nonsense_Mutation_p.E221*|IL32_ENST00000444393.3_Nonsense_Mutation_p.E175*|IL32_ENST00000529699.1_Nonsense_Mutation_p.E155*|IL32_ENST00000548246.1_Nonsense_Mutation_p.E135*|IL32_ENST00000382213.3_Nonsense_Mutation_p.E166*|IL32_ENST00000551513.1_Nonsense_Mutation_p.E212*|IL32_ENST00000552664.1_Nonsense_Mutation_p.E175*|IL32_ENST00000530538.2_Nonsense_Mutation_p.E175*|IL32_ENST00000531965.1_Nonsense_Mutation_p.E165*|IL32_ENST00000528163.2_Nonsense_Mutation_p.E175*|IL32_ENST00000534507.1_Nonsense_Mutation_p.E221*|IL32_ENST00000008180.9_Nonsense_Mutation_p.E155*|IL32_ENST00000551122.1_Nonsense_Mutation_p.E118*			P24001	IL32_HUMAN	interleukin 32	221					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.E175*(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGACAAGGAGGAGCTGACACC	0.587000													21	329					2.39556e-15	4.2313e-15	0.016522	1	0
ZNF724P	440519	broad.mit.edu	37	19	23414119	23414119	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:23414119C>A	ENST00000418100.1	-	3	292	c.175G>T	c.(175-177)Ggc>Tgc	p.G59C	ZNF724P_ENST00000597037.1_Missense_Mutation_p.G59C														p.G59C(2)		endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGCTCTTTGCCTTGCTCCAGA	0.418000													53	139					1.80625e-27	3.66323e-27	0.014410	1	0
DCAF5	8816	broad.mit.edu	37	14	69520616	69520616	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:69520616T>A	ENST00000341516.5	-	9	2934	c.2787A>T	c.(2785-2787)acA>acT	p.T929T	DCAF5_ENST00000556847.1_Silent_p.T847T|DCAF5_ENST00000554215.1_Silent_p.T847T|DCAF5_ENST00000557386.1_Silent_p.T928T	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	929						CUL4 RING ubiquitin ligase complex		p.T929T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCTCTGAATCTGTATCTTCCA	0.398000													39	162					0	0	0.027894	0	0
HOXA7	3204	broad.mit.edu	37	7	27195972	27195972	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:27195972G>T	ENST00000242159.3	-	1	326	c.193C>A	c.(193-195)Ccc>Acc	p.P65T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	65					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.P65T(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GACGCAAAGGGGCTCTGATAA	0.657000													19	132					6.49762e-13	1.07741e-12	0.006122	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33616054	33616054	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:33616054C>A	ENST00000504830.1	-	15	2602	c.2267G>T	c.(2266-2268)gGg>gTg	p.G756V	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G671V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	756	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G756V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GATAATAAACCCTCCATTCAG	0.478000										HNSCC(64;0.19)			17	157					1.33834e-09	1.9637e-09	0.007413	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18639381	18639381	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:18639381G>C	ENST00000380548.4	+	7	1145	c.806G>C	c.(805-807)gGa>gCa	p.G269A	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G269A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G269A|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G269A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	269						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.G269A(2)|p.G269V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGAATGGCTGGACCACTCACA	0.423000													4	28					0	0	0.014758	0	0
FAM135A	57579	broad.mit.edu	37	6	71235818	71235818	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:71235818G>C	ENST00000418814.2	+	15	3645	c.3031G>C	c.(3031-3033)Gaa>Caa	p.E1011Q	FAM135A_ENST00000370479.3_Missense_Mutation_p.E798Q|FAM135A_ENST00000457062.2_Missense_Mutation_p.E798Q|FAM135A_ENST00000505769.1_Missense_Mutation_p.E591Q|FAM135A_ENST00000505868.1_Missense_Mutation_p.E1011Q|FAM135A_ENST00000361499.3_Missense_Mutation_p.E815Q	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1011								p.E798Q(1)|p.E1011Q(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GATGTATTCAGAAATCCCTAC	0.338000													12	48					0	0	0.010729	0	0
OR11L1	391189	broad.mit.edu	37	1	248004595	248004595	+	Missense_Mutation	SNP	G	G	T	rs144505770		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248004595G>T	ENST00000355784.2	-	1	659	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L202M(1)|p.L202L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAATTGACAGGATGAAGATG	0.498000													28	175					4.87955e-14	8.37968e-14	0.027356	1	0
COG5	10466	broad.mit.edu	37	7	107204382	107204382	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:107204382C>A	ENST00000393603.2	-	1	324	c.53G>T	c.(52-54)aGc>aTc	p.S18I	DUS4L_ENST00000498786.1_Intron|COG5_ENST00000297135.3_Missense_Mutation_p.S18I|COG5_ENST00000347053.3_Missense_Mutation_p.S18I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	18					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.S18I(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCAGAACGGCTCCGCCCAGG	0.701000													8	36					3.09899e-07	4.08174e-07	0.004482	1	0
CTSG	1511	broad.mit.edu	37	14	25042889	25042889	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:25042889G>C	ENST00000216336.2	-	5	758	c.722C>G	c.(721-723)aCa>aGa	p.T241R		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	241	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.T241R(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GCTTCTCATTGTTGTCCTTAT	0.537000													57	502					0	0	0.014410	0	0
NCSTN	23385	broad.mit.edu	37	1	160323923	160323923	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:160323923G>T	ENST00000368063.1	+	12	1415	c.1135G>T	c.(1135-1137)Gcc>Tcc	p.A379S	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.A379S|NCSTN_ENST00000368065.4_Missense_Mutation_p.A141S|NCSTN_ENST00000535857.1_Missense_Mutation_p.A261S|NCSTN_ENST00000294785.5_Missense_Mutation_p.A399S			Q92542	NICA_HUMAN	nicastrin	399					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGATCTCCTGGCCACATTGGA	0.562000													5	83					1.23904e-05	1.51102e-05	0.014758	1	0
SCN1A	6323	broad.mit.edu	37	2	166892752	166892752	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:166892752C>G	ENST00000423058.2	-	16	3252	c.3235G>C	c.(3235-3237)Gta>Cta	p.V1079L	SCN1A_ENST00000409050.1_Missense_Mutation_p.V1051L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1068L|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1079L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1079						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V1079L(1)|p.V1068L(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTTCCATTTACATCTTTAAGA	0.338000													8	47					0	0	0.003080	0	0
TRAV20	28663	broad.mit.edu	37	14	22509307	22509307	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:22509307G>T	ENST00000390448.3	+	0	314																											GAGAAAGAAAGGCTAAAAGCC	0.483000													6	31					0.00198382	0.00215994	0.029380	1	0
HHIPL2	79802	broad.mit.edu	37	1	222715445	222715445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:222715445G>T	ENST00000343410.6	-	3	1085	c.1027C>A	c.(1027-1029)Ctt>Att	p.L343I		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	343					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.L343I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGGCCAAAAAGAAGTTGTCCG	0.468000													16	77					8.28177e-16	1.48092e-15	0.007413	1	0
BPIFB3	359710	broad.mit.edu	37	20	31647780	31647780	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:31647780C>T	ENST00000375494.3	+	4	470	c.470C>T	c.(469-471)cCc>cTc	p.P157L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	157	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	p.P157L(1)									AGGGGCACACCCATCCTTATC	0.632000													40	44					0	0	0.023175	0	0
TTN	7273	broad.mit.edu	37	2	179440902	179440902	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179440902G>A	ENST00000589042.1	-	326	70181	c.69957C>T	c.(69955-69957)atC>atT	p.I23319I	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I14446I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I21678I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.I14379I|TTN_ENST00000460472.2_Silent_p.I14254I|TTN_ENST00000342992.6_Silent_p.I20751I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21678	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I20749I(1)|p.I14254I(1)|p.I20751I(1)|p.I14446I(1)|p.I14379I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCATCGTTGATGGCACTGA	0.463000													23	111					0	0	0.014323	0	0
SUGP1	57794	broad.mit.edu	37	19	19427244	19427244	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:19427244G>A	ENST00000247001.5	-	2	540	c.193C>T	c.(193-195)Cca>Tca	p.P65S	SUGP1_ENST00000334782.5_Missense_Mutation_p.P65S|SUGP1_ENST00000585763.1_5'UTR	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	65					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	p.P65S(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CCAGGATGTGGGGGCTGAGGG	0.567000													29	99					0	0	0.013726	0	0
LRRC7	57554	broad.mit.edu	37	1	70541828	70541828	+	Silent	SNP	G	G	A	rs147035395	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:70541828G>A	ENST00000310961.5	+	24	4477	c.4059G>A	c.(4057-4059)ccG>ccA	p.P1353P	LRRC7_ENST00000035383.5_Silent_p.P1395P|LRRC7_ENST00000415775.2_Silent_p.P679P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1395						centrosome|focal adhesion|nucleolus	protein binding	p.P1395P(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGCAGCAGCCGTATGAAGGAA	0.532000													6	56					0	0	0.006214	0	0
RBBP6	5930	broad.mit.edu	37	16	24580457	24580457	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:24580457G>A	ENST00000319715.4	+	17	2878	c.2446G>A	c.(2446-2448)Gtt>Att	p.V816I	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.V782I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	816					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V816I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGGAGAAGTGTTGACTTTAG	0.368000													14	70					0	0	0.024245	0	0
MAST4	375449	broad.mit.edu	37	5	66460973	66460973	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:66460973G>T	ENST00000404260.3	+	29	6283	c.5975G>T	c.(5974-5976)aGg>aTg	p.R1992M	MAST4_ENST00000403666.1_Missense_Mutation_p.R1800M|MAST4_ENST00000261569.7_Missense_Mutation_p.R1795M|MAST4_ENST00000405643.1_Missense_Mutation_p.R1810M|MAST4_ENST00000403625.2_Missense_Mutation_p.R1989M			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1992						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R1992M(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCTGCTGCGAGGGCTGACACA	0.582000													3	14					0.00909568	0.00962114	0.009096	1	0
IGLL1	3543	broad.mit.edu	37	22	23915735	23915735	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:23915735C>A	ENST00000249053.3	-	2	292	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	IGLL1_ENST00000330377.2_Silent_p.P120P	NM_152855.2	NP_690594.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	0					immune response	extracellular region|membrane		p.P120P(1)		kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CAGAGGACGGCGGGAACAGAG	0.587000													22	123					1.10923e-09	1.63307e-09	0.016522	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481294	140481294	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140481294G>C	ENST00000231130.2	+	1	1061	c.1061G>C	c.(1060-1062)aGc>aCc	p.S354T	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		354	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S354T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGTAAACAGCCCTATTCCT	0.498000													19	84					0	0	0.018920	0	0
MXRA5	25878	broad.mit.edu	37	X	3261795	3261795	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:3261795C>A	ENST00000217939.6	-	2	234	c.80G>T	c.(79-81)tGc>tTc	p.C27F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	27	LRRNT.					extracellular region		p.C27F(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGATGCGGGCAGGCCAGCGC	0.647000													6	47					0.0215528	0.0223612	0.021553	1	0
FLG	2312	broad.mit.edu	37	1	152285627	152285627	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152285627C>A	ENST00000368799.1	-	3	1770	c.1735G>T	c.(1735-1737)Gac>Tac	p.D579Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	579	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D579Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTGCCGTCTCCTGATTGT	0.567000									Ichthyosis				91	1136					1.84395e-34	3.82318e-34	0.014410	1	0
ESRRB	2103	broad.mit.edu	37	14	76905914	76905914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:76905914G>T	ENST00000380887.2	+	2	290	c.218G>T	c.(217-219)cGc>cTc	p.R73L	ESRRB_ENST00000556177.1_Missense_Mutation_p.R73L|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.R73L|ESRRB_ENST00000509242.1_Missense_Mutation_p.R73L			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R73L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ACCCCATGCCGCAAGAGCTAC	0.672000													10	68					4.84862e-15	8.47204e-15	0.010729	1	0
USH2A	7399	broad.mit.edu	37	1	215807871	215807871	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:215807871C>A	ENST00000366943.2	-	70	15613	c.15227G>T	c.(15226-15228)aGa>aTa	p.R5076I	USH2A_ENST00000307340.3_Missense_Mutation_p.R5076I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5076					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R5076I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAGGGAGGTCTTTCTCTGAT	0.443000										HNSCC(13;0.011)			27	112					0.000117367	0.000136351	0.027356	1	0
REG1B	5968	broad.mit.edu	37	2	79312369	79312369	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:79312369G>T	ENST00000305089.3	-	6	554	c.474C>A	c.(472-474)ttC>ttA	p.F158L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	158	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.F158L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AAACAAAGGAGAACTTCTTCT	0.383000													6	36					8.12818e-05	9.47681e-05	0.029380	1	0
HARS2	23438	broad.mit.edu	37	5	140076891	140076891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140076891G>T	ENST00000230771.3	+	10	1320	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	HARS2_ENST00000508522.1_Missense_Mutation_p.G341V|HARS2_ENST00000448069.2_Missense_Mutation_p.G194V|HARS2_ENST00000437649.2_Missense_Mutation_p.G292V|HARS2_ENST00000432671.2_Missense_Mutation_p.G252V|HARS2_ENST00000435019.2_Missense_Mutation_p.G326V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	366					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity	p.G366V(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTATGATGGGCTGGTGGGC	0.577000													7	67					1.06961e-07	1.43944e-07	0.003080	1	0
OPTN	10133	broad.mit.edu	37	10	13175538	13175538	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:13175538G>T	ENST00000378748.3	+	15	1931	c.1569G>T	c.(1567-1569)gcG>gcT	p.A523A	OPTN_ENST00000378752.3_Silent_p.A517A|OPTN_ENST00000378757.2_Silent_p.A523A|OPTN_ENST00000378747.3_Silent_p.A523A|OPTN_ENST00000263036.5_Silent_p.A523A|OPTN_ENST00000378764.2_Silent_p.A517A	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	523	Interaction with HD.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.A523A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTCATGGGGCGAGAACAAGTG	0.488000													13	73					5.01169e-05	5.93911e-05	0.033300	1	0
DIO2	1734	broad.mit.edu	37	14	80677716	80677716	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:80677716G>T	ENST00000557010.1	-	3	485	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	DIO2_ENST00000555750.1_Missense_Mutation_p.L34I|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34I|DIO2_ENST00000422005.3_Missense_Mutation_p.L34I	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L34I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562000													4	44					0.014758	0.0153852	0.014758	1	0
FAM114A2	10827	broad.mit.edu	37	5	153381950	153381950	+	Splice_Site	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:153381950C>G	ENST00000351797.4	-	11	1193	c.1116_splice	c.e11-1	p.D373_splice	FAM114A2_ENST00000520313.1_Splice_Site_p.D303_splice|FAM114A2_ENST00000522858.1_Splice_Site_p.D373_splice|FAM114A2_ENST00000520667.1_Splice_Site_p.D373_splice	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	373							purine nucleotide binding	p.D373H(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GCATGGATATCCTGGATGGAa	0.428000													7	53					0	0	0.029380	0	0
ZNF560	147741	broad.mit.edu	37	19	9578134	9578134	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9578134A>T	ENST00000301480.4	-	10	1702	c.1489T>A	c.(1489-1491)Ttt>Att	p.F497I		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F497I(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGAAACAAAGACTTTCCCA	0.418000													14	185					0	0	0.016723	0	0
SMAP2	64744	broad.mit.edu	37	1	40881975	40881975	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:40881975C>T	ENST00000539317.1	+	8	762	c.569C>T	c.(568-570)tCa>tTa	p.S190L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	270	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.S270L(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			TCCATTCTTTCACTGTATGGA	0.488000													34	163					0	0	0.017118	0	0
KDM3B	51780	broad.mit.edu	37	5	137726954	137726954	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:137726954G>C	ENST00000314358.5	+	8	1833	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.E201Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	545					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E545Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TACTGTTTCAGAGAGTTTGGC	0.438000													6	52					0	0	0.021553	0	0
KANK4	163782	broad.mit.edu	37	1	62739778	62739778	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:62739778C>A	ENST00000371153.4	-	3	1376	c.998G>T	c.(997-999)gGc>gTc	p.G333V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	333								p.G333V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTGGCAAGGCCCAGGCTTTC	0.577000													6	168					3.59834e-05	4.29159e-05	0.021553	1	0
GSDMD	79792	broad.mit.edu	37	8	144642025	144642025	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:144642025C>T	ENST00000526406.1	+	6	1179	c.296C>T	c.(295-297)cCa>cTa	p.P99L	GSDMD_ENST00000533063.1_Missense_Mutation_p.P147L|GSDMD_ENST00000262580.4_Missense_Mutation_p.P99L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	99								p.P99L(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CTGGCAGCCCCAGGACAGGCA	0.602000													37	72					0	0	0.033182	0	0
OLFM4	10562	broad.mit.edu	37	13	53624276	53624276	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:53624276G>C	ENST00000219022.2	+	5	981	c.903G>C	c.(901-903)gaG>gaC	p.E301D		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	301	Olfactomedin-like.				cell adhesion	extracellular space		p.E301D(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GACTGTTGGAGTATTATAGAC	0.443000													16	63					0	0	0.024245	0	0
ABCA7	10347	broad.mit.edu	37	19	1061838	1061838	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:1061838A>T	ENST00000263094.6	+	41	5752	c.5521A>T	c.(5521-5523)Acg>Tcg	p.T1841S	ABCA7_ENST00000435683.2_Missense_Mutation_p.T1703S|ABCA7_ENST00000433129.1_Missense_Mutation_p.T1841S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1841	ABC transporter 2.				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.T1841S(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCATGGTGACGGGGGACAC	0.652000													8	75					0	0	0.008291	0	0
ZNF423	23090	broad.mit.edu	37	16	49671148	49671148	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:49671148G>A	ENST00000561648.1	-	4	1968	c.1915C>T	c.(1915-1917)Ctc>Ttc	p.L639F	ZNF423_ENST00000562871.1_Missense_Mutation_p.L579F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L579F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L522F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L639F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L522F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L579F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	639					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L639F(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GAGAACTTGAGGTCGCATTGA	0.572000													25	90					0	0	0.018920	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481802	140481802	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140481802C>A	ENST00000231130.2	+	1	1569	c.1569C>A	c.(1567-1569)gcC>gcA	p.A523A		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		523	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A523A(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACGAGGCCCTGCAGGCGT	0.687000													37	124					5.78141e-17	1.05708e-16	0.013114	1	0
LRRC32	2615	broad.mit.edu	37	11	76370954	76370954	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:76370954G>T	ENST00000407242.2	-	3	1925	c.1683C>A	c.(1681-1683)acC>acA	p.T561T	LRRC32_ENST00000404995.1_Silent_p.T561T|LRRC32_ENST00000260061.5_Silent_p.T561T|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	561						integral to plasma membrane		p.T561T(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCCGGAGGCTGGTCTCCAGGC	0.662000													6	46					9.70103e-10	1.43637e-09	0.008291	1	0
KCNH1	3756	broad.mit.edu	37	1	210857003	210857003	+	Missense_Mutation	SNP	C	C	T	rs148523415		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:210857003C>T	ENST00000367007.4	-	11	2678	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	KCNH1_ENST00000271751.4_Missense_Mutation_p.E864K	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	864					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.E864K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTGTCCTCTCGGGAAGTGTC	0.572000													48	166					0	0	0.014410	0	0
OR2L13	284521	broad.mit.edu	37	1	248263401	248263401	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248263401A>T	ENST00000366478.2	+	3	1061	c.724A>T	c.(724-726)Aca>Tca	p.T242S	OR2L13_ENST00000358120.2_Missense_Mutation_p.T242S	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.T242A(2)|p.T242S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CACCATTTCAACACATTTAAC	0.463000													14	102					0	0	0.020292	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329846	64329846	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:64329846G>A	ENST00000301891.4	+	4	1134	c.760G>A	c.(760-762)Gac>Aac	p.D254N	SLC22A11_ENST00000377581.3_Missense_Mutation_p.D254N|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.D254N	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	254					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.D254N(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGCCCTGCGGGACTGGAGGAC	0.632000													89	198					0	0	0.014410	0	0
SLAMF8	56833	broad.mit.edu	37	1	159803141	159803141	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159803141C>T	ENST00000289707.5	+	4	912	c.763C>T	c.(763-765)Cac>Tac	p.H255Y	SLAMF8_ENST00000368104.4_Missense_Mutation_p.H146Y|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	255						integral to membrane		p.H255Y(1)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTCTGCCTGGCACTGGTGCCC	0.587000													76	240					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10108083	10108083	+	Silent	SNP	G	G	T	rs150339396		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:10108083G>T	ENST00000264828.3	-	11	1312	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	409	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P409P(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGGGGGGCCGGGAGGGCCTG	0.602000													3	30					0.00024832	0.000282924	0.009096	1	0
BAZ1A	11177	broad.mit.edu	37	14	35243654	35243654	+	Missense_Mutation	SNP	C	C	G	rs146795126		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:35243654C>G	ENST00000360310.1	-	19	3443	c.2876G>C	c.(2875-2877)aGa>aCa	p.R959T	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R927T|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R959T	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	959					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	p.R959T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ATTGGAAGATCTTCCCCGACT	0.328000													16	191					0	0	0.010504	0	0
PLEK2	26499	broad.mit.edu	37	14	67859505	67859505	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:67859505C>T	ENST00000216446.4	-	5	683	c.543G>A	c.(541-543)gtG>gtA	p.V181V		NM_016445.1	NP_057529.1	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	181	DEP.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane		p.V181V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		AGGCCAGGGTCACCGCCTCCA	0.637000													7	28					0	0	0.029380	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569548	100569548	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:100569548G>T	ENST00000471714.1	-	16	1512	c.1403C>A	c.(1402-1404)cCa>cAa	p.P468Q	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P419Q|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P468Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space		p.P419Q(1)|p.P468Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGTTTTAGGTGGGATAGAATC	0.338000													12	47					1.5842e-08	2.22404e-08	0.016723	1	0
IFI16	3428	broad.mit.edu	37	1	158988130	158988130	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158988130C>G	ENST00000295809.7	+	5	916	c.661C>G	c.(661-663)Cca>Gca	p.P221A	IFI16_ENST00000359709.3_Missense_Mutation_p.P165A|IFI16_ENST00000448393.2_Missense_Mutation_p.P221A|IFI16_ENST00000368132.3_Missense_Mutation_p.P221A|IFI16_ENST00000340979.6_Missense_Mutation_p.P221A|IFI16_ENST00000368131.4_Missense_Mutation_p.P221A|IFI16_ENST00000430894.2_Missense_Mutation_p.P169A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	221	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.P221A(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATATGAGACCCCAGAAATGGA	0.403000													20	81					0	0	0.008871	0	0
DRC1	92749	broad.mit.edu	37	2	26671598	26671598	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:26671598C>T	ENST00000288710.2	+	11	1510	c.1436C>T	c.(1435-1437)tCc>tTc	p.S479F		NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)									p.S479F(1)									GAACCAGAGTCCTACCTGGAT	0.532000													41	235					0	0	0.030466	0	0
ZNF681	148213	broad.mit.edu	37	19	23926566	23926566	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:23926566C>A	ENST00000402377.3	-	4	1927	c.1786G>T	c.(1786-1788)Ggc>Tgc	p.G596C	ZNF681_ENST00000395385.3_Missense_Mutation_p.G527C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G527C(1)|p.G596C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAAGCTTTGCCACATTTTTCA	0.368000													7	32					2.0095e-06	2.54863e-06	0.029380	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299720	125299720	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:125299720C>A	ENST00000538699.1	-	2	268	c.188G>T	c.(187-189)cGg>cTg	p.R63L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R63L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	63								p.R63L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCTGGGCCCCGCGCTCCTAC	0.731000													16	43					2.48551e-13	4.17462e-13	0.033300	1	0
TNNT3	7140	broad.mit.edu	37	11	1953727	1953727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1953727G>T	ENST00000381558.1	+	8	409	c.130G>T	c.(130-132)Gag>Tag	p.E44*	TNNT3_ENST00000381579.3_Nonsense_Mutation_p.E44*|TNNT3_ENST00000381589.3_Nonsense_Mutation_p.E50*|TNNT3_ENST00000278317.6_Nonsense_Mutation_p.E52*|TNNT3_ENST00000397304.2_Nonsense_Mutation_p.E33*|TNNT3_ENST00000381561.4_Nonsense_Mutation_p.E55*|TNNT3_ENST00000381549.3_Nonsense_Mutation_p.E44*|TNNT3_ENST00000397301.1_Nonsense_Mutation_p.E63*|TNNT3_ENST00000446240.1_Nonsense_Mutation_p.E33*|TNNT3_ENST00000381548.3_Nonsense_Mutation_p.E54*|TNNT3_ENST00000360603.3_Nonsense_Mutation_p.E46*			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	63					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.E52*(1)|p.E50*(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CCCAGAAGGGGAGAAAGTGGA	0.562000													27	137					5.60225e-13	9.34907e-13	0.009535	1	0
THG1L	54974	broad.mit.edu	37	5	157164919	157164919	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:157164919G>C	ENST00000231198.7	+	5	896	c.652G>C	c.(652-654)Gag>Cag	p.E218Q		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	218					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	p.E218Q(2)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACAAGAATGAGATTTTGTT	0.383000													14	105					0	0	0.028581	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590959	141590959	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:141590959C>A	ENST00000442267.2	-	8	1341		c.e8-1			NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity	p.?(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GAGAGTACACCTGTCAATACA	0.488000													7	48					0.00198382	0.00215994	0.029380	1	0
LRP1B	53353	broad.mit.edu	37	2	141004668	141004668	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:141004668A>T	ENST00000389484.3	-	87	14282	c.13311T>A	c.(13309-13311)gaT>gaA	p.D4437E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4437					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4437E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCTGATATGATCAGACTTGC	0.383000										TSP Lung(27;0.18)			4	22					0	0	0.009096	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934605	186934605	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:186934605G>T	ENST00000367466.3	+	15	1796	c.1644G>T	c.(1642-1644)gtG>gtT	p.V548V	PLA2G4A_ENST00000442353.2_Silent_p.V488V	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	548	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.V548V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTCATGTAGTGGACAGTGGGC	0.383000													23	65					1.55795e-14	2.70044e-14	0.012319	1	0
ZNF438	220929	broad.mit.edu	37	10	31137881	31137881	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:31137881T>G	ENST00000538351.1	-	7	2060	c.1306A>C	c.(1306-1308)Aac>Cac	p.N436H	ZNF438_ENST00000444692.2_Missense_Mutation_p.N475H|ZNF438_ENST00000452305.1_Missense_Mutation_p.N475H|ZNF438_ENST00000442986.1_Missense_Mutation_p.N485H|ZNF438_ENST00000436087.2_Missense_Mutation_p.N485H|ZNF438_ENST00000413025.1_Missense_Mutation_p.N485H|ZNF438_ENST00000375311.1_Missense_Mutation_p.N49H|ZNF438_ENST00000361310.3_Missense_Mutation_p.N485H|ZNF438_ENST00000331737.6_Missense_Mutation_p.N475H	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N485H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAAGAGCTGTTGTCTTGCTTA	0.468000													44	215					0	0	0.011902	0	0
EYS	346007	broad.mit.edu	37	6	66094394	66094394	+	Splice_Site	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:66094394C>G	ENST00000503581.1	-	8	1722		c.e8-1		EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000342421.5_Splice_Site	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						response to stimulus|visual perception	extracellular region	calcium ion binding	p.?(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGATATACAGCTGTAAATACA	0.284000													3	5					0	0	0.004672	0	0
NLGN1	22871	broad.mit.edu	37	3	173996901	173996901	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:173996901G>T	ENST00000457714.1	+	6	1539	c.1110G>T	c.(1108-1110)caG>caT	p.Q370H	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.Q370H|NLGN1_ENST00000545397.1_Missense_Mutation_p.Q370H|NLGN1_ENST00000401917.3_Missense_Mutation_p.Q410H	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	387					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.Q370H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACGACCCCCAGATATTGATGG	0.403000													53	114					1.46156e-29	2.98746e-29	0.014410	1	0
TBC1D1	23216	broad.mit.edu	37	4	38037262	38037262	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:38037262G>C	ENST00000261439.4	+	8	1711	c.1356G>C	c.(1354-1356)ctG>ctC	p.L452L	TBC1D1_ENST00000508802.1_Silent_p.L452L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	452						nucleus	Rab GTPase activator activity	p.L452L(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTCTTTTCTGAGATGTTTAT	0.343000													15	64					0	0	0.028581	0	0
DNAH9	1770	broad.mit.edu	37	17	11786980	11786980	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:11786980C>A	ENST00000262442.3	+	56	10952	c.10884C>A	c.(10882-10884)tcC>tcA	p.S3628S	DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Silent_p.S3628S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3628	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3628S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCGCCTCTCCTCCGCCTCTG	0.473000													20	112					5.49717e-05	6.50849e-05	0.018920	1	0
SLIT3	6586	broad.mit.edu	37	5	168187881	168187881	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:168187881G>T	ENST00000519560.1	-	16	2090	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P	SLIT3_ENST00000404867.3_Silent_p.P557P|SLIT3_ENST00000332966.8_Silent_p.P557P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	557					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.P557P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGGTTGGGCAACTTCT	0.517000													28	107					2.48779e-11	3.91542e-11	0.027356	1	0
DYM	54808	broad.mit.edu	37	18	46783427	46783427	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:46783427C>T	ENST00000269445.6	-	13	1870	c.1413G>A	c.(1411-1413)tcG>tcA	p.S471S	DYM_ENST00000442713.2_Silent_p.S281S	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	471						Golgi apparatus		p.S471S(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GAAACTGTGCCGACATATTTG	0.393000													6	71					0	0	0.029380	0	0
OR4D6	219983	broad.mit.edu	37	11	59225307	59225307	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:59225307C>A	ENST00000300127.2	+	1	897	c.874C>A	c.(874-876)Caa>Aaa	p.Q292K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q292K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCTGAGAAATCAAGAGATGAA	0.522000													40	202					1.57945e-13	2.67008e-13	0.011902	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464516	5464516	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:5464516G>A	ENST00000296564.7	+	13	5291	c.5069G>A	c.(5068-5070)cGt>cAt	p.R1690H		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1690	Pro-rich.							p.R1690H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GACCCCAGACGTGCCTCTCCT	0.602000													72	203					0	0	0.014410	0	0
NRAP	4892	broad.mit.edu	37	10	115423132	115423132	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:115423132T>C	ENST00000369358.4	-	2	390	c.146A>G	c.(145-147)cAg>cGg	p.Q49R	NRAP_ENST00000360478.3_Missense_Mutation_p.Q49R|NRAP_ENST00000369360.3_Missense_Mutation_p.Q49R|NRAP_ENST00000359988.3_Missense_Mutation_p.Q49R			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	49	LIM zinc-binding.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.Q49R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CGGCTTTTTCTGGTGACTCAC	0.388000													4	61					0	0	0.014758	0	0
GABRD	2563	broad.mit.edu	37	1	1961087	1961087	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:1961087G>T	ENST00000378585.4	+	8	1028	c.945G>T	c.(943-945)tgG>tgT	p.W315C		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	315						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.W315C(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCTACTTCTGGATCTGCTATG	0.577000													11	75					1.58986e-06	2.02431e-06	0.008291	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													4	105					0	0	0.009096	0	0
HDAC7	51564	broad.mit.edu	37	12	48188652	48188652	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:48188652G>A	ENST00000080059.7	-	12	1348	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	HDAC7_ENST00000552960.1_Missense_Mutation_p.T433I|HDAC7_ENST00000354334.3_Missense_Mutation_p.T413I|HDAC7_ENST00000427332.2_Missense_Mutation_p.T411I|HDAC7_ENST00000380610.4_Missense_Mutation_p.T467I	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	411	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.T411I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCGCCATCTGTCTCCAGGTC	0.682000													43	174					0	0	0.014410	0	0
CDC20B	166979	broad.mit.edu	37	5	54423141	54423141	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:54423141C>A	ENST00000334206.5	-	8	1109	c.933G>T	c.(931-933)atG>atT	p.M311I	CDC20B_ENST00000322374.6_Missense_Mutation_p.M311I|CDC20B_ENST00000296733.1_Missense_Mutation_p.M311I|CDC20B_ENST00000381375.2_Missense_Mutation_p.M311I			Q86Y33	CD20B_HUMAN	cell division cycle 20B	311								p.M311I(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			AATGACCAAGCATATTTCTCA	0.408000													15	127					2.31682e-05	2.79913e-05	0.024245	1	0
CPE	1363	broad.mit.edu	37	4	166405728	166405728	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:166405728C>A	ENST00000402744.4	+	5	1225	c.945C>A	c.(943-945)aaC>aaA	p.N315K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	315					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.N315K(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAACCACCAACGGTGGTGCTT	0.483000													41	368					6.99958e-10	1.04591e-09	0.027894	1	0
AADAC	13	broad.mit.edu	37	3	151542581	151542581	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:151542581G>C	ENST00000232892.6	+	4	688	c.562G>C	c.(562-564)Gat>Cat	p.D188H	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.D188H	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	188					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.D188H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TATTTCTGGAGATAGTGCAGG	0.348000													3	69					0	0	0.004672	0	0
FAM65B	9750	broad.mit.edu	37	6	24843402	24843402	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:24843402A>T	ENST00000259698.4	-	14	1783	c.1608T>A	c.(1606-1608)gaT>gaA	p.D536E	FAM65B_ENST00000510784.2_Missense_Mutation_p.D520E|FAM65B_ENST00000538035.1_Missense_Mutation_p.D515E|FAM65B_ENST00000378023.4_Missense_Mutation_p.D486E|FAM65B_ENST00000540914.1_Missense_Mutation_p.D486E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	536					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	p.D486E(1)|p.D536E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CTTCTGCAACATCATTCTCAA	0.562000													79	106					0	0	0.014410	0	0
BCLAF1	9774	broad.mit.edu	37	6	136596682	136596682	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:136596682G>T	ENST00000531224.1	-	6	2092	c.1840C>A	c.(1840-1842)Cat>Aat	p.H614N	BCLAF1_ENST00000392348.2_Missense_Mutation_p.H612N|BCLAF1_ENST00000527536.1_Missense_Mutation_p.H614N|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H612N|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H612N|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H441N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	614					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.H614N(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAACATGATGAACCAAGGAC	0.348000													7	75					2.17888e-05	2.63983e-05	0.006214	1	0
CHGB	1114	broad.mit.edu	37	20	5903859	5903859	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:5903859C>A	ENST00000378961.4	+	4	1273	c.1069C>A	c.(1069-1071)Ctg>Atg	p.L357M		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	357						extracellular region	hormone activity	p.L357M(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCCTGAGGACCTGGAGTGGGA	0.527000													69	160					1.64915e-30	3.38688e-30	0.014410	1	0
COL4A6	1288	broad.mit.edu	37	X	107403709	107403709	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:107403709G>T	ENST00000334504.7	-	43	4742	c.4509C>A	c.(4507-4509)gcC>gcA	p.A1503A	COL4A6_ENST00000545689.1_Silent_p.A1479A|COL4A6_ENST00000394872.2_Silent_p.A1504A|COL4A6_ENST00000372216.4_Silent_p.A1504A|COL4A6_ENST00000538570.1_Silent_p.A1446A	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1504	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.A1503A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGGTTGTGGGCTTTCTCTT	0.597000									Alport syndrome with Diffuse Leiomyomatosis				53	114					1.46357e-32	3.01528e-32	0.014410	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99758146	99758146	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:99758146C>G	ENST00000360039.4	-	4	1258	c.866G>C	c.(865-867)tGg>tCg	p.W289S	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.W289S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.W227S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.G188R|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.G188R	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	289					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.W289S(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCCAGACCCCACTGGATGAA	0.532000													19	276					0	0	0.024334	0	0
DDX24	57062	broad.mit.edu	37	14	94545842	94545842	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94545842C>A	ENST00000330836.5	-	2	378	c.247G>T	c.(247-249)Gaa>Taa	p.E83*	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Nonsense_Mutation_p.E40*	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	83	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.E83*(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCCTCTTCTTCTGAAACAGCT	0.448000													39	264					7.53189e-24	1.49488e-23	0.030466	1	0
OR9G1	390174	broad.mit.edu	37	11	56468589	56468589	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:56468589C>A	ENST00000312153.1	+	1	726	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.S242S(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CATGCTCCTCCCACCTGACCT	0.478000													19	206					7.92952e-12	1.27107e-11	0.021523	1	0
TTLL8	164714	broad.mit.edu	37	22	50479677	50479677	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:50479677C>T	ENST00000266182.6	-	8	859	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8									p.C287Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TTTGAAGATGCACAAGACAAT	0.572000													24	194					0	0	0.024334	0	0
CXorf48	54967	broad.mit.edu	37	X	134303589	134303589	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:134303589G>A	ENST00000344129.2	-	2	434	c.208C>T	c.(208-210)Cta>Tta	p.L70L	CXorf48_ENST00000276241.6_Silent_p.L70L	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	70								p.L70L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					CCAACTTTTAGAGGCACGTTG	0.418000													10	39					0	0	0.006214	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629527	1629527	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1629527C>T	ENST00000399685.1	-	1	166	c.89G>A	c.(88-90)gGc>gAc	p.G30D		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	30						keratin filament		p.G30fs*>209(1)|p.G30D(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCATAGCC	0.677000													13	110					0	0	0.007413	0	0
AIRE	326	broad.mit.edu	37	21	45709652	45709652	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:45709652G>T	ENST00000291582.5	+	6	892	c.765G>T	c.(763-765)ctG>ctT	p.L255L		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	255	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.L255L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CGAAGCCTCTGGTTCGAGCCA	0.652000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				12	50					9.16793e-09	1.29126e-08	0.033300	1	0
NRCAM	4897	broad.mit.edu	37	7	107864184	107864184	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:107864184C>G	ENST00000379028.3	-	11	1345	c.875G>C	c.(874-876)tGc>tCc	p.C292S	NRCAM_ENST00000413765.2_Missense_Mutation_p.C273S|NRCAM_ENST00000351718.4_Missense_Mutation_p.C286S|NRCAM_ENST00000425651.2_Missense_Mutation_p.C292S|NRCAM_ENST00000379022.4_Missense_Mutation_p.C292S|NRCAM_ENST00000379024.4_Missense_Mutation_p.C273S			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	292	Ig-like 3.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.C292S(1)|p.C286S(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCTGCAATGCACTCCAGTGA	0.383000													7	25					0	0	0.029380	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887024	9887024	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:9887024C>A	ENST00000306084.6	+	2	747	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P116Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	183	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.P183K(1)|p.P116K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGGCCCCAGAAGAAACC	0.572000													12	260					0.0167234	0.0174202	0.016723	1	0
TUBA4A	7277	broad.mit.edu	37	2	220116417	220116417	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:220116417G>A	ENST00000392088.2	-	3	755	c.200C>T	c.(199-201)cCa>cTa	p.P67L	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Missense_Mutation_p.P82L	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	82					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P82L(1)|p.P67L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTCGGTATGGGCCATTTCG	0.537000													9	70					0	0	0.004482	0	0
SV2C	22987	broad.mit.edu	37	5	75490762	75490762	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:75490762G>T	ENST00000502798.2	+	3	1041	c.599G>T	c.(598-600)gGg>gTg	p.G200V	SV2C_ENST00000322285.7_Missense_Mutation_p.G200V	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	200					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.G200V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GTGTACCTCGGGATGATGGTG	0.473000													55	165					7.92265e-33	1.63483e-32	0.014410	1	0
CST1	1469	broad.mit.edu	37	20	23731392	23731392	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:23731392C>T	ENST00000304749.2	-	1	182	c.112G>A	c.(112-114)Gac>Aac	p.D38N	CST1_ENST00000398402.1_Missense_Mutation_p.D38N	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	38						extracellular region	cysteine-type endopeptidase inhibitor activity	p.D38N(2)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TCATTGAGGTCTGCGTTATAG	0.572000													38	61					0	0	0.017118	0	0
CDH6	1004	broad.mit.edu	37	5	31323321	31323321	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:31323321C>A	ENST00000265071.2	+	12	2544	c.2279C>A	c.(2278-2280)gCa>gAa	p.A760E		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	760					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A760E(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCACGGATGCAGATCAAGAC	0.527000													46	86					5.2432e-18	9.66832e-18	0.014410	1	0
CPSF3	51692	broad.mit.edu	37	2	9583780	9583780	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:9583780C>T	ENST00000460593.1	+	10	2259	c.1121C>T	c.(1120-1122)cCg>cTg	p.P374L	CPSF3_ENST00000238112.3_Missense_Mutation_p.P411L			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	411					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.P411L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GCTTTGAAACCGCCTCATGTG	0.403000													60	131					0	0	0.014410	0	0
HNF4G	3174	broad.mit.edu	37	8	76472578	76472578	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:76472578G>T	ENST00000396423.2	+	9	1217		c.e9-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ATCTTTTGTAGGGGCTTCCAA	0.368000													31	40					2.08457e-15	3.69705e-15	0.010818	1	0
ZNF532	55205	broad.mit.edu	37	18	56586482	56586482	+	Silent	SNP	C	C	T	rs149812809		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:56586482C>T	ENST00000336078.4	+	4	1739	c.963C>T	c.(961-963)atC>atT	p.I321I	ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I321I(1)		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						AGAATCTCATCGACGGGACCA	0.527000													20	153					0	0	0.027356	0	0
DIP2C	22982	broad.mit.edu	37	10	410378	410378	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:410378T>C	ENST00000280886.6	-	20	2500	c.2413A>G	c.(2413-2415)Aac>Gac	p.N805D	DIP2C_ENST00000381496.3_3'UTR|DIP2C_ENST00000540204.1_Missense_Mutation_p.N126D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	805						nucleus	catalytic activity|transcription factor binding	p.N805D(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTCGGCGTTGTGCCTGCGC	0.592000													22	78					0	0	0.024334	0	0
OR4L1	122742	broad.mit.edu	37	14	20528475	20528475	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:20528475C>A	ENST00000315683.1	+	1	272	c.272C>A	c.(271-273)aCc>aAc	p.T91N		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GACCACAAGACCATCTCTGTG	0.468000													13	80					2.27111e-07	3.00045e-07	0.013537	1	0
ATP8B1	5205	broad.mit.edu	37	18	55365077	55365077	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:55365077C>T	ENST00000536015.1	-	7	696	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.E193K|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000589147.1_5'UTR	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	193					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E193K(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ACTTGAATTTCTTTCCACTTA	0.353000													4	52					0	0	0.009096	0	0
TGFB2	7042	broad.mit.edu	37	1	218609453	218609453	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:218609453G>T	ENST00000366929.4	+	6	1447	c.980G>T	c.(979-981)cGg>cTg	p.R327L	TGFB2_ENST00000366930.4_Missense_Mutation_p.R299L|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	299					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.R327L(1)|p.R299L(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		ACCAACCGGCGGAAGAAGCGT	0.433000													21	81					2.21704e-12	3.62991e-12	0.016522	1	0
CPA6	57094	broad.mit.edu	37	8	68334754	68334754	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:68334754T>C	ENST00000297770.4	-	11	1514	c.1299A>G	c.(1297-1299)ctA>ctG	p.L433L	CPA6_ENST00000297769.4_Silent_p.L189L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	433					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.L433L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GACATTTCTTTAGCAGGTGCA	0.448000													28	242					0	0	0.009535	0	0
C12orf50	160419	broad.mit.edu	37	12	88379804	88379804	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:88379804T>A	ENST00000298699.2	-	11	1129	c.949A>T	c.(949-951)Aaa>Taa	p.K317*	C12orf50_ENST00000550553.1_Nonsense_Mutation_p.K278*	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	317								p.K317*(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAACTCATTTTATTTTGGGGT	0.438000													11	120					0	0	0.013537	0	0
C1orf74	148304	broad.mit.edu	37	1	209956858	209956858	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:209956858C>G	ENST00000294811.1	-	2	378	c.122G>C	c.(121-123)gGa>gCa	p.G41A		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	41								p.G41A(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		CAGCACCTCTCCAGCTAAGTG	0.597000													30	159					0	0	0.012213	0	0
PTPRT	11122	broad.mit.edu	37	20	40713354	40713354	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:40713354G>T	ENST00000373198.3	-	30	4405	c.4170C>A	c.(4168-4170)gaC>gaA	p.D1390E	PTPRT_ENST00000373201.1_Missense_Mutation_p.D1358E|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1367E|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1378E|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1377E|PTPRT_ENST00000373187.1_Missense_Mutation_p.D1368E|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1371E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1368	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTCCCTCCCGTCATACTGCT	0.602000													5	22					0.014758	0.0153852	0.014758	1	0
GRM3	2913	broad.mit.edu	37	7	86394633	86394633	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:86394633G>A	ENST00000361669.2	+	2	1271	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	GRM3_ENST00000439827.1_Missense_Mutation_p.G58R|GRM3_ENST00000394720.2_Missense_Mutation_p.G56R|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	58					synaptic transmission	integral to plasma membrane		p.G58R(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAAGAATGTGGGCGAATCAA	0.418000													11	114					0	0	0.010729	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887023	9887023	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:9887023C>A	ENST00000306084.6	+	2	746	c.547C>A	c.(547-549)Cca>Aca	p.P183T	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.P116T	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	183	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	p.P183K(1)|p.P116K(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCCAAGGCCCCAGAAGAAAC	0.572000													12	259					0.00244969	0.00266049	0.020292	1	0
PHLDB1	23187	broad.mit.edu	37	11	118509715	118509715	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:118509715A>G	ENST00000361417.2	+	12	3053	c.2642A>G	c.(2641-2643)cAa>cGa	p.Q881R	PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q881R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	881								p.Q881R(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CAGCTGCTGCAAAAGGTAGGG	0.607000													7	31					0	0	0.029380	0	0
MTUS2	23281	broad.mit.edu	37	13	29599270	29599270	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:29599270C>A	ENST00000431530.3	+	1	523	c.465C>A	c.(463-465)gaC>gaA	p.D155E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	145						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.D155E(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCAGTCTAGACGTTTTGGCTA	0.502000													19	135					6.49762e-13	1.07741e-12	0.006122	1	0
PLK2	10769	broad.mit.edu	37	5	57755824	57755824	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:57755824C>A	ENST00000274289.3	-	0	263					NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2						positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CTGCCACCCCCTAGGCGCGGT	0.677000													6	26					0.000157383	0.0001809	0.003080	1	0
TM4SF1	4071	broad.mit.edu	37	3	149089533	149089533	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:149089533T>A	ENST00000472441.1	-	2	391	c.268A>T	c.(268-270)Att>Ttt	p.I90F	TM4SF1_ENST00000305366.3_Missense_Mutation_p.I179F			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	179						integral to plasma membrane		p.I179F(1)		endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTACTTGAATAAGACACAAG	0.443000													13	150					0	0	0.024245	0	0
NCR2	9436	broad.mit.edu	37	6	41309566	41309566	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:41309566C>T	ENST00000373083.4	+	3	651	c.429C>T	c.(427-429)cgC>cgT	p.R143R	NCR2_ENST00000373086.3_Silent_p.R143R|NCR2_ENST00000373089.5_Silent_p.R143R	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	143					cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R143R(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					GGACTCCCCGCGACCTGGTCT	0.617000													19	135					0	0	0.008871	0	0
COL6A5	256076	broad.mit.edu	37	3	130187917	130187917	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:130187917C>A	ENST00000265379.6	+	38	7563	c.7069C>A	c.(7069-7071)Ctg>Atg	p.L2357M	COL6A5_ENST00000432398.2_Missense_Mutation_p.L2357M			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2357	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen		p.L396M(1)|p.L2357M(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCCTGTCTACCTGGAATTTGA	0.458000													10	15					7.48243e-07	9.75643e-07	0.006214	1	0
SLC26A7	115111	broad.mit.edu	37	8	92330508	92330508	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:92330508C>A	ENST00000276609.3	+	5	781	c.542C>A	c.(541-543)gCa>gAa	p.A181E	SLC26A7_ENST00000523719.1_Missense_Mutation_p.A181E|SLC26A7_ENST00000309536.2_Missense_Mutation_p.A181E	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	181						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.A181E(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GTGATCAGCGCAATGACAACT	0.473000													10	161					0.00185496	0.00203155	0.016723	1	0
IPO9	55705	broad.mit.edu	37	1	201832721	201832721	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:201832721G>C	ENST00000361565.4	+	14	1683	c.1614G>C	c.(1612-1614)gtG>gtC	p.V538V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	538					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.V538V(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						TTTCTGCAGTGAGAGCCATCT	0.458000													24	102					0	0	0.021523	0	0
GDPD4	220032	broad.mit.edu	37	11	76996134	76996134	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:76996134C>A	ENST00000315938.4	-	2	299	c.49G>T	c.(49-51)Gac>Tac	p.D17Y	GDPD4_ENST00000527489.1_5'UTR|GDPD4_ENST00000376217.2_Missense_Mutation_p.D17Y	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	17					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.D17Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ACTCACCAGTCAAAGTTAAAG	0.393000													9	49					9.70103e-10	1.43637e-09	0.008291	1	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139366	90139366	+	RNA	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:90139366G>C	ENST00000492446.1	+	0	164																											ATCACTTGTCGGGCGAGTCAG	0.502000													20	190					0	0	0.034045	0	0
OR5M9	390162	broad.mit.edu	37	11	56230095	56230095	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:56230095G>T	ENST00000279791.1	-	1	782	c.783C>A	c.(781-783)ccC>ccA	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493000													13	42					1.61879e-10	2.4758e-10	0.013537	1	0
OR1C1	26188	broad.mit.edu	37	1	247921086	247921086	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247921086A>T	ENST00000408896.2	-	1	896	c.623T>A	c.(622-624)cTc>cAc	p.L208H		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L208H(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGGGGCGTGAGAGCCAATAG	0.468000													7	47					0	0	0.029380	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576803	158576803	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158576803C>A	ENST00000361284.1	+	1	575	c.575C>A	c.(574-576)aCa>aAa	p.T192K		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T192K(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGTGGAGATACAGGCCCGAGT	0.483000													39	163					7.63091e-17	1.38744e-16	0.030466	1	0
GPR35	2859	broad.mit.edu	37	2	241570038	241570038	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:241570038C>G	ENST00000319838.5	+	6	1611	c.669C>G	c.(667-669)ctC>ctG	p.L223L	GPR35_ENST00000438013.2_Silent_p.L254L|GPR35_ENST00000430267.1_Silent_p.L223L|GPR35_ENST00000407714.1_Silent_p.L223L|GPR35_ENST00000403859.1_Silent_p.L223L	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	223						integral to plasma membrane	G-protein coupled receptor activity	p.L223L(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGGCCAACCTCCTGGTGTTCG	0.697000													10	74					0	0	0.006214	0	0
CLEC1B	51266	broad.mit.edu	37	12	10147844	10147844	+	Splice_Site	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:10147844T>A	ENST00000428126.2	-	6	610	c.339_splice	c.e6-1	p.E114_splice	CLEC1B_ENST00000348658.4_Splice_Site_p.E114_splice|CLEC1B_ENST00000298527.6_Splice_Site_p.E147_splice			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	147	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.E147V(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTGATGTACTCCTATTGTAA	0.423000													16	79					0	0	0.006122	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192197	123192197	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:123192197A>T	ENST00000264501.4	+	47	7891	c.7518A>T	c.(7516-7518)ccA>ccT	p.P2506P	KIAA1109_ENST00000455637.1_Silent_p.P2506P|KIAA1109_ENST00000388738.3_Silent_p.P2506P			Q2LD37	K1109_HUMAN	KIAA1109	2506					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.P2506P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCTTCCTCCACTTGAGTTCA	0.393000													4	24					0	0	0.009096	0	0
POLR2A	5430	broad.mit.edu	37	17	7405852	7405852	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:7405852G>T	ENST00000322644.6	+	16	2987	c.2588G>T	c.(2587-2589)cGg>cTg	p.R863L		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	863					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.R863L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATCCAGCGGCGGCTGATCAAG	0.567000													8	65					0.000157383	0.0001809	0.003080	1	0
NRXN1	9378	broad.mit.edu	37	2	51255054	51255054	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:51255054G>T	ENST00000404971.1	-	2	1697	c.358C>A	c.(358-360)Cgc>Agc	p.R120S	NRXN1_ENST00000405581.1_Missense_Mutation_p.R120S|NRXN1_ENST00000401669.2_Missense_Mutation_p.R120S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R120S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R120S|NRXN1_ENST00000406316.2_Missense_Mutation_p.R120S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R120S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	120	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R120S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AACTGGCGGCGGATGCGCACG	0.662000													5	35					0.014758	0.0153852	0.014758	1	0
C1orf173	127254	broad.mit.edu	37	1	75086428	75086428	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:75086428T>C	ENST00000326665.5	-	8	1208	c.990A>G	c.(988-990)ctA>ctG	p.L330L	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.L133L	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	330								p.L330L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTTTCAAGTAGTTTGCCTT	0.348000													9	49					0	0	0.006214	0	0
TTC21A	199223	broad.mit.edu	37	3	39162667	39162667	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:39162667G>T	ENST00000301819.6	+	9	1281	c.1104G>T	c.(1102-1104)atG>atT	p.M368I	TTC21A_ENST00000440121.1_Missense_Mutation_p.M319I|TTC21A_ENST00000431162.2_Missense_Mutation_p.M368I	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	368							binding	p.M368N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AGGATGGCATGGCTGGTTTGA	0.537000													5	57					3.59834e-05	4.29159e-05	0.021553	1	0
AGAP2	116986	broad.mit.edu	37	12	58121759	58121759	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:58121759G>A	ENST00000257897.3	-	14	1744	c.1659C>T	c.(1657-1659)atC>atT	p.I553I	AGAP2_ENST00000547588.1_Silent_p.I909I|AGAP2-AS1_ENST00000542466.2_3'UTR	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	909	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.I909I(1)|p.I553I(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GACTGGCTAGGATCTGACTCT	0.582000													45	328					0	0	0.014410	0	0
OR5K3	403277	broad.mit.edu	37	3	98109949	98109949	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:98109949G>C	ENST00000383695.1	+	1	440	c.440G>C	c.(439-441)gGa>gCa	p.G147A	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147A(1)|p.G147L(1)|p.G147V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGACTGCAGGAGCCTACCTA	0.468000													10	81					0	0	0.008291	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452326	26452326	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:26452326C>G	ENST00000244519.2	+	11	1685	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C	BTN3A3_ENST00000339789.4_Missense_Mutation_p.S439C|BTN3A3_ENST00000361232.3_Missense_Mutation_p.S432C	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	481	B30.2/SPRY.					integral to membrane		p.S481C(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ACAGATGGATCTCATATCTAC	0.483000													15	253					0	0	0.024245	0	0
OR2A2	442361	broad.mit.edu	37	7	143807534	143807534	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:143807534C>A	ENST00000408979.2	+	1	928	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L287M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCTGAACCCCCTGATCTACAG	0.502000													9	210					3.57733e-08	4.94211e-08	0.009535	1	0
LCN15	389812	broad.mit.edu	37	9	139658873	139658873	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:139658873A>T	ENST00000316144.5	-	1	92	c.68T>A	c.(67-69)cTg>cAg	p.L23Q	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	23					lipid metabolic process	extracellular region	binding|transporter activity	p.L23Q(1)		endometrium(1)|lung(1)	2						AGGCTGCAGCAGAACCTCAGC	0.622000													36	53					0	0	0.014410	0	0
FER1L6	654463	broad.mit.edu	37	8	124989713	124989713	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:124989713C>A	ENST00000522917.1	+	10	1133	c.927C>A	c.(925-927)atC>atA	p.I309I	FER1L6_ENST00000399018.1_Silent_p.I309I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	309	C2 2.					integral to membrane		p.I309I(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AACAGGTGATCTTCAAGGAAA	0.517000													25	302					3.28513e-13	5.48929e-13	0.021523	1	0
SERPINA12	145264	broad.mit.edu	37	14	94962858	94962858	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94962858C>A	ENST00000341228.2	-	4	1552	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	SERPINA12_ENST00000556881.1_Missense_Mutation_p.D253Y	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	253					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D253Y(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GAGAGCTTATCGTCATAGCCA	0.443000													29	215					3.67414e-24	7.32574e-24	0.012213	1	0
TPTE	7179	broad.mit.edu	37	21	10951340	10951340	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:10951340C>A	ENST00000298232.7	-	9	685	c.318G>T	c.(316-318)ttG>ttT	p.L106F	TPTE_ENST00000342420.5_Missense_Mutation_p.L86F|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.L124F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	124					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L124F(1)|p.L106F(1)		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)		AACGATACTCCAAAGGAATAT	0.333000													49	129					6.56871e-35	1.36848e-34	0.014410	1	0
WWC3	55841	broad.mit.edu	37	X	10078060	10078060	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:10078060G>T	ENST00000380861.4	+	9	1365	c.974_splice	c.e9+1	p.R325_splice	WWC3_ENST00000454666.1_Splice_Site_p.R325_splice	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	325								p.R325M(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GCCACGGAGAGGTGGGTCAGC	0.672000													7	41					8.12818e-05	9.47681e-05	0.029380	1	0
USP29	57663	broad.mit.edu	37	19	57642509	57642509	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:57642509C>A	ENST00000254181.4	+	4	2920	c.2466C>A	c.(2464-2466)gcC>gcA	p.A822A	USP29_ENST00000598197.1_Silent_p.A822A	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	822					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.A822A(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCTCCAGGCCTACAGACTCA	0.473000													18	48					0.00121646	0.00133677	0.008871	1	0
SOX6	55553	broad.mit.edu	37	11	15994452	15994452	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:15994452C>A	ENST00000352083.6	-	16	2467	c.2390G>T	c.(2389-2391)gGa>gTa	p.G797V	SOX6_ENST00000528429.1_Missense_Mutation_p.G797V|SOX6_ENST00000528252.1_Missense_Mutation_p.G770V|SOX6_ENST00000527619.1_Missense_Mutation_p.G773V|SOX6_ENST00000396356.3_Missense_Mutation_p.G777V|SOX6_ENST00000316399.6_Missense_Mutation_p.G777V			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	797					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G773V(1)|p.G777V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATCCTCTCCATTGATCAT	0.507000													43	138					2.24893e-16	4.04932e-16	0.036044	1	0
ABCC9	10060	broad.mit.edu	37	12	22078928	22078928	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:22078928C>A	ENST00000261200.4	-	3	353	c.354G>T	c.(352-354)tcG>tcT	p.S118S	ABCC9_ENST00000345162.2_Silent_p.S118S|ABCC9_ENST00000261201.4_Silent_p.S118S|ABCC9_ENST00000538350.1_Silent_p.S118S|ABCC9_ENST00000326684.4_Silent_p.S118S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	118					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.S118S(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATACACTATCGATGTTGTAG	0.393000													14	71					7.93312e-07	1.03028e-06	0.020292	1	0
PCDHGA1	56114	broad.mit.edu	37	5	140710390	140710390	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140710390A>T	ENST00000517417.1	+	1	139	c.139A>T	c.(139-141)Aac>Tac	p.N47Y	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.N47Y	NM_018912.2	NP_061735.1												p.N47Y(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTAGGCAACATCGCCAA	0.557000													32	170					0	0	0.009535	0	0
TENM1	10178	broad.mit.edu	37	X	123516528	123516528	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:123516528G>T	ENST00000422452.2	-	31	7495	c.7432C>A	c.(7432-7434)Cct>Act	p.P2478T	TENM1_ENST00000371130.3_Missense_Mutation_p.P2471T|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.P2473T(1)									ACCTTTCCAGGATCCCACTCT	0.348000													55	99					1.35996e-42	2.87005e-42	0.014410	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918651	51918651	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:51918651C>G	ENST00000353836.5	-	7	1335	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	SIGLEC10_ENST00000525998.1_Missense_Mutation_p.E282Q|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.E289Q|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.E314Q|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.E224Q|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.E324Q|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.E372Q|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.E314Q|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.E372Q	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	372	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.E372Q(1)|p.E314Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CTTTGGCCCTCCAGTACTGGG	0.632000													25	72					0	0	0.018920	0	0
OR4K1	79544	broad.mit.edu	37	14	20404138	20404138	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:20404138C>A	ENST00000285600.4	+	1	372	c.313C>A	c.(313-315)Cac>Aac	p.H105N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H105N(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTCGTTCTTCACAGTTTTGT	0.428000													12	182					9.05144e-12	1.44734e-11	0.016723	1	0
HRNR	388697	broad.mit.edu	37	1	152191479	152191479	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152191479G>C	ENST00000368801.2	-	3	2701	c.2626C>G	c.(2626-2628)Cac>Gac	p.H876D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	876					keratinization		calcium ion binding|protein binding	p.H876D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGAAGCGTGATGGGAGGCA	0.612000													16	188					0	0	0.024245	0	0
COL4A1	1282	broad.mit.edu	37	13	110829281	110829281	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:110829281C>T	ENST00000375820.4	-	34	2941	c.2820G>A	c.(2818-2820)aaG>aaA	p.K940K		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	940	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.K583K(1)|p.K940K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCATGTCCACCTTATCCATGG	0.577000													24	138					0	0	0.021523	0	0
FSTL5	56884	broad.mit.edu	37	4	162307436	162307436	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:162307436G>T	ENST00000306100.5	-	16	2443	c.2007C>A	c.(2005-2007)agC>agA	p.S669R	FSTL5_ENST00000427802.2_Missense_Mutation_p.S659R|FSTL5_ENST00000536695.1_Missense_Mutation_p.S668R|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000379164.4_Missense_Mutation_p.S668R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	669						extracellular region	calcium ion binding	p.S669R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTGCTCCGGTGCTGTCAGGTT	0.478000													10	24					9.70103e-10	1.43637e-09	0.008291	1	0
L1CAM	3897	broad.mit.edu	37	X	153135306	153135306	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:153135306T>A	ENST00000370060.1	-	10	1264	c.1075A>T	c.(1075-1077)Agg>Tgg	p.R359W	L1CAM_ENST00000361981.3_Missense_Mutation_p.R354W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R359W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R359W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R361W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R354W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R361W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	359	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R359W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGGGGCCTGCCCTGGACT	0.657000													13	14					0	0	0.020292	0	0
REG1B	5968	broad.mit.edu	37	2	79314057	79314057	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:79314057C>A	ENST00000305089.3	-	3	145		c.e3-1			NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta						cell proliferation	extracellular region	sugar binding	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GACTCCTGGCCTGGGGAAAAA	0.468000													23	172					1.7367e-05	2.11396e-05	0.030593	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603453	111603453	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:111603453C>A	ENST00000431670.2	+	2	940	c.529C>A	c.(529-531)Ctg>Atg	p.L177M	PHLDB2_ENST00000393925.3_Missense_Mutation_p.L177M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.L177M|PHLDB2_ENST00000477695.1_Missense_Mutation_p.L177M|PHLDB2_ENST00000478922.1_Missense_Mutation_p.L177M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.L177M|PHLDB2_ENST00000393923.3_Missense_Mutation_p.L204M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	177						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.L177M(2)|p.L204M(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGGCTCGCTCCTGGCCATGTG	0.542000													14	75					5.01169e-05	5.93911e-05	0.033300	1	0
VCAN	1462	broad.mit.edu	37	5	82849281	82849281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:82849281C>A	ENST00000265077.3	+	11	10157	c.9592C>A	c.(9592-9594)Cgt>Agt	p.R3198S	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444S|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396S|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211S|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R457S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3198	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R3198S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGGGAATGCCGTCTGCAGGG	0.473000													20	121					3.62473e-10	5.46653e-10	0.012319	1	0
OVCH1	341350	broad.mit.edu	37	12	29617594	29617594	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:29617594G>T	ENST00000318184.5	-	18	1970	c.1971C>A	c.(1969-1971)aaC>aaA	p.N657K	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	657	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.N657K(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AACTTAGTGTGTTAAAGTCTT	0.448000													12	125					0.010729	0.0113396	0.010729	1	0
TSHZ3	57616	broad.mit.edu	37	19	31767851	31767851	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:31767851G>T	ENST00000240587.4	-	2	3175	c.2848C>A	c.(2848-2850)Ctg>Atg	p.L950M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	950					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L950M(1)|p.L767M(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACGTTGGCCAGCCAGTGGCTG	0.537000													14	46					2.4624e-09	3.57667e-09	0.008871	1	0
OR51G1	79324	broad.mit.edu	37	11	4945394	4945394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:4945394C>A	ENST00000321961.2	-	1	243	c.176G>T	c.(175-177)gGa>gTa	p.G59V	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G59V(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTACATGGGTCCATGGAGAGT	0.488000													15	47					1.3612e-06	1.74858e-06	0.024245	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928086	92928086	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:92928086C>G	ENST00000373079.3	-	1	481	c.218G>C	c.(217-219)cGc>cCc	p.R73P	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	73					nucleosome assembly	chromatin assembly complex		p.R73P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTATACAAGCGgctgcggct	0.607000													6	13					0	0	0.010729	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178691	57178691	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:57178691C>G	ENST00000554643.1	+	5	976	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HSD17B6_ENST00000555159.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000554150.1_Missense_Mutation_p.F209L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.F209L			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	209					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	p.F209L(3)		endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	CTGGCTACTTCAGAACGGGAA	0.423000													29	453					0	0	0.027356	0	0
CLYBL	171425	broad.mit.edu	37	13	100425245	100425245	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:100425245G>T	ENST00000376355.3	+	2	261	c.230G>T	c.(229-231)gGa>gTa	p.G77V	CLYBL_ENST00000376360.1_Missense_Mutation_p.G77V|CLYBL_ENST00000339105.4_Missense_Mutation_p.G77V|CLYBL_ENST00000444838.2_Missense_Mutation_p.G77V|CLYBL_ENST00000376354.1_Missense_Mutation_p.G77V	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	77					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.G77V(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTGAGGATGGAGTGGCTGCA	0.408000													15	116					2.31682e-05	2.79913e-05	0.024245	1	0
HMGCS2	3158	broad.mit.edu	37	1	120298156	120298156	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:120298156G>C	ENST00000369406.3	-	6	1130	c.1081C>G	c.(1081-1083)Cag>Gag	p.Q361E	HMGCS2_ENST00000544913.2_Missense_Mutation_p.Q319E|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	361					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.Q361E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACATGTCCTGAGAGGCCTTT	0.527000													110	1013					0	0	0.014410	0	0
LOC102724332	102724332	broad.mit.edu	37	2	89161140	89161140	+	RNA	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:89161140C>G	ENST00000430694.1	-	0	721																											GACCAAGGCTCTGTCCAGAAC	0.423000													8	96					0	0	0.006214	0	0
OR51S1	119692	broad.mit.edu	37	11	4869647	4869647	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:4869647G>T	ENST00000322101.2	-	1	867	c.792C>A	c.(790-792)ctC>ctA	p.L264L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	264			L -> F (in dbSNP:rs12361955).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L264L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAGTGCCAGGAGGATCATAG	0.493000													24	142					1.10923e-09	1.63307e-09	0.016522	1	0
LAMC3	10319	broad.mit.edu	37	9	133951287	133951287	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:133951287C>T	ENST00000361069.4	+	21	3697	c.3564C>T	c.(3562-3564)taC>taT	p.Y1188Y	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1188	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.Y1188Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACACCAGCTACGCGCTTCTCT	0.622000													25	21					0	0	0.027356	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202391853	202391853	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:202391853A>T	ENST00000406302.3	+	3	681	c.528A>T	c.(526-528)caA>caT	p.Q176H	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.Q176H|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.Q176H|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.Q176H	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	176					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.Q176H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCTGGAGCAAGTAAAGAAGC	0.448000													11	69					0	0	0.008291	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222674	130222674	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:130222674C>A	ENST00000276211.5	+	12	1904	c.1559C>A	c.(1558-1560)cCt>cAt	p.P520H	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P384H|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P508H	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	520					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.P520H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GCGGGTAACCCTCCCATTCCG	0.537000													12	60					4.3838e-07	5.76816e-07	0.016723	1	0
TROAP	10024	broad.mit.edu	37	12	49724561	49724561	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:49724561G>C	ENST00000551245.1	+	13	2044	c.1933G>C	c.(1933-1935)Gag>Cag	p.E645Q	TROAP_ENST00000547923.1_Missense_Mutation_p.E324Q|TROAP_ENST00000257909.3_Missense_Mutation_p.E645Q			Q12815	TROAP_HUMAN	trophinin associated protein	645	4 X 33 AA approximate tandem repeats.|Cys-rich.				cell adhesion	cytoplasm		p.E645Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGGGGCATCAGAGCCCTGCAC	0.637000													23	165					0	0	0.016522	0	0
GPR179	440435	broad.mit.edu	37	17	36485601	36485601	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:36485601C>T	ENST00000342292.4	-	11	3871	c.3851G>A	c.(3850-3852)gGt>gAt	p.G1284D		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1284						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1284D(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGGGAGTCACCTGGGTCTTG	0.572000													29	166					0	0	0.009535	0	0
OR2M2	391194	broad.mit.edu	37	1	248343721	248343721	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248343721C>A	ENST00000359682.2	+	1	434	c.434C>A	c.(433-435)gCt>gAt	p.A145D		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A145D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGACTTATGGCTACCTTCTCC	0.428000													64	189					6.2918e-36	1.3129e-35	0.014410	1	0
GIPC1	10755	broad.mit.edu	37	19	14593722	14593722	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:14593722C>A	ENST00000393033.4	-	4	336	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	GIPC1_ENST00000393029.3_Intron|GIPC1_ENST00000586027.1_Missense_Mutation_p.G23C|GIPC1_ENST00000591349.1_Intron|GIPC1_ENST00000393028.1_Intron|GIPC1_ENST00000345425.2_Missense_Mutation_p.G23C	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	23					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	p.G23C(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CCTCCACGGCCTGGCTCAGCC	0.711000													7	13					0.00198382	0.00215994	0.029380	1	0
SELRC1	65260	broad.mit.edu	37	1	53153409	53153409	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:53153409G>A	ENST00000371538.3	-	3	718	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	SELRC1_ENST00000486918.1_5'UTR	NM_023077.2	NP_075565.2	Q96BR5	SELR1_HUMAN	Sel1 repeat containing 1	227							binding	p.P227S(1)		breast(1)|lung(3)|prostate(1)|urinary_tract(1)	6						AATGTTAAGGGTTGGACACCT	0.522000													17	74					0	0	0.033300	0	0
KCNH7	90134	broad.mit.edu	37	2	163292066	163292066	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:163292066G>T	ENST00000332142.5	-	8	1695	c.1596C>A	c.(1594-1596)ctC>ctA	p.L532L	KCNH7_ENST00000328032.4_Silent_p.L525L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	532					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCACAAGACGGAGGAGTCGGG	0.443000													5	38					3.59834e-05	4.29159e-05	0.021553	1	0
KLK4	9622	broad.mit.edu	37	19	51412000	51412000	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:51412000G>T	ENST00000324041.1	-	3	309	c.310C>A	c.(310-312)Cgg>Agg	p.R104R	KLK4_ENST00000431178.2_Silent_p.R55R	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	104	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R104R(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		TCTGGGTGCCGTACGGAGAGG	0.607000													23	85					9.39395e-14	1.60475e-13	0.030593	1	0
NOTCH4	4855	broad.mit.edu	37	6	32164759	32164759	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:32164759C>G	ENST00000375023.3	-	28	5281	c.5143G>C	c.(5143-5145)Gac>Cac	p.D1715H	NOTCH4_ENST00000443903.2_Missense_Mutation_p.D124H	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1715					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.D1715H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCAACCAGGTCTTCCACCGCC	0.567000													10	246					0	0	0.008291	0	0
RFX1	5989	broad.mit.edu	37	19	14073934	14073934	+	Splice_Site	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:14073934C>G	ENST00000254325.4	-	19	2958	c.2724_splice	c.e19+1	p.E908_splice		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	908	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.E908D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCTCGCGCACCTCGCCCATGA	0.672000													6	52					0	0	0.003080	0	0
INTS6	26512	broad.mit.edu	37	13	51957561	51957561	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:51957561C>A	ENST00000311234.4	-	9	1556	c.1084G>T	c.(1084-1086)Ggt>Tgt	p.G362C	INTS6_ENST00000463928.1_Intron|INTS6_ENST00000398119.2_Missense_Mutation_p.G349C|INTS6_ENST00000497989.1_Missense_Mutation_p.G184C|INTS6_ENST00000490542.1_Missense_Mutation_p.G46C|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	362					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	p.G362C(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AAAGGATGACCAAGTTCACTG	0.368000													26	77					1.42536e-11	2.27079e-11	0.024334	1	0
EDDM3A	10876	broad.mit.edu	37	14	21216183	21216183	+	Nonstop_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:21216183G>C	ENST00000326842.2	+	2	571	c.444G>C	c.(442-444)taG>taC	p.*148Y		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	0					sperm displacement	extracellular space		p.*148Y(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TCAGCAACTAGAAAGTCTATG	0.453000													9	105					0	0	0.004482	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069770	114069770	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:114069770G>A	ENST00000462705.1	-	11	1757	c.936C>T	c.(934-936)acC>acT	p.T312T	ZBTB20_ENST00000471418.1_Silent_p.T312T|ZBTB20_ENST00000357258.3_Silent_p.T312T|ZBTB20_ENST00000464560.1_Silent_p.T312T|ZBTB20_ENST00000474710.1_Silent_p.T385T|ZBTB20_ENST00000393785.2_Silent_p.T312T|ZBTB20_ENST00000481632.1_Silent_p.T312T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T312T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGTCAGGCTCGGTGCCTATGG	0.662000													28	72					0	0	0.015359	0	0
PKLR	5313	broad.mit.edu	37	1	155264414	155264414	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:155264414C>G	ENST00000392414.3	-	6	844	c.731G>C	c.(730-732)gGg>gCg	p.G244A	PKLR_ENST00000342741.4_Missense_Mutation_p.G275A	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	275					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.G275A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ATGCTCCACCCCGAAGCGCAG	0.677000													8	115					0	0	0.004482	0	0
GPC3	2719	broad.mit.edu	37	X	132730525	132730525	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:132730525T>A	ENST00000370818.3	-	7	1961	c.1516A>T	c.(1516-1518)Att>Ttt	p.I506F	GPC3_ENST00000394299.2_Missense_Mutation_p.I529F|GPC3_ENST00000543339.1_Missense_Mutation_p.I452F	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	506						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.I506F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GAGCCTCCAATGCACTCATCT	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				41	243					0	0	0.010771	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530530	84530530	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:84530530C>A	ENST00000527857.1	+	0	552					NR_026851.1																						GGCTTCCACCCCCTCAGCAAC	0.527000													15	97					3.41278e-10	5.15886e-10	0.033300	1	0
USP31	57478	broad.mit.edu	37	16	23119414	23119414	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:23119414C>T	ENST00000219689.7	-	2	723	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	242					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E242K(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTGAGGTCTTCATGAACTCGG	0.517000													11	75					0	0	0.008291	0	0
BAI1	575	broad.mit.edu	37	8	143570778	143570778	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:143570778C>T	ENST00000517894.1	+	16	3504	c.2610C>T	c.(2608-2610)atC>atT	p.I870I	BAI1_ENST00000323289.5_Silent_p.I870I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	870					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.I870I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTTGGAGATCGAGTTTGCCC	0.567000													81	143					0	0	0.014410	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939636	43939636	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:43939636C>A	ENST00000396879.1	-	4	287	c.175G>T	c.(175-177)Gga>Tga	p.G59*	CATSPER2_ENST00000381761.1_Nonsense_Mutation_p.G65*|CATSPER2_ENST00000355438.2_Nonsense_Mutation_p.G59*|CATSPER2_ENST00000321596.5_Nonsense_Mutation_p.G59*|CATSPER2_ENST00000354127.4_Nonsense_Mutation_p.G59*|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000464721.1_5'UTR			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	59					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.G59*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGTTGATCTCCCAATACAAGT	0.458000													52	132					4.65455e-14	8.01446e-14	0.014410	1	0
GPC2	221914	broad.mit.edu	37	7	99773279	99773279	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:99773279G>T	ENST00000292377.2	-	3	731	c.564C>A	c.(562-564)taC>taA	p.Y188*		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	188						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.Y188*(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGAGCAGGTAGTCAGGGG	0.637000													17	45					5.3912e-06	6.72607e-06	0.006122	1	0
ZNF699	374879	broad.mit.edu	37	19	9407298	9407298	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9407298C>A	ENST00000591998.1	-	6	1010	c.782G>T	c.(781-783)aGc>aTc	p.S261I	ZNF699_ENST00000308650.3_Missense_Mutation_p.S261I			Q32M78	ZN699_HUMAN	zinc finger protein 699	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S261I(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAGGAACAGCTGAAGGCTTT	0.413000													40	84					4.92203e-23	9.6949e-23	0.025465	1	0
DSTYK	25778	broad.mit.edu	37	1	205138360	205138360	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:205138360T>C	ENST00000367162.3	-	3	1285	c.1255A>G	c.(1255-1257)Atg>Gtg	p.M419V	DSTYK_ENST00000367160.4_Missense_Mutation_p.M419V|DSTYK_ENST00000367161.3_Missense_Mutation_p.M419V	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	419						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M419V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TCAACAATCATATCCTTCATT	0.418000													13	139					0	0	0.020292	0	0
FAM46D	169966	broad.mit.edu	37	X	79698195	79698195	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:79698195G>A	ENST00000538312.1	+	5	491	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	FAM46D_ENST00000308293.5_Missense_Mutation_p.G53R	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	53								p.G53R(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCAACTCATAGGGCAAGGAAT	0.383000													17	24					0	0	0.028581	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171766	104171766	+	Silent	SNP	G	G	A	rs150307975		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:104171766G>A	ENST00000392876.3	-	14	1528	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	496							hydrolase activity|metal ion binding	p.F421F(1)|p.F496F(1)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGATGTCAGCGAAGCGCGACA	0.552000													8	141					0	0	0.004482	0	0
RGS22	26166	broad.mit.edu	37	8	101075955	101075955	+	Silent	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:101075955A>G	ENST00000360863.6	-	8	1235	c.1041T>C	c.(1039-1041)aaT>aaC	p.N347N	RGS22_ENST00000523437.1_Silent_p.N335N|RGS22_ENST00000523287.1_Silent_p.N166N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	347					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)			CTTTTGTTATATTGTTGAAGT	0.318000													3	94					0	0	0.004672	0	0
SGSM3	27352	broad.mit.edu	37	22	40801211	40801211	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:40801211G>T	ENST00000248929.9	+	7	730	c.541G>T	c.(541-543)Gtg>Ttg	p.V181L	SGSM3_ENST00000454798.2_Missense_Mutation_p.V114L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	181	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding	p.V181L(1)		cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TAGCATCGGGGTGCCCCGCCT	0.662000													4	41					1.58986e-06	2.02431e-06	0.008291	1	0
DNAH17	8632	broad.mit.edu	37	17	76481769	76481769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:76481769C>A	ENST00000389840.5	-	47	7428	c.7304G>T	c.(7303-7305)tGg>tTg	p.W2435L	DNAH17_ENST00000585328.1_Missense_Mutation_p.W2444L|DNAH17_ENST00000586052.1_5'UTR|RP11-559N14.5_ENST00000585969.1_RNA					dynein, axonemal, heavy chain 17									p.W2444L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATCACCGGCCAGGACTTCTC	0.627000													4	88					1.12685e-05	1.37938e-05	0.004482	1	0
CR1	1378	broad.mit.edu	37	1	207751170	207751170	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:207751170C>A	ENST00000367049.4	+	29	4558	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.P1070T|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.P1070T|CR1_ENST00000367051.1_Missense_Mutation_p.P1070T|CR1_ENST00000367053.1_Missense_Mutation_p.P1070T	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1070	Sushi 24.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.P1075T(1)|p.P1520T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGGCTACCCCCAACCATCGC	0.488000													23	91					1.37657e-19	2.60485e-19	0.012319	1	0
CHD6	84181	broad.mit.edu	37	20	40080657	40080657	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:40080657C>A	ENST00000373233.3	-	22	3509	c.3332G>T	c.(3331-3333)cGg>cTg	p.R1111L	CHD6_ENST00000309279.7_Missense_Mutation_p.R594L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1111					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.R1111L(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTCCTTCCACCGGCCCCAGCT	0.552000													20	35					3.62473e-10	5.46653e-10	0.012319	1	0
WDFY3	23001	broad.mit.edu	37	4	85617181	85617181	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:85617181G>A	ENST00000322366.6	-	57	9199	c.8792C>T	c.(8791-8793)cCa>cTa	p.P2931L	WDFY3_ENST00000295888.4_Missense_Mutation_p.P2948L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2948	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.P2948L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCCTTTAGTGGGTCATTGAT	0.393000													33	64					0	0	0.013726	0	0
KIAA1377	57562	broad.mit.edu	37	11	101832914	101832914	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:101832914G>C	ENST00000263468.8	+	6	1418	c.1148G>C	c.(1147-1149)tGt>tCt	p.C383S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C184S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	383							protein binding	p.C383S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GATAAAAAATGTGAAAAGACC	0.398000													5	38					0	0	0.021553	0	0
IL18R1	8809	broad.mit.edu	37	2	103010927	103010927	+	Splice_Site	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:103010927A>G	ENST00000409599.1	+	11	1467		c.e11-1		IL18R1_ENST00000233957.1_Splice_Site			Q13478	IL18R_HUMAN	interleukin 18 receptor 1						innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.?(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACCTCCTAGATGGAAAAA	0.348000													7	65					0	0	0.003080	0	0
FCRL3	115352	broad.mit.edu	37	1	157659676	157659676	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:157659676A>T	ENST00000368184.3	-	10	2013	c.1722T>A	c.(1720-1722)gcT>gcA	p.A574A	FCRL3_ENST00000368186.5_Silent_p.A574A|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	574						integral to membrane|plasma membrane	receptor activity	p.A574A(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGATTCCCGCAGCGGTAAGGC	0.552000													12	80					0	0	0.016723	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690126	38690126	+	Missense_Mutation	SNP	G	G	A	rs137966537	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:38690126G>A	ENST00000396832.1	-	9	1467	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	CSNK1E_ENST00000359867.3_Missense_Mutation_p.P403S|CSNK1E_ENST00000403904.1_Missense_Mutation_p.P403S|CSNK1E_ENST00000400206.2_Missense_Mutation_p.P403S	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	403					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.P403S(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					TGTGAGGCTGGGATCCGGGAG	0.657000													5	31					0	0	0.014758	0	0
IMPG1	3617	broad.mit.edu	37	6	76744430	76744430	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:76744430A>C	ENST00000369963.3	-	2	331	c.142T>G	c.(142-144)Tgg>Ggg	p.W48G	IMPG1_ENST00000369950.3_Missense_Mutation_p.W126G			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	126					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.W126V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				ATGCTGACCCAGTCCTGATAT	0.498000													35	66					0	0	0.015359	0	0
SND1	27044	broad.mit.edu	37	7	127341287	127341287	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:127341287G>T	ENST00000354725.3	+	5	693	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	167					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.E166_G167>DW(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GTGGAGTGAGGGGAACGGTTC	0.473000													10	115					0.000673444	0.000749552	0.008291	1	0
DOCK5	80005	broad.mit.edu	37	8	25226115	25226115	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:25226115C>T	ENST00000276440.7	+	33	3356	c.3312C>T	c.(3310-3312)tcC>tcT	p.S1104S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1104						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.S1104S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCATCCCATCCATGGTGGGTC	0.398000													8	41					0	0	0.006214	0	0
POTEH	23784	broad.mit.edu	37	22	16287380	16287380	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:16287380C>T	ENST00000343518.6	-	1	557	c.506G>A	c.(505-507)aGg>aAg	p.R169K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	169								p.R169K(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GACGTGGTACCTCGGCTCCAT	0.592000													72	265					0	0	0.014410	0	0
GAN	8139	broad.mit.edu	37	16	81391423	81391423	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:81391423A>G	ENST00000248272.3	+	5	1022	c.860A>G	c.(859-861)aAa>aGa	p.K287R		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	287					cell death	cytoplasm|neurofilament	protein binding	p.K287R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGTTCACGGAAACCCACAGCA	0.413000													28	182					0	0	0.027356	0	0
SLC4A1	6521	broad.mit.edu	37	17	42337252	42337252	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:42337252C>T	ENST00000262418.6	-	7	689	c.534G>A	c.(532-534)ctG>ctA	p.L178L	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	178					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.T179P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGAGCGTGTCAGGACTGCAG	0.602000													38	90					0	0	0.019004	0	0
VCAN	1462	broad.mit.edu	37	5	82837640	82837640	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:82837640G>C	ENST00000265077.3	+	8	9383	c.8818G>C	c.(8818-8820)Gtt>Ctt	p.V2940L	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.V1953L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2940	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.V2940L(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CGATGGTCAAGTTTCTGGAGA	0.403000													22	95					0	0	0.012319	0	0
TNN	63923	broad.mit.edu	37	1	175067651	175067651	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:175067651C>A	ENST00000239462.4	+	9	2152	c.2039C>A	c.(2038-2040)cCg>cAg	p.P680Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	680	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P680Q(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCCTGAGACCGGGTATGGAG	0.592000													19	143					8.10497e-08	1.09527e-07	0.010504	1	0
FAM19A2	338811	broad.mit.edu	37	12	62104171	62104171	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:62104171C>A	ENST00000551449.1	-	3	312	c.134G>T	c.(133-135)aGt>aTt	p.S45I	FAM19A2_ENST00000550003.1_3'UTR|FAM19A2_ENST00000551619.1_3'UTR|FAM19A2_ENST00000416284.3_3'UTR			Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	0						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTGAGGATCACTTGATTTCTC	0.358000													13	59					1.3612e-06	1.74858e-06	0.024245	1	0
ABCB5	340273	broad.mit.edu	37	7	20685634	20685634	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:20685634T>C	ENST00000404938.2	+	9	1506	c.854T>C	c.(853-855)aTa>aCa	p.I285T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	467	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.I285T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAAGGACTATAGCTTCAAAA	0.373000													8	77					0	0	0.004482	0	0
ASB7	140460	broad.mit.edu	37	15	101170046	101170046	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:101170046A>T	ENST00000332783.7	+	5	1401	c.616A>T	c.(616-618)Aca>Tca	p.T206S	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.T206S	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	206					intracellular signal transduction			p.T206S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AGGGGCAGACACAAACTTGGG	0.463000													19	65					0	0	0.006122	0	0
UMPS	7372	broad.mit.edu	37	3	124453975	124453975	+	Translation_Start_Site	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:124453975A>T	ENST00000536109.1	+	0	311				UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron|UMPS_ENST00000232607.2_Silent_p.A64A			P11172	UMPS_HUMAN	uridine monophosphate synthetase						'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	p.A64A(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CCCAAAATGCAGGCATCAGTT	0.323000													13	74					0	0	0.028581	0	0
TMEM257	9142	broad.mit.edu	37	X	144909468	144909468	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:144909468C>A	ENST00000408967.2	+	1	541	c.273C>A	c.(271-273)gcC>gcA	p.A91A		NM_004709.2	NP_004700.1			transmembrane protein 257									p.A91A(2)									TGGTTCCAGCCTACAGAATGC	0.393000													15	15					6.31663e-08	8.58956e-08	0.024245	1	0
VCAN	1462	broad.mit.edu	37	5	82837228	82837228	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:82837228C>A	ENST00000265077.3	+	8	8971	c.8406C>A	c.(8404-8406)tcC>tcA	p.S2802S	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.S1815S|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2802	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.S2802S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGAAGGATCCAATCCCCCAT	0.448000													10	113					0.000442599	0.000498595	0.006214	1	0
POLM	27434	broad.mit.edu	37	7	44118364	44118364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:44118364C>A	ENST00000242248.5	-	5	790	c.689G>T	c.(688-690)cGc>cTc	p.R230L	POLM_ENST00000335195.6_Missense_Mutation_p.R230L|POLM_ENST00000395831.3_Missense_Mutation_p.R230L	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	230					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.R230L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTCTCTGAGCGCCGAACTCT	0.592000								DNA polymerases (catalytic subunits)					8	139					0.000274275	0.000311404	0.004482	1	0
GAB4	128954	broad.mit.edu	37	22	17468885	17468885	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:17468885C>T	ENST00000400588.1	-	3	758	c.651G>A	c.(649-651)tcG>tcA	p.S217S	GAB4_ENST00000523144.1_Intron	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	217								p.S217S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CGTGCTGGTGCGAGCGGAGAC	0.627000													11	24					0	0	0.016723	0	0
CHD5	26038	broad.mit.edu	37	1	6185835	6185835	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:6185835C>A	ENST00000262450.3	-	27	4261	c.4162G>T	c.(4162-4164)Gaa>Taa	p.E1388*	CHD5_ENST00000378021.1_Nonsense_Mutation_p.E245*	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1388					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.E1388*(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCTGCCCTTCCGGCCTCTCT	0.582000													8	304					0.00829132	0.00882778	0.008291	1	0
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:220424002G>T	ENST00000404537.1	-	9	3227	c.3171C>A	c.(3169-3171)ggC>ggA	p.G1057G	OBSL1_ENST00000603926.1_Silent_p.G1057G|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Silent_p.G48G|OBSL1_ENST00000265318.4_Silent_p.G1057G|OBSL1_ENST00000373876.1_Silent_p.G1057G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1057	Ig-like 8.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.G1057G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACAAACTCGCCCCCGTCCT	0.627000													29	155					1.68575e-08	2.36151e-08	0.034045	1	0
CPE	1363	broad.mit.edu	37	4	166385677	166385677	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:166385677G>C	ENST00000402744.4	+	2	723	c.443G>C	c.(442-444)aGt>aCt	p.S148T		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	148					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	p.S148T(1)		endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGATCCACAGTACCCGCATT	0.522000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	49					0	0	0.021553	0	0
IVD	3712	broad.mit.edu	37	15	40708319	40708319	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:40708319G>A	ENST00000249760.2	+	10	1346	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	IVD_ENST00000479013.2_Missense_Mutation_p.A308T|IVD_ENST00000487418.2_Missense_Mutation_p.A338T	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	335					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	p.A335T(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CCGCCTCATGGCGTGTCGGCA	0.572000													13	60					0	0	0.020292	0	0
FANCM	57697	broad.mit.edu	37	14	45658239	45658239	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:45658239G>A	ENST00000267430.5	+	20	5099	c.5014G>A	c.(5014-5016)Gat>Aat	p.D1672N	FANCM_ENST00000542564.2_Missense_Mutation_p.D1646N	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1672					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.D1672N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTACCAGATGATTCAAGTGA	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				38	79					0	0	0.019004	0	0
DMD	1756	broad.mit.edu	37	X	31514907	31514907	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:31514907T>C	ENST00000357033.4	-	57	8751	c.8545A>G	c.(8545-8547)Agg>Ggg	p.R2849G	DMD_ENST00000359836.1_Missense_Mutation_p.R389G|DMD_ENST00000378707.3_Missense_Mutation_p.R389G|DMD_ENST00000343523.2_Missense_Mutation_p.R389G|DMD_ENST00000541735.1_Missense_Mutation_p.R389G|DMD_ENST00000474231.1_Missense_Mutation_p.R389G|DMD_ENST00000378677.2_Missense_Mutation_p.R2845G|DMD_ENST00000445312.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2849					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R2845G(1)|p.R2844G(1)|p.R2849G(1)|p.R389G(1)|p.R1508G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTCCTACCCTATGTACATCG	0.403000													5	15					0	0	0.014758	0	0
LEPR	3953	broad.mit.edu	37	1	66088664	66088664	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:66088664G>T	ENST00000349533.6	+	19	2858	c.2673_splice	c.e19+1	p.K891_splice	LEPR_ENST00000344610.8_Splice_Site_p.K891_splice|LEPR_ENST00000371060.3_Splice_Site_p.K891_splice|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Splice_Site_p.K891_splice|LEPR_ENST00000371059.3_Splice_Site_p.K891_splice	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	891					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	p.K891N(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		ATTTTCAGAAGGTTGCTTTTT	0.343000													4	21					1.23904e-05	1.51102e-05	0.014758	1	0
CTCF	10664	broad.mit.edu	37	16	67654636	67654636	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:67654636G>A	ENST00000264010.4	+	6	1567	c.1123G>A	c.(1123-1125)Gga>Aga	p.G375R	CTCF_ENST00000401394.1_Missense_Mutation_p.G47R	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	375					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.G375R(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CTCTCATACTGGAGAGCGTCC	0.443000													13	106					0	0	0.013537	0	0
PLCE1	51196	broad.mit.edu	37	10	95931134	95931134	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:95931134G>T	ENST00000260766.3	+	4	2324	c.1690G>T	c.(1690-1692)Ggc>Tgc	p.G564C	PLCE1_ENST00000371385.3_Missense_Mutation_p.G256C|PLCE1_ENST00000371380.2_Missense_Mutation_p.G564C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G256C	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	564	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.G564C(1)|p.G256C(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGGGACTTGGGCACTCCTGA	0.527000													38	87					6.03168e-27	1.22137e-26	0.021022	1	0
LARS2	23395	broad.mit.edu	37	3	45530212	45530212	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:45530212G>T	ENST00000415258.1	+	11	1288	c.1147G>T	c.(1147-1149)Gac>Tac	p.D383Y	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.D383Y|LARS2_ENST00000414984.1_Missense_Mutation_p.D340Y			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	383					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	p.D383Y(1)		endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TAGCTCAGAGGACACCATCTT	0.478000													11	69					3.07112e-06	3.85372e-06	0.010729	1	0
XIRP1	165904	broad.mit.edu	37	3	39227262	39227262	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:39227262G>T	ENST00000340369.3	-	2	3903	c.3675C>A	c.(3673-3675)acC>acA	p.T1225T	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1225							actin binding	p.T1225T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGTCTTCAGGGTGGTCTCTG	0.667000													6	29					8.12818e-05	9.47681e-05	0.029380	1	0
SATB2	23314	broad.mit.edu	37	2	200246529	200246529	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:200246529C>A	ENST00000443023.1	-	3	1649	c.184G>T	c.(184-186)Gga>Tga	p.G62*	SATB2_ENST00000428695.1_Intron|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000260926.5_Nonsense_Mutation_p.G121*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.G121*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.G121*			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	121						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.G121*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCCACCTTCCCAGCTTGATT	0.423000													7	44					8.12818e-05	9.47681e-05	0.029380	1	0
ABCC2	1244	broad.mit.edu	37	10	101606846	101606846	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:101606846G>T	ENST00000370449.4	+	30	4388	c.4275G>T	c.(4273-4275)ggG>ggT	p.G1425G		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1425	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.G1425G(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGCAACTTGGGTTATCCCACG	0.542000													18	154					1.56452e-12	2.56803e-12	0.007413	1	0
ABCA13	154664	broad.mit.edu	37	7	48316041	48316041	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:48316041A>G	ENST00000435803.1	+	17	6802	c.6778A>G	c.(6778-6780)Ata>Gta	p.I2260V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2260					transport	integral to membrane	ATP binding|ATPase activity	p.I2260V(1)|p.I2205V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCTGAGAAGCATAGTAGATTT	0.323000													8	11					0	0	0.003080	0	0
C21orf62	56245	broad.mit.edu	37	21	34166535	34166535	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:34166535G>A	ENST00000536776.1	-	2	338	c.198C>T	c.(196-198)gtC>gtT	p.V66V	C21orf62_ENST00000479548.1_Silent_p.V66V|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000490358.1_Silent_p.V66V|C21orf62_ENST00000487113.1_Silent_p.V66V	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	66								p.V66V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				CAAGGGGCAGGACGGTTTTAC	0.542000													9	145					0	0	0.004482	0	0
PLCH2	9651	broad.mit.edu	37	1	2409932	2409932	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:2409932G>A	ENST00000449969.1	+	2	222	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	PLCH2_ENST00000378488.3_Missense_Mutation_p.A48T|PLCH2_ENST00000288766.5_Missense_Mutation_p.A3T|PLCH2_ENST00000378486.3_Missense_Mutation_p.A48T|PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000419816.2_Missense_Mutation_p.A48T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	48	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.A48T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GTGCATGGGTGCCATGCAAGA	0.667000													15	37					0	0	0.033300	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858692	149858692	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:149858692C>G	ENST00000331380.2	+	1	168	c.168C>G	c.(166-168)ctC>ctG	p.L56L		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	56					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L56L(2)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGGCGGTCCTCGAGTACCTGA	0.687000													8	118					0	0	0.010729	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237076	26237076	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:26237076C>G	ENST00000354667.4	-	4	327	c.159G>C	c.(157-159)atG>atC	p.M53I	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.M41I	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	53	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding	p.M41I(1)|p.M53I(1)	HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CAGGATCCCTCATTACCTTTC	0.358000			T	ETV1	prostate								7	76					0	0	0.003080	0	0
OR10R2	343406	broad.mit.edu	37	1	158450094	158450094	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158450094T>A	ENST00000368152.1	+	1	427	c.427T>A	c.(427-429)Tat>Aat	p.Y143N	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y143N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTATGATCGCTATGCTGCCAT	0.493000													34	194					0	0	0.033182	0	0
CHSY3	337876	broad.mit.edu	37	5	129521374	129521374	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:129521374T>C	ENST00000305031.4	+	3	2897	c.2539T>C	c.(2539-2541)Tat>Cat	p.Y847H		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	847						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.Y847H(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CCCTAAGCAGTATAAGATGTG	0.438000													16	42					0	0	0.024245	0	0
TTN	7273	broad.mit.edu	37	2	179440974	179440974	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179440974G>A	ENST00000589042.1	-	326	70109	c.69885C>T	c.(69883-69885)gcC>gcT	p.A23295A	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.A14422A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.A21654A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.A14355A|TTN_ENST00000460472.2_Silent_p.A14230A|TTN_ENST00000342992.6_Silent_p.A20727A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21654	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A14230A(1)|p.A14355A(1)|p.A14422A(1)|p.A20725A(1)|p.A20727A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTCTGAGGGCGGTTCCTG	0.473000													21	91					0	0	0.008871	0	0
DNAH7	56171	broad.mit.edu	37	2	196709748	196709748	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:196709748T>C	ENST00000312428.6	-	47	9023	c.8923A>G	c.(8923-8925)Att>Gtt	p.I2975V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2975	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I2975V(1)		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						CCATTATCAATGGAAAATGAG	0.343000													3	30					0	0	0.009096	0	0
ZNF679	168417	broad.mit.edu	37	7	63726798	63726798	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:63726798A>G	ENST00000421025.1	+	5	1056	c.787A>G	c.(787-789)Act>Gct	p.T263A	ZNF679_ENST00000255746.4_Missense_Mutation_p.T263A	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T263A(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GAGAATTCATACTGGAGAAAA	0.418000													5	30					0	0	0.014758	0	0
LRP1	4035	broad.mit.edu	37	12	57589478	57589478	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:57589478C>G	ENST00000243077.3	+	53	8941	c.8475C>G	c.(8473-8475)tgC>tgG	p.C2825W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2825	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.C2825L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTTCATGTGCCAGAACCGCC	0.617000													25	72					0	0	0.024334	0	0
ELFN2	114794	broad.mit.edu	37	22	37770562	37770562	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:37770562G>T	ENST00000402918.1	-	3	1798	c.1013C>A	c.(1012-1014)aCc>aAc	p.T338N	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.T338N	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	338	Fibronectin type-III.					cell surface|integral to membrane		p.T338N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTTCTTGAGGGTCATGACGTC	0.567000													42	327					2.24893e-16	4.04932e-16	0.036044	1	0
ITGA3	3675	broad.mit.edu	37	17	48153965	48153965	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:48153965G>T	ENST00000320031.8	+	14	2172	c.1842G>T	c.(1840-1842)gaG>gaT	p.E614D	ITGA3_ENST00000007722.7_Missense_Mutation_p.E614D|ITGA3_ENST00000544892.1_3'UTR	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	614					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.E614D(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCAGAAGGAGTGCGGGCCTG	0.677000													22	124					4.47668e-21	8.63454e-21	0.021523	1	0
TOLLIP	54472	broad.mit.edu	37	11	1298328	1298328	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1298328G>T	ENST00000527886.1	-	6	939	c.559C>A	c.(559-561)Cag>Aag	p.Q187K	TOLLIP_ENST00000317204.6_Missense_Mutation_p.Q256K|TOLLIP_ENST00000263646.7_Missense_Mutation_p.Q228K|TOLLIP_ENST00000525159.1_Missense_Mutation_p.Q195K|TOLLIP_ENST00000542915.1_Missense_Mutation_p.Q206K|TOLLIP_ENST00000527938.1_3'UTR			Q9H0E2	TOLIP_HUMAN	toll interacting protein	256					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding	p.Q256K(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		TTCCCTCGCTGGGCTTCCAGC	0.622000													14	150					1.99824e-07	2.65072e-07	0.033300	1	0
LCTL	197021	broad.mit.edu	37	15	66855911	66855911	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:66855911G>T	ENST00000341509.5	-	4	554	c.423C>A	c.(421-423)gcC>gcA	p.A141A	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	141					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L142F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCAGAAGGGCATCGATAA	0.527000													9	55					1.33987e-11	2.13984e-11	0.008291	1	0
PRSS54	221191	broad.mit.edu	37	16	58314359	58314359	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:58314359G>T	ENST00000219301.4	-	7	1351	c.957C>A	c.(955-957)acC>acA	p.T319T	PRSS54_ENST00000567164.1_Silent_p.T319T|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.T220T|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	319					proteolysis	extracellular region	serine-type endopeptidase activity	p.T319T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGCGTGATGGTCCTTCTTT	0.473000													32	72					7.68411e-24	1.52277e-23	0.037714	1	0
TMEM82	388595	broad.mit.edu	37	1	16070920	16070920	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:16070920C>A	ENST00000375782.1	+	4	740	c.602C>A	c.(601-603)cCc>cAc	p.P201H	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	201	Leu-rich.					integral to membrane		p.P201Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATGGCCTCCCCCAGCTGCTG	0.687000													4	14					0.014758	0.0153852	0.014758	1	0
MYOM2	9172	broad.mit.edu	37	8	2054354	2054354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:2054354G>T	ENST00000262113.4	+	23	3106	c.2965G>T	c.(2965-2967)Gga>Tga	p.G989*	MYOM2_ENST00000523438.1_Nonsense_Mutation_p.G414*	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	989	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle	p.G989*(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGATACAGACGGAGTGTCCTC	0.413000													8	39					0.00307968	0.003328	0.003080	1	0
MUC5B	727897	broad.mit.edu	37	11	1281295	1281295	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1281295C>A	ENST00000447027.1	+	46	16970	c.16912C>A	c.(16912-16914)Cca>Aca	p.P5638T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P5635T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5635					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P5590T(1)|p.P5635A(1)|p.P5590A(1)|p.P5635T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCATCCTGCCCAGATGTGTC	0.617000													13	73					5.3912e-06	6.72607e-06	0.006122	1	0
SBSPON	157869	broad.mit.edu	37	8	73993286	73993286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:73993286G>T	ENST00000297354.6	-	2	581	c.377C>A	c.(376-378)aCc>aAc	p.T126N	SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	RPESP_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	126	TSP type-1.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity	p.T121N(1)									GCCCTGCGGGGTGGAGTACTC	0.592000													139	324					6.84576e-71	1.46133e-70	0.014410	1	0
GRM4	2914	broad.mit.edu	37	6	34024378	34024378	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:34024378G>T	ENST00000374181.3	-	5	1280	c.1111C>A	c.(1111-1113)Cac>Aac	p.H371N	GRM4_ENST00000538487.1_Missense_Mutation_p.H371N|GRM4_ENST00000544773.1_Missense_Mutation_p.H202N|GRM4_ENST00000535756.1_Missense_Mutation_p.H238N|GRM4_ENST00000455714.2_Missense_Mutation_p.H231N|GRM4_ENST00000374177.3_Intron|GRM4_ENST00000545715.1_Missense_Mutation_p.H63N	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	371					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F370_H371>LN(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGCTTGCAGTGGAAGTTGTCC	0.647000													12	20					1.61879e-10	2.4758e-10	0.013537	1	0
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247875180C>A	ENST00000302084.2	-	1	925	c.878G>T	c.(877-879)cGt>cTt	p.R293L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCCTTATTACGAAGCGTATA	0.438000													61	213					3.94896e-32	8.12287e-32	0.014410	1	0
FAM19A4	151647	broad.mit.edu	37	3	68802096	68802096	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:68802096T>A	ENST00000295569.7	-	4	696	c.204A>T	c.(202-204)gaA>gaT	p.E68D		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	68						extracellular region		p.E68D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		GTGACCGCTCTTCTATGCGGT	0.537000													61	89					0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158435417	158435417	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158435417G>A	ENST00000289451.2	+	1	146	c.66G>A	c.(64-66)agG>agA	p.R22R		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCCTGGCCAGGCTGCAGCAGC	0.517000													12	91					0	0	0.020292	0	0
ZEB2	9839	broad.mit.edu	37	2	145187523	145187523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:145187523C>G	ENST00000558170.2	-	3	1328	c.144G>C	c.(142-144)gaG>gaC	p.E48D	ZEB2_ENST00000409487.3_Missense_Mutation_p.E48D|ZEB2_ENST00000303660.4_Missense_Mutation_p.E48D|ZEB2_ENST00000539609.3_Missense_Mutation_p.E48D	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	48						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.E48D(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TACCGTCATCCTCAGCAATAT	0.502000													11	69					0	0	0.010729	0	0
WDR41	55255	broad.mit.edu	37	5	76749729	76749729	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:76749729C>G	ENST00000296679.4	-	6	811	c.436G>C	c.(436-438)Gat>Cat	p.D146H	WDR41_ENST00000414719.2_5'UTR|WDR41_ENST00000507029.1_Missense_Mutation_p.D91H	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	146								p.D146H(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AGCCAAACATCTAGTCTCTGA	0.358000													11	71					0	0	0.008291	0	0
CFHR4	10877	broad.mit.edu	37	1	196871708	196871708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:196871708C>A	ENST00000367416.2	+	2	353	c.216C>A	c.(214-216)tgC>tgA	p.C72*	CFHR4_ENST00000251424.4_Nonsense_Mutation_p.C73*|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C73*(1)|p.C72*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACATTCATTGCACACAAGATG	0.393000													10	112					4.68919e-08	6.43711e-08	0.008291	1	0
SLC9A1	6548	broad.mit.edu	37	1	27426945	27426945	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:27426945C>T	ENST00000263980.3	-	12	2876	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	SLC9A1_ENST00000545949.1_Silent_p.K428K	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	767					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.E768*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ACGAAGTCTCCTTGCTCCGCA	0.617000													58	195					0	0	0.014410	0	0
ANK2	287	broad.mit.edu	37	4	114257011	114257011	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:114257011G>T	ENST00000357077.4	+	30	3442	c.3389G>T	c.(3388-3390)aGc>aTc	p.S1130I	ANK2_ENST00000506722.1_Missense_Mutation_p.S1121I|ANK2_ENST00000394537.3_Missense_Mutation_p.S1130I|ANK2_ENST00000509550.1_Missense_Mutation_p.S306I|ANK2_ENST00000264366.6_Missense_Mutation_p.S1097I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1097					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.S1130I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTACTGGATAGCCCAGAAGAC	0.438000													23	37					6.21321e-17	1.13443e-16	0.016522	1	0
OR51V1	283111	broad.mit.edu	37	11	5221709	5221709	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5221709C>T	ENST00000321255.1	-	1	221	c.222G>A	c.(220-222)atG>atA	p.M74I		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M74I(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGGGCCAGCATGGACAGGA	0.527000													5	65					0	0	0.021553	0	0
UBR2	23304	broad.mit.edu	37	6	42600433	42600433	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:42600433G>A	ENST00000372901.1	+	12	1683	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372899.1_Silent_p.Q475Q			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	475					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.Q475Q(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GGAGAGTACAGAGCCTTATTT	0.328000													18	46					0	0	0.033300	0	0
UNC119	9094	broad.mit.edu	37	17	26874688	26874688	+	Missense_Mutation	SNP	C	C	A	rs148433825		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:26874688C>A	ENST00000470125.1	-	3	1090	c.332G>T	c.(331-333)cGg>cTg	p.R111L	UNC119_ENST00000484980.1_Intron|UNC119_ENST00000335765.4_Intron|UNC119_ENST00000301032.4_Missense_Mutation_p.R206L			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)	0					phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction		p.?(1)|p.R206L(1)		breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					AGACCCTGCCCGCGCACTCAG	0.602000													28	60					8.16721e-17	1.4808e-16	0.010818	1	0
SPTB	6710	broad.mit.edu	37	14	65260272	65260272	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:65260272C>A	ENST00000389722.3	-	13	2162	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	SPTB_ENST00000556626.1_Missense_Mutation_p.M703I|SPTB_ENST00000389720.3_Missense_Mutation_p.M703I|SPTB_ENST00000389721.5_Missense_Mutation_p.M703I|SPTB_ENST00000542895.1_Missense_Mutation_p.M703I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	703					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.M703I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGCGCGCAACCATGCCATGAG	0.597000													21	81					4.96729e-08	6.7902e-08	0.008871	1	0
CA9	768	broad.mit.edu	37	9	35676078	35676078	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:35676078C>G	ENST00000378357.4	+	4	726	c.622C>G	c.(622-624)Cct>Gct	p.P208A		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	208	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.P208A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACCCTGCCTCCTGGGCTAGA	0.706000													7	48					0	0	0.003080	0	0
OBSCN	84033	broad.mit.edu	37	1	228548050	228548050	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:228548050G>T	ENST00000284548.11	+	81	19531	c.19457G>T	c.(19456-19458)gGg>gTg	p.G6486V	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.G3605V|OBSCN_ENST00000422127.1_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.G6486V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTGGCCCTGGGCCTGGCGCC	0.657000													20	113					9.95505e-16	1.77525e-15	0.014323	1	0
SCN5A	6331	broad.mit.edu	37	3	38608022	38608022	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:38608022C>G	ENST00000413689.1	-	21	3911	c.3718G>C	c.(3718-3720)Gag>Cag	p.E1240Q	SCN5A_ENST00000455624.2_Missense_Mutation_p.E1239Q|SCN5A_ENST00000443581.1_Missense_Mutation_p.E1239Q|SCN5A_ENST00000425664.1_Missense_Mutation_p.E1240Q|SCN5A_ENST00000414099.2_Missense_Mutation_p.E1240Q|SCN5A_ENST00000451551.2_Missense_Mutation_p.E1186Q|SCN5A_ENST00000333535.4_Missense_Mutation_p.E1240Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.E1239Q|SCN5A_ENST00000450102.2_Missense_Mutation_p.E1186Q|SCN5A_ENST00000449557.2_Missense_Mutation_p.E1186Q	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1240			E -> Q (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.E1240Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCGGCATACTCAAGCAGAACC	0.537000													9	86					0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8633443	8633443	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:8633443C>T	ENST00000381196.4	-	11	769	c.226G>A	c.(226-228)Gat>Aat	p.D76N	PTPRD_ENST00000540109.1_Missense_Mutation_p.D76N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D76N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D76N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D76N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D76N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D76N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D76N|PTPRD_ENST00000463477.1_Missense_Mutation_p.D76N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D76N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D76N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D76N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	76	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D76N(4)		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)		CCAGACCCATCGTCAAACTCT	0.438000										TSP Lung(15;0.13)			12	62					0	0	0.013537	0	0
ITGA8	8516	broad.mit.edu	37	10	15617565	15617565	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:15617565G>A	ENST00000378076.3	-	24	2754	c.2401C>T	c.(2401-2403)Ccc>Tcc	p.P801S		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	801					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P801S(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTATGAATGGGCAGAACAATC	0.438000													6	92					0	0	0.021553	0	0
C5orf28	64417	broad.mit.edu	37	5	43446492	43446492	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:43446492C>A	ENST00000500337.2	-	5	811	c.480G>T	c.(478-480)ggG>ggT	p.G160G	C5orf28_ENST00000511525.1_5'UTR|C5orf28_ENST00000537319.1_Silent_p.G29G|C5orf28_ENST00000512085.1_Silent_p.G160G|C5orf28_ENST00000510130.1_Silent_p.G58G|C5orf28_ENST00000397080.3_Silent_p.G160G			Q0VDI3	CE028_HUMAN	chromosome 5 open reading frame 28	160						integral to membrane		p.G160G(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					CATGACGAATCCCATCTCGGA	0.393000													30	76					1.56442e-22	3.05367e-22	0.012213	1	0
GRHL1	29841	broad.mit.edu	37	2	10101410	10101410	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:10101410C>A	ENST00000324907.9	+	4	650	c.514C>A	c.(514-516)Cca>Aca	p.P172T	GRHL1_ENST00000324883.5_Silent_p.P8P|GRHL1_ENST00000405379.2_Missense_Mutation_p.P172T	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	172					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	p.P172T(1)|p.P8P(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GGGAATCCCCCCAGCAGTGTA	0.542000													14	159					3.27435e-08	4.52836e-08	0.020292	1	0
CELSR3	1951	broad.mit.edu	37	3	48698311	48698311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:48698311C>A	ENST00000544264.1	-	1	2037	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	CELSR3_ENST00000164024.4_Missense_Mutation_p.S586I			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	586	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTATTGCCACTGATGATGTT	0.612000													4	43					0.00909568	0.00962114	0.009096	1	0
NAP1L3	4675	broad.mit.edu	37	X	92928088	92928088	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:92928088G>T	ENST00000373079.3	-	1	479	c.216C>A	c.(214-216)agC>agA	p.S72R	NAP1L3_ENST00000475430.1_5'UTR	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	72	Ser-rich.				nucleosome assembly	chromatin assembly complex		p.S72R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TATACAAGCGgctgcggctgc	0.617000													6	11					0.000978159	0.00108222	0.010729	1	0
TCHH	7062	broad.mit.edu	37	1	152080695	152080695	+	Missense_Mutation	SNP	G	G	T	rs71585886		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152080695G>T	ENST00000368804.1	-	2	4997	c.4998C>A	c.(4996-4998)gaC>gaA	p.D1666E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1666	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.D1666E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAATTTTCTGTCGCGGTCGT	0.597000													152	164					1.29601e-68	2.76198e-68	0.014410	1	0
ZNF521	25925	broad.mit.edu	37	18	22804827	22804827	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:22804827C>A	ENST00000361524.3	-	4	3203	c.3055G>T	c.(3055-3057)Ggc>Tgc	p.G1019C	ZNF521_ENST00000584787.1_Missense_Mutation_p.G799C|ZNF521_ENST00000538137.2_Missense_Mutation_p.G1019C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1019				G -> A (in Ref. 1; CAD57322 and 6; CAB56016).	cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.G1019C(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGCGAAAGCCTGTCAGGGAA	0.502000			T	PAX5	ALL								18	66					8.10497e-08	1.09527e-07	0.010504	1	0
PYROXD2	84795	broad.mit.edu	37	10	100146994	100146994	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:100146994T>C	ENST00000370575.4	-	14	1566	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	506							oxidoreductase activity	p.P506P(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCAAATCTGGTGGTGTGAGGA	0.522000													10	75					0	0	0.006214	0	0
PLAU	5328	broad.mit.edu	37	10	75673077	75673077	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:75673077G>T	ENST00000446342.1	+	5	829	c.347G>T	c.(346-348)tGc>tTc	p.C116F	PLAU_ENST00000372764.3_Missense_Mutation_p.C133F|PLAU_ENST00000372762.4_Missense_Mutation_p.C97F|C10orf55_ENST00000409178.1_Intron|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	133	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	p.C133F(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CGACCCTGGTGCTATGTGCAG	0.577000													24	133					3.69857e-22	7.19781e-22	0.037714	1	0
TAS2R31	259290	broad.mit.edu	37	12	11183830	11183830	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:11183830C>A	ENST00000390675.2	-	1	176	c.105G>T	c.(103-105)cgG>cgT	p.R35R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	35			R -> W (in dbSNP:rs10845295).		sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R35R(1)		kidney(1)|lung(6)	7						GTCTCTTGACCCGCTCAATGG	0.383000													12	64					0.00136819	0.00149971	0.013537	1	0
MBD5	55777	broad.mit.edu	37	2	149227675	149227675	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:149227675G>T	ENST00000407073.1	+	9	3160	c.2163G>T	c.(2161-2163)ccG>ccT	p.P721P	MBD5_ENST00000404807.1_Silent_p.P721P	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	721						chromosome|nucleus	chromatin binding|DNA binding	p.P721P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATAGTACCCCGGGTTGTGGGG	0.443000													9	41					0.000442599	0.000498595	0.006214	1	0
IKZF1	10320	broad.mit.edu	37	7	50455154	50455154	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:50455154G>T	ENST00000331340.3	+	6	856	c.701G>T	c.(700-702)gGc>gTc	p.G234V	IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.G147V|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.G147V|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	234					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.G234V(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCCTTCCGGGCACACTGTAC	0.577000			"""D,T"""	BCL6	"""ALL, DLBCL"""								4	16					3.59834e-05	4.29159e-05	0.021553	1	0
HSD11B1	3290	broad.mit.edu	37	1	209880129	209880129	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:209880129G>C	ENST00000367028.2	+	4	464	c.295G>C	c.(295-297)Gca>Cca	p.A99P	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Missense_Mutation_p.A99P|HSD11B1_ENST00000367027.3_Missense_Mutation_p.A99P	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	99					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.A99T(1)|p.A99P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	CATGACCTTCGCAGAGCAATT	0.532000													32	252					0	0	0.012213	0	0
OR4C6	219432	broad.mit.edu	37	11	55432961	55432961	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:55432961G>T	ENST00000314259.3	+	1	348	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G107C(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTCTTTGGTGGTGTGGGGAT	0.547000													25	78					7.07758e-08	9.61427e-08	0.024334	1	0
TCEB3C	162699	broad.mit.edu	37	18	44554581	44554581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:44554581G>A	ENST00000330682.2	-	1	1868	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.R545*(1)|p.R545R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTTTATCGTCGGGAGAATCTT	0.577000													9	523					0	0	0.033300	0	0
MYO7A	4647	broad.mit.edu	37	11	76910853	76910853	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:76910853C>T	ENST00000409709.3	+	35	5114	c.4842C>T	c.(4840-4842)aaC>aaT	p.N1614N	MYO7A_ENST00000458637.2_Silent_p.N1576N|MYO7A_ENST00000409619.2_Silent_p.N1565N	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1614	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.N1614N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCAGGATAACCCCAACCCCG	0.542000													7	30					0	0	0.003080	0	0
ZNF559	84527	broad.mit.edu	37	19	9449202	9449202	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9449202G>T	ENST00000587557.1	+	3	576	c.169G>T	c.(169-171)Gag>Tag	p.E57*	ZNF559_ENST00000317221.7_5'UTR|ZNF177_ENST00000602738.1_5'UTR|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_5'UTR|ZNF559_ENST00000592896.1_Nonsense_Mutation_p.E21*|ZNF177_ENST00000541595.2_5'UTR|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000592504.1_5'UTR|ZNF559_ENST00000393883.2_5'UTR|ZNF559_ENST00000586255.1_Nonsense_Mutation_p.E21*|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000603380.1_5'UTR	NM_001202406.1|NM_001202408.1|NM_001202409.1|NM_001202411.1	NP_001189335.1|NP_001189337.1|NP_001189338.1|NP_001189340.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CTGTCTTCATGAGTCAAAATT	0.388000													6	67					0.0293803	0.0304338	0.029380	1	0
MTPN	136319	broad.mit.edu	37	7	135614761	135614761	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:135614761C>A	ENST00000393085.3	-	4	486		c.e4-1		MTPN_ENST00000435723.1_Splice_Site|AC015987.1_ENST00000419211.1_RNA	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin						cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	p.?(1)		endometrium(1)|lung(4)|prostate(1)	6						TATCAGCACCCTGGAAAAGAG	0.478000													12	84					2.80697e-09	4.05002e-09	0.010729	1	0
FAT3	120114	broad.mit.edu	37	11	92085508	92085508	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:92085508G>T	ENST00000298047.6	+	1	247	c.230G>T	c.(229-231)tGg>tTg	p.W77L	FAT3_ENST00000541502.1_Missense_Mutation_p.W77L|FAT3_ENST00000409404.2_Missense_Mutation_p.W77L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	77	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W77L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATCTATCCTGGGATATCAAA	0.408000										TCGA Ovarian(4;0.039)			6	42					3.59834e-05	4.29159e-05	0.021553	1	0
CENPC	1060	broad.mit.edu	37	4	68374686	68374686	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:68374686C>G	ENST00000273853.6	-	10	2000	c.1750G>C	c.(1750-1752)Gca>Cca	p.A584P		NM_001812.2	NP_001803.2			centromere protein C									p.A584P(1)									CCTTTAGTTGCTGTCTTCTGC	0.373000													19	62					0	0	0.007413	0	0
MIR29B2	407025	broad.mit.edu	37	1	207975856	207975856	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:207975856C>A	ENST00000385055.1	-	0	12					NR_029518.1																						CATGTGAAACCAGCTTCCAGA	0.433000													16	46					1.3612e-06	1.74858e-06	0.024245	1	0
CCER1	196477	broad.mit.edu	37	12	91348265	91348265	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:91348265C>A	ENST00000358859.2	-	1	688	c.255G>T	c.(253-255)tgG>tgT	p.W85C	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1									p.W85C(1)									CCCAGCACCCCCAGTTAGAGC	0.632000													14	65					2.31682e-05	2.79913e-05	0.024245	1	0
TAGLN3	29114	broad.mit.edu	37	3	111732327	111732327	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:111732327C>A	ENST00000393917.2	+	5	1081	c.529C>A	c.(529-531)Cag>Aag	p.Q177K	TAGLN3_ENST00000273368.4_Missense_Mutation_p.Q177K|TAGLN3_ENST00000478951.1_Missense_Mutation_p.Q177K|TAGLN3_ENST00000486460.1_Missense_Mutation_p.Q93K|TAGLN3_ENST00000455401.2_Missense_Mutation_p.Q177K	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	177					central nervous system development|muscle organ development			p.Q177K(2)		endometrium(2)|lung(5)|urinary_tract(1)	8						AATAGGCCTGCAGATGGGCAG	0.587000													13	153					2.32078e-09	3.37852e-09	0.024245	1	0
DOCK2	1794	broad.mit.edu	37	5	169141187	169141187	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:169141187G>T	ENST00000256935.8	+	18	1895	c.1815G>T	c.(1813-1815)ctG>ctT	p.L605L	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Silent_p.L97L	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	605	DHR-1.				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.L605L(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)			TTTCCACCCTGGTGTGCTCCA	0.547000													8	81					5.4927e-09	7.84672e-09	0.004482	1	0
OR6K2	81448	broad.mit.edu	37	1	158670322	158670322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158670322C>A	ENST00000359610.2	-	1	164	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ACCAGGTTTCCAACAACAATG	0.428000													7	56					8.12818e-05	9.47681e-05	0.029380	1	0
DMPK	1760	broad.mit.edu	37	19	46275986	46275986	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:46275986T>A	ENST00000600757.1	-	9	1959	c.1272A>T	c.(1270-1272)acA>acT	p.T424T	DMPK_ENST00000291270.4_Silent_p.T419T|DMPK_ENST00000447742.2_Silent_p.T414T|DMPK_ENST00000458663.2_Silent_p.T414T|DMPK_ENST00000343373.4_Silent_p.T429T|DMPK_ENST00000354227.5_Silent_p.T414T			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	429	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T429T(1)|p.T419T(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GTTCCATGGGTGTGGGGCCTG	0.612000													12	49					0	0	0.016723	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097954	102097954	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:102097954C>A	ENST00000292566.3	-	3	835	c.796G>T	c.(796-798)Gtc>Ttc	p.V266F		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	266						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.V266F(1)		kidney(1)|lung(5)|skin(2)	8						GTGACGCAGACGCGGCGGGCC	0.687000													6	51					2.17888e-05	2.63983e-05	0.006214	1	0
DCHS2	54798	broad.mit.edu	37	4	155249266	155249266	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:155249266C>A	ENST00000357232.3	-	12	2631	c.2632G>T	c.(2632-2634)Gtt>Ttt	p.V878F	DCHS2_ENST00000339452.1_Missense_Mutation_p.V1333F	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	878	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V878F(1)|p.V1333F(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAGTATGTAACTTCTGCATTA	0.363000													17	37					9.16793e-09	1.29126e-08	0.033300	1	0
VCAN	1462	broad.mit.edu	37	5	82836773	82836773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:82836773C>A	ENST00000265077.3	+	8	8516	c.7951C>A	c.(7951-7953)Cat>Aat	p.H2651N	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.H1664N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2651	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.H2651N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAGGCAACACATGATGAATC	0.433000													15	131					2.94398e-08	4.0845e-08	0.007413	1	0
MTHFR	4524	broad.mit.edu	37	1	11852386	11852386	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:11852386T>C	ENST00000376592.1	-	9	1709	c.1581A>G	c.(1579-1581)caA>caG	p.Q527Q	MTHFR_ENST00000376590.3_Silent_p.Q527Q|MTHFR_ENST00000376585.1_Silent_p.Q568Q|MTHFR_ENST00000376583.3_Silent_p.Q568Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	527					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.Q527Q(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCTTCAGCACTTGCAGAAGTG	0.577000													28	197					0	0	0.034045	0	0
ZNF80	7634	broad.mit.edu	37	3	113955203	113955203	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:113955203G>T	ENST00000482457.2	-	1	1222	c.719C>A	c.(718-720)aCt>aAt	p.T240N		NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T240N(1)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTTCTCTCCAGTGTGACTCCT	0.453000													18	134					4.75885e-15	8.32638e-15	0.033300	1	0
LINC00303	284573	broad.mit.edu	37	1	204006263	204006263	+	RNA	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:204006263G>A	ENST00000367207.3	-	0	757																											GAGGCCCCTGGGGTTGGCCTG	0.537000													11	37					0	0	0.010729	0	0
ANK1	286	broad.mit.edu	37	8	41525854	41525854	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:41525854C>A	ENST00000396942.1	-	39	5408	c.5325G>T	c.(5323-5325)agG>agT	p.R1775S	ANK1_ENST00000396945.1_Missense_Mutation_p.R1775S|ANK1_ENST00000289734.7_Missense_Mutation_p.R1775S|ANK1_ENST00000265709.8_Missense_Mutation_p.R1816S|ANK1_ENST00000379758.2_Missense_Mutation_p.R1775S|ANK1_ENST00000352337.4_Missense_Mutation_p.R1775S|ANK1_ENST00000347528.4_Missense_Mutation_p.R1775S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1775	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1816S(1)|p.R1775S(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTCCGGTCCCTGTCGGCCT	0.622000													14	160					9.16793e-09	1.29126e-08	0.033300	1	0
CTXN3	613212	broad.mit.edu	37	5	126993374	126993374	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:126993374A>G	ENST00000379445.3	+	3	712	c.161A>G	c.(160-162)gAt>gGt	p.D54G	CTC-548H10.2_ENST00000512352.1_RNA|CTXN3_ENST00000395322.3_Missense_Mutation_p.D54G	NM_001048252.2	NP_001041717.1	Q4LDR2	CTXN3_HUMAN	cortexin 3	54						integral to membrane		p.D54G(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		ATTCTTTTGGATCCATATCGA	0.483000													7	67					0	0	0.003080	0	0
FBN2	2201	broad.mit.edu	37	5	127730962	127730962	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:127730962T>A	ENST00000508053.1	-	15	2058	c.1084A>T	c.(1084-1086)Aga>Tga	p.R362*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.R362*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.R329*			P35556	FBN2_HUMAN	fibrillin 2	362					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R362*(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATGCCTGTTCTCTGATCTGTG	0.488000													7	39					0	0	0.004482	0	0
PIWIL1	9271	broad.mit.edu	37	12	130841624	130841624	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:130841624G>C	ENST00000245255.3	+	13	1838	c.1566G>C	c.(1564-1566)atG>atC	p.M522I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	522					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.M522I(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CACCAGCCATGGGCATGCAAA	0.368000													10	30					0	0	0.010729	0	0
C16orf70	80262	broad.mit.edu	37	16	67154014	67154014	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:67154014G>T	ENST00000219139.3	+	2	252		c.e2-1		C16orf70_ENST00000569683.1_Splice_Site|C16orf70_ENST00000569600.1_Splice_Site	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.?(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CTTTATTTCAGGAATGCCTCT	0.473000													34	108					2.85442e-18	5.27844e-18	0.010818	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463694	25463694	+	RNA	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:25463694T>G	ENST00000424208.1	+	0	2977				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CCTGATCTCCTGCACTGAGCT	0.582000													52	140					0	0	0.014410	0	0
USH2A	7399	broad.mit.edu	37	1	216498839	216498839	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:216498839C>A	ENST00000366943.2	-	6	1337	c.951G>T	c.(949-951)cgG>cgT	p.R317R	USH2A_ENST00000307340.3_Silent_p.R317R|USH2A_ENST00000366942.3_Silent_p.R317R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	317	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R317R(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGCAGTACCGCTGTGCCA	0.498000										HNSCC(13;0.011)			21	73					1.00905e-13	1.71472e-13	0.008871	1	0
SOWAHC	65124	broad.mit.edu	37	2	110373178	110373178	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:110373178G>T	ENST00000356454.3	+	1	1268	c.1112G>T	c.(1111-1113)aGg>aTg	p.R371M		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	371								p.R371M(1)									GTGGACATCAGGGACTACAGT	0.637000													27	184					2.48779e-11	3.91542e-11	0.027356	1	0
CCDC106	29903	broad.mit.edu	37	19	56160838	56160838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:56160838G>T	ENST00000586790.1	+	3	1105	c.201G>T	c.(199-201)atG>atT	p.M67I	CCDC106_ENST00000591578.1_Missense_Mutation_p.M67I|CCDC106_ENST00000591241.1_Missense_Mutation_p.M32I|CCDC106_ENST00000588740.1_Missense_Mutation_p.M67I|CCDC106_ENST00000308964.3_Missense_Mutation_p.M67I			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	67						nucleus		p.M67I(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGCTGCACATGGCTCTGGAGA	0.617000													20	42					8.13963e-23	1.5936e-22	0.008871	1	0
CEP250	11190	broad.mit.edu	37	20	34090885	34090885	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:34090885A>T	ENST00000397527.1	+	30	5408	c.4688A>T	c.(4687-4689)gAg>gTg	p.E1563V	CEP250_ENST00000342580.4_Missense_Mutation_p.E1507V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1563	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.E1563V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTGGAACTGGAGGAAAACCAT	0.512000													27	106					0	0	0.009535	0	0
NEK1	4750	broad.mit.edu	37	4	170498205	170498205	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:170498205G>A	ENST00000439128.2	-	11	1534	c.894C>T	c.(892-894)aaC>aaT	p.N298N	NEK1_ENST00000511633.1_Silent_p.N298N|NEK1_ENST00000510533.1_Silent_p.N298N|NEK1_ENST00000507142.1_Silent_p.N298N|NEK1_ENST00000512193.1_Silent_p.N298N	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	298					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N298N(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CAGAAATCGAGTTTTGTCCTG	0.323000													4	43					0	0	0.009096	0	0
GABRA6	2559	broad.mit.edu	37	5	161128727	161128727	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:161128727G>T	ENST00000523217.1	+	9	1522	c.1280G>T	c.(1279-1281)tGg>tTg	p.W427L	GABRA6_ENST00000274545.5_Missense_Mutation_p.W437L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	437					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.W437L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTGTGTACTGGGTAGTTTAT	0.443000										TCGA Ovarian(5;0.080)			20	44					1.50039e-11	2.37867e-11	0.012319	1	0
C1orf172	126695	broad.mit.edu	37	1	27278544	27278544	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:27278544T>A	ENST00000320567.5	-	2	416	c.328A>T	c.(328-330)Agc>Tgc	p.S110C		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	110	Cys-rich.							p.S110C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGCAGGGGCTGCATCCCCGC	0.677000													9	31					0	0	0.013537	0	0
SGSM1	129049	broad.mit.edu	37	22	25294099	25294099	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:25294099C>T	ENST00000400358.4	+	19	2240	c.2183C>T	c.(2182-2184)tCa>tTa	p.S728L	SGSM1_ENST00000400359.4_Missense_Mutation_p.S783L	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	783	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity	p.S728L(1)|p.S783L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCAGAGCACTCAGAGCCCAGT	0.602000													11	176					0	0	0.020292	0	0
BRINP3	339479	broad.mit.edu	37	1	190234069	190234069	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:190234069C>A	ENST00000367462.3	-	4	775	c.544G>T	c.(544-546)Gct>Tct	p.A182S	FAM5C_ENST00000534846.1_Missense_Mutation_p.A80S|FAM5C_ENST00000484105.1_5'UTR|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		182						extracellular region		p.A182S(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAATAAGAAGCGGCTAGCTGA	0.448000													27	80					1.61788e-16	2.92117e-16	0.012213	1	0
CEP112	201134	broad.mit.edu	37	17	63848085	63848085	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:63848085C>A	ENST00000392769.2	-	21	2449	c.2231G>T	c.(2230-2232)cGg>cTg	p.R744L	CEP112_ENST00000541355.1_Missense_Mutation_p.R379L|CEP112_ENST00000535342.2_Missense_Mutation_p.R744L|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.R702L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	744						centrosome		p.R744L(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGCTGTTTCCGCTGTGAGTT	0.433000													13	128					7.03913e-09	9.99003e-09	0.013537	1	0
TRBV10-1	28585	broad.mit.edu	37	7	142231632	142231632	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:142231632G>T	ENST00000390364.3	-	0	352																											ACTCCAGAGTGAGGGGGAGGT	0.517000													20	186					0.000958276	0.00106475	0.007413	1	0
FAM208B	54906	broad.mit.edu	37	10	5790825	5790825	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:5790825G>T	ENST00000328090.5	+	15	6066	c.5441G>T	c.(5440-5442)gGa>gTa	p.G1814V		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1814								p.G1814V(1)									GGCAGAGATGGAGAGGTCGGT	0.493000													9	84					1.12685e-05	1.37938e-05	0.004482	1	0
ZNF154	7710	broad.mit.edu	37	19	58213094	58213094	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:58213094G>T	ENST00000512439.2	-	3	1419	c.1223C>A	c.(1222-1224)aCt>aAt	p.T408N	ZNF154_ENST00000426889.1_Missense_Mutation_p.T408N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	408						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T408N(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTCTCCCCAGTGTGAACCCT	0.443000													8	78					0.000157383	0.0001809	0.003080	1	0
CECR2	27443	broad.mit.edu	37	22	17983998	17983998	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:17983998C>G	ENST00000262608.8	+	6	697	c.697C>G	c.(697-699)Ctc>Gtc	p.L233V	CECR2_ENST00000342247.5_Missense_Mutation_p.L232V|CECR2_ENST00000400573.4_Missense_Mutation_p.L252V|CECR2_ENST00000400585.2_Missense_Mutation_p.L111V	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	274					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.L252V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCTCTACAAGCTCCTCAGTGA	0.567000													5	64					0	0	0.021553	0	0
SAG	6295	broad.mit.edu	37	2	234231626	234231626	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:234231626A>T	ENST00000409110.1	+	6	640	c.410A>T	c.(409-411)cAg>cTg	p.Q137L	SAG_ENST00000449594.2_Missense_Mutation_p.Q3L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	137					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GTGATGTTGCAGCCAGCTCCA	0.343000													3	13					0	0	0.004672	0	0
PKP3	11187	broad.mit.edu	37	11	397119	397119	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:397119C>G	ENST00000331563.2	+	3	694	c.618C>G	c.(616-618)gcC>gcG	p.A206A		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	206					cell adhesion	desmosome|nucleus	binding	p.A206A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCGCGGCCACCTCCACCT	0.716000													11	29					0	0	0.013537	0	0
ATP5A1	498	broad.mit.edu	37	18	43664302	43664302	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:43664302T>C	ENST00000593152.2	-	12	1997	c.1458A>G	c.(1456-1458)tcA>tcG	p.S486S	ATP5A1_ENST00000282050.2_Silent_p.S536S|ATP5A1_ENST00000398752.6_Silent_p.S536S|ATP5A1_ENST00000590665.1_Silent_p.S514S	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	536					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	p.S536S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCTTTGCATCTGATTGTTCTG	0.363000													5	84					0	0	0.014758	0	0
AFAP1	60312	broad.mit.edu	37	4	7795473	7795473	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:7795473C>A	ENST00000420658.1	-	11	1619	c.1347G>T	c.(1345-1347)ctG>ctT	p.L449L	AFAP1_ENST00000382543.3_Silent_p.L449L|AFAP1_ENST00000360265.4_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Silent_p.L449L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	449						actin cytoskeleton|cytoplasm|focal adhesion	actin binding	p.L449L(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGTCATAGTGCAGAGCCTCCG	0.498000													39	185					2.75727e-19	5.19486e-19	0.021022	1	0
POLR2A	5430	broad.mit.edu	37	17	7405853	7405853	+	Silent	SNP	G	G	T	rs148495191	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:7405853G>T	ENST00000322644.6	+	16	2988	c.2589G>T	c.(2587-2589)cgG>cgT	p.R863R		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	863					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.R863L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TCCAGCGGCGGCTGATCAAGT	0.567000													8	62					0.000274275	0.000311404	0.004482	1	0
PNPT1	87178	broad.mit.edu	37	2	55894185	55894185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:55894185C>A	ENST00000447944.2	-	13	1203	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	373					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	p.E373*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATCTACCTCACAACTTACA	0.323000													7	72					8.12818e-05	9.47681e-05	0.029380	1	0
EMC3	55831	broad.mit.edu	37	3	10005863	10005863	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:10005863C>G	ENST00000245046.2	-	8	1134	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3									p.E226Q(1)									TCCGTCAGCTCCAAAGCTTCC	0.488000													7	87					0	0	0.029380	0	0
OR2G2	81470	broad.mit.edu	37	1	247751945	247751945	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247751945T>A	ENST00000320065.1	+	1	284	c.284T>A	c.(283-285)aTc>aAc	p.I95N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I95N(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATGAAAACTATCGCCTATGGT	0.522000													27	193					0	0	0.021523	0	0
KRT35	3886	broad.mit.edu	37	17	39633777	39633777	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:39633777C>A	ENST00000246639.2	-	6	1255	c.1123G>T	c.(1123-1125)Gac>Tac	p.D375Y	KRT35_ENST00000393989.1_Missense_Mutation_p.D405Y			Q92764	KRT35_HUMAN	keratin 35	405	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.E404_D405>DY(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACTTGCTGTCCTCACTCTCC	0.572000													29	72					1.39806e-14	2.42653e-14	0.037714	1	0
SMURF1	57154	broad.mit.edu	37	7	98643368	98643368	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:98643368C>A	ENST00000361125.1	-	12	1606	c.1287G>T	c.(1285-1287)atG>atT	p.M429I	AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.M403I|AC004893.11_ENST00000482799.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	429	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity	p.M429I(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAATTTCACCATCAGCCGTT	0.453000													29	93					8.16721e-17	1.4808e-16	0.010818	1	0
COL24A1	255631	broad.mit.edu	37	1	86246909	86246909	+	Silent	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:86246909A>C	ENST00000370571.2	-	52	4698	c.4332T>G	c.(4330-4332)ggT>ggG	p.G1444G	COL24A1_ENST00000436319.1_Silent_p.G1444G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1444	Collagen-like 17.				cell adhesion	collagen	extracellular matrix structural constituent	p.G1444G(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTACAGTTCTACCTGTTGGGC	0.318000													15	53					0	0	0.024245	0	0
GLDC	2731	broad.mit.edu	37	9	6606658	6606658	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:6606658C>G	ENST00000321612.6	-	5	797	c.647G>C	c.(646-648)aGg>aCg	p.R216T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	216					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.R216T(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAATTTCCTCCTCTTGTTGTG	0.393000													9	317					0	0	0.004482	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14757826	14757826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:14757826G>T	ENST00000358984.4	+	5	810	c.630G>T	c.(628-630)atG>atT	p.M210I	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.M210I	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	210								p.M210I(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CAGCCCTCATGCTTGCCATAT	0.373000													3	32					0.00024832	0.000282924	0.009096	1	0
CAD	790	broad.mit.edu	37	2	27457406	27457406	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:27457406T>A	ENST00000264705.4	+	23	3801	c.3639T>A	c.(3637-3639)atT>atA	p.I1213I	CAD_ENST00000403525.1_Silent_p.I1150I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1213	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.I1213I(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGAAAGTTATTGAATGCAACG	0.547000													38	306					0	0	0.033182	0	0
OR2G3	81469	broad.mit.edu	37	1	247769736	247769736	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247769736C>A	ENST00000320002.2	+	1	881	c.849C>A	c.(847-849)ccC>ccA	p.P283P	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P283P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGTGACCCCCACTTTAAATC	0.428000													9	116					0.00448238	0.0048118	0.004482	1	0
ZNF536	9745	broad.mit.edu	37	19	30934952	30934952	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:30934952G>T	ENST00000355537.3	+	2	630	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P161P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAAGTGCCCGTACTGCGACC	0.657000													6	101					0.00307968	0.003328	0.003080	1	0
DUSP9	1852	broad.mit.edu	37	X	152914893	152914893	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:152914893C>A	ENST00000342782.3	+	3	845	c.580C>A	c.(580-582)Ccc>Acc	p.P194T	DUSP9_ENST00000370167.4_Missense_Mutation_p.P194T			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	194					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.P194T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGCCACACCCCCACCAGT	0.652000													40	71					2.45108e-15	4.31762e-15	0.033182	1	0
ZZZ3	26009	broad.mit.edu	37	1	78098394	78098394	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:78098394C>A	ENST00000370801.3	-	5	1121	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D216Y(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGACAGTCATCACAGTTTATA	0.418000													10	81					2.80697e-09	4.05002e-09	0.010729	1	0
RGPD4	285190	broad.mit.edu	37	2	108487579	108487579	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:108487579C>G	ENST00000408999.3	+	20	3196	c.3119C>G	c.(3118-3120)cCa>cGa	p.P1040R	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1040R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1040	RanBD1 1.				intracellular transport		binding	p.P1040R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CATTTTGAACCAGTAGTTCAA	0.388000													72	384					0	0	0.014410	0	0
ANK1	286	broad.mit.edu	37	8	41548014	41548014	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:41548014T>A	ENST00000396942.1	-	32	4045	c.3962A>T	c.(3961-3963)aAc>aTc	p.N1321I	ANK1_ENST00000396945.1_Missense_Mutation_p.N1321I|ANK1_ENST00000289734.7_Missense_Mutation_p.N1321I|ANK1_ENST00000265709.8_Missense_Mutation_p.N1362I|ANK1_ENST00000379758.2_Missense_Mutation_p.N1321I|ANK1_ENST00000352337.4_Missense_Mutation_p.N1321I|ANK1_ENST00000347528.4_Missense_Mutation_p.N1321I			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1321					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.N1321I(1)|p.N1362I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGCCAGACGGTTCTCCCGAAA	0.562000													50	38					0	0	0.014410	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328566	88328566	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:88328566C>A	ENST00000325089.6	+	2	1142	c.923C>A	c.(922-924)aCc>aAc	p.T308N	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T67N	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	308						integral to membrane		p.T308N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TATTTACACACCACCCCGGCG	0.547000													19	168					2.94398e-08	4.0845e-08	0.007413	1	0
KLKB1	3818	broad.mit.edu	37	4	187178397	187178397	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:187178397C>T	ENST00000264690.6	+	14	1790	c.1603C>T	c.(1603-1605)Cta>Tta	p.L535L	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	535	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.L535L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		CCAAAATATTCTACAAAAGGT	0.279000													6	73					0	0	0.021553	0	0
NLRP3	114548	broad.mit.edu	37	1	247607998	247607998	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247607998C>A	ENST00000366497.2	+	8	3495	c.2715C>A	c.(2713-2715)tcC>tcA	p.S905S	NLRP3_ENST00000348069.2_Silent_p.S848S|NLRP3_ENST00000391827.2_Silent_p.S905S|NLRP3_ENST00000366496.2_Silent_p.S905S|NLRP3_ENST00000391828.3_Silent_p.S962S|NLRP3_ENST00000336119.3_Silent_p.S962S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	962					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.S962S(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)			GGGATCTTTCCACACTTCTGA	0.527000													20	92					1.00905e-13	1.71472e-13	0.008871	1	0
E2F7	144455	broad.mit.edu	37	12	77419548	77419548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:77419548C>A	ENST00000322886.7	-	12	2590	c.2355G>T	c.(2353-2355)ttG>ttT	p.L785F	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	785					cell cycle	transcription factor complex	DNA binding|identical protein binding	p.L785F(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGGCCAGGCAAGCTGAAAT	0.547000													14	59					4.36969e-10	6.55958e-10	0.016723	1	0
CNOT6	57472	broad.mit.edu	37	5	180000988	180000988	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:180000988G>T	ENST00000393356.1	+	14	1886	c.1461_splice	c.e14-1	p.G488_splice	CNOT6_ENST00000261951.4_Splice_Site_p.G488_splice			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	488					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	p.G488C(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TGTTTTTCAGGGTATAATAGA	0.413000													10	60					0.000442599	0.000498595	0.006214	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077595	32077595	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:32077595C>A	ENST00000354689.6	+	0	210				RP11-1166P10.6_ENST00000566806.1_RNA																							GATTCACCATCTCCAGGGACA	0.512000													92	975					6.14238e-36	1.28378e-35	0.014410	1	0
KCNK18	338567	broad.mit.edu	37	10	118969762	118969762	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:118969762T>A	ENST00000334549.1	+	3	1107	c.1107T>A	c.(1105-1107)gtT>gtA	p.V369V		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	369						integral to membrane|plasma membrane		p.V369V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACAAAAATGTTATGCTATTCT	0.378000													28	120					0	0	0.030593	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348157	120348157	+	Splice_Site	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:120348157G>A	ENST00000397843.2	+	36	3620	c.3452_splice	c.e36-1	p.G1152_splice	ARHGEF12_ENST00000532993.1_Splice_Site_p.G1049_splice|ARHGEF12_ENST00000356641.3_Splice_Site_p.G1133_splice	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.G1152R(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCTCTACAGAGGAGATAATGA	0.353000			T	MLL	AML								10	26					0	0	0.008291	0	0
CTNND2	1501	broad.mit.edu	37	5	11346597	11346597	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:11346597C>A	ENST00000304623.8	-	9	1704	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	CTNND2_ENST00000458100.2_Missense_Mutation_p.Q72H|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q414H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q168H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q505H|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	505					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q505H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AATACTGCAGCTGTCGGTAGG	0.637000													21	208					1.28384e-07	1.7153e-07	0.012319	1	0
SERPINA11	256394	broad.mit.edu	37	14	94914725	94914725	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94914725G>T	ENST00000334708.3	-	2	451	c.387C>A	c.(385-387)ccC>ccA	p.P129P	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	129					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.P311P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GTTTGGGGCTGGGCAGGGCAA	0.557000													37	342					5.44703e-19	1.02181e-18	0.036044	1	0
MEGF8	1954	broad.mit.edu	37	19	42863309	42863309	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:42863309G>T	ENST00000334370.4	+	30	5837	c.5202G>T	c.(5200-5202)ggG>ggT	p.G1734G	MEGF8_ENST00000251268.6_Silent_p.G1801G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1801						integral to membrane	calcium ion binding|structural molecule activity	p.G1342V(1)|p.G1734V(1)|p.G1801V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGTTCTTGGGGGGCGCTCGG	0.647000													5	11					0.014758	0.0153852	0.014758	1	0
SYT9	143425	broad.mit.edu	37	11	7441832	7441832	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:7441832G>T	ENST00000318881.6	+	6	1670	c.1433G>T	c.(1432-1434)cGg>cTg	p.R478L		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	478						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R478L(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCATATCCTCGGAAGCCCATT	0.498000													15	114					1.15088e-07	1.54082e-07	0.028581	1	0
CACNA1G	8913	broad.mit.edu	37	17	48655739	48655739	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:48655739C>A	ENST00000352832.5	+	9	2487	c.2115C>A	c.(2113-2115)ctC>ctA	p.L705L	CACNA1G_ENST00000503485.1_Silent_p.L705L|CACNA1G_ENST00000515765.1_Silent_p.L705L|CACNA1G_ENST00000507609.1_Silent_p.L705L|CACNA1G_ENST00000354983.4_Silent_p.L705L|CACNA1G_ENST00000507336.1_Silent_p.L705L|CACNA1G_ENST00000360761.4_Silent_p.L705L|CACNA1G_ENST00000505165.1_Silent_p.L705L|CACNA1G_ENST00000416767.4_Silent_p.L705L|CACNA1G_ENST00000510366.1_Silent_p.L705L|CACNA1G_ENST00000514717.1_Silent_p.L705L|CACNA1G_ENST00000507510.2_Silent_p.L705L|CACNA1G_ENST00000512389.1_Silent_p.L705L|CACNA1G_ENST00000514181.1_Silent_p.L705L|CACNA1G_ENST00000358244.5_Silent_p.L705L|CACNA1G_ENST00000513689.2_Silent_p.L705L|CACNA1G_ENST00000510115.1_Silent_p.L705L|CACNA1G_ENST00000515411.1_Silent_p.L705L|CACNA1G_ENST00000515165.1_Silent_p.L705L|CACNA1G_ENST00000514079.1_Silent_p.L705L|CACNA1G_ENST00000359106.5_Silent_p.L705L|CACNA1G_ENST00000502264.1_Silent_p.L705L|CACNA1G_ENST00000429973.2_Silent_p.L705L|CACNA1G_ENST00000442258.2_Silent_p.L705L|CACNA1G_ENST00000507896.1_Silent_p.L705L|CACNA1G_ENST00000513964.1_Silent_p.L705L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	705					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.L705L(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACAGCGACCTCCGGGACCCCC	0.642000													18	86					8.00594e-06	9.92156e-06	0.007413	1	0
BMS1P20	96610	broad.mit.edu	37	22	22664611	22664611	+	RNA	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:22664611T>G	ENST00000426066.1	+	0	792					NR_027293.1																						CATGCAAACTTGGTATCCTGT	0.403000													25	26					0	0	0.021523	0	0
IGKV6-21	28906	broad.mit.edu	37	2	89459449	89459449	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:89459449C>A	ENST00000390256.2	-	0	191																											CTGACTGGCCCGGCAGGTGAT	0.498000													12	46					4.14922e-12	6.72566e-12	0.028581	1	0
PLXNA4	91584	broad.mit.edu	37	7	131825444	131825444	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:131825444C>A	ENST00000359827.3	-	30	6314	c.5352G>T	c.(5350-5352)acG>acT	p.T1784T	PLXNA4_ENST00000321063.4_Silent_p.T1784T			Q9HCM2	PLXA4_HUMAN	plexin A4	1784						integral to membrane|intracellular|plasma membrane		p.T1784T(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTGCTCTGACGTGGAGCAAG	0.557000													13	130					7.93312e-07	1.03028e-06	0.020292	1	0
KLF10	7071	broad.mit.edu	37	8	103664175	103664175	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:103664175G>A	ENST00000395884.3	-	3	1254	c.352C>T	c.(352-354)Cac>Tac	p.H118Y	KLF10_ENST00000285407.6_Missense_Mutation_p.H129Y	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	129					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H129Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCGGCAATGTGAGGTTTGGCA	0.483000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	286					0	0	0.024334	0	0
HAUS5	23354	broad.mit.edu	37	19	36105968	36105968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:36105968G>T	ENST00000203166.5	+	5	269	c.244G>T	c.(244-246)Gct>Tct	p.A82S	HAUS5_ENST00000379045.2_Missense_Mutation_p.A82S	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	82					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		p.A82S(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGAGCTGGAAGCTGCTGTGAC	0.612000													6	14					3.59834e-05	4.29159e-05	0.021553	1	0
DACH2	117154	broad.mit.edu	37	X	85906144	85906144	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:85906144A>G	ENST00000373131.1	+	3	870	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DACH2_ENST00000510272.1_Missense_Mutation_p.E30G|DACH2_ENST00000508860.1_Missense_Mutation_p.E82G|DACH2_ENST00000373125.4_Missense_Mutation_p.E249G	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ACCGAATCAGAGCCTGATGAT	0.478000													3	17					0	0	0.004672	0	0
FGF14	2259	broad.mit.edu	37	13	102521158	102521158	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:102521158C>A	ENST00000376131.4	-	3	435	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L	FGF14_ENST00000468052.1_5'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.V109L	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	109					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.V114L(1)|p.V109L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CGTAGTCCCACTGGTATGAGG	0.418000													12	53					5.50884e-06	6.84655e-06	0.013537	1	0
SHROOM2	357	broad.mit.edu	37	X	9862978	9862978	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:9862978G>T	ENST00000380913.3	+	4	1120	c.1030G>T	c.(1030-1032)Gct>Tct	p.A344S		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	344	Poly-Ala.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.A344S(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CTCAGAGGCGGCTGCGGCACA	0.667000													14	47					1.49906e-05	1.82641e-05	0.020292	1	0
FMN2	56776	broad.mit.edu	37	1	240492642	240492642	+	Missense_Mutation	SNP	C	C	A	rs143591952		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:240492642C>A	ENST00000319653.9	+	10	4541	c.4311C>A	c.(4309-4311)ttC>ttA	p.F1437L	FMN2_ENST00000545751.1_Missense_Mutation_p.F33L	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1437	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.F1580L(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCTTAGGTTCCTTTATGAAC	0.378000													17	139					8.00594e-06	9.92156e-06	0.007413	1	0
NOTCH2	4853	broad.mit.edu	37	1	120471800	120471800	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:120471800G>C	ENST00000256646.2	-	23	3910	c.3691C>G	c.(3691-3693)Cgg>Ggg	p.R1231G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1231	EGF-like 32; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.R1231G(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGGGACCCCGGGCACAGTCA	0.502000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				15	45					0	0	0.006122	0	0
KRT35	3886	broad.mit.edu	37	17	39633778	39633778	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:39633778C>A	ENST00000246639.2	-	6	1254	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	KRT35_ENST00000393989.1_Missense_Mutation_p.E404D			Q92764	KRT35_HUMAN	keratin 35	404	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.E404_D405>DY(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ACTTGCTGTCCTCACTCTCCA	0.577000													28	73					7.26314e-15	1.26231e-14	0.034045	1	0
HAVCR1	26762	broad.mit.edu	37	5	156479505	156479505	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:156479505C>A	ENST00000339252.3	-	3	1072	c.540G>T	c.(538-540)acG>acT	p.T180T	HAVCR1_ENST00000523175.1_Silent_p.T180T|HAVCR1_ENST00000522693.1_Silent_p.T180T|HAVCR1_ENST00000544197.1_Silent_p.T180T|HAVCR1_ENST00000425854.1_Silent_p.T180T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	175	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T180T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCATTGTCGTCAGAACAG	0.468000													127	783					2.08041e-53	4.41917e-53	0.014410	1	0
AQP3	360	broad.mit.edu	37	9	33442495	33442495	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:33442495T>C	ENST00000297991.4	-	5	594	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	172					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity	p.I172V(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		ACACACACGATAAGGGAGGCT	0.622000													5	43					0	0	0.021553	0	0
TNN	63923	broad.mit.edu	37	1	175053004	175053004	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:175053004A>T	ENST00000239462.4	+	5	1280	c.1167A>T	c.(1165-1167)acA>acT	p.T389T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	389	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T389T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCCATGACAGGACAGGAGG	0.537000													10	125					0	0	0.008291	0	0
TG	7038	broad.mit.edu	37	8	133925417	133925417	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:133925417C>T	ENST00000220616.4	+	20	4325	c.4285C>T	c.(4285-4287)Cac>Tac	p.H1429Y	TG_ENST00000377869.1_Missense_Mutation_p.H1429Y	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1429					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.H1429Y(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAAGGGGACCACTTTGGCAC	0.567000													4	125					0	0	0.021553	0	0
RGPD4	285190	broad.mit.edu	37	2	108487578	108487578	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:108487578C>A	ENST00000408999.3	+	20	3195	c.3118C>A	c.(3118-3120)Cca>Aca	p.P1040T	RGPD4_ENST00000354986.4_Missense_Mutation_p.P1040T	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1040	RanBD1 1.				intracellular transport		binding	p.P1040R(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CCATTTTGAACCAGTAGTTCA	0.383000													72	381					6.20368e-34	1.28216e-33	0.014410	1	0
TEX15	56154	broad.mit.edu	37	8	30703267	30703267	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:30703267C>A	ENST00000256246.2	-	1	3341	c.3267G>T	c.(3265-3267)gtG>gtT	p.V1089V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1089	Ser-rich.							p.V1089V(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTGCTTTGACACATGGGTTA	0.353000													5	23					0.014758	0.0153852	0.014758	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530687	84530687	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:84530687C>A	ENST00000527857.1	+	0	709					NR_026851.1																						CCTGTTTCTCCCTTGGATTCC	0.547000													33	221					5.43694e-19	1.02139e-18	0.023175	1	0
TESPA1	9840	broad.mit.edu	37	12	55357527	55357527	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:55357527G>T	ENST00000524622.1	-	6	901	c.241_splice	c.e6+1	p.A80_splice	TESPA1_ENST00000532804.1_Splice_Site_p.A80_splice|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000316577.8_Splice_Site_p.A218_splice|TESPA1_ENST00000449076.1_Splice_Site_p.A218_splice|TESPA1_ENST00000531122.1_Splice_Site_p.A80_splice	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	218								p.A218A(1)|p.A80A(1)									GACACTCACTGGCCAGCATGA	0.522000													7	20					0.00198382	0.00215994	0.029380	1	0
KIAA0368	23392	broad.mit.edu	37	9	114176853	114176853	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:114176853C>A	ENST00000259335.4	-	20	2376	c.2377G>T	c.(2377-2379)Gat>Tat	p.D793Y	KIAA0368_ENST00000338205.5_Missense_Mutation_p.D615Y	NM_001080398.1	NP_001073867.1			KIAA0368									p.D793Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GGGGCATGATCCTGCATATCA	0.542000													35	106					2.52637e-11	3.97132e-11	0.023175	1	0
ZFPM2	23414	broad.mit.edu	37	8	106573666	106573666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:106573666G>T	ENST00000407775.2	+	4	627	c.377G>T	c.(376-378)tGg>tTg	p.W126L	ZFPM2_ENST00000520492.1_5'UTR|ZFPM2_ENST00000517361.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	126					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.W126L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAACAACCTGGGGGCCGTTT	0.433000													4	59					0.00024832	0.000282924	0.009096	1	0
SOS1	6654	broad.mit.edu	37	2	39222459	39222459	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:39222459T>C	ENST00000426016.1	-	21	3237	c.3151A>G	c.(3151-3153)Agg>Ggg	p.R1051G	SOS1_ENST00000402219.2_Missense_Mutation_p.R1051G|SOS1_ENST00000395038.2_Missense_Mutation_p.R1051G			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1051					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R1051G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTGGGATGCCTCATGGTACCT	0.423000									Noonan syndrome				3	157					0	0	0.004672	0	0
OR14A16	284532	broad.mit.edu	37	1	247978262	247978262	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247978262A>T	ENST00000357627.1	-	1	769	c.770T>A	c.(769-771)cTg>cAg	p.L257Q		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L257Q(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGCTGGCTTCAGATAAGCAAT	0.418000													6	36					0	0	0.021553	0	0
ABHD15	116236	broad.mit.edu	37	17	27893424	27893424	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:27893424G>T	ENST00000307201.4	-	1	731	c.561C>A	c.(559-561)taC>taA	p.Y187*	TP53I13_ENST00000584522.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	187						extracellular region	carboxylesterase activity	p.Y187*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGATGACCGGGTAGTAGCCGC	0.682000													4	37					2.56e-06	3.22168e-06	0.009096	1	0
ACTL6A	86	broad.mit.edu	37	3	179287864	179287864	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:179287864C>A	ENST00000429709.2	+	3	325	c.112C>A	c.(112-114)Cct>Act	p.P38T	ACTL6A_ENST00000450518.2_5'UTR|ACTL6A_ENST00000392662.1_5'UTR	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	38					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.P38T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GGTGGATTTTCCTACAGCTAT	0.368000													7	150					0.00307968	0.003328	0.003080	1	0
GRIN3A	116443	broad.mit.edu	37	9	104449333	104449333	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:104449333G>C	ENST00000361820.3	-	2	1449	c.849C>G	c.(847-849)acC>acG	p.T283T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	283					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.T283T(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AATTATTCTGGGTAAGGAGGA	0.483000													15	110					0	0	0.020292	0	0
CD86	942	broad.mit.edu	37	3	121825185	121825185	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:121825185G>T	ENST00000330540.2	+	4	657	c.541G>T	c.(541-543)Gag>Tag	p.E181*	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Nonsense_Mutation_p.E175*|CD86_ENST00000469710.1_Nonsense_Mutation_p.E99*|CD86_ENST00000493101.1_Nonsense_Mutation_p.E69*	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	181	Ig-like C2-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	p.E181*(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTCAACTATCGAGTATGATGG	0.378000													14	104					6.72482e-11	1.04075e-10	0.024245	1	0
TNN	63923	broad.mit.edu	37	1	175087879	175087879	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:175087879C>A	ENST00000239462.4	+	11	2682	c.2569C>A	c.(2569-2571)Ccg>Acg	p.P857T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	857	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P857T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGGCCTGAGGCCGGGCATGGA	0.587000													20	116					4.35082e-09	6.24979e-09	0.010504	1	0
POTEF	728378	broad.mit.edu	37	2	130832810	130832810	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:130832810C>A	ENST00000357462.5	-	15	2328	c.2235G>T	c.(2233-2235)ggG>ggT	p.G745G	POTEF_ENST00000409914.2_Silent_p.G745G			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	745	Actin-like.					cell cortex	ATP binding	p.G745G(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GATGCATGCCCCCCATCATGC	0.622000													22	122					1.55469e-16	2.81099e-16	0.018920	1	0
SYMPK	8189	broad.mit.edu	37	19	46319799	46319799	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:46319799C>T	ENST00000245934.7	-	25	3539	c.3295G>A	c.(3295-3297)Gag>Aag	p.E1099K	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1099					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	p.E1099K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCTGGCCTCCAAGATGGTC	0.657000													9	49					0	0	0.013537	0	0
PROM1	8842	broad.mit.edu	37	4	16010666	16010666	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:16010666G>T	ENST00000505450.1	-	11	1792	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K	PROM1_ENST00000510224.1_Missense_Mutation_p.Q403K|PROM1_ENST00000543373.1_Missense_Mutation_p.Q394K|PROM1_ENST00000447510.2_Missense_Mutation_p.Q403K|PROM1_ENST00000508167.1_Missense_Mutation_p.Q394K|PROM1_ENST00000540805.1_Missense_Mutation_p.Q403K|PROM1_ENST00000539194.1_Missense_Mutation_p.Q403K	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	403					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	p.Q402K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTATATCCTGAATAGGAAGA	0.353000													7	31					2.0095e-06	2.54863e-06	0.029380	1	0
UBE2R2	54926	broad.mit.edu	37	9	33917170	33917170	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:33917170G>A	ENST00000263228.3	+	5	843	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	218	Asp/Glu-rich (acidic).				protein K48-linked ubiquitination|protein monoubiquitination		ATP binding|ubiquitin-protein ligase activity	p.E218K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		cattgatgatgaagatgagga	0.478000													31	150					0	0	0.034045	0	0
KRT72	140807	broad.mit.edu	37	12	52994912	52994912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:52994912G>T	ENST00000293745.2	-	1	410	c.325C>A	c.(325-327)Ccg>Acg	p.P109T	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000354310.4_Missense_Mutation_p.P109T|KRT72_ENST00000537672.2_Missense_Mutation_p.P109T	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	109	Head.					keratin filament	structural molecule activity	p.P109T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACGTTGAGCGGGGCCAGGAGG	0.667000													19	106					1.50039e-11	2.37867e-11	0.012319	1	0
ELSPBP1	64100	broad.mit.edu	37	19	48517467	48517467	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:48517467G>A	ENST00000339841.2	+	3	288	c.110G>A	c.(109-111)gGa>gAa	p.G37E	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	37	Fibronectin type-II 1.				single fertilization	extracellular region		p.G37E(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		ACCTACAAGGGATCTGTTTAC	0.483000													33	189					0	0	0.017118	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796077	1796077	+	Splice_Site	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:1796077C>T	ENST00000539485.1	-	17	2174	c.1942_splice	c.e17+1	p.L647_splice	ATP8B3_ENST00000310127.6_Splice_Site_p.L647_splice|ATP8B3_ENST00000525591.1_Splice_Site_p.L600_splice			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	647					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.L647L(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGCTCACCCAGCACCGACA	0.667000											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	100					0	0	0.004482	0	0
ZNF229	7772	broad.mit.edu	37	19	44933603	44933603	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:44933603G>A	ENST00000291187.4	-	6	1657	c.1335C>T	c.(1333-1335)caC>caT	p.H445H	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.H451H|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H451H(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAATGTGCTGGTGTTTGTGCA	0.562000													9	76					0	0	0.006214	0	0
SLC5A4	6527	broad.mit.edu	37	22	32614536	32614536	+	Missense_Mutation	SNP	C	C	A	rs148281524	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:32614536C>A	ENST00000266086.4	-	15	1956	c.1945G>T	c.(1945-1947)Gct>Tct	p.A649S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	649					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.A649S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCACCACAGCCAGGAGGAGG	0.448000													8	37					2.17888e-05	2.63983e-05	0.006214	1	0
MARCH6	10299	broad.mit.edu	37	5	10403613	10403613	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:10403613A>G	ENST00000274140.5	+	15	1424	c.1292A>G	c.(1291-1293)tAt>tGt	p.Y431C	MARCH6_ENST00000503788.1_Missense_Mutation_p.Y326C|MARCH6_ENST00000510792.1_Missense_Mutation_p.Y129C|MARCH6_ENST00000449913.2_Missense_Mutation_p.Y383C	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	431					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.Y431C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGAATGGTATATGTCTTCTAC	0.423000													6	83					0	0	0.029380	0	0
TBC1D23	55773	broad.mit.edu	37	3	100002545	100002545	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:100002545T>A	ENST00000394144.4	+	4	373	c.366T>A	c.(364-366)taT>taA	p.Y122*	TBC1D23_ENST00000475134.1_Intron|TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.Y122*|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	122	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						ACATTAAATATAGCACATCCC	0.373000													4	101					0	0	0.009096	0	0
TSC22D2	9819	broad.mit.edu	37	3	150128499	150128499	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:150128499G>T	ENST00000361875.2	+	1	2378	c.1362G>T	c.(1360-1362)ccG>ccT	p.P454P	TSC22D2_ENST00000361136.2_Silent_p.P454P	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	454							sequence-specific DNA binding transcription factor activity	p.P454P(1)		cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CTTGTCAGCCGACTGGAGTGC	0.746000													4	7					0.00909568	0.00962114	0.009096	1	0
FSHR	2492	broad.mit.edu	37	2	49189949	49189949	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:49189949G>T	ENST00000406846.2	-	10	2130	c.2011C>A	c.(2011-2013)Cac>Aac	p.H671N	FSHR_ENST00000346173.3_Missense_Mutation_p.H609N|FSHR_ENST00000541117.1_Missense_Mutation_p.H407N|FSHR_ENST00000304421.4_Missense_Mutation_p.H645N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	671					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.H671N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GAAGAGCAGTGGCCATTCCTT	0.443000									Gonadal Dysgenesis, 46 XX				9	99					7.93312e-07	1.03028e-06	0.020292	1	0
FBN3	84467	broad.mit.edu	37	19	8176862	8176862	+	Splice_Site	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:8176862G>A	ENST00000600128.1	-	31	4374	c.3961_splice	c.e31+1	p.H1320_splice	FBN3_ENST00000270509.2_Splice_Site_p.H1320_splice|FBN3_ENST00000601739.1_Splice_Site_p.H1320_splice			Q75N90	FBN3_HUMAN	fibrillin 3	1320	EGF-like 19; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.H1320H(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTACTCACCGTGACATTCGA	0.642000													11	69					0	0	0.013537	0	0
EFCAB5	374786	broad.mit.edu	37	17	28434942	28434942	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:28434942T>C	ENST00000394835.3	+	23	4604	c.4412T>C	c.(4411-4413)aTa>aCa	p.I1471T	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.I943T|EFCAB5_ENST00000320856.5_Missense_Mutation_p.I1347T	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1471							calcium ion binding	p.I1471T(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGAAGATAACCAAACAA	0.403000													7	49					0	0	0.029380	0	0
LRP1B	53353	broad.mit.edu	37	2	141135813	141135813	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:141135813C>G	ENST00000389484.3	-	68	11545	c.10574G>C	c.(10573-10575)gGg>gCg	p.G3525A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3525	LDL-receptor class A 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G3525A(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACACAGTCCCCATTGGCACA	0.398000										TSP Lung(27;0.18)			6	28					0	0	0.021553	0	0
FAT3	120114	broad.mit.edu	37	11	92533122	92533122	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:92533122G>T	ENST00000298047.6	+	9	6960	c.6943G>T	c.(6943-6945)Gac>Tac	p.D2315Y	FAT3_ENST00000409404.2_Missense_Mutation_p.D2315Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D2165Y			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2315	Cadherin 21.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.D2315Y(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TATTGATGCAGACTCAGAAAA	0.378000										TCGA Ovarian(4;0.039)			16	20					2.32078e-09	3.37852e-09	0.024245	1	0
TP53	7157	broad.mit.edu	37	17	7576928	7576928	+	Splice_Site	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:7576928T>C	ENST00000420246.2	-	9	1052		c.e9-2		TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGGGCAGTGCTAGGAAAGAGG	0.493000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	85					0	0	0.013726	0	0
APOB	338	broad.mit.edu	37	2	21235092	21235092	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:21235092G>T	ENST00000233242.1	-	26	4775	c.4648C>A	c.(4648-4650)Ctg>Atg	p.L1550M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1550					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.L1550M(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCACTTTGCAGATCAGAGGTG	0.443000													13	84					1.3612e-06	1.74858e-06	0.024245	1	0
CASP2	835	broad.mit.edu	37	7	143000892	143000892	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:143000892G>T	ENST00000310447.5	+	9	1224	c.983G>T	c.(982-984)gGg>gTg	p.G328V	CASP2_ENST00000493642.1_3'UTR	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	328					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding	p.G328V(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					ACTGATCGTGGGGTTGACCAA	0.522000													12	39					2.61681e-11	4.09863e-11	0.020292	1	0
USH2A	7399	broad.mit.edu	37	1	216420298	216420298	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:216420298C>T	ENST00000366943.2	-	13	2824	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	USH2A_ENST00000307340.3_Missense_Mutation_p.G813E|USH2A_ENST00000366942.3_Missense_Mutation_p.G813E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	813	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G813E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GATGCACTGCCCTGTCTTAGC	0.463000										HNSCC(13;0.011)			11	46					0	0	0.008291	0	0
POTEG	404785	broad.mit.edu	37	14	19566063	19566063	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:19566063T>C	ENST00000409832.3	+	6	1159	c.1107T>C	c.(1105-1107)tcT>tcC	p.S369S	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	369								p.S369S(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAAAAGTCTCTTCTGAAAACA	0.328000													5	94					0	0	0.021553	0	0
CD207	50489	broad.mit.edu	37	2	71058869	71058869	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:71058869C>A	ENST00000410009.3	-	5	844	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	267	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.W266_V267>CL(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GTGTCATCCACCCAGGACCAG	0.562000													18	138					6.94344e-10	1.03872e-09	0.006122	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128838969	128838969	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:128838969G>A	ENST00000310343.9	-	22	6096	c.6097C>T	c.(6097-6099)Cct>Tct	p.P2033S	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1684S|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1684S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2033	Interaction with FYN.				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	p.P2033S(1)|p.P1684S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGGTGCTGAGGCAGGGAGTGG	0.592000													7	52					0	0	0.029380	0	0
NTNG2	84628	broad.mit.edu	37	9	135042221	135042221	+	Translation_Start_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:135042221G>T	ENST00000393229.3	+	2	779	c.3G>T	c.(1-3)atG>atT	p.M1I	NTNG2_ENST00000360670.3_Start_Codon_SNP_p.M1I|NTNG2_ENST00000393228.4_Start_Codon_SNP_p.M1I|NTNG2_ENST00000372179.3_Start_Codon_SNP_p.M1I	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	1					axonogenesis	anchored to plasma membrane		p.M1I(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCAGCCATGCTGCATCTGC	0.647000													22	208					1.9806e-07	2.6408e-07	0.014323	1	0
ZEB2	9839	broad.mit.edu	37	2	145156600	145156600	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:145156600G>T	ENST00000558170.2	-	8	3338	c.2154C>A	c.(2152-2154)aaC>aaA	p.N718K	ZEB2_ENST00000409487.3_Missense_Mutation_p.N718K|ZEB2_ENST00000303660.4_Missense_Mutation_p.N718K|ZEB2_ENST00000539609.3_Missense_Mutation_p.N694K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	718						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.N718K(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGGTTACTGTTGGGAGCTA	0.443000													36	237					4.01765e-15	7.03902e-15	0.036044	1	0
DOCK7	85440	broad.mit.edu	37	1	62995099	62995099	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:62995099C>G	ENST00000251157.5	-	30	3663	c.3630G>C	c.(3628-3630)aaG>aaC	p.K1210N	DOCK7_ENST00000340370.5_Missense_Mutation_p.K1179N	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1210					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	p.K1179N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGATGACTTTCTTATGCAATC	0.398000													8	35					0	0	0.003080	0	0
MDC1	9656	broad.mit.edu	37	6	30675547	30675547	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:30675547C>A	ENST00000376406.3	-	8	3456	c.2809G>T	c.(2809-2811)Gtg>Ttg	p.V937L	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	937				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.V937L(1)		breast(2)|kidney(1)|ovary(1)	4						ACTTTGGGCACCTTCTCTTCT	0.547000								Other conserved DNA damage response genes					69	183					7.25294e-45	1.53314e-44	0.014410	1	0
OR4A47	403253	broad.mit.edu	37	11	48510594	48510594	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:48510594T>A	ENST00000446524.1	+	1	326	c.250T>A	c.(250-252)Ttc>Atc	p.F84I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F84I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TTCAGGCTTGTTCTTTGGGAA	0.433000													11	108					0	0	0.010729	0	0
TEX261	113419	broad.mit.edu	37	2	71220883	71220883	+	Silent	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:71220883T>G	ENST00000606025.1	-	2	671	c.93A>C	c.(91-93)gcA>gcC	p.A31A	TEX261_ENST00000466731.1_5'UTR|TEX261_ENST00000272438.4_Silent_p.A31A														p.A31A(1)									CTATCAGTTCTGCCAGGTAAT	0.542000													33	203					0	0	0.025465	0	0
STAU2	27067	broad.mit.edu	37	8	74464373	74464373	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:74464373G>A	ENST00000355780.5	-	12	1526	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	STAU2_ENST00000517542.1_Silent_p.L430L|STAU2_ENST00000522695.1_Silent_p.L436L|STAU2_ENST00000521210.1_Silent_p.L364L|STAU2_ENST00000522509.1_Silent_p.L436L|STAU2_ENST00000521727.1_Silent_p.L448L|STAU2_ENST00000521451.1_Silent_p.L248L|STAU2_ENST00000523558.1_Silent_p.L296L|STAU2_ENST00000524300.1_Silent_p.L468L|STAU2_ENST00000519961.1_Silent_p.L468L	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	468	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	p.L364L(1)|p.L436L(1)|p.L468L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			CATTCATAAGGAGTTCCCTGG	0.418000													12	150					0	0	0.020292	0	0
MEP1A	4224	broad.mit.edu	37	6	46803277	46803277	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:46803277C>A	ENST00000230588.4	+	13	2084	c.2075C>A	c.(2074-2076)gCg>gAg	p.A692E		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	692	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.A692E(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AAGGGGATGGCGAGCTGCAGG	0.592000													11	22					5.16669e-11	8.04394e-11	0.010729	1	0
TCF4	6925	broad.mit.edu	37	18	52942961	52942961	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:52942961A>T	ENST00000354452.3	-	10	1289	c.678T>A	c.(676-678)ccT>ccA	p.P226P	TCF4_ENST00000398339.1_Silent_p.P328P|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Silent_p.P66P|TCF4_ENST00000537578.1_Silent_p.P202P|TCF4_ENST00000356073.4_Silent_p.P226P|TCF4_ENST00000567880.1_Silent_p.P166P|TCF4_ENST00000566279.1_Silent_p.P166P|TCF4_ENST00000568740.1_Silent_p.P201P|TCF4_ENST00000537856.3_Silent_p.P96P|TCF4_ENST00000568673.1_Silent_p.P202P|TCF4_ENST00000561992.1_Silent_p.P96P|TCF4_ENST00000565018.2_Silent_p.P226P|TCF4_ENST00000457482.3_Silent_p.P66P|TCF4_ENST00000543082.1_Silent_p.P184P|TCF4_ENST00000570177.2_Silent_p.P96P|TCF4_ENST00000540999.1_Silent_p.P202P|TCF4_ENST00000564999.1_Silent_p.P226P|TCF4_ENST00000566286.1_Silent_p.P224P|TCF4_ENST00000570287.2_Silent_p.P66P|TCF4_ENST00000564403.2_Silent_p.P232P|TCF4_ENST00000564228.1_Silent_p.P155P|TCF4_ENST00000544241.2_Silent_p.P155P	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	226					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	p.P328P(1)|p.P226P(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGAGCTCCAAGGGTCACTGC	0.478000													10	112					0	0	0.010729	0	0
CCDC141	285025	broad.mit.edu	37	2	179702335	179702335	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179702335T>A	ENST00000420890.2	-	23	3728	c.3611A>T	c.(3610-3612)gAa>gTa	p.E1204V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E629V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	629							protein binding	p.E1204V(1)|p.E629V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCATATTCTTCCCCTGAGAG	0.567000													18	109					0	0	0.008871	0	0
TRRAP	8295	broad.mit.edu	37	7	98519430	98519430	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:98519430C>A	ENST00000359863.4	+	21	2886	c.2677C>A	c.(2677-2679)Cgt>Agt	p.R893S	TRRAP_ENST00000446306.3_Missense_Mutation_p.R892S|TRRAP_ENST00000355540.3_Missense_Mutation_p.R893S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	893			R -> C (in an ovarian serous carcinoma sample; somatic mutation).		histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R893S(2)|p.R893C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGTGGCCTACCGTGTGCTCGG	0.547000													32	210					4.4194e-11	6.90532e-11	0.013726	1	0
FER1L6	654463	broad.mit.edu	37	8	125074234	125074234	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:125074234G>T	ENST00000522917.1	+	25	3495	c.3289G>T	c.(3289-3291)Gcc>Tcc	p.A1097S	FER1L6_ENST00000399018.1_Missense_Mutation_p.A1097S|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1097						integral to membrane		p.A1097S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGAGCCCCTTGCCCCCATCAC	0.522000													95	134					9.79205e-48	2.07324e-47	0.014410	1	0
OR51I1	390063	broad.mit.edu	37	11	5462385	5462385	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5462385C>G	ENST00000380211.1	-	1	359	c.360G>C	c.(358-360)atG>atC	p.M120I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M120I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCCAAGCTCATGGCCAGCA	0.468000													9	76					0	0	0.004482	0	0
ALG10	84920	broad.mit.edu	37	12	34175689	34175689	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:34175689A>T	ENST00000266483.2	+	1	474	c.155A>T	c.(154-156)cAt>cTt	p.H52L	ALG10_ENST00000538927.1_Missense_Mutation_p.H52L|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	52					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.H52L(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TGTGAGGGCCATTTCTCCCTT	0.632000													56	456					0	0	0.014410	0	0
PXDNL	137902	broad.mit.edu	37	8	52366196	52366196	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:52366196C>A	ENST00000356297.4	-	10	1232	c.1132G>T	c.(1132-1134)Gca>Tca	p.A378S	PXDNL_ENST00000543296.1_Missense_Mutation_p.A378S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	378	Ig-like C2-type 2.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A378S(1)		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)				CTGGACGTTGCCACGTGCCTG	0.522000													5	89					0.000602214	0.000673155	0.014758	1	0
MAGEC3	139081	broad.mit.edu	37	X	140984513	140984513	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:140984513G>T	ENST00000544766.1	+	5	602	c.75G>T	c.(73-75)ttG>ttT	p.L25F	MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Missense_Mutation_p.L25F|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.L25F	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	0								p.L25F(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGGACTTGGTAGATGCAC	0.522000													85	129					2.75442e-36	5.7754e-36	0.014410	1	0
POTEA	340441	broad.mit.edu	37	8	43147871	43147871	+	RNA	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:43147871G>C	ENST00000522175.2	+	0	246							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.D82H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCCCAGAGCGGATCTCATCGT	0.617000													28	98					0	0	0.034045	0	0
ADCY2	108	broad.mit.edu	37	5	7626390	7626390	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:7626390C>T	ENST00000338316.4	+	4	770	c.681C>T	c.(679-681)atC>atT	p.I227I		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	227					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.I227I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GTAATTGCATCAAGTCGCGGA	0.403000													13	120					0	0	0.013537	0	0
ZNF496	84838	broad.mit.edu	37	1	247492745	247492745	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247492745G>A	ENST00000294753.4	-	3	600	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	ZNF496_ENST00000366498.2_Missense_Mutation_p.R46C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	46	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R46C(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGGAAACGGCGGAAGAGACGC	0.692000													20	76					0	0	0.012319	0	0
MED6	10001	broad.mit.edu	37	14	71058048	71058048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:71058048G>A	ENST00000256379.5	-	6	546	c.517C>T	c.(517-519)Cag>Tag	p.Q173*	MED6_ENST00000430055.2_Nonsense_Mutation_p.Q180*|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000440435.2_Intron|MED6_ENST00000554963.1_Nonsense_Mutation_p.Q173*	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	173					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	p.Q173*(1)		large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		CGTTGTCTCTGAAAAATAGAG	0.353000													11	104					0	0	0.013537	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812312	140812312	+	Silent	SNP	G	G	T	rs138883931	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140812312G>T	ENST00000252085.3	+	1	2128	c.1986G>T	c.(1984-1986)gtG>gtT	p.V662V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.V662V(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCACCGTGGCCGTGGCCG	0.657000													32	93					2.45108e-15	4.31762e-15	0.033182	1	0
RGS1	5996	broad.mit.edu	37	1	192544976	192544976	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:192544976C>A	ENST00000367459.3	+	1	120	c.54C>A	c.(52-54)ttC>ttA	p.F18L	RGS1_ENST00000469578.2_Missense_Mutation_p.F18L	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	18					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.F5L(1)|p.F18L(1)		kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				CAGGAATGTTCTTCTCTGCTA	0.433000													4	21					0.000602214	0.000673155	0.014758	1	0
C12orf71	728858	broad.mit.edu	37	12	27235077	27235077	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:27235077G>T	ENST00000429849.2	-	1	370	c.340C>A	c.(340-342)Ctg>Atg	p.L114M		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	114								p.L114M(1)		endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						TCTATCCACAGGTTGTCTCCA	0.408000													9	26					1.12685e-05	1.37938e-05	0.004482	1	0
IFT88	8100	broad.mit.edu	37	13	21171206	21171206	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:21171206A>T	ENST00000382778.4	+	10	1687	c.569A>T	c.(568-570)cAg>cTg	p.Q190L	IFT88_ENST00000319980.6_Missense_Mutation_p.Q190L|IFT88_ENST00000351808.5_Missense_Mutation_p.Q181L|IFT88_ENST00000537103.1_Missense_Mutation_p.Q162L			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	190					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	p.Q190L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CTGGTGAGACAGCGAGAACAA	0.333000													9	23					0	0	0.006214	0	0
DOCK9	23348	broad.mit.edu	37	13	99462534	99462534	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:99462534C>A	ENST00000376460.1	-	47	5222	c.5142G>T	c.(5140-5142)atG>atT	p.M1714I	DOCK9_ENST00000339416.2_Missense_Mutation_p.M1715I|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1715	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.M1714I(1)|p.M1715I(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAAGGAGCTCCATCAGCACAT	0.522000													20	148					1.37657e-19	2.60485e-19	0.012319	1	0
OR2B3	442184	broad.mit.edu	37	6	29054162	29054162	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:29054162G>A	ENST00000377173.2	-	1	928	c.864C>T	c.(862-864)ctC>ctT	p.L288L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GGCTGTAGATGAGGGAGTTCA	0.403000													4	99					0	0	0.014758	0	0
OR2F2	135948	broad.mit.edu	37	7	143632387	143632387	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:143632387G>A	ENST00000408955.2	+	1	129	c.62G>A	c.(61-63)tGg>tAg	p.W21*		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W21*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TCCAGTGACTGGTGCACTCAG	0.433000													55	288					0	0	0.014410	0	0
PCDHB16	57717	broad.mit.edu	37	5	140563749	140563749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140563749C>A	ENST00000361016.2	+	1	2770	c.1615C>A	c.(1615-1617)Ccg>Acg	p.P539T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		539	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P539T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGCGGCTCCCCGGCTTTGAG	0.682000													9	99					2.74318e-10	4.17092e-10	0.006214	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5146295	5146295	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:5146295C>A	ENST00000274181.7	+	3	366	c.228C>A	c.(226-228)tcC>tcA	p.S76S	CTD-2297D10.1_ENST00000514848.1_RNA|ADAMTS16_ENST00000511368.1_Silent_p.S76S	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	76					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S76S(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTACGTGTCCCATGAAATCA	0.537000													21	68					3.01185e-09	4.3408e-09	0.021523	1	0
LRFN5	145581	broad.mit.edu	37	14	42356854	42356854	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:42356854T>A	ENST00000554171.1	+	5	3458	c.1026T>A	c.(1024-1026)ctT>ctA	p.L342L	LRFN5_ENST00000298119.4_Silent_p.L342L|LRFN5_ENST00000554120.1_Silent_p.L342L			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	342	Ig-like.					integral to membrane		p.L342L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACGGAACACTTGACATTCTTA	0.423000										HNSCC(30;0.082)			25	145					0	0	0.018920	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530092	80530092	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:80530092G>T	ENST00000295057.3	-	2	1509	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.L285M|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	285						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.L285M(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TCCAGCTGCAGGGACTGCAGG	0.592000										HNSCC(69;0.2)			25	57					1.55469e-16	2.81099e-16	0.018920	1	0
MYOD1	4654	broad.mit.edu	37	11	17743008	17743008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:17743008C>T	ENST00000250003.3	+	3	1131	c.916C>T	c.(916-918)Cag>Tag	p.Q306*		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	306					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	p.Q306*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CGCCGCCCCGCAGTGCCCTGC	0.726000													7	35					0	0	0.003080	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137492	32137492	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:32137492G>T	ENST00000312561.4	+	4	4017	c.3603G>T	c.(3601-3603)gaG>gaT	p.E1201D	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.E1201D(1)									CAGAGGAAGAGAAACAAAAAG	0.428000													12	124					0.00010058	0.000116953	0.013537	1	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406098	39406098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:39406098C>A	ENST00000334109.2	+	1	160	c.126C>A	c.(124-126)tgC>tgA	p.C42*		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	42	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.C42*(1)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCCTCCTGCTGTGTTTCCA	0.632000													11	25					2.23348e-06	2.8272e-06	0.028581	1	0
SNX25	83891	broad.mit.edu	37	4	186180179	186180179	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:186180179T>C	ENST00000504273.1	+	3	494	c.200T>C	c.(199-201)tTa>tCa	p.L67S	SNX25_ENST00000264694.8_Missense_Mutation_p.L67S			Q9H3E2	SNX25_HUMAN	sorting nexin 25	67	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.L67S(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GTGAGGACTTTACTCACTCAT	0.418000													19	94					0	0	0.016522	0	0
ASTN2	23245	broad.mit.edu	37	9	120176788	120176788	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:120176788G>T	ENST00000313400.4	-	1	529	c.429C>A	c.(427-429)ccC>ccA	p.P143P	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.P143P|ASTN2_ENST00000373996.3_Silent_p.P143P			O75129	ASTN2_HUMAN	astrotactin 2	143						integral to membrane		p.P143P(1)		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						GGGTGAAGAAGGGCAGCTCGG	0.711000													4	60					3.59834e-05	4.29159e-05	0.021553	1	0
OR2T12	127064	broad.mit.edu	37	1	248458403	248458403	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248458403C>G	ENST00000317996.1	-	1	477	c.478G>C	c.(478-480)Gct>Cct	p.A160P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A160P(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CTCAGGGTAGCAACAGCCTGC	0.587000													9	108					0	0	0.008291	0	0
OR7E47P	26628	broad.mit.edu	37	12	52501463	52501463	+	RNA	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:52501463G>C	ENST00000546390.1	+	0	862																											ACATGCTCCTGAGTGTGATGG	0.498000													2	5					0	0	0.004672	0	0
COL24A1	255631	broad.mit.edu	37	1	86497581	86497581	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:86497581G>T	ENST00000370571.2	-	14	2395	c.2029C>A	c.(2029-2031)Ccg>Acg	p.P677T	COL24A1_ENST00000436319.1_Missense_Mutation_p.P677T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	677	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent	p.P677T(1)|p.P676fs*5(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGAAACCCCGGAGGACCAGTG	0.328000													10	29					5.16669e-11	8.04394e-11	0.010729	1	0
RNASE10	338879	broad.mit.edu	37	14	20978889	20978889	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:20978889G>T	ENST00000430083.1	+	2	747	c.343G>T	c.(343-345)Ggt>Tgt	p.G115C	RNASE10_ENST00000328444.5_Missense_Mutation_p.G87C			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	87						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.G87F(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		TCCCATCCTCGGTGAAGATGA	0.517000													11	89					1.58986e-06	2.02431e-06	0.008291	1	0
KCNE1	3753	broad.mit.edu	37	21	35821667	35821667	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:35821667T>C	ENST00000337385.3	-	3	641	c.266A>G	c.(265-267)gAg>gGg	p.E89G	KCNE1_ENST00000399289.3_Missense_Mutation_p.E89G|KCNE1_ENST00000399284.1_Missense_Mutation_p.E89G|KCNE1_ENST00000399286.2_Missense_Mutation_p.E89G|KCNE1_ENST00000416357.2_Missense_Mutation_p.E89G|KCNE1_ENST00000432085.1_Missense_Mutation_p.E89G	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	89					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	p.E89G(1)		large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGTCCTTCTCTTGCCAGGC	0.542000													20	161					0	0	0.010504	0	0
CSMD3	114788	broad.mit.edu	37	8	113697661	113697661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113697661C>A	ENST00000297405.5	-	15	2700	c.2456G>T	c.(2455-2457)gGa>gTa	p.G819V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G715V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G819V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G779V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	819	CUB 4.					integral to membrane|plasma membrane		p.G779V(1)|p.G819V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAGCCACGTCCTGACATTGA	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	67					0.00198382	0.00215994	0.029380	1	0
DSCAML1	57453	broad.mit.edu	37	11	117335693	117335693	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:117335693G>C	ENST00000321322.6	-	17	3411	c.3410C>G	c.(3409-3411)tCt>tGt	p.S1137C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S867C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1077	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.S1137C(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTCGCTGGAAGAGGGCCCCGT	0.632000													12	83					0	0	0.013537	0	0
GRM1	2911	broad.mit.edu	37	6	146755806	146755806	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:146755806C>A	ENST00000361719.2	+	9	3929	c.3459C>A	c.(3457-3459)gaC>gaA	p.D1153E	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.D1153E|GRM1_ENST00000392299.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1153	Ser-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D1153E(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTTTCCGCGACTCGGTGGCCT	0.652000													24	62					1.16021e-09	1.70619e-09	0.034045	1	0
COL4A2	1284	broad.mit.edu	37	13	111092175	111092175	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:111092175C>T	ENST00000360467.5	+	16	1258	c.952C>T	c.(952-954)Cag>Tag	p.Q318*		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	318	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.Q318*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ATCACCAGGACAGAAGGTAAG	0.458000													41	112					0	0	0.030466	0	0
REG3A	5068	broad.mit.edu	37	2	79384787	79384787	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:79384787C>A	ENST00000393878.1	-	4	625	c.371G>T	c.(370-372)aGc>aTc	p.S124I	REG3A_ENST00000409839.3_Missense_Mutation_p.S124I|REG3A_ENST00000305165.2_Missense_Mutation_p.S124I	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	124	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S124I(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						CACATCACTGCTACTCCACTC	0.547000													23	135					7.92952e-12	1.27107e-11	0.021523	1	0
SEC14L5	9717	broad.mit.edu	37	16	5055988	5055988	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:5055988G>C	ENST00000251170.7	+	12	1556	c.1376G>C	c.(1375-1377)gGa>gCa	p.G459A		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	459	CRAL-TRIO.					integral to membrane|intracellular	transporter activity	p.G459A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAGGGACCCGGAGGCCTTGTG	0.542000													6	37					0	0	0.021553	0	0
GOLGA6C	653641	broad.mit.edu	37	15	75562442	75562442	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:75562442G>A	ENST00000300576.5	+	18	1984	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M		NM_001164404.1	NP_001157876.1	A6NDK9	GOG6C_HUMAN	golgin A6 family, member C	662								p.V662M(1)		ovary(1)	1						GGACAACAACGTGGAGCCTGC	0.632000													10	68					0	0	0.008291	0	0
CEP89	84902	broad.mit.edu	37	19	33392156	33392156	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:33392156G>A	ENST00000305768.4	-	15	1816	c.1728C>T	c.(1726-1728)atC>atT	p.I576I		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	576						centrosome|spindle pole		p.I576I(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CAAACCTATTGATTTTCTGTG	0.413000													30	204					0	0	0.030593	0	0
DUOX2	50506	broad.mit.edu	37	15	45389466	45389466	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:45389466T>A	ENST00000389039.6	-	29	4202	c.3817A>T	c.(3817-3819)Agc>Tgc	p.S1273C	DUOX2_ENST00000603300.1_Missense_Mutation_p.S1273C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1273	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.S1273C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTCACCACGCTGATCTCCACC	0.582000													17	126					0	0	0.006122	0	0
CD33	945	broad.mit.edu	37	19	51729106	51729106	+	Missense_Mutation	SNP	G	G	T	rs76522752		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:51729106G>T	ENST00000436584.2	+	2	140	c.85G>T	c.(85-87)Ggc>Tgc	p.G29C	CD33_ENST00000421133.2_Missense_Mutation_p.G29C|CD33_ENST00000262262.4_Missense_Mutation_p.G156C|CD33_ENST00000391796.3_Missense_Mutation_p.G156C			P20138	CD33_HUMAN	CD33 molecule	156	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.G156C(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCTAGAACCCGGCCACTCCAA	0.607000													37	92					6.23363e-37	1.30916e-36	0.014410	1	0
TMEM8B	51754	broad.mit.edu	37	9	35853628	35853628	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:35853628G>T	ENST00000377988.2	+	13	2498	c.1210G>T	c.(1210-1212)Gac>Tac	p.D404Y	TMEM8B_ENST00000377991.4_Missense_Mutation_p.D404Y	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	404					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding	p.D404Y(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						GGAGACCCGGGACAACTACTT	0.582000													26	228					5.61819e-17	1.02868e-16	0.027356	1	0
APP	351	broad.mit.edu	37	21	27462312	27462312	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:27462312C>A	ENST00000358918.3	-	3	501	c.302G>T	c.(301-303)gGc>gTc	p.G101V	APP_ENST00000448388.2_Missense_Mutation_p.G66V|APP_ENST00000440126.3_Missense_Mutation_p.G96V|APP_ENST00000357903.3_Missense_Mutation_p.G101V|APP_ENST00000354192.3_Missense_Mutation_p.G45V|APP_ENST00000439274.2_Missense_Mutation_p.G45V|APP_ENST00000348990.5_Missense_Mutation_p.G101V|APP_ENST00000359726.3_Missense_Mutation_p.G101V|APP_ENST00000346798.3_Missense_Mutation_p.G101V|APP_ENST00000474136.1_5'UTR	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	101	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity	p.G101V(1)		endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTGCTTGCGGCCCCGCTTGCA	0.577000													13	97					0.0135373	0.0142961	0.013537	1	0
LRP1B	53353	broad.mit.edu	37	2	142004857	142004857	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:142004857G>T	ENST00000389484.3	-	5	1501	c.530C>A	c.(529-531)aCt>aAt	p.T177N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	177	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T177N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAACTGCAAGTGTAGGATCC	0.398000										TSP Lung(27;0.18)			17	150					4.7546e-09	6.81476e-09	0.028581	1	0
DDB1	1642	broad.mit.edu	37	11	61091481	61091481	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:61091481G>C	ENST00000301764.7	-	7	1288	c.891C>G	c.(889-891)ctC>ctG	p.L297L	DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	297	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	p.L297L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GGAGATCCTTGAGAGTGACGG	0.502000								Nucleotide excision repair (NER)					8	155					0	0	0.003080	0	0
ALG10	84920	broad.mit.edu	37	12	34177036	34177036	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:34177036G>C	ENST00000266483.2	+	2	630	c.311G>C	c.(310-312)aGt>aCt	p.S104T	ALG10_ENST00000538927.1_Missense_Mutation_p.S104T|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	104					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.S104T(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CTTCTCTTCAGTGTTGGCAAC	0.373000													35	292					0	0	0.017118	0	0
LRRC7	57554	broad.mit.edu	37	1	70504169	70504169	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:70504169A>T	ENST00000310961.5	+	22	2981	c.2563A>T	c.(2563-2565)Agt>Tgt	p.S855C	LRRC7_ENST00000035383.5_Missense_Mutation_p.S850C|LRRC7_ENST00000415775.2_Missense_Mutation_p.S134C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	850						centrosome|focal adhesion|nucleolus	protein binding	p.S850C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAGAACCCCTAGTCCGTTTGA	0.483000													26	79					0	0	0.021523	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67243037	67243037	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:67243037G>T	ENST00000282670.2	+	5	568	c.440G>T	c.(439-441)aGa>aTa	p.R147I		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	147								p.R147I(1)		large_intestine(2)|lung(10)|skin(1)	13						ATTGGAAGCAGATGCCTCTGG	0.393000													13	95					9.05144e-12	1.44734e-11	0.016723	1	0
PCDHA12	56137	broad.mit.edu	37	5	140255544	140255544	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140255544G>T	ENST00000398631.2	+	1	487	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.G163C(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGATATCGGCGTAAACTC	0.403000													23	111					2.89027e-11	4.52148e-11	0.014323	1	0
SDS	10993	broad.mit.edu	37	12	113836547	113836547	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:113836547T>G	ENST00000257549.4	-	4	420	c.298A>C	c.(298-300)Aag>Cag	p.K100Q		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	100					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.K100Q(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTTCATTCTTGAGGCGCTCA	0.652000													9	113					0	0	0.006214	0	0
LCTL	197021	broad.mit.edu	37	15	66855910	66855910	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:66855910G>A	ENST00000341509.5	-	4	555	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_5'UTR	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	142					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L142F(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGCTCAGAAGGGCATCGATA	0.522000													9	55					0	0	0.008291	0	0
OR2T12	127064	broad.mit.edu	37	1	248458652	248458652	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248458652G>T	ENST00000317996.1	-	1	228	c.229C>A	c.(229-231)Ccc>Acc	p.P77T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P77T(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCATTTTGGGCACAGTGGTG	0.567000													14	97					9.95505e-16	1.77525e-15	0.014323	1	0
PREPL	9581	broad.mit.edu	37	2	44571725	44571725	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:44571725C>A	ENST00000541738.1	-	3	462	c.75_splice	c.e3-1	p.V26_splice	PREPL_ENST00000540817.1_Intron|PREPL_ENST00000410081.1_Splice_Site_p.V115_splice|PREPL_ENST00000378511.3_Splice_Site_p.V115_splice|PREPL_ENST00000409936.1_Splice_Site_p.V115_splice|PREPL_ENST00000409957.1_Splice_Site_p.V26_splice|PREPL_ENST00000409411.1_Splice_Site_p.V26_splice|PREPL_ENST00000409272.1_Splice_Site_p.V115_splice|PREPL_ENST00000378520.3_Splice_Site_p.V115_splice|PREPL_ENST00000260648.6_Splice_Site_p.V115_splice	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	115					proteolysis	cytosol	serine-type endopeptidase activity	p.V115F(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCATGTTTAACCTGACAAAAG	0.303000													4	24					1.024e-07	1.38091e-07	0.014758	1	0
PDZRN3	23024	broad.mit.edu	37	3	73433919	73433919	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:73433919G>T	ENST00000263666.4	-	10	1912	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M	PDZRN3_ENST00000479530.1_Missense_Mutation_p.L317M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L322M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.L257M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.L257M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	600							ubiquitin-protein ligase activity|zinc ion binding	p.L600M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGCCCCGCCAGCGGGTTGGAG	0.647000													7	101					0.00448238	0.0048118	0.004482	1	0
ITGA4	3676	broad.mit.edu	37	2	182346387	182346387	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:182346387C>A	ENST00000397033.2	+	7	1247	c.817C>A	c.(817-819)Cct>Act	p.P273T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	273					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P273N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CGGAGGAGCTCCTCAACATGA	0.373000													3	22					2.56e-06	3.22168e-06	0.009096	1	0
ITIH1	3697	broad.mit.edu	37	3	52817001	52817001	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:52817001G>T	ENST00000273283.2	+	9	983	c.959G>T	c.(958-960)gGg>gTg	p.G320V	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000542827.1_Missense_Mutation_p.G320V|ITIH1_ENST00000537050.1_Missense_Mutation_p.G32V|ITIH1_ENST00000540715.1_Missense_Mutation_p.G178V	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	320	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.G320V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AAAATTCTGGGGGACATGCAG	0.552000													13	197					1.52009e-12	2.50459e-12	0.024245	1	0
PHF21B	112885	broad.mit.edu	37	22	45309812	45309812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:45309812G>A	ENST00000313237.5	-	5	871	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	PHF21B_ENST00000403565.1_Nonsense_Mutation_p.Q37*|PHF21B_ENST00000404079.2_Nonsense_Mutation_p.Q187*|PHF21B_ENST00000447824.3_Nonsense_Mutation_p.Q187*|PHF21B_ENST00000396103.3_Nonsense_Mutation_p.Q199*	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	241							zinc ion binding	p.Q241*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTCTCGGGCTGCGTCTGCACT	0.632000													18	102					0	0	0.010504	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256217	140256217	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140256217G>T	ENST00000398631.2	+	1	1160	c.1160G>T	c.(1159-1161)tGc>tTc	p.C387F	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.C387F(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTCATCTGCTCACTGACA	0.572000													43	200					5.20006e-24	1.03523e-23	0.011902	1	0
ANKRD27	84079	broad.mit.edu	37	19	33093033	33093033	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:33093033C>A	ENST00000306065.4	-	26	2814		c.e26-1			NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)						early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.?(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TTTTTGAATTCTGCAATTTGA	0.348000													50	208					1.86633e-21	3.61585e-21	0.014410	1	0
ZNF558	148156	broad.mit.edu	37	19	8922190	8922190	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:8922190C>A	ENST00000601372.1	-	10	1687	c.976G>T	c.(976-978)Ggg>Tgg	p.G326W	ZNF558_ENST00000444186.2_Missense_Mutation_p.G255W|ZNF558_ENST00000301475.1_Missense_Mutation_p.G326W			Q96NG5	ZN558_HUMAN	zinc finger protein 558	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G326L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AAGGATTTCCCACACTCGTTA	0.433000													8	67					0.000157383	0.0001809	0.003080	1	0
DHX57	90957	broad.mit.edu	37	2	39075411	39075411	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:39075411C>A	ENST00000295373.6	-	10	2290	c.2164_splice	c.e10+1	p.G722_splice		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	722							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.G722C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTATTCACCTGGTATAGTA	0.308000													12	56					4.36969e-10	6.55958e-10	0.016723	1	0
SLC30A1	7779	broad.mit.edu	37	1	211751606	211751606	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:211751606G>A	ENST00000367001.4	-	1	478	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	117					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCGACCCCAAGGACCACCAGC	0.662000													3	9					0	0	0.014758	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1143871	1143871	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:1143871G>T	ENST00000328449.5	-	4	662	c.389C>A	c.(388-390)tCc>tAc	p.S130Y		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	130	C1q.					collagen		p.S130Y(1)		lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				GAAGTGGTCGGAGCTGTGCAG	0.756000													13	27					2.27111e-07	3.00045e-07	0.013537	1	0
GRIN2B	2904	broad.mit.edu	37	12	13719990	13719990	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:13719990C>A	ENST00000279593.3	-	12	2776	c.2567G>T	c.(2566-2568)gGc>gTc	p.G856V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	856					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G856V(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCCAGGCTTGCCAGAACAGAC	0.488000													15	37					0.000219431	0.000251775	0.020292	1	0
HNRNPC	3183	broad.mit.edu	37	14	21679518	21679518	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:21679518T>A	ENST00000336053.6	-	7	1077	c.845A>T	c.(844-846)cAg>cTg	p.Q282L	HNRNPC_ENST00000554455.1_Intron|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000449098.1_Intron|HNRNPC_ENST00000555309.1_Intron|HNRNPC_ENST00000320084.7_Intron|HNRNPC_ENST00000430246.2_Intron|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000555914.1_Intron|HNRNPC_ENST00000556897.1_Intron|HNRNPC_ENST00000420743.2_Intron|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000557201.1_Intron|HNRNPC_ENST00000553300.1_Intron|HNRNPC_ENST00000553753.1_Missense_Mutation_p.Q282L|HNRNPC_ENST00000554969.1_Intron|HNRNPC_ENST00000555883.1_Intron			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	0	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATGTGTCCCTGAGCCCCCCT	0.507000													8	115					0	0	0.006214	0	0
BTD	686	broad.mit.edu	37	3	15677002	15677002	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:15677002C>T	ENST00000383778.4	+	2	414	c.56C>T	c.(55-57)gCc>gTc	p.A19V	BTD_ENST00000449107.1_Missense_Mutation_p.A41V|BTD_ENST00000303498.5_Missense_Mutation_p.A39V|BTD_ENST00000437172.1_Missense_Mutation_p.A41V|BTD_ENST00000482824.1_3'UTR			P43251	BTD_HUMAN	biotinidase	39					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	p.A39V(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACGTGGTTGCCCTGGGAGCC	0.532000													34	191					0	0	0.013726	0	0
ZNF385D	79750	broad.mit.edu	37	3	21467159	21467159	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:21467159G>C	ENST00000281523.2	-	6	1195	c.677C>G	c.(676-678)aCt>aGt	p.T226S		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	226						nucleus	nucleic acid binding|zinc ion binding	p.T226S(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTGTGCTTAGTACCTGTCAG	0.448000													3	29					0	0	0.004672	0	0
GTF3C5	9328	broad.mit.edu	37	9	135933328	135933328	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:135933328T>C	ENST00000372097.5	+	11	1844	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	GTF3C5_ENST00000342018.8_Silent_p.S445S|GTF3C5_ENST00000372099.6_Silent_p.S498S|GTF3C5_ENST00000372108.5_Silent_p.S514S	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	507	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.S507S(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CCGACGGCAGTGAAAACGAAA	0.587000													10	215					0	0	0.010729	0	0
OSBPL8	114882	broad.mit.edu	37	12	76752583	76752583	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:76752583G>A	ENST00000261183.3	-	22	2816	c.2337C>T	c.(2335-2337)gtC>gtT	p.V779V	OSBPL8_ENST00000393249.2_Silent_p.V737V|OSBPL8_ENST00000393250.4_Silent_p.V737V	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	779					lipid transport		lipid binding	p.V779V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCATTTTGGGGACGCTAACCT	0.388000													9	75					0	0	0.010729	0	0
TM6SF2	53345	broad.mit.edu	37	19	19377337	19377337	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:19377337G>A	ENST00000389363.4	-	9	958	c.886C>T	c.(886-888)Cca>Tca	p.P296S	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	296						integral to membrane		p.P296S(1)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCCCAGTCTGGAAGCCAGGAG	0.577000													16	117					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179615786	179615786	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179615786C>G	ENST00000360870.5	-	46	11563	c.11341G>C	c.(11341-11343)Gat>Cat	p.D3781H	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9618							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTTGATCCATTTGATTA	0.358000													4	103					0	0	0.021553	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702836	40702836	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:40702836C>A	ENST00000356699.5	+	4	522	c.493C>A	c.(493-495)Ctg>Atg	p.L165M	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3									p.L165L(4)|p.L165M(2)									TCCTCAGGATCTGGCCTCCAC	0.587000													67	674					4.18771e-30	8.57327e-30	0.014410	1	0
TF	7018	broad.mit.edu	37	3	133485215	133485215	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:133485215G>C	ENST00000402696.3	+	12	1909	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	TF_ENST00000264998.3_Missense_Mutation_p.R348T	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	475	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding	p.R475T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GCAGTTGGCAGAACCGCTGGC	0.507000													92	187					0	0	0.014410	0	0
CACNA1S	779	broad.mit.edu	37	1	201039427	201039427	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:201039427G>C	ENST00000362061.3	-	17	2559	c.2333C>G	c.(2332-2334)tCc>tGc	p.S778C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S778C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	778					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.S778C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GATGAAGAAGGAGCTGGCTTC	0.592000													37	144					0	0	0.030466	0	0
PTGDR	5729	broad.mit.edu	37	14	52735269	52735269	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:52735269C>A	ENST00000306051.2	+	1	839	c.737C>A	c.(736-738)cCg>cAg	p.P246Q	PTGDR_ENST00000553372.1_Missense_Mutation_p.P246Q	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	246						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.P246Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGTGCCGAGCCGCGCGCGGAC	0.682000													15	151					0.000308642	0.000349812	0.024245	1	0
PAX1	5075	broad.mit.edu	37	20	21687445	21687445	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:21687445G>T	ENST00000398485.2	+	2	710	c.656G>T	c.(655-657)cGc>cTc	p.R219L	PAX1_ENST00000444366.2_Missense_Mutation_p.R195L|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	219	Paired.				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R125L(1)|p.R219L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TCCATCAGCCGCATCCTGCGC	0.632000													9	88					4.68919e-08	6.43711e-08	0.008291	1	0
TATDN1	83940	broad.mit.edu	37	8	125535238	125535238	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:125535238C>A	ENST00000276692.6	-	2	65	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C	TATDN1_ENST00000605953.1_Missense_Mutation_p.G10C|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000517678.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	10						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.G10C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGTTGATACCAATATCTGTA	0.323000													19	112					5.35267e-07	7.02166e-07	0.007413	1	0
ZNF598	90850	broad.mit.edu	37	16	2049685	2049685	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:2049685G>A	ENST00000563630.1	-	9	1942	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	ZNF598_ENST00000431526.1_Missense_Mutation_p.A622V|ZNF598_ENST00000562103.1_Missense_Mutation_p.A567V			Q86UK7	ZN598_HUMAN	zinc finger protein 598	622						intracellular	zinc ion binding	p.A622V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGCTCTGCTGGCAGGAGCTTC	0.672000													6	23					0	0	0.021553	0	0
TTN	7273	broad.mit.edu	37	2	179567309	179567309	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179567309G>A	ENST00000589042.1	-	107	30529	c.30305C>T	c.(30304-30306)tCc>tTc	p.S10102F	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9785F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8858F|TTN-AS1_ENST00000431752.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9785	Glu-rich.|Poly-Pro.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S8858F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCATCAAAGGACACTTCACA	0.443000													22	143					0	0	0.010504	0	0
TPTE	7179	broad.mit.edu	37	21	10933880	10933880	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:10933880G>T	ENST00000298232.7	-	16	1312	c.945C>A	c.(943-945)atC>atA	p.I315I	TPTE_ENST00000342420.5_Silent_p.I295I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.I333I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	333	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.I333I(1)|p.I315I(1)		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)		GAATCGCTACGATGTTTTCAA	0.313000													48	344					1.38909e-20	2.64783e-20	0.014410	1	0
RLN1	6013	broad.mit.edu	37	9	5339540	5339540	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:5339540C>A	ENST00000223858.4	-	1	333	c.207G>T	c.(205-207)gtG>gtT	p.V69V	RLN1_ENST00000223862.1_Silent_p.V69V			P04808	REL1_HUMAN	relaxin 1	69					female pregnancy|signal transduction	extracellular region	hormone activity	p.V69V(1)		large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TCTCACCTGCCACTGGTCTAG	0.637000													6	24					3.59834e-05	4.29159e-05	0.021553	1	0
HELZ	9931	broad.mit.edu	37	17	65146102	65146102	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:65146102C>A	ENST00000358691.5	-	19	2523		c.e19-1		HELZ_ENST00000580168.1_Splice_Site	NM_014877.3	NP_055692.2			helicase with zinc finger									p.?(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTAAAAAACCCTAGAAAATGC	0.398000													39	148					6.2361e-21	1.19395e-20	0.030466	1	0
ENOX1	55068	broad.mit.edu	37	13	43935509	43935509	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:43935509G>T	ENST00000261488.6	-	6	865	c.288C>A	c.(286-288)ggC>ggA	p.G96G	ENOX1_ENST00000412891.1_Silent_p.G96G	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	96	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.G96G(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CCAGTCCAAGGCCTGGTATCA	0.443000													17	93					2.35188e-11	3.71952e-11	0.006122	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34020750	34020750	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:34020750G>C	ENST00000382065.3	-	6	1604	c.898C>G	c.(898-900)Ctc>Gtc	p.L300V	C1QTNF3_ENST00000231338.7_Missense_Mutation_p.L227V	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	227						collagen		p.L300V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					TCCCCATGGAGAGCGCCATTG	0.478000													7	224					0	0	0.029380	0	0
TPP2	7174	broad.mit.edu	37	13	103301784	103301784	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:103301784G>T	ENST00000376052.3	+	23	2916	c.2900G>T	c.(2899-2901)tGc>tTc	p.C967F	TPP2_ENST00000376065.4_Missense_Mutation_p.C967F			P29144	TPP2_HUMAN	tripeptidyl peptidase II	967					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.C967F(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCTGGATGCTATCTTGCA	0.328000													5	30					0.000602214	0.000673155	0.014758	1	0
CELA2A	63036	broad.mit.edu	37	1	15788109	15788109	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:15788109C>A	ENST00000359621.4	+	3	208	c.183C>A	c.(181-183)tcC>tcA	p.S61S		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	61	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.S61S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GCGGAGGGTCCCTGATAGCCA	0.592000													14	105					1.99824e-07	2.65072e-07	0.033300	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79057034	79057034	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:79057034C>A	ENST00000388820.4	-	20	4492	c.4282G>T	c.(4282-4284)Ggc>Tgc	p.G1428C		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1428	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G1428C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GCACCCAGGCCACAGGTGGTA	0.716000													4	20					0.0215528	0.0223612	0.021553	1	0
GRID2	2895	broad.mit.edu	37	4	94344041	94344041	+	Nonsense_Mutation	SNP	C	C	A	rs140894316	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:94344041C>A	ENST00000282020.4	+	10	1725	c.1467C>A	c.(1465-1467)taC>taA	p.Y489*	GRID2_ENST00000510992.1_Nonsense_Mutation_p.Y394*	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	489					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.Y489*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACGAAATTTACGTAGCACCGG	0.398000													24	50					1.17739e-12	1.94487e-12	0.027356	1	0
NALCN	259232	broad.mit.edu	37	13	101714425	101714425	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:101714425C>A	ENST00000251127.6	-	41	4731	c.4650G>T	c.(4648-4650)ctG>ctT	p.L1550L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1550						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.L1550L(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGTTCCTCCAGCTGCAAGC	0.562000													11	60					1.58986e-06	2.02431e-06	0.008291	1	0
TMEM87B	84910	broad.mit.edu	37	2	112849310	112849310	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:112849310G>T	ENST00000283206.4	+	11	1423	c.1054G>T	c.(1054-1056)Gtt>Ttt	p.V352F	TMEM87B_ENST00000463427.1_3'UTR	NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	352						integral to membrane		p.V352F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TTTAGCTGTTGTTCTTGATGA	0.313000													11	54					6.40141e-05	7.53789e-05	0.010729	1	0
BRAF	673	broad.mit.edu	37	7	140534575	140534575	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:140534575C>A	ENST00000288602.6	-	3	398	c.338G>T	c.(337-339)aGc>aTc	p.S113I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	113					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.S113I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGATGCAGAGCTAGAAACAGA	0.428000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				13	66					0.00010058	0.000116953	0.013537	1	0
COL13A1	1305	broad.mit.edu	37	10	71665548	71665548	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:71665548C>A	ENST00000356340.3	+	16	1457	c.921C>A	c.(919-921)gaC>gaA	p.D307E	COL13A1_ENST00000398972.3_Missense_Mutation_p.D307E|COL13A1_ENST00000522165.1_Missense_Mutation_p.D288E|COL13A1_ENST00000520133.1_Missense_Mutation_p.D256E|COL13A1_ENST00000398974.3_Missense_Mutation_p.D295E|COL13A1_ENST00000517713.1_Missense_Mutation_p.D285E|COL13A1_ENST00000398971.3_Missense_Mutation_p.D307E|COL13A1_ENST00000398969.3_Missense_Mutation_p.D250E|COL13A1_ENST00000354547.3_Missense_Mutation_p.D285E|COL13A1_ENST00000398964.3_Missense_Mutation_p.D278E|COL13A1_ENST00000398966.3_Missense_Mutation_p.D285E|COL13A1_ENST00000398968.3_Missense_Mutation_p.D288E|COL13A1_ENST00000398978.3_Missense_Mutation_p.D307E|COL13A1_ENST00000357811.3_Missense_Mutation_p.D285E|COL13A1_ENST00000398973.3_Missense_Mutation_p.D307E|COL13A1_ENST00000520267.1_Missense_Mutation_p.D250E			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	307	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	p.D307E(1)|p.D290E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CCCAGGGAGACCCAGGGATCC	0.547000													9	37					5.16669e-11	8.04394e-11	0.010729	1	0
MDH1B	130752	broad.mit.edu	37	2	207622051	207622051	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:207622051C>G	ENST00000374412.3	-	3	455	c.180G>C	c.(178-180)aaG>aaC	p.K60N	MDH1B_ENST00000454776.2_Missense_Mutation_p.K60N|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000392214.2_Missense_Mutation_p.K60N	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	60					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	p.K60N(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TAGGGGAATTCTTGTGACTCC	0.398000													4	78					0	0	0.009096	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367452	125367452	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:125367452G>T	ENST00000431078.1	+	12	2192	c.1828G>T	c.(1828-1830)Ggc>Tgc	p.G610C		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	610	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G610C(1)		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)		CGACTCAGATGGCAGCGGCCC	0.542000													11	87					5.50884e-06	6.84655e-06	0.013537	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963101	88963101	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:88963101G>T	ENST00000333190.4	+	4	1414	c.805G>T	c.(805-807)Gca>Tca	p.A269S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	269						intracellular	zinc ion binding	p.A269S(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTGCAGGTTTGCAAATAAAGA	0.358000										HNSCC(36;0.09)			5	37					0.000157383	0.0001809	0.003080	1	0
NDST3	9348	broad.mit.edu	37	4	119064718	119064718	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:119064718C>G	ENST00000296499.5	+	6	1821	c.1418C>G	c.(1417-1419)cCa>cGa	p.P473R	NDST3_ENST00000433996.2_Missense_Mutation_p.P392R	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	473	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.P473R(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CAGGTTCTCCCAAGACAAACC	0.378000													7	76					0	0	0.029380	0	0
FLG	2312	broad.mit.edu	37	1	152286112	152286112	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152286112G>C	ENST00000368799.1	-	3	1285	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	417	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S417C(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACCGCTAGACCCCCGGTG	0.597000									Ichthyosis				114	749					0	0	0.014410	0	0
USP48	84196	broad.mit.edu	37	1	22056275	22056275	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:22056275G>C	ENST00000308271.9	-	10	1870	c.1222C>G	c.(1222-1224)Cat>Gat	p.H408D	USP48_ENST00000529637.1_Missense_Mutation_p.H407D|USP48_ENST00000421625.2_Missense_Mutation_p.H408D|USP48_ENST00000400301.1_Missense_Mutation_p.H408D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	408					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.H408D(1)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CGAGAGCAATGAGTTCCTTTG	0.398000													6	198					0	0	0.029380	0	0
OVCH1	341350	broad.mit.edu	37	12	29648245	29648245	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:29648245G>T	ENST00000318184.5	-	4	426	c.427C>A	c.(427-429)Ctg>Atg	p.L143M		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	143	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L143M(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTTAGATACAGCAGTGCAATA	0.338000													24	190					1.50538e-07	2.00924e-07	0.030593	1	0
GART	2618	broad.mit.edu	37	21	34907023	34907023	+	Missense_Mutation	SNP	C	C	A	rs145820555	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:34907023C>A	ENST00000381831.3	-	4	541	c.278G>T	c.(277-279)tGc>tTc	p.C93F	GART_ENST00000381839.3_Missense_Mutation_p.C93F|GART_ENST00000361093.5_Missense_Mutation_p.C93F|GART_ENST00000381815.4_Missense_Mutation_p.C93F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	93					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.C93F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGGCCAAAGCATTGCACTCC	0.502000													7	86					0.00307968	0.003328	0.003080	1	0
PLXNC1	10154	broad.mit.edu	37	12	94642069	94642069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:94642069G>A	ENST00000258526.4	+	14	2908	c.2659G>A	c.(2659-2661)Ggg>Agg	p.G887R		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	887					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	p.G887R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGGGGAAAATGGGCAATTAAA	0.333000													32	69					0	0	0.037714	0	0
TPP2	7174	broad.mit.edu	37	13	103301782	103301782	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:103301782A>T	ENST00000376052.3	+	23	2914	c.2898A>T	c.(2896-2898)ggA>ggT	p.G966G	TPP2_ENST00000376065.4_Silent_p.G966G			P29144	TPP2_HUMAN	tripeptidyl peptidase II	966					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.G966G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGGACCTGGATGCTATCTTG	0.328000													5	31					0	0	0.014758	0	0
USP40	55230	broad.mit.edu	37	2	234463045	234463045	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:234463045C>T	ENST00000251722.6	-	6	791	c.674G>A	c.(673-675)aGg>aAg	p.R225K	USP40_ENST00000427112.2_Missense_Mutation_p.R225K|USP40_ENST00000450966.1_Missense_Mutation_p.R237K			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	225					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.R237K(2)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTTAACCAGCCTGTCACAAGT	0.413000													10	47					0	0	0.006214	0	0
TRIM56	81844	broad.mit.edu	37	7	100731029	100731029	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:100731029G>T	ENST00000306085.6	+	3	733	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	146					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.V146L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CACCCACCGCGTGGTGGACCT	0.736000													7	27					2.17888e-05	2.63983e-05	0.006214	1	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933490	209933490	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:209933490C>A	ENST00000367024.1	+	3	622	c.106C>A	c.(106-108)Cgt>Agt	p.R36S	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R36S|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R36S|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R36S|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R36S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	36						integral to membrane	protein binding	p.R36S(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CCGCCGCTGCCGTCCCAATGT	0.637000													8	45					0.00621372	0.00664295	0.006214	1	0
BIRC6	57448	broad.mit.edu	37	2	32602748	32602748	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:32602748C>T	ENST00000421745.2	+	2	552	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	BIRC6-AS1_ENST00000455572.1_RNA	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	140					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.L140F(1)|p.L112F(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGGAAGGACCTTAATGGAAT	0.403000													28	54					0	0	0.030593	0	0
DCPS	28960	broad.mit.edu	37	11	126176481	126176481	+	Missense_Mutation	SNP	G	G	T	rs11557735		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:126176481G>T	ENST00000263579.4	+	2	547	c.218G>T	c.(217-219)gGg>gTg	p.G73V		NM_014026.3	NP_054745.1	Q96C86	DCPS_HUMAN	decapping enzyme, scavenger	73			G -> E (in dbSNP:rs11557735).		deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding	p.G73V(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GAGGCCTCTGGGGATGGGGAT	0.592000													3	32					3.59834e-05	4.29159e-05	0.021553	1	0
SLC9A3	6550	broad.mit.edu	37	5	476405	476405	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:476405C>T	ENST00000264938.3	-	13	1988	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.R651H|CTD-2228K2.7_ENST00000606319.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	660	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.R660H(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGACTCCAGGCGCTTCCGCAT	0.602000													10	163					0	0	0.010729	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065167	62065167	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:62065167C>T	ENST00000354587.3	-	8	1289	c.1113G>A	c.(1111-1113)atG>atA	p.M371I	KCNQ2_ENST00000359125.2_Missense_Mutation_p.M371I|KCNQ2_ENST00000482957.1_5'UTR|KCNQ2_ENST00000430658.1_Missense_Mutation_p.M371I|KCNQ2_ENST00000357249.2_Missense_Mutation_p.M371I|KCNQ2_ENST00000370222.3_Missense_Mutation_p.M371I|KCNQ2_ENST00000344425.5_Missense_Mutation_p.M371I|KCNQ2_ENST00000370221.1_Missense_Mutation_p.M371I|KCNQ2_ENST00000344462.3_Missense_Mutation_p.M371I|KCNQ2_ENST00000359689.1_Missense_Mutation_p.M371I|KCNQ2_ENST00000370224.1_Missense_Mutation_p.M371I|KCNQ2_ENST00000370226.1_Missense_Mutation_p.M371I|KCNQ2_ENST00000360480.3_Missense_Mutation_p.M371I			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	371					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.M371I(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGTACCTGTACATGGGCACGG	0.517000													54	121					0	0	0.014410	0	0
C8B	732	broad.mit.edu	37	1	57431535	57431535	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:57431535G>T	ENST00000371237.4	-	1	153	c.87C>A	c.(85-87)ggC>ggA	p.G29G	RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000543257.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	29					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.G29G(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACCTGGAGCCAGGCAAAC	0.493000													4	95					0.00024832	0.000282924	0.009096	1	0
SSPO	23145	broad.mit.edu	37	7	149483252	149483252	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:149483252G>T	ENST00000378016.2	+	0	3320							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity	p.R357L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTGCGTCGTGCTGGCCTC	0.652000													9	11					2.80697e-09	4.05002e-09	0.010729	1	0
ZNF273	10793	broad.mit.edu	37	7	64388706	64388706	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:64388706A>T	ENST00000476120.1	+	4	1071	c.1000A>T	c.(1000-1002)Act>Tct	p.T334S	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.T269S	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T334S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTCAACCCTTACTAAACATAA	0.333000													13	36					0	0	0.013537	0	0
HCFC2	29915	broad.mit.edu	37	12	104496743	104496743	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:104496743G>A	ENST00000229330.4	+	15	2175	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	691	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.E691K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAGAATGTTGAAGGTATCCA	0.393000													13	30					0	0	0.020292	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84566611	84566611	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:84566611G>T	ENST00000286744.5	+	14	1693	c.1467_splice	c.e14-1	p.C490_splice	ADAMTSL3_ENST00000567476.1_Splice_Site_p.C490_splice	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	490	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C490Y(1)|p.C490F(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTTGAAGTGCACAGTGACT	0.448000													5	34					3.59834e-05	4.29159e-05	0.021553	1	0
TCEB3B	51224	broad.mit.edu	37	18	44561593	44561593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:44561593G>T	ENST00000332567.4	-	1	395	c.43C>A	c.(43-45)Cag>Aag	p.Q15K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	15	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	p.Q15K(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGACGCACCTGCAGCTTCTCC	0.607000													11	27					0.000673444	0.000749552	0.008291	1	0
SNHG14	104472715	broad.mit.edu	37	15	25438402	25438402	+	RNA	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:25438402C>T	ENST00000424208.1	+	0	1261				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GTGTGCTGCACCGAGCTGTGA	0.572000													31	164					0	0	0.037714	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55020225	55020225	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:55020225C>A	ENST00000324000.3	+	1	2182	c.148C>A	c.(148-150)Ccc>Acc	p.P50T		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	50					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.P50T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		CCCGGGGGCGCCCCGAATGTA	0.582000													7	104					0.00448238	0.0048118	0.004482	1	0
HYDIN	54768	broad.mit.edu	37	16	70935048	70935048	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:70935048C>G	ENST00000393567.2	-	53	9057	c.8907G>C	c.(8905-8907)cgG>cgC	p.R2969R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2969								p.R2968R(1)|p.R2920R(1)|p.R526R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGCTGGTGATCCGCCAGGCCA	0.527000													11	128					0	0	0.016723	0	0
ZEB2	9839	broad.mit.edu	37	2	145157187	145157187	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:145157187T>C	ENST00000558170.2	-	8	2751	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZEB2_ENST00000409487.3_Missense_Mutation_p.K523E|ZEB2_ENST00000303660.4_Missense_Mutation_p.K523E|ZEB2_ENST00000539609.3_Missense_Mutation_p.K499E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	523						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	p.K523E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATAATACTTTTAGTGGCACCA	0.423000													22	93					0	0	0.012319	0	0
OPRM1	4988	broad.mit.edu	37	6	154411019	154411019	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:154411019G>T	ENST00000414028.2	+	2	399	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	OPRM1_ENST00000419506.2_Missense_Mutation_p.A117S|OPRM1_ENST00000330432.7_Missense_Mutation_p.A117S|OPRM1_ENST00000435918.2_Missense_Mutation_p.A117S|OPRM1_ENST00000360422.4_Missense_Mutation_p.A117S|OPRM1_ENST00000518759.1_Missense_Mutation_p.A36S|OPRM1_ENST00000434900.2_Missense_Mutation_p.A210S|OPRM1_ENST00000452687.2_Missense_Mutation_p.A117S|OPRM1_ENST00000520708.1_Missense_Mutation_p.A17S|OPRM1_ENST00000524163.1_Missense_Mutation_p.A117S|OPRM1_ENST00000337049.4_Missense_Mutation_p.A117S|OPRM1_ENST00000428397.2_Missense_Mutation_p.A117S|OPRM1_ENST00000522236.1_Missense_Mutation_p.A17S|OPRM1_ENST00000522555.1_Missense_Mutation_p.A17S|OPRM1_ENST00000229768.5_Missense_Mutation_p.A117S	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	117					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.A117S(2)|p.A210S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCTGGCAGATGCCTTAGCCAC	0.438000													32	93					6.00712e-18	1.10613e-17	0.012213	1	0
TNR	7143	broad.mit.edu	37	1	175299342	175299342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:175299342G>A	ENST00000367674.1	-	21	4369	c.3661C>T	c.(3661-3663)Cag>Tag	p.Q1221*	TNR_ENST00000263525.2_Nonsense_Mutation_p.Q1221*|RP3-518E13.2_ENST00000569593.1_RNA	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1221	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.Q1221*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TAGCGGCCCTGGGATGTGATC	0.567000													27	69					0	0	0.024334	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346553	70346553	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:70346553G>T	ENST00000305107.6	-	6	1432	c.1386C>A	c.(1384-1386)ttC>ttA	p.F462L	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.F326L	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	462					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F462L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATTCAATCCAGAAGACTGCTC	0.443000													19	178					4.35082e-09	6.24979e-09	0.010504	1	0
OR2L8	391190	broad.mit.edu	37	1	248112518	248112518	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248112518A>G	ENST00000357191.3	+	1	359	c.359A>G	c.(358-360)gAt>gGt	p.D120G	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D120G(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGGCCTATGATCGTTACATT	0.453000													10	237					0	0	0.006214	0	0
CRISP1	167	broad.mit.edu	37	6	49819733	49819733	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:49819733G>T	ENST00000335847.4	-	3	277	c.176C>A	c.(175-177)gCc>gAc	p.A59D	CRISP1_ENST00000507853.1_Missense_Mutation_p.A59D|CRISP1_ENST00000536021.1_Missense_Mutation_p.A59D|CRISP1_ENST00000329411.5_Missense_Mutation_p.A59D|CRISP1_ENST00000355791.2_Missense_Mutation_p.A59D|CRISP1_ENST00000505118.1_Missense_Mutation_p.A59D	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	59					fusion of sperm to egg plasma membrane	extracellular space		p.A59D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CATGTTGCTGGCTGGTGGAAC	0.383000													27	34					1.5548e-18	2.88337e-18	0.027356	1	0
EPHB6	2051	broad.mit.edu	37	7	142568609	142568609	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:142568609C>A	ENST00000392957.2	+	20	3805	c.3018C>A	c.(3016-3018)atC>atA	p.I1006I	EPHB6_ENST00000411471.2_Silent_p.I729I|EPHB6_ENST00000442129.1_Silent_p.I1006I|EPHB6_ENST00000476059.1_3'UTR	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	1006	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.I991I(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCACCACATCCAGCTCCTTC	0.607000													21	84					6.36457e-07	8.32389e-07	0.021523	1	0
POLE	5426	broad.mit.edu	37	12	133248877	133248877	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:133248877C>A	ENST00000320574.5	-	16	1761	c.1718G>T	c.(1717-1719)cGg>cTg	p.R573L	POLE_ENST00000535270.1_Missense_Mutation_p.R546L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	573					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.R573L(4)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTTCTCAACCCGCTGCAGCAG	0.562000								DNA polymerases (catalytic subunits)					13	129					1.15088e-07	1.54082e-07	0.028581	1	0
RDH16	8608	broad.mit.edu	37	12	57351015	57351015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:57351015C>A	ENST00000398138.3	-	1	1088	c.232G>T	c.(232-234)Gag>Tag	p.E78*	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	78					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity	p.E78*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GTCACCGTCTCCAGCCTGTCT	0.607000													12	94					6.72482e-11	1.04075e-10	0.024245	1	0
NSF	4905	broad.mit.edu	37	17	44788372	44788372	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:44788372A>C	ENST00000398238.4	+	14	1621	c.1514A>C	c.(1513-1515)aAc>aCc	p.N505T	NSF_ENST00000575068.1_Missense_Mutation_p.N500T|NSF_ENST00000225282.8_Missense_Mutation_p.N411T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	505					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.N505T(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TACATTATGAACGGTATCATC	0.428000													9	62					0	0	0.008291	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459730	107459730	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:107459730C>A	ENST00000409382.3	-	2	1314	c.704G>T	c.(703-705)gGg>gTg	p.G235V	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G235V|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G235V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	235					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.G235V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAGCGCACCCCGTGCTTGTT	0.677000													13	16					6.31663e-08	8.58956e-08	0.024245	1	0
LIMCH1	22998	broad.mit.edu	37	4	41615532	41615532	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:41615532A>T	ENST00000313860.7	+	7	590	c.536A>T	c.(535-537)tAc>tTc	p.Y179F	LIMCH1_ENST00000381753.4_Missense_Mutation_p.Y25F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.Y179F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.Y20F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.Y179F|LIMCH1_ENST00000509454.1_Missense_Mutation_p.Y27F|LIMCH1_ENST00000509277.1_Missense_Mutation_p.Y25F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.Y20F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.Y20F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.Y25F|LIMCH1_ENST00000512820.1_Missense_Mutation_p.Y179F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.Y179F|LIMCH1_ENST00000509638.1_Missense_Mutation_p.Y20F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.Y32F	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	179					actomyosin structure organization		actin binding|zinc ion binding	p.Y20F(1)|p.Y179F(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GACAGTGGCTACATCGACTGC	0.498000													4	24					0	0	0.003080	0	0
SND1	27044	broad.mit.edu	37	7	127341286	127341286	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:127341286G>T	ENST00000354725.3	+	5	692	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	166	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	p.E166_G167>DW(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGTGGAGTGAGGGGAACGGTT	0.468000													10	114					0.000673444	0.000749552	0.008291	1	0
CCDC63	160762	broad.mit.edu	37	12	111291371	111291371	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:111291371A>T	ENST00000308208.5	+	3	414	c.172A>T	c.(172-174)Agt>Tgt	p.S58C	CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000545036.1_Missense_Mutation_p.S18C	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	58				RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580).				p.S58C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GAAGATTGCGAGTCAGTAGTA	0.527000													8	77					0	0	0.006214	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55329796	55329796	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:55329796G>T	ENST00000391728.4	+	3	130	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A33S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A33S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A33S|KIR3DL1_ENST00000358178.4_Intron|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.A33S	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.A33S(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTTCCTGTCTGCCTGGCCCAG	0.547000													47	51					7.77372e-23	1.52426e-22	0.014410	1	0
SETBP1	26040	broad.mit.edu	37	18	42531802	42531802	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:42531802A>T	ENST00000282030.5	+	4	2793	c.2497A>T	c.(2497-2499)Aga>Tga	p.R833*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	833						nucleus	DNA binding	p.R779*(1)|p.R833*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTCTCCACCCAGACTGATGGC	0.527000									Schinzel-Giedion syndrome				6	73					0	0	0.021553	0	0
ILK	3611	broad.mit.edu	37	11	6630604	6630604	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:6630604G>C	ENST00000396751.2	+	7	1149	c.693G>C	c.(691-693)aaG>aaC	p.K231N	ILK_ENST00000537806.1_Missense_Mutation_p.K97N|ILK_ENST00000299421.4_Missense_Mutation_p.K231N|ILK_ENST00000528995.1_Missense_Mutation_p.K170N|ILK_ENST00000526711.1_3'UTR|RP11-732A19.2_ENST00000527398.1_RNA|ILK_ENST00000420936.2_Missense_Mutation_p.K231N	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	231	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity	p.K231N(1)		central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		GTACAAGGAAGAGCAGGGACT	0.542000													6	176					0	0	0.021553	0	0
MYO18B	84700	broad.mit.edu	37	22	26400821	26400821	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:26400821G>T	ENST00000335473.7	+	42	6720	c.6470_splice	c.e42+1	p.R2157_splice	MYO18B_ENST00000536101.1_Splice_Site_p.R2157_splice|MYO18B_ENST00000407587.2_Splice_Site_p.R2158_splice	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2157						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.R2158M(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCAGCCCCAGGTAAGAGTAT	0.507000													17	50					1.39649e-27	2.83661e-27	0.012213	1	0
C12orf45	121053	broad.mit.edu	37	12	105388402	105388402	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:105388402G>T	ENST00000552951.1	+	4	529	c.486G>T	c.(484-486)aaG>aaT	p.K162N	C12orf45_ENST00000548583.1_3'UTR|C12orf45_ENST00000280749.5_3'UTR	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	162								p.K162N(1)		large_intestine(1)|lung(2)	3						ATAACATTAAGCTTCCCAATT	0.373000													5	49					1.23904e-05	1.51102e-05	0.014758	1	0
USP29	57663	broad.mit.edu	37	19	57640672	57640672	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:57640672C>A	ENST00000254181.4	+	4	1083	c.629C>A	c.(628-630)cCa>cAa	p.P210Q	USP29_ENST00000598197.1_Missense_Mutation_p.P210Q	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	210					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.P210Q(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGAAGAACCCATCAAGTTTA	0.353000													27	84					3.6726e-16	6.59445e-16	0.021523	1	0
CLVS1	157807	broad.mit.edu	37	8	62370920	62370920	+	Translation_Start_Site	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:62370920T>G	ENST00000518592.1	+	0	508				CLVS1_ENST00000325897.4_Missense_Mutation_p.F266V|CLVS1_ENST00000519846.1_Missense_Mutation_p.F266V			Q8IUQ0	CLVS1_HUMAN	clavesin 1						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.F266V(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACACCCTGAATTTTTGCCCTC	0.403000													31	161					0	0	0.012213	0	0
ADAM18	8749	broad.mit.edu	37	8	39535050	39535050	+	Silent	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:39535050A>G	ENST00000265707.5	+	15	1671	c.1626A>G	c.(1624-1626)gaA>gaG	p.E542E	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.E518E	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	542	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	p.E542E(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TACCTTGTGAACGGAAGTACG	0.303000													13	28					0	0	0.013537	0	0
ZNF558	148156	broad.mit.edu	37	19	8922189	8922189	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:8922189C>A	ENST00000601372.1	-	10	1688	c.977G>T	c.(976-978)gGg>gTg	p.G326V	ZNF558_ENST00000444186.2_Missense_Mutation_p.G255V|ZNF558_ENST00000301475.1_Missense_Mutation_p.G326V			Q96NG5	ZN558_HUMAN	zinc finger protein 558	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G326L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						GAAGGATTTCCCACACTCGTT	0.433000													8	68					0.000157383	0.0001809	0.003080	1	0
RECQL5	9400	broad.mit.edu	37	17	73657142	73657142	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:73657142C>T	ENST00000420326.2	-	6	1038	c.879G>A	c.(877-879)ctG>ctA	p.L293L	RECQL5_ENST00000340830.5_Silent_p.L293L|RECQL5_ENST00000317905.5_Silent_p.L293L|RECQL5_ENST00000423245.2_Silent_p.L266L|RECQL5_ENST00000584999.1_Silent_p.L293L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	293	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.L266L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGAGGCCTTCAGCCCTGTAA	0.507000								Other identified genes with known or suspected DNA repair function					7	308					0	0	0.029380	0	0
PIH1D3	139212	broad.mit.edu	37	X	106486460	106486460	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:106486460C>A	ENST00000535523.1	+	8	914	c.577C>A	c.(577-579)Cca>Aca	p.P193T	PIH1D3_ENST00000336387.4_Missense_Mutation_p.P193T|PIH1D3_ENST00000372453.3_Missense_Mutation_p.P193T	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3									p.P193T(1)									ATTCTATATCCCAGAGACTGA	0.328000													38	89					1.49673e-21	2.90411e-21	0.025465	1	0
MAGEC2	51438	broad.mit.edu	37	X	141291520	141291520	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:141291520C>A	ENST00000247452.3	-	3	601	c.254G>T	c.(253-255)aGt>aTt	p.S85I		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	85	Ser-rich.					cytoplasm|nucleus		p.S85I(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					tggaggacTACTGGGAATGCT	0.547000										HNSCC(46;0.14)			35	74					9.04072e-19	1.6838e-18	0.015359	1	0
ATP2B3	492	broad.mit.edu	37	X	152815042	152815042	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:152815042G>T	ENST00000370186.1	+	9	1710	c.1384G>T	c.(1384-1386)Ggc>Tgc	p.G462C	ATP2B3_ENST00000263519.4_Missense_Mutation_p.G476C|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G476C|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G462C|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G462C|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G476C			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	476					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G476C(3)|p.G462C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACAAGACGGGCACGCTCAC	0.587000													12	209					3.51602e-12	5.70639e-12	0.008871	1	0
CD248	57124	broad.mit.edu	37	11	66082936	66082936	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:66082936A>T	ENST00000311330.3	-	1	1579	c.1563T>A	c.(1561-1563)taT>taA	p.Y521*	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	521	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.Y521*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGAGCTCCGGATATTTGGTTG	0.567000													22	120					0	0	0.018920	0	0
FUT10	84750	broad.mit.edu	37	8	33246764	33246764	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:33246764C>G	ENST00000327671.5	-	4	1560	c.929G>C	c.(928-930)aGc>aCc	p.S310T	FUT10_ENST00000518672.1_Missense_Mutation_p.S282T|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000335589.3_Missense_Mutation_p.S248T|FUT10_ENST00000524021.1_Missense_Mutation_p.S282T	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	310					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.S310T(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTCTGTGATGCTGGGGGATCC	0.453000													18	44					0	0	0.008871	0	0
LY75	4065	broad.mit.edu	37	2	160692035	160692035	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:160692035T>G	ENST00000263636.4	-	26	3656	c.3629A>C	c.(3628-3630)gAt>gCt	p.D1210A	LY75_ENST00000554112.1_Missense_Mutation_p.D1210A|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.D1210A|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.D1210A|LY75_ENST00000553424.1_Missense_Mutation_p.D1210A	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.D1210A(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GTCATTGCAATCAACTGTTTT	0.373000													4	40					0	0	0.009096	0	0
HES3	390992	broad.mit.edu	37	1	6305524	6305524	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:6305524G>T	ENST00000377898.3	+	4	583	c.518G>T	c.(517-519)cGc>cTc	p.R173L		NM_001024598.3	NP_001019769.1	Q5TGS1	HES3_HUMAN	hes family bHLH transcription factor 3	173					transcription, DNA-dependent	nucleus	DNA binding	p.R173L(1)		lung(2)|skin(1)	3	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		CTGGGCCTGCGCGTGTGGCGG	0.687000													3	15					2.56e-06	3.22168e-06	0.009096	1	0
CUL3	8452	broad.mit.edu	37	2	225346795	225346795	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:225346795C>A	ENST00000264414.4	-	14	2181	c.1842_splice	c.e14-1	p.E615_splice	CUL3_ENST00000409096.1_Splice_Site_p.E591_splice|CUL3_ENST00000409777.1_Splice_Site_p.E591_splice|CUL3_ENST00000344951.4_Splice_Site_p.E549_splice	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	615					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.E615*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGCTGAATTTCCTGAAATTTC	0.373000													4	15					2.56e-06	3.22168e-06	0.009096	1	0
IGHV3-38	28429	broad.mit.edu	37	14	106866534	106866534	+	RNA	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:106866534T>A	ENST00000390618.2	-	0	297																											TAGTATGTGCTACCACCACTA	0.532000													16	290					0	0	0.024245	0	0
DDX51	317781	broad.mit.edu	37	12	132624412	132624412	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:132624412T>C	ENST00000397333.3	-	13	1871	c.1833A>G	c.(1831-1833)aaA>aaG	p.K611K		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	611	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.K611K(1)		endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCACCTGCACTTTCAGGAGCA	0.587000													46	135					0	0	0.014410	0	0
SLC36A1	206358	broad.mit.edu	37	5	150856211	150856211	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:150856211G>C	ENST00000243389.3	+	9	1106	c.883G>C	c.(883-885)Ggc>Cgc	p.G295R	SLC36A1_ENST00000520701.1_Missense_Mutation_p.G295R|SLC36A1_ENST00000521925.1_Missense_Mutation_p.G295R	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	295					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.G295R(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CCTGTACCTGGGCATGGTCAT	0.502000													22	100					0	0	0.024334	0	0
OR10J3	441911	broad.mit.edu	37	1	159284112	159284112	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159284112C>A	ENST00000332217.5	-	1	337	c.338G>T	c.(337-339)tGc>tTc	p.C113F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C113F(1)		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)					GAGCAGGAAGCAGTTGTTGAT	0.512000													25	85					5.61819e-17	1.02868e-16	0.027356	1	0
PITX1	5307	broad.mit.edu	37	5	134364843	134364843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:134364843G>T	ENST00000265340.7	-	3	987	c.571C>A	c.(571-573)Cca>Aca	p.P191T	PITX1_ENST00000506438.1_Missense_Mutation_p.P191T	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	191	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding	p.P191T(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		AGCGGCGCTGGCGCCAGGCTC	0.632000													22	71					2.39556e-15	4.2313e-15	0.016522	1	0
USPL1	10208	broad.mit.edu	37	13	31221140	31221140	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:31221140G>T	ENST00000255304.4	+	7	1526	c.1184G>T	c.(1183-1185)gGt>gTt	p.G395V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	395					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	p.G395V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GCCCATTTTGGTCCATGTAAC	0.323000													12	34					0.00010058	0.000116953	0.013537	1	0
EYS	346007	broad.mit.edu	37	6	66044986	66044986	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:66044986C>A	ENST00000503581.1	-	11	2190	c.1653G>T	c.(1651-1653)cgG>cgT	p.R551R	EYS_ENST00000370616.2_Silent_p.R551R|EYS_ENST00000370618.3_Silent_p.R551R|EYS_ENST00000370621.3_Silent_p.R551R|EYS_ENST00000393380.2_Silent_p.R551R|EYS_ENST00000342421.5_Silent_p.R551R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	551			R -> L.		response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AACATAGATACCGATATTCCT	0.358000													10	43					0.000151284	0.000175441	0.016723	1	0
SNTG1	54212	broad.mit.edu	37	8	51449291	51449291	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:51449291G>C	ENST00000522124.1	+	11	1264	c.603G>C	c.(601-603)aaG>aaC	p.K201N	SNTG1_ENST00000518864.1_Missense_Mutation_p.K201N|SNTG1_ENST00000517473.1_Missense_Mutation_p.K201N|SNTG1_ENST00000276467.5_Missense_Mutation_p.K201N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	201					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.K201N(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GGTGGGAGAAGCGATGGTGCG	0.478000													104	165					0	0	0.014410	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745823	140745823	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140745823C>G	ENST00000518069.1	+	1	1926	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.L642L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGAGCCTCGTGGTGGCCG	0.657000													38	204					0	0	0.021022	0	0
OR2B3	442184	broad.mit.edu	37	6	29054813	29054813	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:29054813G>T	ENST00000377173.2	-	1	277	c.213C>A	c.(211-213)ctC>ctA	p.L71L		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.L71L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGGTATAGCAGAGATCTAAGA	0.428000													15	149					2.61681e-11	4.09863e-11	0.020292	1	0
RTBDN	83546	broad.mit.edu	37	19	12939733	12939733	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:12939733C>A	ENST00000589272.1	-	4	629	c.300G>T	c.(298-300)gaG>gaT	p.E100D	RTBDN_ENST00000458671.2_Missense_Mutation_p.E68D|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000592204.1_Missense_Mutation_p.E78D|RTBDN_ENST00000393233.2_Missense_Mutation_p.R27I|RTBDN_ENST00000322912.5_Missense_Mutation_p.E100D			Q9BSG5	RTBDN_HUMAN	retbindin	68						extracellular region		p.E100D(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GGCCCGATGTCTCTGTTGTGT	0.557000													15	160					1.3612e-06	1.74858e-06	0.024245	1	0
OR10H5	284433	broad.mit.edu	37	19	15904977	15904977	+	Missense_Mutation	SNP	T	T	G	rs61741282		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:15904977T>G	ENST00000308940.8	+	1	217	c.119T>G	c.(118-120)cTg>cGg	p.L40R		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L40R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCACGCTGCTGGGCAACCTG	0.577000													67	178					0	0	0.014410	0	0
ROR2	4920	broad.mit.edu	37	9	94487290	94487290	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:94487290C>A	ENST00000375708.3	-	9	1684	c.1486G>T	c.(1486-1488)Gcc>Tcc	p.A496S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A356S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	496	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.A496S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCCCCCGGGGCAGGGCCGAAC	0.617000													177	450					8.43866e-73	1.80729e-72	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82580055	82580055	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:82580055C>A	ENST00000423517.2	-	6	10186	c.9849G>T	c.(9847-9849)caG>caT	p.Q3283H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q3283H|PCLO_ENST00000437081.1_Missense_Mutation_p.Q3H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3214					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.Q3283H(2)|p.Q3214H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAACGTCTCCTGCCTCATCA	0.493000													43	167					6.68952e-21	1.27888e-20	0.013114	1	0
KCNQ5	56479	broad.mit.edu	37	6	73904317	73904317	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:73904317C>A	ENST00000342056.2	+	15	2434	c.2036C>A	c.(2035-2037)cCt>cAt	p.P679H	KCNQ5_ENST00000414165.2_Missense_Mutation_p.P550H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P661H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P670H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P660H|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P660H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.P651H	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	660					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.P660H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TATCAAAGCCCTGTGGATAGC	0.493000													31	87					6.19805e-25	1.23771e-24	0.023175	1	0
TDRD3	81550	broad.mit.edu	37	13	61057959	61057959	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:61057959G>T	ENST00000196169.3	+	6	1055	c.267G>T	c.(265-267)ccG>ccT	p.P89P	TDRD3_ENST00000377894.2_Silent_p.P89P|TDRD3_ENST00000535286.1_Silent_p.P182P|TDRD3_ENST00000377881.2_Silent_p.P89P	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	89					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.P89P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTGGACCACCGCCTTTTGTGC	0.343000													9	51					1.76689e-08	2.46191e-08	0.006214	1	0
ABRACL	58527	broad.mit.edu	37	6	139355328	139355328	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:139355328G>C	ENST00000367660.3	+	2	231	c.31G>C	c.(31-33)Gtg>Ctg	p.V11L	ABRACL_ENST00000461027.1_Missense_Mutation_p.V11L	NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN	ABRA C-terminal like	11								p.V11L(1)									TAACCTCTTAGTGGAGGAAAT	0.413000													23	119					0	0	0.016522	0	0
STK31	56164	broad.mit.edu	37	7	23802539	23802539	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:23802539G>A	ENST00000354639.3	+	11	1808	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	STK31_ENST00000428484.1_Silent_p.L448L|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Silent_p.L471L|STK31_ENST00000433467.2_Silent_p.L471L	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	471							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.L471L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAAAACATTGCAGGTTGGaa	0.294000													9	40					0	0	0.004482	0	0
GALNT1	2589	broad.mit.edu	37	18	33283564	33283564	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:33283564G>T	ENST00000269195.5	+	10	1593	c.1490G>T	c.(1489-1491)tGc>tTc	p.C497F	GALNT1_ENST00000537549.1_Missense_Mutation_p.C437F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	497	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.C497F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGCTCAAATGCCACCACCTA	0.383000													13	49					9.31168e-06	1.15068e-05	0.016723	1	0
SLAMF9	89886	broad.mit.edu	37	1	159921658	159921658	+	Splice_Site	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159921658T>A	ENST00000368093.3	-	4	781		c.e4-2		SLAMF9_ENST00000368092.3_Splice_Site|SLAMF9_ENST00000466773.1_Splice_Site	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9							integral to membrane		p.?(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGTTAGGATCTGGGGTGGAAG	0.502000													14	81					0	0	0.016723	0	0
GPC6	10082	broad.mit.edu	37	13	94938671	94938671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:94938671G>T	ENST00000377047.4	+	5	1561	c.946G>T	c.(946-948)Gat>Tat	p.D316Y		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	316						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.D316Y(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GGACCCGATAGATGTCAAGAT	0.418000													5	37					3.59834e-05	4.29159e-05	0.021553	1	0
CSMD3	114788	broad.mit.edu	37	8	113323339	113323339	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113323339C>A	ENST00000297405.5	-	50	7997	c.7753G>T	c.(7753-7755)Ggt>Tgt	p.G2585C	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2481C|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2515C|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2545C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2585	Sushi 14.					integral to membrane|plasma membrane		p.G2585F(1)|p.G2545F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTGCCCACCTGTCTGACTG	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	138					5.35267e-07	7.02166e-07	0.007413	1	0
MED13L	23389	broad.mit.edu	37	12	116434322	116434322	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:116434322C>A	ENST00000281928.3	-	16	3161	c.2955G>T	c.(2953-2955)ctG>ctT	p.L985L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	985					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.L985L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGGGCATGGGCAGTTGTTCAA	0.428000													20	47					3.51602e-12	5.70639e-12	0.008871	1	0
EHMT1	79813	broad.mit.edu	37	9	140729344	140729344	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:140729344A>C	ENST00000460843.1	+	27	3863	c.3836A>C	c.(3835-3837)cAg>cCg	p.Q1279P		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1279					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.Q1248P(1)|p.Q1279P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGCGCGGCCCAGGAGGCCCAG	0.741000													13	33					0	0	0.020292	0	0
UBA6	55236	broad.mit.edu	37	4	68512442	68512442	+	Splice_Site	SNP	C	C	G	rs140068938		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:68512442C>G	ENST00000322244.4	-	15	1375	c.1316_splice	c.e15+1	p.R439_splice		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	439					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.R439P(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCATTATTACCGTGGGAGAAA	0.299000													15	56					0	0	0.028581	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617325	70617325	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:70617325T>C	ENST00000260126.3	-	6	2269	c.1563A>G	c.(1561-1563)ctA>ctG	p.L521L	SLCO5A1_ENST00000530307.1_Silent_p.L466L|SLCO5A1_ENST00000524945.1_Silent_p.L521L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	521						integral to membrane|plasma membrane	transporter activity	p.L521L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CAACAATAAATAGGGTTGAAA	0.403000													23	119					0	0	0.018920	0	0
GPNMB	10457	broad.mit.edu	37	7	23299711	23299711	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:23299711G>T	ENST00000258733.4	+	5	949	c.654G>T	c.(652-654)cgG>cgT	p.R218R	GPNMB_ENST00000381990.2_Silent_p.R218R|GPNMB_ENST00000539136.1_Silent_p.R119R|GPNMB_ENST00000453162.2_Silent_p.R160R			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	218					negative regulation of cell proliferation	melanosome		p.R218R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GACATGGACGGGCATATGTTC	0.468000													44	107					1.00001e-27	2.03444e-27	0.036044	1	0
ZC3H14	79882	broad.mit.edu	37	14	89073594	89073594	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:89073594G>A	ENST00000251038.5	+	13	1980	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	ZC3H14_ENST00000336693.4_Missense_Mutation_p.M420I|ZC3H14_ENST00000318308.6_Missense_Mutation_p.M156I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M580I|ZC3H14_ENST00000557607.1_Missense_Mutation_p.M274I|ZC3H14_ENST00000556945.1_Missense_Mutation_p.M454I|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M287I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.M420I|ZC3H14_ENST00000406216.3_Missense_Mutation_p.M131I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.M560I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.M429I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	585						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	p.M585I(1)|p.M156I(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAGCTGAGATGAGTGAACTGA	0.413000													4	88					0	0	0.014758	0	0
RARB	5915	broad.mit.edu	37	3	25542753	25542753	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:25542753C>T	ENST00000330688.4	+	3	808	c.387C>T	c.(385-387)acC>acT	p.T129T	RARB_ENST00000458646.1_Silent_p.T17T|RARB_ENST00000437042.2_Silent_p.T17T|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Silent_p.T136T	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	136					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.T129T(1)|p.T136T(1)		breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ATAAAGTCACCAGGAATCGAT	0.393000													14	109					0	0	0.020292	0	0
MUC16	94025	broad.mit.edu	37	19	9064968	9064968	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9064968G>T	ENST00000397910.4	-	3	22681	c.22478C>A	c.(22477-22479)tCc>tAc	p.S7493Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7495	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7493Y(2)|p.S3126Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGACAGAGGAAGGGGATTC	0.468000													19	155					2.39187e-15	4.2313e-15	0.008871	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860159	67860159	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:67860159C>A	ENST00000388833.3	+	10	1464	c.1087C>A	c.(1087-1089)Cgg>Agg	p.R363R	TSNAXIP1_ENST00000415766.3_Silent_p.R348R|TSNAXIP1_ENST00000561639.1_Silent_p.R417R	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	363					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.R363R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GGGGCTGCTGCGGGAGAAAGA	0.632000													10	78					3.07112e-06	3.85372e-06	0.010729	1	0
SH3TC2	79628	broad.mit.edu	37	5	148384392	148384392	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:148384392T>A	ENST00000515425.1	-	17	3850	c.3749A>T	c.(3748-3750)cAg>cTg	p.Q1250L	SH3TC2_ENST00000538184.1_3'UTR|SH3TC2_ENST00000502274.1_Missense_Mutation_p.Q112L|SH3TC2_ENST00000512049.1_Missense_Mutation_p.Q1243L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1250							binding	p.Q1250L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGTGTCCTGAAGCTCCTC	0.622000													4	83					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9084426	9084426	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9084426C>A	ENST00000397910.4	-	1	7592	c.7389G>T	c.(7387-7389)tcG>tcT	p.S2463S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2463	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S2463S(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAATAGGGCCGAGCTTGTCT	0.507000													20	47					8.34094e-07	1.08216e-06	0.008871	1	0
CACNA2D1	781	broad.mit.edu	37	7	81689761	81689761	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:81689761A>T	ENST00000356860.3	-	10	1200	c.862T>A	c.(862-864)Ttc>Atc	p.F288I	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.F288I|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.F288I	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	288	VWFA.					voltage-gated calcium channel complex	metal ion binding	p.F288I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ACATTCACGAAATCATCATCT	0.353000													9	54					0	0	0.004482	0	0
OR1S2	219958	broad.mit.edu	37	11	57971092	57971092	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:57971092G>T	ENST00000302592.6	-	1	561	c.562C>A	c.(562-564)Cca>Aca	p.P188T		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P188T(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAGAAGTGTGGGAGAGTGTTG	0.428000													64	155					6.25564e-26	1.25693e-25	0.014410	1	0
KLHL10	317719	broad.mit.edu	37	17	39998215	39998215	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:39998215T>A	ENST00000293303.4	+	2	488	c.335T>A	c.(334-336)cTg>cAg	p.L112Q	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	112						cytoplasm		p.L112Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GTGGAGAAACTGCTTGCTGCT	0.488000													29	106					0	0	0.009535	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161117	161161117	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:161161117C>T	ENST00000367996.4	-	9	2753	c.2325G>A	c.(2323-2325)ggG>ggA	p.G775G		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	775	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.G775G(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGCCAGTGGCCCATGGCCTG	0.637000													11	65					0	0	0.020292	0	0
MARCH4	57574	broad.mit.edu	37	2	217124302	217124302	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:217124302G>A	ENST00000273067.4	-	4	2732	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	322						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	p.D322D(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GATCCTCCAGGTCTTTTGTCT	0.567000													11	61					0	0	0.013537	0	0
LGI1	9211	broad.mit.edu	37	10	95556853	95556853	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:95556853G>C	ENST00000371418.4	+	8	1227	c.967G>C	c.(967-969)Gat>Cat	p.D323H	LGI1_ENST00000542308.1_Missense_Mutation_p.D275H|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	323					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.D323H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AAAAATCCAGGATATTGAAAT	0.363000													3	108					0	0	0.004672	0	0
MYO1A	4640	broad.mit.edu	37	12	57432685	57432685	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:57432685G>A	ENST00000442789.2	-	17	1728	c.1441C>T	c.(1441-1443)Cac>Tac	p.H481Y	MYO1A_ENST00000544473.1_Missense_Mutation_p.H319Y|MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.H481Y	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	481	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.H481Y(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCTCGTAGTGGCCATGCTTG	0.567000													13	87					0	0	0.020292	0	0
SAMM50	25813	broad.mit.edu	37	22	44368118	44368118	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:44368118G>T	ENST00000350028.4	+	5	482	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	SAMM50_ENST00000493161.1_3'UTR|SAMM50_ENST00000396202.3_Intron	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	109					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	p.D109Y(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTATTTAGGTGATGACGCACT	0.363000													10	93					1.76689e-08	2.46191e-08	0.006214	1	0
PAX5	5079	broad.mit.edu	37	9	36966699	36966699	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:36966699C>T	ENST00000358127.4	-	6	701	c.627G>A	c.(625-627)ccG>ccA	p.P209P	PAX5_ENST00000523241.1_Silent_p.P209P|PAX5_ENST00000523145.1_Silent_p.P101P|PAX5_ENST00000377852.2_Silent_p.P209P|PAX5_ENST00000414447.1_Silent_p.P166P|PAX5_ENST00000522003.1_Silent_p.P101P|PAX5_ENST00000377853.2_Silent_p.P209P|PAX5_ENST00000446742.1_Silent_p.P143P|PAX5_ENST00000520154.1_Silent_p.P209P|PAX5_ENST00000377847.2_Silent_p.P209P|PAX5_ENST00000520281.1_Silent_p.P166P	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	209					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)|p.P209P(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGTGGCCGTTCGGCACCGGAG	0.562000			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""								7	78					0	0	0.008291	0	0
BACH2	60468	broad.mit.edu	37	6	90660326	90660326	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:90660326C>A	ENST00000257749.4	-	7	2206	c.1499G>T	c.(1498-1500)tGc>tTc	p.C500F	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.C500F|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.C500F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	500						nucleus	protein dimerization activity|sequence-specific DNA binding	p.C500F(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGTACCGGGCAGCTGGTGTT	0.657000													14	90					3.52763e-06	4.4223e-06	0.033300	1	0
CDH9	1007	broad.mit.edu	37	5	26881641	26881641	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:26881641G>T	ENST00000231021.4	-	12	2146	c.1974C>A	c.(1972-1974)acC>acA	p.T658T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	658					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T658T(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATCGTTGTAGGTCACAATGT	0.423000													8	78					0.000442599	0.000498595	0.006214	1	0
OCM2	4951	broad.mit.edu	37	7	97619369	97619369	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:97619369G>T	ENST00000257627.4	-	1	139	c.48C>A	c.(46-48)ctC>ctA	p.L16L	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	16							calcium ion binding	p.L16L(1)		lung(4)	4						GGCATTCCTGGAGCGCTGCTG	0.542000													10	96					3.86212e-05	4.58516e-05	0.008291	1	0
TRPV2	51393	broad.mit.edu	37	17	16321156	16321156	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:16321156C>G	ENST00000338560.7	+	2	573	c.174C>G	c.(172-174)ctC>ctG	p.L58L	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	58	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.L58L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGTCAACCTCAACTACCGAA	0.612000													4	59					0	0	0.009096	0	0
PPEF2	5470	broad.mit.edu	37	4	76781891	76781891	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:76781891C>G	ENST00000286719.7	-	17	2547	c.2191G>C	c.(2191-2193)Ggc>Cgc	p.G731R		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	731					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.G731R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGGCATCGCCCTCTGGGCAG	0.512000													8	74					0	0	0.003080	0	0
OBSL1	23363	broad.mit.edu	37	2	220421267	220421267	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:220421267G>T	ENST00000404537.1	-	13	4301	c.4245C>A	c.(4243-4245)atC>atA	p.I1415I	OBSL1_ENST00000603926.1_Silent_p.I1415I|OBSL1_ENST00000265317.5_Silent_p.I314I|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Silent_p.I1323I	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1415	Ig-like 12.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	p.I1415I(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCAAGGTTAAGATGCGGCTTG	0.632000													19	109					1.01871e-10	1.57097e-10	0.008871	1	0
LGR5	8549	broad.mit.edu	37	12	71946859	71946859	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:71946859G>T	ENST00000266674.5	+	5	746	c.435G>T	c.(433-435)ctG>ctT	p.L145L	LGR5_ENST00000536515.1_Intron|LGR5_ENST00000540815.2_Silent_p.L145L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	145						integral to plasma membrane	protein-hormone receptor activity	p.L145L(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ACAGGCGTCTGGATGCTAACC	0.507000													13	98					1.05317e-09	1.55405e-09	0.020292	1	0
PNLIPRP3	119548	broad.mit.edu	37	10	118204012	118204012	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:118204012T>A	ENST00000369230.3	+	4	589	c.443T>A	c.(442-444)aTt>aAt	p.I148N		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	148					lipid catabolic process	extracellular region	triglyceride lipase activity	p.I148N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		GCTTATTTTATTGATGTTCTC	0.318000													27	108					0	0	0.012213	0	0
NRAP	4892	broad.mit.edu	37	10	115405652	115405652	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:115405652G>T	ENST00000369358.4	-	11	1286	c.1042C>A	c.(1042-1044)Cac>Aac	p.H348N	NRAP_ENST00000360478.3_Missense_Mutation_p.H348N|NRAP_ENST00000369360.3_Missense_Mutation_p.H348N|NRAP_ENST00000359988.3_Missense_Mutation_p.H348N			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	348						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.H348N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GGAAGCGAGTGATAATGTGCA	0.468000													43	128					8.05343e-35	1.67511e-34	0.033182	1	0
PCDH7	5099	broad.mit.edu	37	4	30724540	30724540	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:30724540G>A	ENST00000361762.2	+	1	2504	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.R499Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	499	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R499Q(1)|p.R452Q(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAGGCCACCCGGGAGTTCAAC	0.597000													9	69					0	0	0.008291	0	0
CARNS1	57571	broad.mit.edu	37	11	67190960	67190960	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:67190960G>A	ENST00000445895.2	+	9	1855	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	CARNS1_ENST00000423745.2_Missense_Mutation_p.E458K|CARNS1_ENST00000307823.3_Missense_Mutation_p.E458K|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000531040.1_Missense_Mutation_p.E555K			A5YM72	CRNS1_HUMAN	carnosine synthase 1	458	ATP-grasp.				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	p.E16K(1)|p.E581K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCTGGCAGAGTTGGTGCG	0.597000													9	51					0	0	0.008291	0	0
TYR	7299	broad.mit.edu	37	11	88924513	88924513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:88924513C>A	ENST00000263321.5	+	2	1465	c.963C>A	c.(961-963)tgC>tgA	p.C321*	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	321					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.C321*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TAGAATTTTGCCTGAGTTTGA	0.428000													10	77					2.27111e-07	3.00045e-07	0.013537	1	0
ARHGAP44	9912	broad.mit.edu	37	17	12862139	12862139	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:12862139G>T	ENST00000379672.5	+	16	1748	c.1448G>T	c.(1447-1449)cGc>cTc	p.R483L	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.R483L|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.R483L	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	483					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R483L(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GCTGACCGGCGCCAGCCCGAG	0.542000													4	16					0.00116845	0.00128618	0.021553	1	0
DLK1	8788	broad.mit.edu	37	14	101200978	101200978	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:101200978C>A	ENST00000341267.4	+	5	1139	c.897C>A	c.(895-897)ctC>ctA	p.L299L	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	299					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.L299L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCCCTCTCCTCACCGAGGGCC	0.622000													21	130					1.28384e-07	1.7153e-07	0.012319	1	0
CACNA1C	775	broad.mit.edu	37	12	2786312	2786312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:2786312C>A	ENST00000399655.1	+	40	5146	c.4881C>A	c.(4879-4881)taC>taA	p.Y1627*	CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.Y1668*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.Y1646*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.Y1644*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.Y1646*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.Y1652*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.Y1646*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.Y1627*|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.Y1635*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.Y1635*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.Y1675*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.Y1655*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.Y1627*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.Y1647*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.Y1633*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1675					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.Y1675*(1)|p.Y1705*(1)|p.Y1162*(1)|p.Y1668*(1)|p.Y1627*(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCAGGAGTACTTCCGGAAGT	0.607000													14	31					0.000308642	0.000349812	0.024245	1	0
PCDH18	54510	broad.mit.edu	37	4	138453099	138453099	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:138453099T>A	ENST00000344876.4	-	1	530	c.144A>T	c.(142-144)tcA>tcT	p.S48S	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Silent_p.S48S|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	48	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S48S(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCACATCCTCTGATAGTCTTG	0.413000													38	90					0	0	0.023175	0	0
FREM1	158326	broad.mit.edu	37	9	14868888	14868888	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:14868888G>T	ENST00000380881.4	-	3	903	c.88C>A	c.(88-90)Cgc>Agc	p.R30S	FREM1_ENST00000380880.3_Missense_Mutation_p.R30S|FREM1_ENST00000422223.2_Missense_Mutation_p.R30S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	30					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTCACCCCGCGGTTGATGCTG	0.587000													6	19					4.096e-09	5.89679e-09	0.021553	1	0
MYO7A	4647	broad.mit.edu	37	11	76872033	76872033	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:76872033G>T	ENST00000409709.3	+	12	1487	c.1215G>T	c.(1213-1215)cgG>cgT	p.R405R	MYO7A_ENST00000458637.2_Silent_p.R405R|MYO7A_ENST00000409619.2_Silent_p.R394R|MYO7A_ENST00000409893.1_Silent_p.R405R	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	405	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R405R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTACGGGCGGCTGTTCGTGT	0.607000													5	10					1.024e-07	1.38091e-07	0.014758	1	0
ADARB2	105	broad.mit.edu	37	10	1313244	1313244	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:1313244G>C	ENST00000381312.1	-	4	1423	c.1098C>G	c.(1096-1098)tcC>tcG	p.S366S		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	366					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.S366S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGACCAGCTGGGATATGGAGT	0.602000													7	42					0	0	0.029380	0	0
TRIM9	114088	broad.mit.edu	37	14	51446110	51446110	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:51446110C>A	ENST00000298355.3	-	9	3186	c.2065G>T	c.(2065-2067)Gtg>Ttg	p.V689L	TRIM9_ENST00000338969.5_Missense_Mutation_p.V770L	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	689	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.V689L(1)|p.V770L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CTTACCTGCACGTTCCTGTTC	0.512000													36	183					9.17885e-22	1.78363e-21	0.015359	1	0
NTRK3	4916	broad.mit.edu	37	15	88476269	88476269	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:88476269C>A	ENST00000394480.1	-	16	2184	c.1863G>T	c.(1861-1863)aaG>aaT	p.K621N	NTRK3_ENST00000360948.2_Missense_Mutation_p.K621N|NTRK3_ENST00000542733.2_Missense_Mutation_p.K523N|NTRK3_ENST00000558676.1_Missense_Mutation_p.K613N|NTRK3_ENST00000557856.1_Missense_Mutation_p.K613N|NTRK3_ENST00000355254.2_Missense_Mutation_p.K621N|NTRK3_ENST00000357724.2_Missense_Mutation_p.K613N	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	621	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K621N(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTCTCCATGCTTCATGTATT	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			13	43					0.00244969	0.00266049	0.020292	1	0
ATP10B	23120	broad.mit.edu	37	5	160029653	160029653	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:160029653C>A	ENST00000327245.5	-	21	4140	c.3294G>T	c.(3292-3294)ctG>ctT	p.L1098L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1098					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	p.L1098L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGCACGAGCAGCAACTTCT	0.552000													12	43					0.000978159	0.00108222	0.010729	1	0
RDH13	112724	broad.mit.edu	37	19	55568079	55568079	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:55568079C>A	ENST00000396247.3	-	4	541	c.69G>T	c.(67-69)cgG>cgT	p.R23R	RDH13_ENST00000415061.3_Silent_p.R94R	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	94							binding|oxidoreductase activity	p.R94R(1)|p.R23R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	AGTCCAGGTGCCGGGCGTTGA	0.572000													7	76					8.12818e-05	9.47681e-05	0.029380	1	0
TSKU	25987	broad.mit.edu	37	11	76507338	76507338	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:76507338G>A	ENST00000527881.1	+	2	1704	c.678G>A	c.(676-678)gcG>gcA	p.A226A	TSKU_ENST00000333090.4_Silent_p.A226A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	226						extracellular region		p.A226A(2)		NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GTGCCTTCGCGGGGCTGGGAG	0.672000													57	150					0	0	0.014410	0	0
POLQ	10721	broad.mit.edu	37	3	121230733	121230733	+	Splice_Site	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:121230733C>G	ENST00000264233.5	-	10	1740		c.e10+1			NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.?(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCTCTCTTACCTCCAGAATA	0.343000								DNA polymerases (catalytic subunits)					17	139					0	0	0.008871	0	0
UNC79	57578	broad.mit.edu	37	14	94069601	94069601	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94069601G>T	ENST00000553484.1	+	26	3745	c.3591G>T	c.(3589-3591)agG>agT	p.R1197S	UNC79_ENST00000393151.2_Missense_Mutation_p.R1197S|UNC79_ENST00000555664.1_Missense_Mutation_p.R1197S|UNC79_ENST00000256339.4_Missense_Mutation_p.R1020S			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1197						integral to membrane		p.R1020S(1)|p.R1197S(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTGCTGTGAGGACCAATGTTG	0.468000													11	135					0.00136819	0.00149971	0.013537	1	0
DSG1	1828	broad.mit.edu	37	18	28934808	28934808	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:28934808G>T	ENST00000257192.4	+	15	2861	c.2649G>T	c.(2647-2649)atG>atT	p.M883I	DSG1_ENST00000462981.2_Missense_Mutation_p.M242I|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	883					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.M883I(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGTTAGAGATGCCTGACTTGC	0.493000													15	182					4.7546e-09	6.81476e-09	0.028581	1	0
NR1I3	9970	broad.mit.edu	37	1	161202960	161202960	+	Splice_Site	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:161202960C>T	ENST00000367983.4	-	4	701	c.408_splice	c.e4+1	p.R136_splice	NR1I3_ENST00000367984.4_Splice_Site_p.R136_splice|NR1I3_ENST00000442691.2_Splice_Site_p.R136_splice|NR1I3_ENST00000367985.3_Splice_Site_p.R136_splice|NR1I3_ENST00000506209.1_Splice_Site_p.R107_splice|NR1I3_ENST00000367982.4_Splice_Site_p.R136_splice|NR1I3_ENST00000367980.2_Splice_Site_p.R136_splice|NR1I3_ENST00000511676.1_Splice_Site_p.R107_splice|NR1I3_ENST00000428574.2_Splice_Site_p.R136_splice|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000508740.1_Splice_Site_p.R107_splice|NR1I3_ENST00000367979.2_Splice_Site_p.R136_splice|NR1I3_ENST00000515621.1_Splice_Site_p.R61_splice|NR1I3_ENST00000515452.1_Splice_Site_p.R136_splice|NR1I3_ENST00000505005.1_Splice_Site_p.R136_splice|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000504010.1_Splice_Site_p.R107_splice|NR1I3_ENST00000437437.2_Splice_Site_p.R107_splice|NR1I3_ENST00000512372.1_Splice_Site_p.R107_splice|NR1I3_ENST00000412844.2_Splice_Site_p.R107_splice|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000367981.3_Splice_Site_p.R107_splice			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	136					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.R136K(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTGCTCACCCTAAACTGCAC	0.522000													38	494					0	0	0.011902	0	0
CD300C	10871	broad.mit.edu	37	17	72541045	72541045	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:72541045C>A	ENST00000330793.1	-	2	463	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	35	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.V35L(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GATCCCCCCACGGGGCCCGCC	0.557000													11	85					7.05477e-17	1.28448e-16	0.033300	1	0
FAM208B	54906	broad.mit.edu	37	10	5782143	5782143	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:5782143G>T	ENST00000328090.5	+	13	2635	c.2010G>T	c.(2008-2010)gaG>gaT	p.E670D	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	670								p.E670D(1)									ATCTACAGGAGAGAGAGATAC	0.478000													18	228					8.00594e-06	9.92156e-06	0.007413	1	0
TCF19	6941	broad.mit.edu	37	6	31129474	31129474	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:31129474C>T	ENST00000376257.3	+	3	1243	c.489C>T	c.(487-489)ctC>ctT	p.L163L	TCF19_ENST00000376255.4_Silent_p.L163L|TCF19_ENST00000496421.1_Intron	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	163					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L163L(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGCGGCCTCTCAGCACCTTCT	0.642000													21	154					0	0	0.010504	0	0
TYRP1	7306	broad.mit.edu	37	9	12694303	12694303	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:12694303G>T	ENST00000388918.5	+	2	436	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	103					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.G103C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCACTGCAACGGCAATTTCTC	0.557000									Oculocutaneous Albinism				6	39					0.0293803	0.0304338	0.029380	1	0
RIMS4	140730	broad.mit.edu	37	20	43400047	43400047	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:43400047G>T	ENST00000372851.3	-	2	171	c.105C>A	c.(103-105)agC>agA	p.S35R	RIMS4_ENST00000541604.2_Missense_Mutation_p.S36R	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	35					exocytosis|neurotransmitter transport	cell junction|synapse		p.S35R(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TCAGCCTCCGGCTGTCCCCTT	0.627000													48	99					3.07002e-29	6.26534e-29	0.014410	1	0
CDH4	1002	broad.mit.edu	37	20	60348120	60348120	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:60348120T>A	ENST00000360469.5	+	4	546	c.458T>A	c.(457-459)cTg>cAg	p.L153Q	CDH4_ENST00000543233.1_Missense_Mutation_p.L79Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	153					adherens junction organization|cell junction assembly		calcium ion binding	p.L153Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACACCCTGCTGCCGTGGCCC	0.637000													7	70					0	0	0.003080	0	0
ZNF268	10795	broad.mit.edu	37	12	133768117	133768117	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:133768117G>T	ENST00000536435.2	+	4	607	c.277G>T	c.(277-279)Gag>Tag	p.E93*	ZNF268_ENST00000541009.2_Nonsense_Mutation_p.E93*|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000592241.1_Nonsense_Mutation_p.E26*|ZNF268_ENST00000542986.2_Intron|ZNF268_ENST00000228289.5_Nonsense_Mutation_p.E93*|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000416488.1_Nonsense_Mutation_p.E258*|ZNF268_ENST00000541211.2_Intron|CTD-2140B24.4_ENST00000540096.2_Nonsense_Mutation_p.E258*|ZNF268_ENST00000539248.2_Intron|ZNF268_ENST00000536899.2_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	93	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E93*(1)		NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTTTACCTGGGAGGAGTGGCA	0.453000													17	34					3.51602e-12	5.70639e-12	0.008871	1	0
SLC4A1	6521	broad.mit.edu	37	17	42337251	42337251	+	Missense_Mutation	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:42337251T>G	ENST00000262418.6	-	7	690	c.535A>C	c.(535-537)Aca>Cca	p.T179P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	179					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.T179P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGAGCGTGTCAGGACTGCA	0.602000													37	91					0	0	0.017118	0	0
SPINK13	153218	broad.mit.edu	37	5	147661762	147661762	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:147661762C>G	ENST00000512953.1	+	5	735	c.204C>G	c.(202-204)ttC>ttG	p.F68L	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000398450.4_Missense_Mutation_p.F68L|SPINK13_ENST00000511106.1_Missense_Mutation_p.F28L			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	68	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity	p.F68L(1)		breast(2)|lung(3)	5						GCCACACTTTCCAGAATGAGT	0.408000													19	86					0	0	0.007413	0	0
KIAA1755	85449	broad.mit.edu	37	20	36854137	36854137	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:36854137G>T	ENST00000279024.4	-	8	2370	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	700								p.P700H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAGCTGGCTGGGGTCCACATG	0.567000													14	30					0.0202918	0.0211204	0.020292	1	0
PRAMEF1	65121	broad.mit.edu	37	1	12853516	12853516	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:12853516G>T	ENST00000332296.7	+	2	243	c.140G>T	c.(139-141)aGa>aTa	p.R47I		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	47								p.R47I(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAGCAGGAGACACTTCCAG	0.572000													37	274					1.03484e-13	1.75625e-13	0.023175	1	0
KIF4B	285643	broad.mit.edu	37	5	154396417	154396417	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:154396417G>T	ENST00000435029.4	+	1	3158	c.2998G>T	c.(2998-3000)Gcc>Tcc	p.A1000S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1000	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.A1000S(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTCCAGGTAGCCAGCAGACA	0.418000													40	226					2.66277e-13	4.46657e-13	0.027894	1	0
MUC5B	727897	broad.mit.edu	37	11	1272807	1272807	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1272807C>T	ENST00000447027.1	+	31	14764	c.14706C>T	c.(14704-14706)acC>acT	p.T4902T	MUC5B_ENST00000529681.1_Silent_p.T4899T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4899	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCTCGTCCACCGTGGGGACCA	0.652000													3	28					0	0	0.021553	0	0
SLC44A5	204962	broad.mit.edu	37	1	75699758	75699758	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:75699758T>A	ENST00000370855.5	-	12	879	c.766A>T	c.(766-768)Agt>Tgt	p.S256C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.S256C|SLC44A5_ENST00000535611.1_Missense_Mutation_p.S126C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	256						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.S256C(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AATATCCAACTAAGGACCATG	0.403000													4	37					0	0	0.009096	0	0
COL4A1	1282	broad.mit.edu	37	13	110814762	110814762	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:110814762C>A	ENST00000375820.4	-	48	4398	c.4277G>T	c.(4276-4278)gGc>gTc	p.G1426V	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1426	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.G1426V(1)|p.G1069V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCATCGGGGCCTGGTGGACC	0.502000													28	188					5.77227e-19	1.07815e-18	0.037714	1	0
SCRN1	9805	broad.mit.edu	37	7	29980336	29980336	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:29980336T>A	ENST00000426154.1	-	5	877	c.701A>T	c.(700-702)gAc>gTc	p.D234V	SCRN1_ENST00000409497.1_Missense_Mutation_p.D234V|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.D234V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	234					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.D254V(1)|p.D234V(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						AGCACCGCAGTCTAGATGATC	0.488000													35	104					0	0	0.015359	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882376	228882376	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:228882376G>T	ENST00000392056.3	-	7	3240	c.3194C>A	c.(3193-3195)cCc>cAc	p.P1065H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1065H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1065						cytoplasm	protein binding	p.P1065H(2)		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)		CCGATTCCGGGGATAGCCCTG	0.562000													7	69					1.06961e-07	1.43944e-07	0.003080	1	0
DPYSL3	1809	broad.mit.edu	37	5	146788307	146788307	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:146788307A>T	ENST00000343218.5	-	7	1213	c.1016T>A	c.(1015-1017)cTg>cAg	p.L339Q	DPYSL3_ENST00000398514.3_Missense_Mutation_p.L225Q|DPYSL3_ENST00000534907.1_Intron	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	225					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	p.L225Q(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCTGCTCAGTACATGGCC	0.438000													19	90					0	0	0.012319	0	0
HGF	3082	broad.mit.edu	37	7	81359038	81359038	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:81359038C>A	ENST00000222390.5	-	8	1149	c.923G>T	c.(922-924)gGt>gTt	p.G308V	HGF_ENST00000457544.2_Missense_Mutation_p.G303V	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	308	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.G308V(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCTCCTTGACCTTGGATGCA	0.398000													12	116					0.000151284	0.000175441	0.016723	1	0
ALOX12	239	broad.mit.edu	37	17	6902727	6902727	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:6902727G>A	ENST00000251535.6	+	6	802	c.749G>A	c.(748-750)aGg>aAg	p.R250K	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_3'UTR|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000574377.1_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	250	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	p.R250K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CTGCCCTCCAGGCTAGTGCTG	0.557000													7	72					0	0	0.033300	0	0
TRIML1	339976	broad.mit.edu	37	4	189061091	189061091	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:189061091C>A	ENST00000332517.3	+	1	519	c.379C>A	c.(379-381)Ctc>Atc	p.L127I		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	127					multicellular organismal development		ligase activity|zinc ion binding	p.L127I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGAGTGCATCTCTCCAGCGA	0.582000													24	66					4.2108e-06	5.27364e-06	0.009535	1	0
LRP1	4035	broad.mit.edu	37	12	57589477	57589477	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:57589477G>T	ENST00000243077.3	+	53	8940	c.8474G>T	c.(8473-8475)tGc>tTc	p.C2825F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2825	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.C2825L(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGTTCATGTGCCAGAACCGC	0.617000													25	74					6.32553e-13	1.05291e-12	0.024334	1	0
PRAMEF7	441871	broad.mit.edu	37	1	12979865	12979865	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:12979865C>A	ENST00000361079.2	+	4	1140	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M						PRAME family member 7									p.L353M(1)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCAGACCCTGGACTTAGA	0.587000													11	99					9.16793e-09	1.29126e-08	0.033300	1	0
C19orf47	126526	broad.mit.edu	37	19	40832377	40832377	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:40832377C>A	ENST00000582783.1	-	7	579	c.567G>T	c.(565-567)cgG>cgT	p.R189R	C19orf47_ENST00000392035.2_Silent_p.R122R	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	189								p.R189R(2)|p.R122R(2)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCTCCTCCTCCCGGCGGGCCA	0.607000													13	40					6.31663e-08	8.58956e-08	0.024245	1	0
FNDC7	163479	broad.mit.edu	37	1	109270669	109270669	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:109270669C>T	ENST00000370017.3	+	7	1628	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	FNDC7_ENST00000271311.2_Missense_Mutation_p.P452S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	452	Fibronectin type-III 5.					extracellular region		p.P218S(1)|p.P451S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTCATGTACTCCCCAGTTCAT	0.488000													26	191					0	0	0.030593	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457982	45457982	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:45457982C>A	ENST00000548424.1	+	0	448																											TGTCACAGCCCAAGATCCTAT	0.453000													24	84					7.4402e-23	1.46107e-22	0.021523	1	0
CHRM3	1131	broad.mit.edu	37	1	240070814	240070814	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:240070814A>T	ENST00000255380.4	+	5	842	c.63A>T	c.(61-63)atA>atT	p.I21I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	21					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.I21I(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCCTGGATACACAGCCCCT	0.522000													28	106					0	0	0.009535	0	0
KIAA0247	9766	broad.mit.edu	37	14	70175482	70175482	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:70175482G>T	ENST00000342745.4	+	5	860	c.547G>T	c.(547-549)Ggc>Tgc	p.G183C		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	183						integral to membrane		p.G183C(1)		endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GGCTGTATATGGCAGTTCTGG	0.587000													21	155					8.10497e-08	1.09527e-07	0.010504	1	0
DSCAM	1826	broad.mit.edu	37	21	41684194	41684194	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:41684194T>C	ENST00000400454.1	-	9	2353	c.1876A>G	c.(1876-1878)Atc>Gtc	p.I626V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	626	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.I626V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGATCGTGATGGGTAAGTCC	0.522000													7	67					0	0	0.029380	0	0
TMEM130	222865	broad.mit.edu	37	7	98445783	98445783	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:98445783C>T	ENST00000450876.1	-	8	2231	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	TMEM130_ENST00000339375.4_Missense_Mutation_p.G390R|TMEM130_ENST00000345589.4_Missense_Mutation_p.G288R|TMEM130_ENST00000416379.2_Missense_Mutation_p.G402R|TMEM130_ENST00000546258.1_Missense_Mutation_p.G371R			Q8N3G9	TM130_HUMAN	transmembrane protein 130	402						Golgi membrane|integral to membrane		p.G390R(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGAAAGGCCCACAGCACATC	0.522000													32	79					0	0	0.012213	0	0
FRG2B	441581	broad.mit.edu	37	10	135440169	135440169	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:135440169C>A	ENST00000443774.1	-	1	127	c.78G>T	c.(76-78)caG>caT	p.Q26H	FRG2B_ENST00000425520.1_Missense_Mutation_p.Q26H			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	26						nucleus		p.Q26H(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TAAAGGAGATCTGTTGGAAAG	0.493000													9	261					0.00136819	0.00149971	0.013537	1	0
IMPG1	3617	broad.mit.edu	37	6	76744429	76744429	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:76744429C>A	ENST00000369963.3	-	2	332	c.143G>T	c.(142-144)tGg>tTg	p.W48L	IMPG1_ENST00000369950.3_Missense_Mutation_p.W126L			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	126					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.W126V(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GATGCTGACCCAGTCCTGATA	0.498000													35	64					1.04352e-10	1.60731e-10	0.017118	1	0
ANO5	203859	broad.mit.edu	37	11	22272361	22272361	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:22272361G>T	ENST00000324559.8	+	11	1405	c.1088G>T	c.(1087-1089)tGg>tTg	p.W363L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	363						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.W363L(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTGATTATTGGAGACTAAAT	0.378000													6	95					0.000157383	0.0001809	0.003080	1	0
RAB9B	51209	broad.mit.edu	37	X	103080189	103080189	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:103080189C>G	ENST00000243298.2	-	3	810	c.526G>C	c.(526-528)Gag>Cag	p.E176Q		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	176					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	p.E176Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						AGCTGTTCCTCTACAGCCAGC	0.463000													27	198					0	0	0.030593	0	0
GCNT2	2651	broad.mit.edu	37	6	10626804	10626804	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:10626804G>T	ENST00000379597.3	+	3	1729	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	GCNT2_ENST00000410107.1_Missense_Mutation_p.Q105H|GCNT2_ENST00000316170.3_Missense_Mutation_p.Q389H|GCNT2_ENST00000265012.4_Missense_Mutation_p.Q391H|GCNT2_ENST00000397423.2_3'UTR|GCNT2_ENST00000495262.1_Missense_Mutation_p.Q391H			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	391						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Q391H(2)|p.Q389H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CCCTCAATCAGAGTGAAACTG	0.453000													27	45					1.42536e-11	2.27079e-11	0.024334	1	0
GADL1	339896	broad.mit.edu	37	3	30842529	30842529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:30842529C>A	ENST00000454381.3	-	12	1148	c.1102G>T	c.(1102-1104)Gat>Tat	p.D368Y	GADL1_ENST00000282538.5_Missense_Mutation_p.D368Y			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	368					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.D368Y(1)|p.D184Y(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TAGAATTTATCCTGCTGGAAG	0.403000													7	65					0.00198382	0.00215994	0.029380	1	0
NETO1	81832	broad.mit.edu	37	18	70451059	70451059	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:70451059C>A	ENST00000327305.6	-	7	1379	c.722G>T	c.(721-723)aGt>aTt	p.S241I	NETO1_ENST00000299430.2_Missense_Mutation_p.S240I|NETO1_ENST00000583169.1_Missense_Mutation_p.S241I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	241	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S241I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTCCACGGAACTGCTTCCATC	0.433000													12	107					9.31168e-06	1.15068e-05	0.016723	1	0
CNTD2	79935	broad.mit.edu	37	19	40730644	40730644	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:40730644C>G	ENST00000430325.2	-	2	390	c.342G>C	c.(340-342)tgG>tgC	p.W114C	CNTD2_ENST00000433940.1_Intron|CNTD2_ENST00000513948.1_Missense_Mutation_p.W8C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	114					regulation of cyclin-dependent protein kinase activity		protein kinase binding	p.W114C(1)		lung(1)|prostate(1)	2						CCTGGACCAGCCAGTCTACCA	0.692000													4	1					0	0	0.014758	0	0
IGFBP1	3484	broad.mit.edu	37	7	45931536	45931536	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:45931536C>A	ENST00000275525.3	+	3	821	c.525C>A	c.(523-525)ccC>ccA	p.P175P	IGFBP1_ENST00000468955.1_Intron|IGFBP1_ENST00000457280.1_Silent_p.P175P	NM_000596.2	NP_000587.1	P08833	IBP1_HUMAN	insulin-like growth factor binding protein 1	175	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding	p.P175P(1)		large_intestine(2)|lung(4)	6						CTTAGGAGCCCTGCCGAATAG	0.418000											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	47					3.41278e-10	5.15886e-10	0.033300	1	0
CAPN2	824	broad.mit.edu	37	1	223934731	223934731	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:223934731G>T	ENST00000295006.5	+	5	902	c.593G>T	c.(592-594)gGt>gTt	p.G198V	CAPN2_ENST00000433674.2_Missense_Mutation_p.G120V	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	198	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane		p.G198V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CTATCAGGGGGTGCCACCACT	0.517000													38	189					2.75727e-19	5.19486e-19	0.021022	1	0
SLC12A5	57468	broad.mit.edu	37	20	44675012	44675012	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:44675012C>T	ENST00000454036.1	+	14	1869	c.1793C>T	c.(1792-1794)gCc>gTc	p.A598V	SLC12A5_ENST00000243964.3_Missense_Mutation_p.A575V|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	598					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.A575V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGAATCTGGCCTGTGCAGTG	0.547000													27	52					0	0	0.037714	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399621	90399621	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:90399621G>T	ENST00000337338.5	+	3	1401	c.994G>T	c.(994-996)Gca>Tca	p.A332S	LRRC8D_ENST00000394593.3_Missense_Mutation_p.A332S	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	332						integral to membrane	protein binding	p.A332S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CTTTGTCAACGCAATCAGCTT	0.393000													15	128					6.72482e-11	1.04075e-10	0.024245	1	0
MMP2	4313	broad.mit.edu	37	16	55530894	55530894	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:55530894C>T	ENST00000219070.4	+	10	2038	c.1529C>T	c.(1528-1530)gCc>gTc	p.A510V	MMP2_ENST00000543485.1_Missense_Mutation_p.A434V|MMP2_ENST00000437642.2_Missense_Mutation_p.A460V|MMP2_ENST00000570308.1_Missense_Mutation_p.A434V	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	510	Hemopexin-like 1.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.A510V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CTGCTGGTGGCCACATTCTGG	0.592000													17	88					0	0	0.033300	0	0
SP110	3431	broad.mit.edu	37	2	231065682	231065682	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:231065682C>A	ENST00000258381.6	-	10	1126		c.e10-1		SP110_ENST00000258382.5_Splice_Site|SP110_ENST00000358662.4_Splice_Site|SP110_ENST00000338556.3_Splice_Site|SP110_ENST00000392048.3_Splice_Site|SP110_ENST00000540870.1_Splice_Site	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.?(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCAATGATCTCTGGAAAATGA	0.468000													25	165					1.66031e-10	2.53631e-10	0.021523	1	0
TRHR	7201	broad.mit.edu	37	8	110099840	110099840	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:110099840C>T	ENST00000518632.1	+	2	450	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TRHR_ENST00000311762.2_Silent_p.L33L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	33						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.L33L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TACTTGTACTCATTATTTGTG	0.498000													8	140					0	0	0.004482	0	0
PID1	55022	broad.mit.edu	37	2	229890732	229890732	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:229890732C>T	ENST00000392054.3	-	4	702	c.363G>A	c.(361-363)acG>acA	p.T121T	PID1_ENST00000409462.1_Silent_p.T41T|PID1_ENST00000392055.3_Silent_p.T90T|PID1_ENST00000354069.6_Silent_p.T123T|PID1_ENST00000482518.2_Intron	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	123	PID.					cytoplasm		p.T121T(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCGGGCTAGCGTGTGCTTCT	0.547000													17	87					0	0	0.033300	0	0
CDH5	1003	broad.mit.edu	37	16	66436898	66436898	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:66436898G>T	ENST00000341529.3	+	12	2329	c.2181G>T	c.(2179-2181)acG>acT	p.T727T	CDH5_ENST00000539168.1_Silent_p.T166T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	727					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.T727T(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCTACGACACGCTGCACATCT	0.652000													7	17					2.80697e-09	4.05002e-09	0.010729	1	0
FSHR	2492	broad.mit.edu	37	2	49190729	49190729	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:49190729T>C	ENST00000406846.2	-	10	1350	c.1231A>G	c.(1231-1233)Att>Gtt	p.I411V	FSHR_ENST00000346173.3_Missense_Mutation_p.I349V|FSHR_ENST00000541117.1_Missense_Mutation_p.I147V|FSHR_ENST00000304421.4_Missense_Mutation_p.I385V	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	411					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.I411V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAGATTCCAATGCAGAGATCA	0.473000									Gonadal Dysgenesis, 46 XX				19	101					0	0	0.010504	0	0
CTAGE5	4253	broad.mit.edu	37	14	39796221	39796221	+	Missense_Mutation	SNP	C	C	T	rs149036910	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:39796221C>T	ENST00000553728.1	+	24	3644	c.3431C>T	c.(3430-3432)cCg>cTg	p.P1144L	CTAGE5_ENST00000396165.4_Missense_Mutation_p.P580L|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P534L|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P609L|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P609L|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P597L|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P580L|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P614L|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P566L|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P529L|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P580L														p.P609L(1)									ATGTTTCCTCCGCCAGGTATG	0.468000													15	57					0	0	0.028581	0	0
FAHD2B	151313	broad.mit.edu	37	2	97749976	97749976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:97749976C>A	ENST00000414820.1	-	7	994	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	FAHD2B_ENST00000440566.2_Nonsense_Mutation_p.E242*|FAHD2B_ENST00000272610.3_Nonsense_Mutation_p.E242*			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	242							hydrolase activity|metal ion binding	p.E242*(1)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						TGGACGACTTCCCCATTCACT	0.522000													24	155					4.59853e-10	6.89514e-10	0.027356	1	0
FOLH1	2346	broad.mit.edu	37	11	49168457	49168457	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:49168457C>T	ENST00000340334.7	-	20	2427	c.2059G>A	c.(2059-2061)Ggg>Agg	p.G687R	FOLH1_ENST00000343844.4_Missense_Mutation_p.G394R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G671R|FOLH1_ENST00000256999.2_Missense_Mutation_p.G702R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G656R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	702					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.G702R(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AATGACTCCCCTGCATACTTG	0.423000													32	101					0	0	0.010771	0	0
GPR158	57512	broad.mit.edu	37	10	25886893	25886893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:25886893G>T	ENST00000376351.3	+	11	2697	c.2338G>T	c.(2338-2340)Ggc>Tgc	p.G780C	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	780						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G780C(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CGCCGACCATGGCACAGCCAA	0.562000													28	118					7.38237e-10	1.10058e-09	0.030593	1	0
IGKV6-21	28906	broad.mit.edu	37	2	89459364	89459364	+	RNA	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:89459364G>A	ENST00000390256.2	-	0	276																											AGAAGGACTGGGAAGCATACT	0.532000													22	144					0	0	0.010504	0	0
KLHDC10	23008	broad.mit.edu	37	7	129770576	129770576	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:129770576G>T	ENST00000335420.5	+	10	1453	c.1319G>T	c.(1318-1320)cGc>cTc	p.R440L		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	440								p.R440L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTCATCGAACGCTTGAAATGA	0.453000													33	135					1.836e-18	3.4e-18	0.017118	1	0
MEGF8	1954	broad.mit.edu	37	19	42880607	42880607	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:42880607G>T	ENST00000334370.4	+	41	8652	c.8017G>T	c.(8017-8019)Gcc>Tcc	p.A2673S	MEGF8_ENST00000378073.4_Missense_Mutation_p.A334S|MEGF8_ENST00000251268.6_Missense_Mutation_p.A2740S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2740						integral to membrane	calcium ion binding|structural molecule activity	p.A2673S(1)|p.A2281S(1)|p.A2740S(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGACAGGGGCCGGTGGGCC	0.736000													7	8					9.70103e-10	1.43637e-09	0.008291	1	0
NAIP	4671	broad.mit.edu	37	5	70308462	70308462	+	Missense_Mutation	SNP	C	C	G	rs147757754		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:70308462C>G	ENST00000517649.1	-	4	571	c.281G>C	c.(280-282)gGg>gCg	p.G94A	NAIP_ENST00000508426.2_Missense_Mutation_p.G94A|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.G94A|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	94					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.G94E(1)|p.G94A(1)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCACTGAATCCCAGATTTTAC	0.493000													9	94					0	0	0.004482	0	0
TCF23	150921	broad.mit.edu	37	2	27373132	27373132	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:27373132G>T	ENST00000296096.5	+	2	494	c.364G>T	c.(364-366)Gcc>Tcc	p.A122S		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	122	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		p.A122S(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGCTCGCCGCCAGCTACAT	0.672000													134	227					1.45148e-71	3.10349e-71	0.014410	1	0
MS4A6A	64231	broad.mit.edu	37	11	59943065	59943065	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:59943065C>A	ENST00000528851.1	-	5	499	c.359G>T	c.(358-360)gGa>gTa	p.G120V	MS4A6A_ENST00000420732.2_Missense_Mutation_p.G120V|MS4A6A_ENST00000530839.1_Missense_Mutation_p.G120V|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G148V|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G148V|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G75V|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G120V|MS4A6A_ENST00000533023.1_Missense_Mutation_p.G56V			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	120						integral to membrane	receptor activity	p.G120V(1)|p.G148V(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATGCTTCCAACCAGGCT	0.438000													7	56					0.00448238	0.0048118	0.004482	1	0
UBAP2L	9898	broad.mit.edu	37	1	154224000	154224000	+	Nonsense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:154224000C>G	ENST00000428931.1	+	14	1702	c.1535C>G	c.(1534-1536)tCa>tGa	p.S512*	UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.S512*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.S512*|UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.S523*	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	512					binding of sperm to zona pellucida		protein binding	p.S512*(2)|p.S8*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAGATATCTCAGGGCTAAAC	0.488000													5	378					0	0	0.014758	0	0
GATA5	140628	broad.mit.edu	37	20	61050150	61050150	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:61050150G>A	ENST00000252997.2	-	2	489	c.428C>T	c.(427-429)cCg>cTg	p.P143L		NM_080473.4	NP_536721.1	Q9BWX5	GATA5_HUMAN	GATA binding protein 5	143					blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			kidney(1)|lung(3)|ovary(1)|stomach(1)	6	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;3.08e-06)			CACGTAGGCCGGGTAGGTGGC	0.726000													3	7					0	0	0.004672	0	0
TTC21A	199223	broad.mit.edu	37	3	39162666	39162666	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:39162666T>A	ENST00000301819.6	+	9	1280	c.1103T>A	c.(1102-1104)aTg>aAg	p.M368K	TTC21A_ENST00000440121.1_Missense_Mutation_p.M319K|TTC21A_ENST00000431162.2_Missense_Mutation_p.M368K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	368							binding	p.M368N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		AAGGATGGCATGGCTGGTTTG	0.542000													5	60					0	0	0.021553	0	0
ZFP57	346171	broad.mit.edu	37	6	29640985	29640985	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:29640985C>A	ENST00000376883.1	-	6	1254	c.843G>T	c.(841-843)caG>caT	p.Q281H	ZFP57_ENST00000376881.3_Missense_Mutation_p.Q281H|ZFP57_ENST00000488757.1_Missense_Mutation_p.Q301H			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	217					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.Q281H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGAATTCAGCCTGGGTGCCTG	0.547000													53	293					3.68337e-26	7.41236e-26	0.014410	1	0
DMTF1	9988	broad.mit.edu	37	7	86820288	86820288	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:86820288A>T	ENST00000414194.2	+	14	2433	c.641A>T	c.(640-642)gAc>gTc	p.D214V	DMTF1_ENST00000394703.5_Missense_Mutation_p.D480V|DMTF1_ENST00000413276.2_Missense_Mutation_p.D410V|DMTF1_ENST00000432937.2_Missense_Mutation_p.D392V|DMTF1_ENST00000331242.7_Missense_Mutation_p.D480V			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	480	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D480V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GCTACCGTTGACTCAGAAACA	0.353000													4	29					0	0	0.009096	0	0
NDUFAF4	29078	broad.mit.edu	37	6	97338990	97338990	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:97338990C>A	ENST00000316149.7	-	3	597	c.518G>T	c.(517-519)cGa>cTa	p.R173L		NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	173					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding	p.R173L(1)		large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCATTTTGATCGTATTGCTTT	0.323000													4	25					0.00024832	0.000282924	0.009096	1	0
DCLRE1A	9937	broad.mit.edu	37	10	115609774	115609774	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:115609774T>A	ENST00000361384.2	-	2	2007	c.1090A>T	c.(1090-1092)Agc>Tgc	p.S364C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S364C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	364					cell division|mitosis	nucleus	hydrolase activity	p.S364C(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTAAGAAGCTGTTCACTTTG	0.398000								Other identified genes with known or suspected DNA repair function					32	147					0	0	0.017118	0	0
LIG1	3978	broad.mit.edu	37	19	48664733	48664733	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:48664733A>T	ENST00000263274.7	-	4	558	c.139T>A	c.(139-141)Tcc>Acc	p.S47T	LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000536218.1_Missense_Mutation_p.S47T|LIG1_ENST00000427526.2_Missense_Mutation_p.S17T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	47					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.S47T(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCACTCTCGGACACCACTCCA	0.632000								Nucleotide excision repair (NER)					74	202					0	0	0.014410	0	0
OR52N5	390075	broad.mit.edu	37	11	5799305	5799305	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5799305T>A	ENST00000317093.2	-	1	592	c.560A>T	c.(559-561)tAc>tTc	p.Y187F	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y187F(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GTGGTCGCAGTACGTATGGGA	0.443000													12	79					0	0	0.010729	0	0
URGCP	55665	broad.mit.edu	37	7	43918845	43918845	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:43918845G>A	ENST00000336086.6	-	4	2324	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L30F|URGCP_ENST00000402306.3_Missense_Mutation_p.L64F|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L30F|URGCP_ENST00000453200.1_Missense_Mutation_p.L73F|URGCP_ENST00000223341.7_Missense_Mutation_p.L30F			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	73					cell cycle	centrosome|nucleus	GTP binding	p.L30F(1)|p.L73F(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTTCTTGAAGCCTGCTTCTC	0.507000													19	134					0	0	0.010504	0	0
ADCY1	107	broad.mit.edu	37	7	45726179	45726179	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:45726179G>T	ENST00000297323.7	+	14	2383	c.2361G>T	c.(2359-2361)ccG>ccT	p.P787P		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	787					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.P787P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCTACGAGCCGATTGTGGCCA	0.627000													24	48					2.48779e-11	3.91542e-11	0.027356	1	0
MYH11	4629	broad.mit.edu	37	16	15831439	15831439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:15831439C>A	ENST00000338282.6	-	25	3266	c.3160G>T	c.(3160-3162)Gag>Tag	p.E1054*	MYH11_ENST00000576790.1_Nonsense_Mutation_p.E1054*|MYH11_ENST00000452625.2_Nonsense_Mutation_p.E1061*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.E1061*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.E1054*	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1054					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.E1061*(1)|p.E1054*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTCAGCTTCTCCAGCTCCTGT	0.582000			T	CBFB	AML								17	137					2.4624e-09	3.57667e-09	0.008871	1	0
MUC16	94025	broad.mit.edu	37	19	9049809	9049809	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9049809G>A	ENST00000397910.4	-	5	32025	c.31822C>T	c.(31822-31824)Cca>Tca	p.P10608S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10610	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P10608S(1)|p.P6241S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAACAGTTGGGATGGTCTCT	0.478000													11	129					0	0	0.010729	0	0
OR1C1	26188	broad.mit.edu	37	1	247921090	247921090	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:247921090C>G	ENST00000408896.2	-	1	892	c.619G>C	c.(619-621)Gct>Cct	p.A207P		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCGTGAGAGCCAATAGACCT	0.463000													7	45					0	0	0.029380	0	0
ENGASE	64772	broad.mit.edu	37	17	77081425	77081425	+	Splice_Site	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:77081425G>A	ENST00000579016.1	+	12	1700		c.e12+1			NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase							cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.?(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGTCCAGCAGTAAGTCCCTC	0.672000													12	63					0	0	0.016723	0	0
SH3TC2	79628	broad.mit.edu	37	5	148427439	148427439	+	Missense_Mutation	SNP	G	G	A	rs142488510	by1000genomes	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:148427439G>A	ENST00000515425.1	-	3	366	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R89C	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	89							binding	p.R89C(3)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCATGCGCACCTCCTGG	0.532000													19	134					0	0	0.006122	0	0
TSPAN16	26526	broad.mit.edu	37	19	11408976	11408976	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:11408976G>T	ENST00000316737.1	+	2	378	c.228G>T	c.(226-228)tgG>tgT	p.W76C	TSPAN16_ENST00000592955.1_Missense_Mutation_p.W76C|TSPAN16_ENST00000590327.1_Missense_Mutation_p.W76C	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	76						integral to membrane		p.W76C(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GTGCCGGGTGGTATGGAGCGA	0.542000													6	68					0.00116845	0.00128618	0.021553	1	0
MUC16	94025	broad.mit.edu	37	19	9061051	9061051	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9061051G>T	ENST00000397910.4	-	3	26598	c.26395C>A	c.(26395-26397)Caa>Aaa	p.Q8799K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8801	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.Q8799K(2)|p.Q4432K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGTACCTTGTGAGGATGCC	0.517000													50	118					4.00472e-15	7.02582e-15	0.014410	1	0
SNIP1	79753	broad.mit.edu	37	1	38006165	38006165	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:38006165C>A	ENST00000296215.6	-	3	591	c.519G>T	c.(517-519)caG>caT	p.Q173H	SNIP1_ENST00000468040.1_5'UTR	NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	173	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.Q173H(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				CTTCCTGAGCCTGCAGGTTCT	0.597000													17	164					1.56452e-12	2.56803e-12	0.007413	1	0
MGAT5B	146664	broad.mit.edu	37	17	74944851	74944851	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:74944851G>T	ENST00000569840.2	+	18	2884	c.2310G>T	c.(2308-2310)aaG>aaT	p.K770N	MGAT5B_ENST00000301618.4_Missense_Mutation_p.K768N|MGAT5B_ENST00000428789.2_Missense_Mutation_p.K779N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	770						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.K768N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAACACCAAGTACCGCCGGC	0.677000													7	9					6.40141e-05	7.53789e-05	0.010729	1	0
CDH10	1008	broad.mit.edu	37	5	24537671	24537671	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:24537671C>A	ENST00000264463.4	-	3	851	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	115	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R115M(1)		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)		ATCAATTCGCCTTGTGGCATG	0.403000										HNSCC(23;0.051)			14	35					0.000219431	0.000251775	0.020292	1	0
KCNQ2	3785	broad.mit.edu	37	20	62046273	62046273	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:62046273G>A	ENST00000354587.3	-	11	1600	c.1424C>T	c.(1423-1425)tCa>tTa	p.S475L	KCNQ2_ENST00000359125.2_Missense_Mutation_p.S503L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.S473L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S485L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.S475L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.S463L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S503L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S475L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.S473L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S475L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	503					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.S503L(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTTCTGCCGTGACGCGGCACC	0.667000													21	257					0	0	0.012319	0	0
MMP26	56547	broad.mit.edu	37	11	5011951	5011951	+	Silent	SNP	C	C	T	rs144183012		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5011951C>T	ENST00000380390.1	+	4	660	c.444C>T	c.(442-444)gaC>gaT	p.D148D	MMP26_ENST00000300762.1_Silent_p.D148D			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	148					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.D148D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGATGCAGACATCAAGGTTT	0.423000													9	87					0	0	0.006214	0	0
ABCA12	26154	broad.mit.edu	37	2	215880350	215880350	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:215880350G>C	ENST00000272895.7	-	15	2039	c.1820C>G	c.(1819-1821)aCt>aGt	p.T607S	ABCA12_ENST00000389661.4_Missense_Mutation_p.T289S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	607					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.T607S(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGATATTAGTATCACAGGA	0.413000													15	83					0	0	0.024245	0	0
TNFSF8	944	broad.mit.edu	37	9	117666507	117666507	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:117666507C>A	ENST00000223795.2	-	4	522	c.409G>T	c.(409-411)Ggt>Tgt	p.G137C	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	137					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.G137C(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						AAGTACAAACCAGGGAATTGG	0.403000													20	154					3.51602e-12	5.70639e-12	0.008871	1	0
DDX31	64794	broad.mit.edu	37	9	135521285	135521285	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:135521285C>A	ENST00000372159.3	-	13	1843	c.1692G>T	c.(1690-1692)caG>caT	p.Q564H	DDX31_ENST00000438527.3_Missense_Mutation_p.Q435H|DDX31_ENST00000372153.1_Missense_Mutation_p.Q564H|DDX31_ENST00000310532.2_Missense_Mutation_p.Q564H	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	564	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.Q564H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TGCTCACCTCCTGCTCCATGC	0.607000													8	12					3.86212e-05	4.58516e-05	0.008291	1	0
ARHGAP25	9938	broad.mit.edu	37	2	69034414	69034414	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:69034414G>T	ENST00000295381.3	+	5	892	c.473G>T	c.(472-474)gGc>gTc	p.G158V	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G159V|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G119V|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.G133V|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G152V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G151V|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.G152V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	158					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.G152V(1)|p.G159V(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAGTGTTTGGCCAGCGCTTG	0.522000													9	51					2.74318e-10	4.17092e-10	0.006214	1	0
CD207	50489	broad.mit.edu	37	2	71058870	71058870	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:71058870C>A	ENST00000410009.3	-	5	843	c.798G>T	c.(796-798)tgG>tgT	p.W266C		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	266	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	p.W266_V267>CL(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TGTCATCCACCCAGGACCAGT	0.557000													17	139					1.5739e-10	2.41852e-10	0.028581	1	0
UNC79	57578	broad.mit.edu	37	14	94088826	94088826	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94088826C>A	ENST00000553484.1	+	31	5467	c.5313C>A	c.(5311-5313)ctC>ctA	p.L1771L	UNC79_ENST00000393151.2_Silent_p.L1749L|UNC79_ENST00000555664.1_Silent_p.L1749L|UNC79_ENST00000256339.4_Silent_p.L1572L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1749						integral to membrane		p.L1572L(1)|p.L1771L(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AACGAGACCTCCTTCAGAAGT	0.592000													18	127					6.94344e-10	1.03872e-09	0.006122	1	0
SENP6	26054	broad.mit.edu	37	6	76376442	76376442	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:76376442G>A	ENST00000370014.3	+	10	1628	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	SENP6_ENST00000370010.2_Missense_Mutation_p.D330N|SENP6_ENST00000447266.2_Missense_Mutation_p.D337N|SENP6_ENST00000327284.8_Missense_Mutation_p.D330N	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	337					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.D337N(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTTGTCCAGTGATGATGATGA	0.308000													5	47					0	0	0.021553	0	0
NUDCD1	84955	broad.mit.edu	37	8	110255375	110255375	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:110255375C>G	ENST00000239690.4	-	10	1989	c.1615G>C	c.(1615-1617)Gta>Cta	p.V539L	NUDCD1_ENST00000427660.2_Missense_Mutation_p.V510L	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	539								p.V539L(1)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ACCTGTCCTACTTGCCTGCCT	0.443000													14	200					0	0	0.033300	0	0
DEF8	54849	broad.mit.edu	37	16	90025465	90025465	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:90025465A>T	ENST00000563594.1	+	6	1413	c.416A>T	c.(415-417)cAc>cTc	p.H139L	DEF8_ENST00000567874.1_Missense_Mutation_p.H79L|DEF8_ENST00000570182.1_Missense_Mutation_p.H129L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000268676.7_Missense_Mutation_p.H200L|DEF8_ENST00000569453.1_Missense_Mutation_p.H139L|DEF8_ENST00000563795.1_Missense_Mutation_p.H139L|DEF8_ENST00000418391.2_Missense_Mutation_p.H139L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	200					intracellular signal transduction		zinc ion binding	p.H200L(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CTCCTTGAGCACCGCTTTTAC	0.552000													65	165					0	0	0.014410	0	0
UBE2O	63893	broad.mit.edu	37	17	74398726	74398726	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:74398726C>T	ENST00000319380.7	-	4	707	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	215							ATP binding|ubiquitin-protein ligase activity	p.D215N(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTTCAAGTCGTAGACCTTC	0.547000													39	253					0	0	0.036044	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460556	5460556	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:5460556A>G	ENST00000296564.7	+	13	1331	c.1109A>G	c.(1108-1110)tAc>tGc	p.Y370C		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	370								p.Y370C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAGGAAACCTACTTTGGAGAA	0.313000													3	30					0	0	0.004672	0	0
CHN2	1124	broad.mit.edu	37	7	29407582	29407582	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:29407582G>C	ENST00000222792.6	+	3	653	c.123G>C	c.(121-123)aaG>aaC	p.K41N	CHN2_ENST00000495789.2_Missense_Mutation_p.K54N|CHN2_ENST00000435288.2_Missense_Mutation_p.K41N|CHN2_ENST00000546235.1_Missense_Mutation_p.K26N|CHN2_ENST00000539389.1_Missense_Mutation_p.K41N|CHN2_ENST00000539406.1_Missense_Mutation_p.K116N	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	41					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CTCGTCCCAAGAGAATCATTT	0.403000													3	54					0	0	0.004672	0	0
CACNA1H	8912	broad.mit.edu	37	16	1255228	1255228	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:1255228C>A	ENST00000348261.5	+	11	2814	c.2566C>A	c.(2566-2568)Ccg>Acg	p.P856T	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P856T|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P856T	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	856					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.P856T(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCCGGAACCCGTACAACAT	0.592000													7	74					0.00448238	0.0048118	0.004482	1	0
FAM47A	158724	broad.mit.edu	37	X	34148158	34148158	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:34148158C>G	ENST00000346193.3	-	1	2289	c.2238G>C	c.(2236-2238)aaG>aaC	p.K746N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	746								p.K746N(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTCATAGCCCTTGCTTAGAA	0.413000													34	148					0	0	0.013726	0	0
LRP1B	53353	broad.mit.edu	37	2	141283458	141283458	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:141283458C>T	ENST00000389484.3	-	49	8952	c.7981G>A	c.(7981-7983)Ggg>Agg	p.G2661R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2661	LDL-receptor class A 14.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2661R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATTAGACCCGTCGCATATC	0.423000										TSP Lung(27;0.18)			5	33					0	0	0.021553	0	0
C17orf47	284083	broad.mit.edu	37	17	56621194	56621194	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:56621194G>T	ENST00000321691.3	-	1	535	c.354C>A	c.(352-354)agC>agA	p.S118R	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	118								p.S118R(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCATTGTCTGCTTGAAGCAT	0.552000													46	91					6.08268e-21	1.1663e-20	0.014410	1	0
OR2G6	391211	broad.mit.edu	37	1	248685011	248685011	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248685011C>G	ENST00000343414.4	+	1	96	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q22E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATCAGCCTCAGCTAGAGAG	0.448000													5	300					0	0	0.003080	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503661	90503661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:90503661C>A	ENST00000325643.5	+	4	4325	c.4259C>A	c.(4258-4260)cCa>cAa	p.P1420Q		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1									p.P1420Q(1)									CACCACAGGCCAAGAATGGCA	0.597000													6	77					0.00307968	0.003328	0.003080	1	0
SYT10	341359	broad.mit.edu	37	12	33559893	33559893	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:33559893G>T	ENST00000228567.3	-	3	1204	c.908C>A	c.(907-909)cCt>cAt	p.P303H	SYT10_ENST00000535526.1_Missense_Mutation_p.P122H	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	303	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P303H(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATATGCTACAGGAAATTGAAA	0.348000													12	34					0.000978159	0.00108222	0.010729	1	0
ZNF680	340252	broad.mit.edu	37	7	64004766	64004766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:64004766C>A	ENST00000309683.6	-	2	226	c.75G>T	c.(73-75)gaG>gaT	p.E25D	ZNF680_ENST00000447137.2_Missense_Mutation_p.E25D|ZNF680_ENST00000476563.1_Intron	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E25D(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATTGCCACTCCTCCAGAGAGA	0.423000													9	181					0.00448238	0.0048118	0.004482	1	0
GRM4	2914	broad.mit.edu	37	6	34024379	34024379	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:34024379G>T	ENST00000374181.3	-	5	1279	c.1110C>A	c.(1108-1110)ttC>ttA	p.F370L	GRM4_ENST00000538487.1_Missense_Mutation_p.F370L|GRM4_ENST00000544773.1_Missense_Mutation_p.F201L|GRM4_ENST00000535756.1_Missense_Mutation_p.F237L|GRM4_ENST00000455714.2_Missense_Mutation_p.F230L|GRM4_ENST00000374177.3_Intron|GRM4_ENST00000545715.1_Missense_Mutation_p.F62L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	370					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.F370_H371>LN(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTTGCAGTGGAAGTTGTCCT	0.652000													12	19					1.61879e-10	2.4758e-10	0.013537	1	0
MUC4	4585	broad.mit.edu	37	3	195507874	195507874	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:195507874G>T	ENST00000463781.3	-	2	11036	c.10577C>A	c.(10576-10578)aCt>aAt	p.T3526N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	323					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.602000													3	11					0.00909568	0.00962114	0.009096	1	0
CPNE6	9362	broad.mit.edu	37	14	24546478	24546478	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:24546478G>C	ENST00000397016.2	+	16	1726	c.1415G>C	c.(1414-1416)gGc>gCc	p.G472A	CPNE6_ENST00000216775.2_Missense_Mutation_p.G472A|CPNE6_ENST00000537691.1_Missense_Mutation_p.G527A			O95741	CPNE6_HUMAN	copine VI (neuronal)	472	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	p.G472A(1)		endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTAGGCGTGGGCAATGCTGAC	0.637000													17	105					0	0	0.012319	0	0
FYTTD1	84248	broad.mit.edu	37	3	197495447	197495447	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:197495447C>G	ENST00000428395.2	+	4	533	c.100C>G	c.(100-102)Cta>Gta	p.L34V	FYTTD1_ENST00000241502.3_Missense_Mutation_p.L125V|FYTTD1_ENST00000424384.2_Missense_Mutation_p.L58V|FYTTD1_ENST00000415708.2_Missense_Mutation_p.L99V	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	125					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	p.L125V(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TCGTCCACCTCTAAGTGACAA	0.383000													5	71					0	0	0.014758	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47236504	47236504	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:47236504C>A	ENST00000300404.2	+	6	843	c.784C>A	c.(784-786)Cgg>Agg	p.R262R	B4GALNT2_ENST00000393354.2_Silent_p.R202R|B4GALNT2_ENST00000504681.1_Silent_p.R176R	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	262					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.R262R(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)			TACCAGTGACCGGAAGCTGTT	0.542000													33	345					2.04263e-09	2.99371e-09	0.019004	1	0
ITGA4	3676	broad.mit.edu	37	2	182346388	182346388	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:182346388C>A	ENST00000397033.2	+	7	1248	c.818C>A	c.(817-819)cCt>cAt	p.P273H		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	273					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.P273N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGAGGAGCTCCTCAACATGAG	0.373000													3	23					2.56e-06	3.22168e-06	0.009096	1	0
PGAP2	27315	broad.mit.edu	37	11	3844950	3844950	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:3844950A>T	ENST00000465307.2	+	4	293	c.155A>T	c.(154-156)aAg>aTg	p.K52M	PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Intron|PGAP2_ENST00000493547.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000278243.4_Intron|PGAP2_ENST00000479072.1_De_novo_Start_InFrame|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000463452.2_Intron			Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	0					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						AGGACCTGGAAGGAGAGGTCT	0.557000													5	42					0	0	0.014758	0	0
MAGI2	9863	broad.mit.edu	37	7	78131078	78131078	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:78131078C>T	ENST00000354212.4	-	5	1034	c.781G>A	c.(781-783)Gca>Aca	p.A261T	MAGI2_ENST00000535697.1_Missense_Mutation_p.A98T|MAGI2_ENST00000536571.1_Missense_Mutation_p.A93T|MAGI2_ENST00000522391.1_Missense_Mutation_p.A261T|MAGI2_ENST00000419488.1_Missense_Mutation_p.A261T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	261	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding	p.A261T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAGGCACCTGCACTTTTGTCT	0.493000													11	34					0	0	0.008291	0	0
KCNK10	54207	broad.mit.edu	37	14	88652099	88652099	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:88652099G>A	ENST00000340700.5	-	7	1848	c.1397C>T	c.(1396-1398)cCc>cTc	p.P466L	KCNK10_ENST00000319231.5_Missense_Mutation_p.P471L|KCNK10_ENST00000312350.5_Missense_Mutation_p.P471L	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	466					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P471L(2)|p.P466L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AACGTCCTCGGGCAAGGTCTT	0.502000													33	239					0	0	0.019004	0	0
OR2T12	127064	broad.mit.edu	37	1	248458805	248458805	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248458805A>G	ENST00000317996.1	-	1	75	c.76T>C	c.(76-78)Ttc>Ctc	p.F26L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGCATCATGAAGAGGACTTGG	0.493000													67	213					0	0	0.014410	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769110	15769110	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:15769110C>A	ENST00000221307.7	+	10	1200	c.1152C>A	c.(1150-1152)tgC>tgA	p.C384*	CYP4F3_ENST00000591058.1_Nonsense_Mutation_p.C384*|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Nonsense_Mutation_p.C384*|CYP4F3_ENST00000585846.1_Nonsense_Mutation_p.C384*	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	384					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.C384*(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGACCATGTGCATTAAGGAGA	0.592000													20	147					3.51602e-12	5.70639e-12	0.008871	1	0
MUC5B	727897	broad.mit.edu	37	11	1271501	1271501	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1271501G>A	ENST00000447027.1	+	31	13458	c.13400G>A	c.(13399-13401)gGa>gAa	p.G4467E	MUC5B_ENST00000529681.1_Missense_Mutation_p.G4464E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4464	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.G4464E(1)|p.G4419E(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCCACCGGATCCACGGCC	0.672000													25	74					0	0	0.014410	0	0
CSMD3	114788	broad.mit.edu	37	8	113323338	113323338	+	Missense_Mutation	SNP	C	C	A	rs141864545		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113323338C>A	ENST00000297405.5	-	50	7998	c.7754G>T	c.(7753-7755)gGt>gTt	p.G2585V	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2481V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2515V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2545V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2585	Sushi 14.					integral to membrane|plasma membrane		p.G2585F(1)|p.G2545F(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGCTGCCCACCTGTCTGACT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	136					5.35267e-07	7.02166e-07	0.007413	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864138	144864138	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:144864138G>C	ENST00000369359.4	-	39	6403	c.6365C>G	c.(6364-6366)tCc>tGc	p.S2122C	RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1986C|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2071C|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1880C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1986C			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1986					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S1986C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTTACCTGGAGTCGTTTTC	0.458000			T	PDGFRB	MPD								18	720					0	0	0.007413	0	0
CENPE	1062	broad.mit.edu	37	4	104067249	104067249	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:104067249T>C	ENST00000265148.3	-	30	4239	c.4150A>G	c.(4150-4152)Agc>Ggc	p.S1384G	CENPE_ENST00000380026.3_Missense_Mutation_p.S1359G	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1384					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.S1384G(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCTTGTTTGCTTTGAGACTCC	0.343000													11	31					0	0	0.008291	0	0
DEF8	54849	broad.mit.edu	37	16	90028432	90028432	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:90028432A>T	ENST00000563594.1	+	9	1817	c.820A>T	c.(820-822)Agc>Tgc	p.S274C	DEF8_ENST00000567874.1_Missense_Mutation_p.S214C|DEF8_ENST00000570182.1_Missense_Mutation_p.S264C|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000268676.7_Missense_Mutation_p.S335C|DEF8_ENST00000569453.1_Missense_Mutation_p.S274C|DEF8_ENST00000563795.1_Missense_Mutation_p.S274C	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	335					intracellular signal transduction		zinc ion binding	p.S335C(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTCTCGCTGCAGCATGCGCTA	0.652000													13	59					0	0	0.016723	0	0
NLRX1	79671	broad.mit.edu	37	11	119045171	119045171	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:119045171C>A	ENST00000409109.1	+	6	1446	c.859C>A	c.(859-861)Ctg>Atg	p.L287M	NLRX1_ENST00000409265.4_Missense_Mutation_p.L287M|NLRX1_ENST00000292199.2_Missense_Mutation_p.L287M|NLRX1_ENST00000409991.1_Missense_Mutation_p.L287M|NLRX1_ENST00000525863.1_Missense_Mutation_p.L287M			Q86UT6	NLRX1_HUMAN	NLR family member X1	287	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.L287M(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCCAGCATTCTGGTGACCAC	0.547000													41	266					2.54354e-34	5.26529e-34	0.036044	1	0
HSD11B1	3290	broad.mit.edu	37	1	209880128	209880128	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:209880128C>T	ENST00000367028.2	+	4	463	c.294C>T	c.(292-294)ttC>ttT	p.F98F	RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Silent_p.F98F|HSD11B1_ENST00000367027.3_Silent_p.F98F	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	98					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.A99P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ACATGACCTTCGCAGAGCAAT	0.527000													32	258					0	0	0.012213	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1619013	1619013	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:1619013G>A	ENST00000412090.1	-	1	511	c.468C>T	c.(466-468)agC>agT	p.S156S	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	156	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.S156S(1)		large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTTGCAGCAGCTGGACTGGC	0.602000													7	107					0	0	0.007413	0	0
POT1	25913	broad.mit.edu	37	7	124464130	124464130	+	Splice_Site	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:124464130T>A	ENST00000357628.3	-	19	2391		c.e19-2		POT1_ENST00000393329.1_Splice_Site	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1						DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.?(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GATATGCATCTACAAAAACAA	0.318000													6	10					0	0	0.021553	0	0
ZNF521	25925	broad.mit.edu	37	18	22805773	22805773	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:22805773G>A	ENST00000361524.3	-	4	2257	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F	ZNF521_ENST00000584787.1_Silent_p.F483F|ZNF521_ENST00000538137.2_Silent_p.F703F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	703					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.F703F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCACTGATGTGAATTGCTTGT	0.438000			T	PAX5	ALL								11	266					0	0	0.010729	0	0
EGR4	1961	broad.mit.edu	37	2	73520449	73520449	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:73520449G>A	ENST00000545030.1	-	1	380	c.306C>T	c.(304-306)cgC>cgT	p.R102R	EGR4_ENST00000436467.2_5'UTR	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	192						intracellular	nucleic acid binding|zinc ion binding	p.R102R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGAGCATGGCGCGGCGCCGGC	0.731000													5	13					0	0	0.004482	0	0
SEC61A2	55176	broad.mit.edu	37	10	12191875	12191875	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:12191875G>T	ENST00000379033.3	+	5	458	c.311G>T	c.(310-312)gGg>gTg	p.G104V	SEC61A2_ENST00000298428.9_Missense_Mutation_p.G126V|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G126V|SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379017.3_Missense_Mutation_p.G126V|SEC61A2_ENST00000379051.1_Missense_Mutation_p.G126V|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G126V	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	126						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.G126V(4)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ATTACCATTGGGCAAGCCATT	0.448000													19	119					0.000958276	0.00106475	0.007413	1	0
ZC3H3	23144	broad.mit.edu	37	8	144621345	144621345	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:144621345G>A	ENST00000262577.5	-	2	223	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	64					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S64S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCCATGGTGGGAAGAGTAGC	0.652000													127	149					0	0	0.014410	0	0
CPB1	1360	broad.mit.edu	37	3	148558510	148558510	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:148558510C>A	ENST00000491148.1	+	5	644	c.310C>A	c.(310-312)Cag>Aag	p.Q104K	CPB1_ENST00000282957.4_Missense_Mutation_p.Q104K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	104					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.Q104K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGTGGAGGCTCAGTTTGATAG	0.433000													25	79					9.39395e-14	1.60475e-13	0.030593	1	0
FSD2	123722	broad.mit.edu	37	15	83440921	83440921	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:83440921G>T	ENST00000334574.8	-	7	1352	c.1171C>A	c.(1171-1173)Cga>Aga	p.R391R	FSD2_ENST00000541889.1_Silent_p.R391R			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	391	Fibronectin type-III 1.							p.R391R(1)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CAGCACACTCGGACTGAGGAA	0.517000													5	19					0.00116845	0.00128618	0.021553	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22849092	22849092	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:22849092C>T	ENST00000283645.4	+	10	1269	c.1139C>T	c.(1138-1140)gCa>gTa	p.A380V	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A380V|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	380					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.A380V(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GAGGAACTTGCAGAAATTGAG	0.363000													6	47					0	0	0.029380	0	0
GRM8	2918	broad.mit.edu	37	7	126173450	126173450	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:126173450G>A	ENST00000339582.2	-	9	2794	c.1986C>T	c.(1984-1986)agC>agT	p.S662S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Silent_p.S662S|GRM8_ENST00000444921.2_Silent_p.S662S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	662					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.S662S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGGCTGCATAGCTGAAACACA	0.448000										HNSCC(24;0.065)			18	101					0	0	0.006122	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377384	113377384	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:113377384G>A	ENST00000316407.4	-	7	3555	c.3145C>T	c.(3145-3147)Cag>Tag	p.Q1049*	KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.Q1049*|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1049					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.Q1049*(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AATAGTTCCTGTTTGGGATGT	0.378000													29	161					0	0	0.009535	0	0
TMTC1	83857	broad.mit.edu	37	12	29904726	29904726	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:29904726G>A	ENST00000256062.5	-	5	960	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	TMTC1_ENST00000551659.1_Missense_Mutation_p.R271W|TMTC1_ENST00000552618.1_Missense_Mutation_p.R271W|TMTC1_ENST00000381224.2_Missense_Mutation_p.R163W|TMTC1_ENST00000539277.1_Missense_Mutation_p.R271W	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	271						integral to membrane	binding	p.R163W(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CCATTCTCCCGGTGAGGATGG	0.632000													5	63					0	0	0.014758	0	0
EFTUD2	9343	broad.mit.edu	37	17	42930912	42930912	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:42930912C>G	ENST00000426333.2	-	24	2736	c.2439G>C	c.(2437-2439)agG>agC	p.R813S	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R803S|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R813S|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R778S	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	813						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.R813S(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGACGACTCTCCTGGCTGTGG	0.572000													16	70					0	0	0.024245	0	0
AKAP4	8852	broad.mit.edu	37	X	49958170	49958170	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:49958170C>A	ENST00000376056.2	-	5	1317	c.1167G>T	c.(1165-1167)atG>atT	p.M389I	AKAP4_ENST00000358526.2_Missense_Mutation_p.M398I|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M389I			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	398					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.M398I(1)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTGAGTCAGTCATCAGGACCC	0.458000													17	62					2.48551e-13	4.17462e-13	0.033300	1	0
FHOD3	80206	broad.mit.edu	37	18	34205545	34205545	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:34205545G>T	ENST00000257209.4	+	10	1151	c.1029G>T	c.(1027-1029)agG>agT	p.R343S	FHOD3_ENST00000359247.4_Missense_Mutation_p.R343S|FHOD3_ENST00000590592.1_Missense_Mutation_p.R343S|FHOD3_ENST00000591635.1_Missense_Mutation_p.G18V|FHOD3_ENST00000445677.1_Missense_Mutation_p.R343S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	343	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R343S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACCGGAGGAGGGCCAGCGTGT	0.692000													13	65					9.16793e-09	1.29126e-08	0.033300	1	0
KDM4C	23081	broad.mit.edu	37	9	6893233	6893233	+	Splice_Site	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:6893233G>C	ENST00000381309.3	+	8	1486		c.e8+1		KDM4C_ENST00000442236.2_Splice_Site|KDM4C_ENST00000543771.1_Splice_Site|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000381306.3_Splice_Site|KDM4C_ENST00000535193.1_Splice_Site|KDM4C_ENST00000536108.1_Splice_Site	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C						positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TGCCAAATTGGTAAGCTATGC	0.353000													13	59					0	0	0.020292	0	0
PGM5	5239	broad.mit.edu	37	9	71006561	71006561	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:71006561A>T	ENST00000396396.1	+	5	1038	c.809A>T	c.(808-810)aAc>aTc	p.N270I	PGM5_ENST00000396392.1_Missense_Mutation_p.N270I|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	270					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.N270I(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTGACCCAAACCTGACATAT	0.483000													7	66					0	0	0.029380	0	0
OR8H3	390152	broad.mit.edu	37	11	55890270	55890270	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:55890270G>T	ENST00000313472.3	+	1	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C141F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAAAGGCTCTGCCTCGCTCTC	0.448000													22	116					2.44723e-14	4.23622e-14	0.024334	1	0
ALG8	79053	broad.mit.edu	37	11	77825338	77825338	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:77825338G>C	ENST00000376156.3	-	6	650	c.647C>G	c.(646-648)tCc>tGc	p.S216C	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Missense_Mutation_p.S216C	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	216					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.S216C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GAAACAGTAGGATCGCAGCAG	0.388000													17	93					0	0	0.006122	0	0
TCTN2	79867	broad.mit.edu	37	12	124175131	124175131	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:124175131A>T	ENST00000303372.5	+	8	1071	c.943A>T	c.(943-945)Aat>Tat	p.N315Y	TCTN2_ENST00000426174.2_Missense_Mutation_p.N314Y	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	315					cilium assembly|smoothened signaling pathway	integral to membrane		p.N315Y(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATTTCTTCACAATTTTGATGT	0.433000													9	115					0	0	0.004482	0	0
APCS	325	broad.mit.edu	37	1	159558031	159558031	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159558031T>C	ENST00000255040.2	+	2	302	c.205T>C	c.(205-207)Ttc>Ctc	p.F69L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	69	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding	p.F69L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CTACAGCCTCTTCTCCTACAA	0.413000													28	106					0	0	0.012213	0	0
ATP10B	23120	broad.mit.edu	37	5	160059375	160059375	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:160059375C>A	ENST00000327245.5	-	13	2228		c.e13-1		CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B						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	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCGCTTAGCTGCAAGAAAG	0.542000													18	105					1.50039e-11	2.37867e-11	0.012319	1	0
GALNT16	57452	broad.mit.edu	37	14	69800212	69800212	+	Splice_Site	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:69800212A>T	ENST00000337827.4	+	9	1190		c.e9-1		GALNT16_ENST00000553669.1_Splice_Site|GALNT16_ENST00000448469.3_Splice_Site	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16									p.?(1)									CCTTGCTCCCAGGACGCCTGT	0.562000													19	57					0	0	0.014323	0	0
CLEC3B	7123	broad.mit.edu	37	3	45077113	45077113	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:45077113G>A	ENST00000296130.4	+	3	486	c.306G>A	c.(304-306)ggG>ggA	p.G102G	CLEC3B_ENST00000428034.1_Silent_p.G60G|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	102	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding	p.G102G(1)		endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCGCGCGGGGGCACCCTGG	0.637000													12	56					0	0	0.028581	0	0
PAX7	5081	broad.mit.edu	37	1	19018403	19018403	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:19018403G>T	ENST00000420770.2	+	5	825	c.742G>T	c.(742-744)Gag>Tag	p.E248*	PAX7_ENST00000400661.3_Nonsense_Mutation_p.E246*|PAX7_ENST00000375375.3_Nonsense_Mutation_p.E248*	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	248					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E248*(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATACACCCGCGAGGAGCTGGC	0.607000			T	FOXO1A	alveolar rhabdomyosarcoma								6	62					2.7689e-08	3.8498e-08	0.029380	1	0
AKR1D1	6718	broad.mit.edu	37	7	137782616	137782616	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:137782616G>T	ENST00000242375.3	+	4	425	c.383G>T	c.(382-384)gGa>gTa	p.G128V	AKR1D1_ENST00000411726.2_Missense_Mutation_p.G128V|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.G128V	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	128					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.G128V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						tttCAGCCAGGAGATGAAATA	0.303000													28	75					3.11337e-16	5.59805e-16	0.013726	1	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654874	31654874	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:31654874C>A	ENST00000340345.4	-	1	402	c.377G>T	c.(376-378)gGg>gTg	p.G126V		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	126						keratin filament	structural molecule activity	p.G126V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GCATACATACCCATTggtctg	0.542000													31	85					1.74807e-11	2.76795e-11	0.010818	1	0
PCDH10	57575	broad.mit.edu	37	4	134084189	134084189	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:134084189G>T	ENST00000264360.4	+	4	3681	c.2855G>T	c.(2854-2856)cGg>cTg	p.R952L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	952					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R952L(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACTCAGATCGGTGCTGGATG	0.493000													18	82					1.00905e-13	1.71472e-13	0.008871	1	0
MARCO	8685	broad.mit.edu	37	2	119699919	119699919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:119699919G>T	ENST00000327097.4	+	1	178	c.43G>T	c.(43-45)Gag>Tag	p.E15*	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	15					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.E15*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTCTTGAGTGAGACCCAACA	0.433000													16	116					9.16793e-09	1.29126e-08	0.033300	1	0
HYDIN	54768	broad.mit.edu	37	16	70934909	70934909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:70934909C>A	ENST00000393567.2	-	53	9196	c.9046G>T	c.(9046-9048)Gag>Tag	p.E3016*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3016								p.E2967*(1)|p.E3015*(1)|p.E573*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCCTCACCTCCAACCGAATA	0.532000													16	323					3.69857e-22	7.19781e-22	0.037714	1	0
LYST	1130	broad.mit.edu	37	1	235878603	235878603	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:235878603C>A	ENST00000389794.3	-	42	9856	c.9682G>T	c.(9682-9684)Gtg>Ttg	p.V3228L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.V3228L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3228	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.V3228L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TAGGGCTGCACGGGAGGCATG	0.493000													4	60					0.00448238	0.0048118	0.004482	1	0
ZNF479	90827	broad.mit.edu	37	7	57188238	57188238	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:57188238C>A	ENST00000331162.4	-	5	1154	c.884G>T	c.(883-885)aGa>aTa	p.R295I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R295I(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTTGTAGGGTCTCTCTCCAGT	0.473000													6	81					0.00116845	0.00128618	0.021553	1	0
GLDC	2731	broad.mit.edu	37	9	6534752	6534752	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:6534752G>T	ENST00000321612.6	-	24	3025	c.2875C>A	c.(2875-2877)Cac>Aac	p.H959N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	959					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	p.H959N(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGGTCCCAGTGGGAAGATGTA	0.557000													6	39					5.18039e-06	6.47549e-06	0.003080	1	0
DIRC1	116093	broad.mit.edu	37	2	189599394	189599394	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:189599394C>T	ENST00000308100.4	-	2	524	c.254G>A	c.(253-255)aGg>aAg	p.R85K	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	85								p.R85K(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			ACACTTTAGCCTCACAGTATT	0.403000													25	192					0	0	0.027356	0	0
NR1I2	8856	broad.mit.edu	37	3	119526124	119526124	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:119526124G>T	ENST00000393716.2	+	2	1866	c.27G>T	c.(25-27)tgG>tgT	p.W9C	NR1I2_ENST00000337940.4_Missense_Mutation_p.W48C|NR1I2_ENST00000466380.1_Missense_Mutation_p.W9C	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	9					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.W48C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AAGAAAGCTGGAACCATGCTG	0.502000													14	115					3.27435e-08	4.52836e-08	0.020292	1	0
EMG1	10436	broad.mit.edu	37	12	7083817	7083817	+	RNA	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:7083817G>A	ENST00000546220.1	+	0	404				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CCCCAGACCCGAATTCCCAGA	0.463000													8	53					0	0	0.004482	0	0
SDHAF2	54949	broad.mit.edu	37	11	61197628	61197628	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:61197628T>C	ENST00000301761.2	+	1	84	c.10T>C	c.(10-12)Tct>Cct	p.S4P	SDHAF2_ENST00000534878.1_Missense_Mutation_p.S4P|SDHAF2_ENST00000537782.1_Missense_Mutation_p.S4P|SDHAF2_ENST00000543265.1_Missense_Mutation_p.S4P|SDHAF2_ENST00000542074.1_Missense_Mutation_p.S4P|RP11-286N22.8_ENST00000543044.1_5'UTR|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	4					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding	p.S4P(1)		large_intestine(3)|lung(4)|ovary(2)	9						AATGGCGGTGTCTACAGTGTT	0.652000													5	43					0	0	0.014758	0	0
ZPLD1	131368	broad.mit.edu	37	3	102189322	102189322	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:102189322G>T	ENST00000306176.1	+	9	1166	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S	ZPLD1_ENST00000491959.1_Missense_Mutation_p.A340S|ZPLD1_ENST00000466937.1_Missense_Mutation_p.A340S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	340						integral to membrane		p.A356S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GGTGCTCTCTGCTGGTCCCAT	0.512000													12	50					1.5842e-08	2.22404e-08	0.016723	1	0
FCRL5	83416	broad.mit.edu	37	1	157490914	157490914	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:157490914G>T	ENST00000361835.3	-	11	2565	c.2408C>A	c.(2407-2409)gCg>gAg	p.A803E	FCRL5_ENST00000356953.4_Missense_Mutation_p.A803E|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	803	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.A803E(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTTTAAGGACGCTCCTCCAGA	0.557000													45	156					6.21074e-16	1.11212e-15	0.011902	1	0
SLC27A1	376497	broad.mit.edu	37	19	17611545	17611545	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:17611545T>A	ENST00000252595.7	+	10	1593	c.1496T>A	c.(1495-1497)cTg>cAg	p.L499Q	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.L499Q|SLC27A1_ENST00000598424.1_Missense_Mutation_p.L320Q	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	499					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	p.L499Q(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATGGATGAGCTGGGCTACATG	0.667000													9	69					0	0	0.006214	0	0
OR5J2	282775	broad.mit.edu	37	11	55944578	55944578	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:55944578G>T	ENST00000312298.1	+	1	485	c.485G>T	c.(484-486)aGc>aTc	p.S162I		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CACACAATCAGCTTGAGGAGA	0.438000													8	34					1.12685e-05	1.37938e-05	0.004482	1	0
FHDC1	85462	broad.mit.edu	37	4	153896629	153896629	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:153896629G>C	ENST00000511601.1	+	12	2374	c.2186G>C	c.(2185-2187)aGa>aCa	p.R729T	FHDC1_ENST00000260008.3_Missense_Mutation_p.R729T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	729					actin cytoskeleton organization		actin binding	p.R729T(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCCATGGGCAGAGATGCCCTG	0.637000													6	46					0	0	0.029380	0	0
BRINP3	339479	broad.mit.edu	37	1	190067155	190067155	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:190067155C>A	ENST00000367462.3	-	8	2525	c.2294G>T	c.(2293-2295)tGt>tTt	p.C765F	FAM5C_ENST00000534846.1_Missense_Mutation_p.C663F|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		765						extracellular region		p.C765F(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGGTTAACTACATAATTTGGT	0.383000													17	197					3.41278e-10	5.15886e-10	0.033300	1	0
FAT2	2196	broad.mit.edu	37	5	150905354	150905354	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:150905354T>A	ENST00000261800.5	-	17	10493	c.10481A>T	c.(10480-10482)cAg>cTg	p.Q3494L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3494	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.Q3494L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATACCATTCCTGAGCCCTCCT	0.572000													18	68					0	0	0.010504	0	0
ECE2	9718	broad.mit.edu	37	3	183995122	183995122	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:183995122C>A	ENST00000402825.3	+	4	700	c.700C>A	c.(700-702)Ccc>Acc	p.P234T	ECE2_ENST00000357474.5_Missense_Mutation_p.P162T|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.P116T|ECE2_ENST00000359140.4_Missense_Mutation_p.P87T	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	234	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.P234T(1)|p.P162T(1)|p.P87T(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGGGGTGAGCCCCTGTGAGGA	0.597000													41	114					1.67305e-13	2.81731e-13	0.025465	1	0
GALNTL6	442117	broad.mit.edu	37	4	172735859	172735859	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:172735859G>T	ENST00000506823.1	+	2	785	c.128G>T	c.(127-129)gGg>gTg	p.G43V	GALNTL6_ENST00000511251.1_Missense_Mutation_p.G43V	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	43						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G43V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCGGAGCCCGGGGAGCAGCAG	0.542000													9	104					0.000978159	0.00108222	0.010729	1	0
CD80	941	broad.mit.edu	37	3	119263667	119263667	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:119263667A>G	ENST00000264246.3	-	3	510	c.148T>C	c.(148-150)Tgt>Cgt	p.C50R	CD80_ENST00000383668.3_Missense_Mutation_p.C50R|CD80_ENST00000383669.3_Missense_Mutation_p.C50R|CD80_ENST00000478182.1_Missense_Mutation_p.C50R	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	50	Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	p.C50R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TTGTGACCACAGGACAGCGTT	0.423000													6	71					0	0	0.021553	0	0
FASN	2194	broad.mit.edu	37	17	80045115	80045115	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:80045115C>A	ENST00000306749.2	-	21	3456	c.3238G>T	c.(3238-3240)Gtg>Ttg	p.V1080L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1080					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	p.V1080L(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCTGCTCACCACCACGTCA	0.697000													8	10					1.58986e-06	2.02431e-06	0.008291	1	0
POLR3A	11128	broad.mit.edu	37	10	79753014	79753014	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:79753014C>T	ENST00000372371.3	-	20	2865	c.2728G>A	c.(2728-2730)Gca>Aca	p.A910T		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	910					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.A910T(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TCCATAGCTGCAGGATCTAAG	0.403000													37	105					0	0	0.021022	0	0
PCDHGA4	56111	broad.mit.edu	37	5	140735713	140735713	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140735713G>A	ENST00000571252.1	+	1	946	c.946G>A	c.(946-948)Gac>Aac	p.D316N	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGATTCTATGACATAGATGT	0.433000													5	44					0	0	0.021553	0	0
BCL11A	53335	broad.mit.edu	37	2	60689032	60689032	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:60689032T>A	ENST00000335712.6	-	4	1242	c.1015A>T	c.(1015-1017)Atg>Ttg	p.M339L	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.M305L|BCL11A_ENST00000358510.4_Missense_Mutation_p.M305L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.M339L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	339	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.M339L(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AACCTTTGCATAGGGCTGGGC	0.637000			T	IGH@	B-CLL								84	214					0	0	0.014410	0	0
FCER1G	2207	broad.mit.edu	37	1	161187846	161187846	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:161187846C>A	ENST00000289902.1	+	2	145	c.120C>A	c.(118-120)acC>acA	p.T40T	FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Silent_p.T40T	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	40					platelet activation	integral to plasma membrane		p.T40T(1)		endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TTGTCCTCACCCTCCTCTACT	0.582000													19	372					1.96292e-10	2.99156e-10	0.010504	1	0
TFDP3	51270	broad.mit.edu	37	X	132351801	132351801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:132351801G>T	ENST00000310125.4	-	1	575	c.487C>A	c.(487-489)Cgc>Agc	p.R163S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	163						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.R163S(1)|p.R103S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCGTAGGTGCGCCGTTTTATG	0.517000													31	90					5.90632e-09	8.42834e-09	0.012213	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202391829	202391829	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:202391829C>T	ENST00000406302.3	+	3	657	c.504C>T	c.(502-504)gcC>gcT	p.A168A	PPP1R12B_ENST00000336894.4_Silent_p.A168A|PPP1R12B_ENST00000356764.2_Silent_p.A168A|PPP1R12B_ENST00000480184.1_Silent_p.A168A	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	168					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.A168A(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGAGCCAGCCATGAAGGATC	0.448000													14	78					0	0	0.016723	0	0
CPN2	1370	broad.mit.edu	37	3	194062671	194062671	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:194062671G>T	ENST00000323830.3	-	2	850	c.761C>A	c.(760-762)aCg>aAg	p.T254K	CPN2_ENST00000429275.1_Missense_Mutation_p.T254K	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	254					protein stabilization	extracellular region	enzyme regulator activity	p.T254K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CGGCAGGTGCGTGATGGCGTT	0.597000													15	32					6.49762e-13	1.07741e-12	0.006122	1	0
ANO6	196527	broad.mit.edu	37	12	45742320	45742320	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:45742320G>T	ENST00000320560.8	+	6	855	c.653G>T	c.(652-654)cGg>cTg	p.R218L	ANO6_ENST00000423947.3_Missense_Mutation_p.R239L|ANO6_ENST00000425752.2_Missense_Mutation_p.R218L|ANO6_ENST00000435642.1_Missense_Mutation_p.R218L|ANO6_ENST00000441606.2_Missense_Mutation_p.R200L|ANO6_ENST00000426898.2_3'UTR	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	218					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	p.R218L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATCCTCTCTCGGGTCAAGTAT	0.363000													15	85					6.31663e-08	8.58956e-08	0.024245	1	0
NF1	4763	broad.mit.edu	37	17	29557278	29557278	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:29557278G>T	ENST00000358273.4	+	23	3374	c.2990_splice	c.e23-1	p.R997_splice	NF1_ENST00000356175.3_Splice_Site_p.R997_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	997					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R997S(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTCTATATAGGTATGTTCGTG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	29					0.000602214	0.000673155	0.014758	1	0
TRIM63	84676	broad.mit.edu	37	1	26392931	26392931	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:26392931C>A	ENST00000374272.3	-	2	298	c.159_splice	c.e2-1	p.A54_splice	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	54						cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding	p.A54S(1)		kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGATTTGCAGCCTGCAGGTGG	0.587000													6	25					3.59834e-05	4.29159e-05	0.021553	1	0
SGIP1	84251	broad.mit.edu	37	1	67147788	67147788	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:67147788C>A	ENST00000371037.4	+	15	1128	c.1051C>A	c.(1051-1053)Cct>Act	p.P351T	SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P355T|SGIP1_ENST00000371035.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	351	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.P351T(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCTCCAGGCCCTCTCGGCCC	0.597000													16	406					8.10497e-08	1.09527e-07	0.010504	1	0
MUC16	94025	broad.mit.edu	37	19	9064316	9064316	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9064316G>T	ENST00000397910.4	-	3	23333	c.23130C>A	c.(23128-23130)atC>atA	p.I7710I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7712	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.I7710I(2)|p.I3343I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGGGGGGGATATGTGCTA	0.547000													9	133					1.12685e-05	1.37938e-05	0.004482	1	0
HOXA2	3199	broad.mit.edu	37	7	27140602	27140602	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:27140602G>T	ENST00000222718.5	-	2	1184	c.874C>A	c.(874-876)Ccc>Acc	p.P292T		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	292						nucleus	sequence-specific DNA binding transcription factor activity	p.P292T(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GGAACAGTGGGTGACTGGTGC	0.512000													24	167					1.77063e-15	3.14456e-15	0.027356	1	0
PHOSPHO2	493911	broad.mit.edu	37	2	170558020	170558020	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:170558020G>T	ENST00000359744.3	+	4	927	c.539G>T	c.(538-540)gGt>gTt	p.G180V	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	180							metal ion binding|pyridoxal phosphatase activity	p.G180V(1)		breast(1)|large_intestine(1)|lung(6)|skin(2)	10						ATTGGTGATGGTGGAAATGAT	0.353000													18	98					1.99824e-07	2.65072e-07	0.033300	1	0
TMEM245	23731	broad.mit.edu	37	9	111870813	111870813	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:111870813G>A	ENST00000374586.3	-	2	648	c.617C>T	c.(616-618)tCa>tTa	p.S206L		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	206						integral to membrane		p.S206L(1)									CCACTTGAATGAAACAGTCAA	0.358000													6	37					0	0	0.021553	0	0
USH2A	7399	broad.mit.edu	37	1	215972391	215972391	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:215972391C>A	ENST00000366943.2	-	50	10202	c.9816G>T	c.(9814-9816)ccG>ccT	p.P3272P	USH2A_ENST00000307340.3_Silent_p.P3272P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3272					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3272P(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTGGAGTACGGCATTCTGC	0.478000										HNSCC(13;0.011)			10	44					2.80697e-09	4.05002e-09	0.010729	1	0
ADCY1	107	broad.mit.edu	37	7	45662261	45662261	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:45662261G>T	ENST00000297323.7	+	4	961	c.939G>T	c.(937-939)acG>acT	p.T313T	ADCY1_ENST00000432715.1_Silent_p.T88T	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	313					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.T313T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGGTTTCACGGGCTTGGCAT	0.527000													13	54					1.99824e-07	2.65072e-07	0.033300	1	0
CHRND	1144	broad.mit.edu	37	2	233398732	233398732	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:233398732C>T	ENST00000258385.3	+	10	1171	c.1139C>T	c.(1138-1140)tCc>tTc	p.S380F	CHRND_ENST00000543200.1_Missense_Mutation_p.S365F|CHRND_ENST00000457943.2_Missense_Mutation_p.S186F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	380					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.S380F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		AGGAGCAGCTCCCTGGGATAC	0.657000													29	110					0	0	0.034045	0	0
NLRP10	338322	broad.mit.edu	37	11	7982257	7982257	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:7982257T>C	ENST00000328600.2	-	2	1063	c.902A>G	c.(901-903)gAg>gGg	p.E301G		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	301	NACHT.						ATP binding	p.E301G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCAAGGGCTCCAGATTCCT	0.542000													27	220					0	0	0.024334	0	0
MEX3B	84206	broad.mit.edu	37	15	82336558	82336558	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:82336558C>A	ENST00000329713.4	-	2	1088	c.653G>T	c.(652-654)cGa>cTa	p.R218L	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	218	KH 2.				protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding	p.R218L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						AATCTCCTCTCGAGCGCGATC	0.612000													24	193					7.41945e-09	1.05183e-08	0.027356	1	0
HGF	3082	broad.mit.edu	37	7	81335062	81335062	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:81335062C>G	ENST00000222390.5	-	16	1991	c.1765G>C	c.(1765-1767)Gtc>Ctc	p.V589L	HGF_ENST00000457544.2_Missense_Mutation_p.V584L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	589	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TCATCCAGGACAGCAGGCCTG	0.363000													3	19					0	0	0.004672	0	0
IL1RL1	9173	broad.mit.edu	37	2	102954739	102954739	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:102954739C>G	ENST00000311734.2	+	2	354	c.15C>G	c.(13-15)atC>atG	p.I5M	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000233954.1_Missense_Mutation_p.I5M|IL1RL1_ENST00000409584.1_Missense_Mutation_p.I5M|IL1RL1_ENST00000393393.3_Missense_Mutation_p.I5M			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	5					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.I5M(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGTTTTGGATCTTAGCAATTC	0.333000													14	56					0	0	0.024245	0	0
ZIM3	114026	broad.mit.edu	37	19	57646288	57646288	+	Nonstop_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:57646288A>G	ENST00000269834.1	-	5	1802	c.1417T>C	c.(1417-1419)Tag>Cag	p.*473Q		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.*473Q(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGGCTCCTATCTGGAGTGA	0.433000													12	128					0	0	0.010729	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036179	110036179	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:110036179G>C	ENST00000453089.2	+	5	3157	c.2276G>C	c.(2275-2277)cGg>cCg	p.R759P	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.R791P|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.R790P			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	790							endonuclease activity|nucleic acid binding|zinc ion binding	p.R790P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TATGGGTACCGGCAGACTTAT	0.567000													22	74					0	0	0.016522	0	0
GBX2	2637	broad.mit.edu	37	2	237074654	237074654	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:237074654G>T	ENST00000306318.4	-	2	1347	c.950C>A	c.(949-951)cCc>cAc	p.P317H	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	317						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P317H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GTTCCGGGAGGGCTCCCCTGT	0.587000													24	142					1.96895e-08	2.74051e-08	0.016522	1	0
PLXNA1	5361	broad.mit.edu	37	3	126707723	126707723	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:126707723A>T	ENST00000251772.4	+	1	287	c.218A>T	c.(217-219)tAc>tTc	p.Y73F	PLXNA1_ENST00000393409.2_Missense_Mutation_p.Y96F			Q9UIW2	PLXA1_HUMAN	plexin A1	96	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.Y73F(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GAGAAGTGCTACCCGCCGCCC	0.642000													27	85					0	0	0.024334	0	0
ENG	2022	broad.mit.edu	37	9	130605503	130605503	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:130605503C>T	ENST00000344849.3	-	2	369	c.89G>A	c.(88-90)tGt>tAt	p.C30Y	ENG_ENST00000373203.4_Missense_Mutation_p.C30Y			P17813	EGLN_HUMAN	endoglin	30					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding	p.C30Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CTGAAGGTCACAATGGACTGT	0.542000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				7	122					0	0	0.003080	0	0
TRIM56	81844	broad.mit.edu	37	7	100732256	100732256	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:100732256G>T	ENST00000306085.6	+	3	1960	c.1663G>T	c.(1663-1665)Gtg>Ttg	p.V555L		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	555					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.V555L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTTGCAGCGTGGCCGCCCT	0.672000													34	159					7.11191e-15	1.23768e-14	0.013726	1	0
GPR149	344758	broad.mit.edu	37	3	154055653	154055653	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:154055653G>C	ENST00000389740.2	-	4	2130	c.2031C>G	c.(2029-2031)ccC>ccG	p.P677P		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	677						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P677P(2)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTACTGGTGGGCAAAAAGA	0.458000													13	186					0	0	0.013537	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493773	102493773	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:102493773G>C	ENST00000360184.4	+	46	9104	c.8940G>C	c.(8938-8940)ttG>ttC	p.L2980F		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2980	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.L2980F(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGACAGTGTTGAGACGTTCTG	0.428000													11	164					0	0	0.008291	0	0
HJURP	55355	broad.mit.edu	37	2	234749700	234749700	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:234749700G>T	ENST00000411486.2	-	8	1791	c.1726C>A	c.(1726-1728)Cgt>Agt	p.R576S	HJURP_ENST00000441687.1_Missense_Mutation_p.R491S|HJURP_ENST00000432087.1_Missense_Mutation_p.R522S	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	576					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.R576C(1)|p.R576S(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCATCGTAACGATTCCTTCCG	0.413000													28	140					1.77063e-15	3.14456e-15	0.027356	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43629302	43629302	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:43629302G>T	ENST00000332857.6	-	2	236	c.208C>A	c.(208-210)Cgg>Agg	p.R70R		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.R70R(1)									CTGGGCCTCCGCCTCCGCCCT	0.532000													54	659					4.88506e-25	9.77011e-25	0.014410	1	0
NPNT	255743	broad.mit.edu	37	4	106863837	106863837	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:106863837G>T	ENST00000379987.2	+	8	1353	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	NPNT_ENST00000506666.1_Missense_Mutation_p.Q409H|NPNT_ENST00000427316.2_Missense_Mutation_p.Q409H|NPNT_ENST00000305572.8_Missense_Mutation_p.Q379H|NPNT_ENST00000514622.1_Missense_Mutation_p.Q379H|NPNT_ENST00000453617.2_Missense_Mutation_p.Q396H	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	379					cell differentiation	membrane	calcium ion binding	p.Q379H(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		CAGACCCTCAGAAACCCAGAG	0.458000													7	76					1.76689e-08	2.46191e-08	0.006214	1	0
DEPDC1	55635	broad.mit.edu	37	1	68947136	68947136	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:68947136C>G	ENST00000456315.2	-	9	2036	c.1922G>C	c.(1921-1923)gGt>gCt	p.G641A	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.G357A	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	641	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TGACCTCGTACCCATTGCATC	0.353000													3	11					0	0	0.004672	0	0
ZBTB18	10472	broad.mit.edu	37	1	244217639	244217639	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:244217639A>T	ENST00000358704.4	+	2	712	c.563A>T	c.(562-564)gAg>gTg	p.E188V		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1			zinc finger and BTB domain containing 18									p.E179V(1)									TTGGCGGCCGAGCCTGGGAAC	0.562000													20	103					0	0	0.016522	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544388	89544388	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:89544388C>A	ENST00000468494.1	-	0	265																											CCCAGAGTCCCGGTTAGAAAC	0.498000													24	250					1.64293e-13	2.77019e-13	0.018920	1	0
OR5M9	390162	broad.mit.edu	37	11	56230096	56230096	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:56230096G>T	ENST00000279791.1	-	1	781	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488000													14	42					4.36969e-10	6.55958e-10	0.016723	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516349	140516349	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140516349G>T	ENST00000231134.5	+	1	1550	c.1333G>T	c.(1333-1335)Gac>Tac	p.D445Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.D445Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACGTCAATGACAACGCCCC	0.587000													35	229					3.6622e-26	7.38118e-26	0.017118	1	0
ZNF273	10793	broad.mit.edu	37	7	64388164	64388164	+	Missense_Mutation	SNP	C	C	T	rs148564376	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:64388164C>T	ENST00000476120.1	+	4	529	c.458C>T	c.(457-459)gCg>gTg	p.A153V	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.A88V	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A153V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTAAAAGTGCGGATGAGCAT	0.333000													27	91					0	0	0.024334	0	0
FTMT	94033	broad.mit.edu	37	5	121187716	121187716	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:121187716C>A	ENST00000321339.1	+	1	67	c.58C>A	c.(58-60)Cgc>Agc	p.R20S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	20					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R20C(1)|p.R20S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCGTCTCTGCGCCCGGTGCG	0.736000													4	59					0.00024832	0.000282924	0.009096	1	0
GABRQ	55879	broad.mit.edu	37	X	151820222	151820222	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:151820222C>A	ENST00000370306.2	+	8	1155	c.1135C>A	c.(1135-1137)Caa>Aaa	p.Q379K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	379						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.Q379K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTACCAGCAAGTGGTGGT	0.527000													44	91					6.4308e-24	1.27829e-23	0.014410	1	0
RYR2	6262	broad.mit.edu	37	1	237993872	237993872	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:237993872A>G	ENST00000366574.2	+	103	15015	c.14698A>G	c.(14698-14700)Aca>Gca	p.T4900A	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4884A|RYR2_ENST00000360064.6_Missense_Mutation_p.T4906A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4900					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	p.T4898A(1)		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)			TTACTTCGACACAGTGCCACA	0.423000													17	164					0	0	0.007413	0	0
RAVER1	125950	broad.mit.edu	37	19	10429882	10429882	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:10429882C>A	ENST00000293677.6	-	10	1937	c.1856G>T	c.(1855-1857)cGg>cTg	p.R619L	CTD-2369P2.12_ENST00000586529.1_Missense_Mutation_p.R20L	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	450						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.R619L(1)|p.R602L(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GGCTGGTTCCCGTGGGTGGGA	0.587000													7	36					3.09899e-07	4.08174e-07	0.004482	1	0
KIAA0368	23392	broad.mit.edu	37	9	114156454	114156454	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:114156454G>A	ENST00000259335.4	-	27	3441	c.3442C>T	c.(3442-3444)Cac>Tac	p.H1148Y	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.H970Y	NM_001080398.1	NP_001073867.1			KIAA0368									p.H1148Y(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACTTCTTTGTGGGTACTTAGC	0.458000													8	10					0	0	0.004482	0	0
IHH	3549	broad.mit.edu	37	2	219922303	219922303	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:219922303G>T	ENST00000295731.5	-	2	428	c.429C>A	c.(427-429)tcC>tcA	p.S143S		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	143					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	p.S143S(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATAATGCAGGGACTCCTCTG	0.632000													10	34					7.03913e-09	9.99003e-09	0.013537	1	0
SENP6	26054	broad.mit.edu	37	6	76423247	76423247	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:76423247G>T	ENST00000370014.3	+	22	3547	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	SENP6_ENST00000370010.2_Missense_Mutation_p.M969I|SENP6_ENST00000447266.2_Missense_Mutation_p.M976I|SENP6_ENST00000541192.1_3'UTR	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	976	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	p.M976I(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCCTACTTATGGACTCACTCC	0.348000													8	66					1.12685e-05	1.37938e-05	0.004482	1	0
MDFIC	29969	broad.mit.edu	37	7	114619570	114619570	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:114619570A>T	ENST00000257724.3	+	4	817	c.554A>T	c.(553-555)cAg>cTg	p.Q185L	MDFIC_ENST00000393486.1_Missense_Mutation_p.Q76L			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	76	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding	p.Q185L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GCCCAACCTCAGCGCTTGCCT	0.388000													19	43					0	0	0.006122	0	0
PDE1C	5137	broad.mit.edu	37	7	31862794	31862794	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:31862794G>T	ENST00000396184.3	-	15	1679	c.1475C>A	c.(1474-1476)gCc>gAc	p.A492D	PDE1C_ENST00000396191.1_Missense_Mutation_p.A492D|PDE1C_ENST00000321453.7_Missense_Mutation_p.A492D|PDE1C_ENST00000396182.2_Missense_Mutation_p.A492D|PDE1C_ENST00000396193.1_Missense_Mutation_p.A552D	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	492	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A492E(2)|p.A552E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTGATCGGGGCACTTCCCTC	0.463000													12	87					4.36969e-10	6.55958e-10	0.016723	1	0
PLVAP	83483	broad.mit.edu	37	19	17476329	17476329	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:17476329C>A	ENST00000252590.4	-	3	1006	c.945G>T	c.(943-945)ctG>ctT	p.L315L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	315						caveola|integral to membrane|perinuclear region of cytoplasm		p.L315L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GACTGGCCCGCAGGCCCTGCT	0.672000													8	56					0.000442599	0.000498595	0.006214	1	0
NANOGP1	404635	broad.mit.edu	37	12	8050907	8050907	+	RNA	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:8050907A>T	ENST00000607111.1	+	0	310																		p.Q97L(1)		kidney(1)|lung(4)|prostate(1)	6						aagaggtggcagaaaaacaac	0.383000													12	15					0	0	0.016723	0	0
SLC43A2	124935	broad.mit.edu	37	17	1479966	1479966	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:1479966G>A	ENST00000571650.1	-	14	1791	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	SLC43A2_ENST00000382147.4_Silent_p.I495I|SLC43A2_ENST00000301335.4_Silent_p.I491I|SLC43A2_ENST00000412517.3_Silent_p.I354I			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	491					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		p.I491I(1)		endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGAGCGCGCTGATCAGAGACT	0.642000													8	38					0	0	0.006214	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373263	129373263	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:129373263C>A	ENST00000542193.1	+	0	273				GLT1D1_ENST00000281703.6_Silent_p.V99V|GLT1D1_ENST00000537468.1_Silent_p.V88V|GLT1D1_ENST00000442111.2_Silent_p.V99V			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1						biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	p.V99V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAAACACAGTCATGGGCAGAG	0.433000													5	43					0.000602214	0.000673155	0.014758	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431524	107431524	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:107431524G>T	ENST00000340010.5	-	5	723	c.539C>A	c.(538-540)gCa>gAa	p.A180E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A145E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	180					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A180E(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TGTGACTGATGCCGCCGCCGC	0.478000													16	24					1.99824e-07	2.65072e-07	0.033300	1	0
OR5AN1	390195	broad.mit.edu	37	11	59132758	59132758	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:59132758C>T	ENST00000313940.2	+	1	874	c.827C>T	c.(826-828)tCt>tTt	p.S276F		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S276F(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AGATTTGCATCTGTTTTCTAC	0.383000													20	121					0	0	0.008871	0	0
EVI2B	2124	broad.mit.edu	37	17	29631301	29631301	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:29631301G>T	ENST00000330927.4	-	2	1481	c.1327C>A	c.(1327-1329)Cca>Aca	p.P443T	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.P458T|EVI2B_ENST00000577894.1_Missense_Mutation_p.P443T	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	443						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)|p.P443T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TCTGCAGGTGGAGGTGGCAGG	0.358000													8	67					2.17888e-05	2.63983e-05	0.006214	1	0
OR5AS1	219447	broad.mit.edu	37	11	55798170	55798170	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:55798170C>A	ENST00000313555.1	+	1	276	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I92I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGAAAAGCATCTCTCCTTATG	0.423000													7	27					0.000157383	0.0001809	0.003080	1	0
ZNF442	79973	broad.mit.edu	37	19	12460729	12460729	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:12460729G>C	ENST00000242804.4	-	6	2252	c.1670C>G	c.(1669-1671)aCt>aGt	p.T557S	ZNF442_ENST00000438182.1_Missense_Mutation_p.T488S	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T557S(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CAGAAGGCAAGTGAGCCAAGA	0.413000													7	97					0	0	0.029380	0	0
MYOCD	93649	broad.mit.edu	37	17	12656507	12656507	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:12656507C>A	ENST00000425538.1	+	10	2102	c.1902C>A	c.(1900-1902)tcC>tcA	p.S634S	MYOCD_ENST00000343344.4_Silent_p.S634S|MYOCD_ENST00000395988.1_Silent_p.S538S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	634					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.S634S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTGTTCCCCTCAGCATT	0.547000													67	202					2.40885e-21	4.65998e-21	0.014410	1	0
ZNF700	90592	broad.mit.edu	37	19	12060377	12060377	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:12060377G>A	ENST00000482090.1	+	3	1902	c.1484G>A	c.(1483-1485)tGt>tAt	p.C495Y	ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.C513Y|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C513Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTAGTATATGTGAGAAAGGC	0.383000													5	82					0	0	0.021553	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111782419	111782419	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:111782419C>G	ENST00000452346.2	+	12	1498	c.1495C>G	c.(1495-1497)Cag>Gag	p.Q499E	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Q373E			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	499	LDL-receptor class A 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.Q228E(1)|p.Q373E(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGTGTCCCTCAGGCCCAGCG	0.388000													12	320					0	0	0.016723	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146368	156146368	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:156146368C>T	ENST00000368285.3	+	15	2133	c.1866C>T	c.(1864-1866)taC>taT	p.Y622Y	SEMA4A_ENST00000368286.2_Silent_p.Y490Y|SEMA4A_ENST00000368282.1_Silent_p.Y622Y|SEMA4A_ENST00000368284.1_Silent_p.Y490Y|SEMA4A_ENST00000355014.2_Silent_p.Y622Y	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	622	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.Y622Y(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GGGGTCTCTACCAGTGCTGGG	0.557000													14	144					0	0	0.020292	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346519	70346519	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:70346519T>C	ENST00000305107.6	-	6	1466	c.1420A>G	c.(1420-1422)Aag>Gag	p.K474E	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.K338E	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	474					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.K474E(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CGAAGGTGCTTGGCTCCTTTA	0.483000													19	194					0	0	0.008871	0	0
BMP3	651	broad.mit.edu	37	4	81974563	81974563	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:81974563G>C	ENST00000282701.2	+	3	1612	c.1292G>C	c.(1291-1293)gGg>gCg	p.G431A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	431					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.G431A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GTCGTTCCTGGGATTCCTGAG	0.393000													14	58					0	0	0.028581	0	0
SPESP1	246777	broad.mit.edu	37	15	69238267	69238267	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:69238267G>C	ENST00000310673.3	+	2	548	c.394G>C	c.(394-396)Gtt>Ctt	p.V132L	NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000455873.3_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	132					multicellular organismal development	acrosomal vesicle		p.V132L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TGTTTCCATTGTTTTGCATGC	0.448000													4	47					0	0	0.009096	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128838970	128838970	+	Silent	SNP	C	C	A	rs117353412	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:128838970C>A	ENST00000310343.9	-	22	6095	c.6096G>T	c.(6094-6096)ctG>ctT	p.L2032L	ARHGAP32_ENST00000392657.3_Silent_p.L1683L|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Silent_p.L1683L	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2032	Interaction with FYN.				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	p.P2033S(1)|p.P1684S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGTGCTGAGGCAGGGAGTGGT	0.592000													7	52					8.12818e-05	9.47681e-05	0.029380	1	0
FAM13C	220965	broad.mit.edu	37	10	61062572	61062572	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:61062572C>A	ENST00000373867.3	-	6	712	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	FAM13C_ENST00000277705.6_Missense_Mutation_p.D166Y|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000419214.2_Missense_Mutation_p.D166Y|FAM13C_ENST00000373868.2_Missense_Mutation_p.D166Y|FAM13C_ENST00000468840.2_Missense_Mutation_p.D83Y|FAM13C_ENST00000435852.2_Missense_Mutation_p.D166Y|FAM13C_ENST00000422313.2_Missense_Mutation_p.D166Y|FAM13C_ENST00000442566.3_Missense_Mutation_p.D166Y	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	166								p.D166Y(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCATTTAAGTCCTGCCGAGTT	0.338000													11	56					0.000978159	0.00108222	0.010729	1	0
NIPAL4	348938	broad.mit.edu	37	5	156895765	156895765	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:156895765G>T	ENST00000311946.7	+	4	672	c.556G>T	c.(556-558)Gca>Tca	p.A186S	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Missense_Mutation_p.A167S	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	186						integral to membrane	receptor activity	p.A124S(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						TGGAGCCTACGCATTTGCACC	0.507000													20	111					2.08468e-23	4.11866e-23	0.012319	1	0
PTPN23	25930	broad.mit.edu	37	3	47453615	47453615	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:47453615C>A	ENST00000265562.4	+	22	4182	c.4105C>A	c.(4105-4107)Cgc>Agc	p.R1369S	PTPN23_ENST00000431726.1_Missense_Mutation_p.R1243S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1369	Tyrosine-protein phosphatase.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.R1369S(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAACTTGCTGCGCTTCATCCA	0.637000													10	98					6.40141e-05	7.53789e-05	0.010729	1	0
MYT1L	23040	broad.mit.edu	37	2	1855465	1855465	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:1855465G>T	ENST00000399161.2	-	19	3469	c.2722C>A	c.(2722-2724)Cct>Act	p.P908T	MYT1L_ENST00000428368.2_Missense_Mutation_p.P906T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	908					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P908T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCACAGCCAGGCGTGGGGCAC	0.378000													31	124					1.47197e-15	2.62132e-15	0.030466	1	0
CDCP1	64866	broad.mit.edu	37	3	45153906	45153906	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:45153906C>A	ENST00000296129.1	-	3	458	c.324G>T	c.(322-324)gaG>gaT	p.E108D	CDCP1_ENST00000425231.2_Missense_Mutation_p.E108D|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	108						extracellular region|integral to membrane|plasma membrane		p.E108D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAAGCTGAACCTCCCCAAAAG	0.493000													38	310					1.48646e-12	2.45229e-12	0.010771	1	0
ATP2B3	492	broad.mit.edu	37	X	152815041	152815041	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:152815041G>T	ENST00000370186.1	+	9	1709	c.1383G>T	c.(1381-1383)acG>acT	p.T461T	ATP2B3_ENST00000263519.4_Silent_p.T475T|ATP2B3_ENST00000349466.2_Silent_p.T475T|ATP2B3_ENST00000393842.1_Silent_p.T461T|ATP2B3_ENST00000370181.2_Silent_p.T461T|ATP2B3_ENST00000359149.3_Silent_p.T475T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	475					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G476C(3)|p.G462C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGACAAGACGGGCACGCTCA	0.592000													13	213					7.45023e-12	1.19867e-11	0.010504	1	0
NRP2	8828	broad.mit.edu	37	2	206610595	206610595	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:206610595G>T	ENST00000360409.3	+	10	2558	c.1767G>T	c.(1765-1767)gtG>gtT	p.V589V	NRP2_ENST00000357118.4_Silent_p.V589V|NRP2_ENST00000540841.1_Silent_p.V589V|NRP2_ENST00000357785.5_Silent_p.V589V|NRP2_ENST00000412873.2_Silent_p.V589V|NRP2_ENST00000272849.3_Silent_p.V589V|NRP2_ENST00000540178.1_Silent_p.V589V	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	589	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.V589V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGCTGGAGGTGCTGGGCTGTG	0.612000													13	54					1.3612e-06	1.74858e-06	0.024245	1	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170187	20170187	+	RNA	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:20170187C>G	ENST00000338912.5	-	0	84																		p.E29Q(1)									TTCTTCACCTCAGCCCCAGAC	0.572000													16	90					0	0	0.024245	0	0
LEF1	51176	broad.mit.edu	37	4	109004522	109004522	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:109004522G>C	ENST00000379951.2	-	5	1816	c.628C>G	c.(628-630)Cct>Gct	p.P210A	LEF1_ENST00000510624.1_Missense_Mutation_p.P142A|LEF1_ENST00000438313.2_Missense_Mutation_p.P210A|LEF1_ENST00000512172.1_Missense_Mutation_p.P142A|LEF1_ENST00000265165.1_Missense_Mutation_p.P210A	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	210	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.P210A(1)|p.P142A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CAGCCAAGAGGTGGGGTGATC	0.468000													12	41					0	0	0.024245	0	0
CNN3	1266	broad.mit.edu	37	1	95363333	95363333	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:95363333C>G	ENST00000370206.4	-	7	1338	c.955G>C	c.(955-957)Gat>Cat	p.D319H	CNN3_ENST00000538964.1_Missense_Mutation_p.D319H|CNN3_ENST00000394202.4_Missense_Mutation_p.D273H|CNN3_ENST00000545882.1_Missense_Mutation_p.D278H	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	319	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	p.D319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATTGGTAATCTCTGGGGTAG	0.423000													17	95					0	0	0.006122	0	0
CSMD3	114788	broad.mit.edu	37	8	113241048	113241048	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113241048G>A	ENST00000297405.5	-	70	11145	c.10901C>T	c.(10900-10902)gCt>gTt	p.A3634V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3465V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3564V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3594V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3634						integral to membrane|plasma membrane		p.A3634V(2)|p.A3594V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACAAGAATAGCAATGGCTAC	0.284000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	56					0	0	0.017118	0	0
TMEM82	388595	broad.mit.edu	37	1	16070921	16070921	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:16070921C>A	ENST00000375782.1	+	4	741	c.603C>A	c.(601-603)ccC>ccA	p.P201P	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	201	Leu-rich.					integral to membrane		p.P201Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCCTCCCCCAGCTGCTGG	0.687000													4	14					0.014758	0.0153852	0.014758	1	0
ZNF423	23090	broad.mit.edu	37	16	49670403	49670403	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:49670403C>A	ENST00000561648.1	-	4	2713	c.2660G>T	c.(2659-2661)gGc>gTc	p.G887V	ZNF423_ENST00000562871.1_Missense_Mutation_p.G827V|ZNF423_ENST00000563137.2_Missense_Mutation_p.G827V|ZNF423_ENST00000535559.1_Missense_Mutation_p.G770V|ZNF423_ENST00000262383.2_Missense_Mutation_p.G887V|ZNF423_ENST00000567169.1_Missense_Mutation_p.G770V|ZNF423_ENST00000562520.1_Missense_Mutation_p.G827V	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	887					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G887V(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GATGTCACAGCCGTACATGGG	0.632000													26	79					3.65163e-15	6.4237e-15	0.030593	1	0
PRKD1	5587	broad.mit.edu	37	14	30046644	30046644	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:30046644C>A	ENST00000331968.5	-	18	2768	c.2539G>T	c.(2539-2541)Gat>Tat	p.D847Y	PRKD1_ENST00000415220.2_Missense_Mutation_p.D855Y	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	847					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.D847Y(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TCTCGCAAATCTAACCAGGTC	0.443000													25	106					7.92952e-12	1.27107e-11	0.021523	1	0
NAV3	89795	broad.mit.edu	37	12	78444860	78444860	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:78444860G>T	ENST00000397909.2	+	11	2622	c.2449G>T	c.(2449-2451)Gtg>Ttg	p.V817L	NAV3_ENST00000228327.6_Missense_Mutation_p.V817L|NAV3_ENST00000266692.7_Missense_Mutation_p.V817L|NAV3_ENST00000536525.2_Missense_Mutation_p.V817L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	817						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.V817L(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGAGGTCGATGTGGGTGGATA	0.493000										HNSCC(70;0.22)			5	93					0.014758	0.0153852	0.014758	1	0
DNAH5	1767	broad.mit.edu	37	5	13751281	13751281	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:13751281T>A	ENST00000265104.4	-	65	11221	c.11117A>T	c.(11116-11118)gAg>gTg	p.E3706V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3706	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3706V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCACTTATCTCAGGGGTGTA	0.448000									Kartagener syndrome				8	102					0	0	0.003080	0	0
ACSM2A	123876	broad.mit.edu	37	16	20497976	20497976	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:20497976G>A	ENST00000573854.1	+	14	1824	c.1710G>A	c.(1708-1710)atG>atA	p.M570I	ACSM2A_ENST00000575690.1_Missense_Mutation_p.M570I|ACSM2A_ENST00000536134.1_Missense_Mutation_p.M342I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.M570I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.M570I|ACSM2A_ENST00000417235.2_Missense_Mutation_p.M491I	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	570					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.M570I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGTGGAAGATGTCCGGAAAAG	0.463000													41	135					0	0	0.014410	0	0
IL32	9235	broad.mit.edu	37	16	3119200	3119200	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:3119200G>T	ENST00000525643.2	+	7	743	c.411G>T	c.(409-411)ctG>ctT	p.L137L	IL32_ENST00000529550.1_Silent_p.L137L|IL32_ENST00000552936.1_Silent_p.L161L|IL32_ENST00000526464.2_Silent_p.L137L|IL32_ENST00000533097.2_Silent_p.L137L|IL32_ENST00000530890.1_Silent_p.L117L|IL32_ENST00000325568.5_Silent_p.L137L|IL32_ENST00000549213.1_Intron|IL32_ENST00000440815.3_Silent_p.L137L|IL32_ENST00000548652.1_Silent_p.L128L|IL32_ENST00000396890.2_Silent_p.L183L|IL32_ENST00000552356.1_Silent_p.L117L|IL32_ENST00000396887.3_Intron|IL32_ENST00000548476.1_Silent_p.L183L|IL32_ENST00000444393.3_Silent_p.L137L|IL32_ENST00000529699.1_Silent_p.L117L|IL32_ENST00000548246.1_Silent_p.L97L|IL32_ENST00000382213.3_Silent_p.L128L|IL32_ENST00000551513.1_Silent_p.L174L|IL32_ENST00000552664.1_Silent_p.L137L|IL32_ENST00000530538.2_Silent_p.L137L|IL32_ENST00000531965.1_Silent_p.L127L|IL32_ENST00000528163.2_Silent_p.L137L|IL32_ENST00000534507.1_Silent_p.L183L|IL32_ENST00000008180.9_Silent_p.L117L|IL32_ENST00000551122.1_Intron			P24001	IL32_HUMAN	interleukin 32	183					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.L137L(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGGTGGCCCTGGTCCATGCAG	0.592000													8	104					2.27111e-07	3.00045e-07	0.013537	1	0
LIMD2	80774	broad.mit.edu	37	17	61776059	61776059	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:61776059G>T	ENST00000259006.3	-	5	395	c.237C>A	c.(235-237)taC>taA	p.Y79*	LIMD2_ENST00000582055.1_Nonsense_Mutation_p.Y30*|LIMD2_ENST00000583211.1_Nonsense_Mutation_p.Y30*|LIMD2_ENST00000578402.1_Nonsense_Mutation_p.Y79*|LIMD2_ENST00000578061.1_Nonsense_Mutation_p.Y79*|LIMD2_ENST00000578993.1_Nonsense_Mutation_p.Y39*	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	79	LIM zinc-binding.						zinc ion binding	p.Y79*(1)		kidney(1)|lung(2)	3						GCAGCGCGGCGTAGCTGCCCA	0.657000													11	113					6.40141e-05	7.53789e-05	0.010729	1	0
MTR	4548	broad.mit.edu	37	1	237023177	237023177	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:237023177G>T	ENST00000366577.5	+	19	2392	c.1998G>T	c.(1996-1998)tgG>tgT	p.W666C	MTR_ENST00000535889.1_Missense_Mutation_p.W666C	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	666	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.W666C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CTGATGAGTGGAGAAATGGCC	0.468000													12	104					9.31168e-06	1.15068e-05	0.016723	1	0
MSMO1	6307	broad.mit.edu	37	4	166261514	166261514	+	Missense_Mutation	SNP	A	A	C	rs145987291		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:166261514A>C	ENST00000261507.6	+	5	846	c.673A>C	c.(673-675)Att>Ctt	p.I225L	MSMO1_ENST00000504317.1_Missense_Mutation_p.I225L|MSMO1_ENST00000393766.2_Missense_Mutation_p.I94L	NM_006745.4	NP_006736.1	Q15800	ERG25_HUMAN	methylsterol monooxygenase 1	225					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.I225L(1)								NADH(DB00157)	ATTAGAAACTATTGATGTCCA	0.323000													5	69					0	0	0.014758	0	0
RBM17	84991	broad.mit.edu	37	10	6143252	6143252	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:6143252A>G	ENST00000446108.1	+	3	786	c.142A>G	c.(142-144)Agt>Ggt	p.S48G	RBM17_ENST00000379888.4_Missense_Mutation_p.S48G	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	48					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.S48G(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GACGAAACAAAGTACAGTCCT	0.443000													3	36					0	0	0.004672	0	0
ADRBK2	157	broad.mit.edu	37	22	26074883	26074883	+	Splice_Site	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:26074883G>C	ENST00000324198.5	+	9	939		c.e9+1			NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGCACAGGAGTAAGTATTCA	0.333000													5	68					0	0	0.014758	0	0
NPHP4	261734	broad.mit.edu	37	1	6027358	6027358	+	Splice_Site	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:6027358C>T	ENST00000378156.4	-	5	783		c.e5+1		NPHP4_ENST00000478423.2_Splice_Site	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4						actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.?(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCTCTTACGCTCTGCGGG	0.592000													4	8					0	0	0.014758	0	0
RNASE10	338879	broad.mit.edu	37	14	20978890	20978890	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:20978890G>T	ENST00000430083.1	+	2	748	c.344G>T	c.(343-345)gGt>gTt	p.G115V	RNASE10_ENST00000328444.5_Missense_Mutation_p.G87V			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	87						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.G87F(1)		endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		CCCATCCTCGGTGAAGATGAG	0.517000													11	90					1.58986e-06	2.02431e-06	0.008291	1	0
VCP	7415	broad.mit.edu	37	9	35062999	35062999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:35062999C>A	ENST00000358901.6	-	7	1682	c.787G>T	c.(787-789)Gga>Tga	p.G263*		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	263					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.G263*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AAGAAGGCTCCAGTCTCATTT	0.468000													43	320					2.35958e-20	4.49116e-20	0.036044	1	0
MAS1L	116511	broad.mit.edu	37	6	29454605	29454605	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:29454605G>A	ENST00000377127.3	-	1	1133	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	359						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.H359Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TGAGTAGAGTGTGGTTGCTCC	0.502000													76	104					0	0	0.014410	0	0
ZZEF1	23140	broad.mit.edu	37	17	3954271	3954271	+	Missense_Mutation	SNP	C	C	G	rs79012370	by1000genomes	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:3954271C>G	ENST00000381638.2	-	36	5791	c.5667G>C	c.(5665-5667)agG>agC	p.R1889S		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1889							calcium ion binding|zinc ion binding	p.R1889S(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GCTGGATGAGCCTCTGCCGGT	0.542000													15	40					0	0	0.008871	0	0
OR52J3	119679	broad.mit.edu	37	11	5068575	5068575	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5068575C>A	ENST00000380370.1	+	1	820	c.820C>A	c.(820-822)Cac>Aac	p.H274N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H274N(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGTTACATTCACATTCTTGT	0.438000													10	134					3.07112e-06	3.85372e-06	0.010729	1	0
NLRP10	338322	broad.mit.edu	37	11	7982253	7982253	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:7982253G>A	ENST00000328600.2	-	2	1067	c.906C>T	c.(904-906)ccC>ccT	p.P302P		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	302	NACHT.						ATP binding	p.P302P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTTTCAGCAAGGGCTCCAGAT	0.547000													29	221					0	0	0.030593	0	0
PKHD1	5314	broad.mit.edu	37	6	51909776	51909776	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:51909776G>T	ENST00000371117.3	-	25	2978	c.2703C>A	c.(2701-2703)aaC>aaA	p.N901K	PKHD1_ENST00000340994.4_Missense_Mutation_p.N901K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	901					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.N901_Q902>KK(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTATGCTGGTTGGCAGTAG	0.463000													12	43					7.03913e-09	9.99003e-09	0.013537	1	0
EDN3	1908	broad.mit.edu	37	20	57899434	57899434	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:57899434C>A	ENST00000337938.2	+	5	1023	c.637C>A	c.(637-639)Cca>Aca	p.P213T	EDN3_ENST00000395654.3_Missense_Mutation_p.P199T|EDN3_ENST00000371025.3_3'UTR|EDN3_ENST00000371028.2_Missense_Mutation_p.P213T|EDN3_ENST00000311585.7_3'UTR	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	213					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	p.P213T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					CCTCCACCATCCAAAGCTCAT	0.532000													33	291					4.62619e-21	8.9097e-21	0.019004	1	0
C10orf137	26098	broad.mit.edu	37	10	127414293	127414293	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:127414293A>T	ENST00000337623.3	+	6	783	c.678A>T	c.(676-678)gcA>gcT	p.A226A	C10orf137_ENST00000356792.4_Silent_p.A226A	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	p.A226A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CATCCACCGCAGAACAGCAGG	0.468000													5	37					0	0	0.029380	0	0
TPTE	7179	broad.mit.edu	37	21	10951375	10951375	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:10951375G>A	ENST00000298232.7	-	9	650	c.283C>T	c.(283-285)Cta>Tta	p.L95L	TPTE_ENST00000342420.5_Silent_p.L75L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.L113L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	113					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L113L(1)|p.L95L(1)		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)		GTGAAAATTAGGTCGGCAAGG	0.318000													59	145					0	0	0.014410	0	0
PKHD1	5314	broad.mit.edu	37	6	51909775	51909775	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:51909775G>T	ENST00000371117.3	-	25	2979	c.2704C>A	c.(2704-2706)Cag>Aag	p.Q902K	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q902K	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	902					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.N901_Q902>KK(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAGTATGCTGGTTGGCAGTA	0.463000													12	43					7.03913e-09	9.99003e-09	0.013537	1	0
FASTKD5	60493	broad.mit.edu	37	20	3128165	3128165	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:3128165C>T	ENST00000380266.3	-	2	1873	c.1552G>A	c.(1552-1554)Gat>Aat	p.D518N	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	518					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.D518N(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACTGTACCATCGAGGGTATAT	0.443000													12	62					0	0	0.013537	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534754	5534754	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:5534754C>A	ENST00000397747.3	+	3	313	c.65C>A	c.(64-66)aCa>aAa	p.T22K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T22K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	22	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity	p.T22K(1)		large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GCTTTATTCACAGTGACAGTC	0.418000													19	97					3.51602e-12	5.70639e-12	0.008871	1	0
TAF1	6872	broad.mit.edu	37	X	70597538	70597538	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:70597538A>C	ENST00000449580.1	+	6	848	c.797A>C	c.(796-798)cAc>cCc	p.H266P	TAF1_ENST00000373790.4_Missense_Mutation_p.H266P|TAF1_ENST00000423759.1_Missense_Mutation_p.H287P|TAF1_ENST00000276072.3_Missense_Mutation_p.H287P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	266	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	p.H287P(1)|p.H266P(1)		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)				AAGAAGAAGCACCGTGAGCTG	0.488000													12	83					0	0	0.013537	0	0
OR4C13	283092	broad.mit.edu	37	11	49974729	49974729	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:49974729G>T	ENST00000555099.1	+	1	787	c.755G>T	c.(754-756)tGc>tTc	p.C252F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C252F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTATACCCTGCATATTTGTG	0.418000													4	111					2.56e-06	3.22168e-06	0.009096	1	0
LRP2	4036	broad.mit.edu	37	2	170131704	170131704	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:170131704C>G	ENST00000263816.3	-	14	2102	c.1817G>C	c.(1816-1818)gGa>gCa	p.G606A	LRP2_ENST00000443831.1_Missense_Mutation_p.G537A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	606					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G606A(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAAGCTTACTCCAAAGGGATG	0.388000													10	50					0	0	0.010729	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580732	15580732	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:15580732A>T	ENST00000292609.4	-	4	1481	c.1352T>A	c.(1351-1353)gTg>gAg	p.V451E	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.V451E			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	451					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.V451E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GTCCGAGCCCACCACGAAACT	0.687000													3	18					0	0	0.014758	0	0
CSMD1	64478	broad.mit.edu	37	8	3000072	3000072	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:3000072G>A	ENST00000520002.1	-	42	6714	c.6159C>T	c.(6157-6159)gcC>gcT	p.A2053A	CSMD1_ENST00000400186.3_Silent_p.A2053A|CSMD1_ENST00000602723.1_Silent_p.A2053A|CSMD1_ENST00000602557.1_Silent_p.A2053A|CSMD1_ENST00000537824.1_Silent_p.A2052A|CSMD1_ENST00000542608.1_Silent_p.A2052A|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.A2052A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2053	CUB 12.					integral to membrane		p.A2052A(1)|p.A1781A(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCTCAGCAGGGCCGCGGGGA	0.468000													8	74					0	0	0.004482	0	0
RGS3	5998	broad.mit.edu	37	9	116276913	116276913	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:116276913G>T	ENST00000374140.2	+	16	1862	c.1653G>T	c.(1651-1653)ctG>ctT	p.L551L	RGS3_ENST00000317613.6_Silent_p.L439L|RGS3_ENST00000394646.3_Silent_p.L270L|RGS3_ENST00000374136.1_Silent_p.L177L|RGS3_ENST00000350696.5_Silent_p.L551L|RGS3_ENST00000343817.5_Silent_p.L270L	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	551					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.L551L(1)|p.L447L(1)|p.L439L(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCAAAGTCCTGGTGTTCCCTG	0.597000													15	97					6.31663e-08	8.58956e-08	0.024245	1	0
SPEN	23013	broad.mit.edu	37	1	16258070	16258070	+	Missense_Mutation	SNP	G	G	T	rs140024761	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:16258070G>T	ENST00000375759.3	+	11	5539	c.5335G>T	c.(5335-5337)Gcc>Tcc	p.A1779S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1779					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A1779S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAGCCAGACGCCACTGCAGA	0.532000													17	163					3.73808e-20	7.10454e-20	0.027356	1	0
ACVR2A	92	broad.mit.edu	37	2	148683668	148683668	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:148683668C>T	ENST00000241416.7	+	10	1921	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Q321*|ACVR2A_ENST00000495775.1_3'UTR|ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Q429*	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	429	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.Q429*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGAAGACATGCAGGAAGTTGT	0.348000													28	78					0	0	0.030593	0	0
PKP2	5318	broad.mit.edu	37	12	32955375	32955375	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:32955375C>T	ENST00000340811.4	-	10	2237	c.2129G>A	c.(2128-2130)aGg>aAg	p.R710K	PKP2_ENST00000070846.6_Missense_Mutation_p.R754K	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	754					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.R754K(1)|p.R754M(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGACAGATTCCTCAGCAGCGA	0.453000													39	275					0	0	0.013114	0	0
CCDC141	285025	broad.mit.edu	37	2	179702053	179702053	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179702053G>T	ENST00000420890.2	-	23	4010	c.3893C>A	c.(3892-3894)cCc>cAc	p.P1298H	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P723H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	723							protein binding	p.P1298H(1)|p.P723H(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGTTAGTGGGGGCTCAGCTTT	0.468000													13	103					1.5842e-08	2.22404e-08	0.016723	1	0
MLH1	4292	broad.mit.edu	37	3	37042530	37042530	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:37042530G>T	ENST00000231790.2	+	3	508	c.292G>T	c.(292-294)Ggc>Tgc	p.G98C	MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Start_Codon_SNP_p.M1I|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	98			G -> S (associated with HNPCC2; has no effect on ex vivo splicing assay).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.G98C(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCTACCTATGGCTTTCGAGG	0.353000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	60					2.0095e-06	2.54863e-06	0.029380	1	0
TRAV17	28666	broad.mit.edu	37	14	22466369	22466369	+	RNA	SNP	G	G	C	rs138258262	by1000genomes	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:22466369G>C	ENST00000390445.2	+	0	446																											ACGGCTTCCCGGGCAGCAGAC	0.478000													6	30					0	0	0.003080	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997067	62997067	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:62997067G>T	ENST00000306494.6	-	1	57	c.58C>A	c.(58-60)Cag>Aag	p.Q20K	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	20					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AAAACCATCTGAAGGATCTGG	0.458000													6	52					5.4927e-09	7.84672e-09	0.004482	1	0
EFCAB12	90288	broad.mit.edu	37	3	129140308	129140308	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:129140308G>C	ENST00000505956.1	-	2	550	c.388C>G	c.(388-390)Ccc>Gcc	p.P130A	EFCAB12_ENST00000326085.3_Missense_Mutation_p.P130A	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.P130A(1)									GTGATGCTGGGCTTGTTCTCC	0.582000													54	72					0	0	0.014410	0	0
TPH1	7166	broad.mit.edu	37	11	18051103	18051103	+	Silent	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:18051103A>G	ENST00000250018.2	-	4	988	c.426T>C	c.(424-426)cgT>cgC	p.R142R	TPH1_ENST00000341556.2_Silent_p.R142R	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	142					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R142R(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTCGACGTTTACGGTAGACAT	0.264000													5	61					0	0	0.029380	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334628	69334628	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:69334628G>T	ENST00000305363.4	+	4	354	c.290G>T	c.(289-291)aGg>aTg	p.R97M		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	97	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R97M(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TCTCCATTAAGGGAAGAATTT	0.299000													7	33					0.00307968	0.003328	0.003080	1	0
CDH18	1016	broad.mit.edu	37	5	19838945	19838945	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:19838945G>T	ENST00000507958.1	-	5	1141	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	CDH18_ENST00000382275.1_Missense_Mutation_p.P51T|CDH18_ENST00000511273.1_Missense_Mutation_p.P51T|CDH18_ENST00000274170.4_Missense_Mutation_p.P51T|CDH18_ENST00000506372.1_Missense_Mutation_p.P51T|CDH18_ENST00000502796.1_Missense_Mutation_p.P51T			Q13634	CAD18_HUMAN	cadherin 18, type 2	51					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P51T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCCTTTTGGGACGATGATGG	0.418000													18	41					1.33834e-09	1.9637e-09	0.007413	1	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037434	33037434	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:33037434G>A	ENST00000419277.1	-	3	459	c.330C>T	c.(328-330)caC>caT	p.H110H	HLA-DPA1_ENST00000463066.1_5'UTR|HLA-DPA1_ENST00000428995.1_Silent_p.H110H	NM_001242524.1|NM_001242525.1	NP_001229453.1|NP_001229454.1	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP alpha 1	110	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.H110H(1)		kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						TGGCCTGAGTGTGGTTGGAAC	0.532000													31	93					0	0	0.010818	0	0
TNN	63923	broad.mit.edu	37	1	175092742	175092742	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:175092742G>T	ENST00000239462.4	+	12	2970	c.2857G>T	c.(2857-2859)Gtg>Ttg	p.V953L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	953	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.V953L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CATGGTGCACGTGTGGGCCCA	0.622000													14	85					0.00244969	0.00266049	0.020292	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765475	77765475	+	Silent	SNP	T	T	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:77765475T>G	ENST00000521891.2	+	10	6766	c.6318T>G	c.(6316-6318)tcT>tcG	p.S2106S	ZFHX4_ENST00000455469.2_Silent_p.S2061S|ZFHX4_ENST00000518282.1_Silent_p.S2080S|ZFHX4_ENST00000050961.6_Silent_p.S2061S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2061						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2090S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGCACTCTCTGCAGACCTCA	0.532000										HNSCC(33;0.089)			3	21					0	0	0.009096	0	0
SCN8A	6334	broad.mit.edu	37	12	52082842	52082842	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:52082842G>T	ENST00000550891.1	+	6	796	c.668G>T	c.(667-669)aGg>aTg	p.R223M	SCN8A_ENST00000545061.1_Intron|SCN8A_ENST00000354534.5_Intron			Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	223					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGAACATTCAGGGTTCTCCGA	0.438000													7	16					5.4927e-09	7.84672e-09	0.004482	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654172	43654172	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:43654172G>T	ENST00000374466.3	+	3	1006	c.671G>T	c.(670-672)cGc>cTc	p.R224L	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R224L	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	224					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.R224L(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGTTATTATCGCACTGAGAGA	0.398000													15	89					2.32078e-09	3.37852e-09	0.024245	1	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	37					0	0	0.009096	0	0
ERC2	26059	broad.mit.edu	37	3	56207487	56207487	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:56207487A>G	ENST00000288221.6	-	4	1391	c.1136T>C	c.(1135-1137)gTc>gCc	p.V379A		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	379						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.V379A(2)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CATTTCGATGACAGTCTGGAG	0.463000													4	59					0	0	0.014758	0	0
ANK2	287	broad.mit.edu	37	4	114276714	114276714	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:114276714G>T	ENST00000357077.4	+	38	6993	c.6940G>T	c.(6940-6942)Ggc>Tgc	p.G2314C	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2281C|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2281					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.G2314C(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGCCACTCTAGGCTCTCCCAA	0.502000													28	46					3.1745e-13	5.3181e-13	0.037714	1	0
DENND5A	23258	broad.mit.edu	37	11	9225561	9225561	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:9225561C>A	ENST00000328194.3	-	4	915	c.595G>T	c.(595-597)Gac>Tac	p.D199Y	DENND5A_ENST00000530044.1_Missense_Mutation_p.D199Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	199								p.D199Y(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TAGAGAGTGTCCCGGCTAATG	0.542000													16	85					1.67942e-08	2.35517e-08	0.006122	1	0
CCS	9973	broad.mit.edu	37	11	66368020	66368020	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:66368020G>T	ENST00000533244.1	+	5	930	c.489_splice	c.e5+1	p.R163_splice	CCS_ENST00000310190.4_Splice_Site_p.R144_splice	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	163	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	p.R163R(1)		breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACTCTGACCGGGTAAGTGTCT	0.532000													23	164					1.36565e-18	2.5362e-18	0.016522	1	0
ATP6V1C1	528	broad.mit.edu	37	8	104065051	104065051	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:104065051G>T	ENST00000395862.3	+	6	632		c.e6+1		ATP6V1C1_ENST00000521514.1_Splice_Site|ATP6V1C1_ENST00000518857.1_Splice_Site|ATP6V1C1_ENST00000518738.1_Splice_Site	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GAAAGAATGCGTAAGCAGATC	0.373000													4	17					0.00024832	0.000282924	0.009096	1	0
DLX2	1746	broad.mit.edu	37	2	172965595	172965595	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:172965595G>T	ENST00000234198.4	-	3	1024	c.663C>A	c.(661-663)caC>caA	p.H221Q	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H221Q(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGGCCCCAGGGTGCTGCTCCG	0.612000													20	48					1.01871e-10	1.57097e-10	0.008871	1	0
NLRX1	79671	broad.mit.edu	37	11	119044711	119044711	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:119044711C>G	ENST00000409109.1	+	5	1340	c.753C>G	c.(751-753)ttC>ttG	p.F251L	NLRX1_ENST00000409265.4_Missense_Mutation_p.F251L|NLRX1_ENST00000292199.2_Missense_Mutation_p.F251L|NLRX1_ENST00000409991.1_Missense_Mutation_p.F251L|NLRX1_ENST00000525863.1_Missense_Mutation_p.F251L			Q86UT6	NLRX1_HUMAN	NLR family member X1	251	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.F251L(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ACCTCGACTTCCGGCTGGCAG	0.597000													18	69					0	0	0.010504	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134030	91134030	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:91134030G>T	ENST00000373094.1	+	2	3636	c.2791G>T	c.(2791-2793)Gac>Tac	p.D931Y	PCDH11X_ENST00000361655.2_Missense_Mutation_p.D931Y|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D931Y|PCDH11X_ENST00000504220.1_Missense_Mutation_p.D931Y|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D931Y|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D931Y|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D931Y|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D931Y|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D931Y	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	931					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D931Y(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTTCAAGCCCGACAGCCCTGA	0.473000													23	121					7.87624e-14	1.34903e-13	0.016522	1	0
IL17RA	23765	broad.mit.edu	37	22	17581332	17581332	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:17581332G>T	ENST00000319363.6	+	5	644	c.511G>T	c.(511-513)Ggg>Tgg	p.G171W	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	171					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	p.G171W(1)		endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CATCCCTGATGGGGACCCAAA	0.547000													33	239					4.3181e-19	8.12378e-19	0.013726	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532176	84532176	+	RNA	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:84532176A>G	ENST00000527857.1	+	0	2198					NR_026851.1																						TCAGAGCAAAATTTCAGAGCT	0.478000													5	46					0	0	0.029380	0	0
GPR124	25960	broad.mit.edu	37	8	37692865	37692865	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:37692865C>T	ENST00000412232.2	+	12	1795	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	594					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F587F(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGCTCCGCTTCCGCTGCACCA	0.682000													28	32					0	0	0.012213	0	0
MMP16	4325	broad.mit.edu	37	8	89128873	89128873	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:89128873C>A	ENST00000286614.6	-	6	1227	c.946G>T	c.(946-948)Gac>Tac	p.D316Y	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	316					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.D316Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTCCTTGGGTCAGCCGGAGGA	0.532000													19	211					1.96292e-10	2.99156e-10	0.010504	1	0
ITGA8	8516	broad.mit.edu	37	10	15730001	15730001	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:15730001G>T	ENST00000378076.3	-	3	733	c.380C>A	c.(379-381)cCt>cAt	p.P127H		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	127					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P127H(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GAACTCGATAGGTTCTTTGGT	0.398000													25	99					2.48779e-11	3.91542e-11	0.027356	1	0
CDH10	1008	broad.mit.edu	37	5	24593550	24593550	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:24593550G>T	ENST00000264463.4	-	2	557	c.50C>A	c.(49-51)cCa>cAa	p.P17Q	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	17					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P17Q(1)		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)		GCAGAAATGTGGCAGGCATAC	0.403000										HNSCC(23;0.051)			8	29					4.68919e-08	6.43711e-08	0.008291	1	0
KIF13A	63971	broad.mit.edu	37	6	17764658	17764658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:17764658C>A	ENST00000378814.5	-	37	4956	c.4957G>T	c.(4957-4959)Gaa>Taa	p.E1653*	KIF13A_ENST00000259711.6_Nonsense_Mutation_p.E1701*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.E1653*|KIF13A_ENST00000378826.2_Nonsense_Mutation_p.E1666*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.E1666*	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1701					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.E1701*(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATCTAGTTCTGAACATGAG	0.532000													33	45					7.16026e-08	9.71643e-08	0.012213	1	0
ALKBH3	221120	broad.mit.edu	37	11	43940650	43940650	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:43940650G>C	ENST00000302708.4	+	9	1143	c.732G>C	c.(730-732)ttG>ttC	p.L244F	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3-AS1_ENST00000534287.1_RNA|ALKBH3-AS1_ENST00000528285.1_RNA|ALKBH3-AS1_ENST00000527960.1_RNA|ALKBH3-AS1_ENST00000499194.1_RNA	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	244	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L244F(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	ATGGGACCTTGTTAATCATGG	0.433000								Direct reversal of damage					18	137					0	0	0.006122	0	0
NFATC4	4776	broad.mit.edu	37	14	24845994	24845994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:24845994G>T	ENST00000413692.2	+	10	2884	c.2740G>T	c.(2740-2742)Gag>Tag	p.E914*	NFATC4_ENST00000555167.1_Nonsense_Mutation_p.E386*|NFATC4_ENST00000553879.1_Nonsense_Mutation_p.E781*|NFATC4_ENST00000556169.1_Intron|NFATC4_ENST00000555802.1_Nonsense_Mutation_p.E139*|NFATC4_ENST00000554473.1_Intron|NFATC4_ENST00000557451.1_Nonsense_Mutation_p.E781*|NFATC4_ENST00000539237.2_Nonsense_Mutation_p.E883*|NFATC4_ENST00000556759.1_Nonsense_Mutation_p.E386*|NFATC4_ENST00000555393.1_Nonsense_Mutation_p.E139*|NFATC4_ENST00000553469.1_Intron|NFATC4_ENST00000555590.1_Nonsense_Mutation_p.E864*|NFATC4_ENST00000554661.1_Intron|NFATC4_ENST00000422617.3_Nonsense_Mutation_p.E839*|NFATC4_ENST00000555453.1_Nonsense_Mutation_p.E839*|NFATC4_ENST00000554966.1_Intron|NFATC4_ENST00000424781.2_Nonsense_Mutation_p.E864*|NFATC4_ENST00000556279.1_Nonsense_Mutation_p.E883*|NFATC4_ENST00000553708.1_Nonsense_Mutation_p.E851*|NFATC4_ENST00000554591.1_Intron|NFATC4_ENST00000557767.1_Intron|NFATC4_ENST00000250373.4_Nonsense_Mutation_p.E851*|NFATC4_ENST00000554050.1_Intron|NFATC4_ENST00000554344.1_Nonsense_Mutation_p.E781*	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	851					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.E851*(1)|p.E914*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TGGCCCTGGGGAGGGGGCTCC	0.617000													45	145					7.05121e-23	1.38677e-22	0.010771	1	0
AMER1	139285	broad.mit.edu	37	X	63411430	63411430	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:63411430C>A	ENST00000330258.3	-	2	2009	c.1737G>T	c.(1735-1737)gaG>gaT	p.E579D	AMER1_ENST00000374869.3_Missense_Mutation_p.E579D|AMER1_ENST00000403336.1_Missense_Mutation_p.E579D	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.E579D(2)									CCTCCTGGGCCTCAAGCTGCT	0.617000													18	80					3.99206e-14	6.88286e-14	0.007413	1	0
PKLR	5313	broad.mit.edu	37	1	155269945	155269945	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:155269945A>T	ENST00000392414.3	-	2	247	c.134T>A	c.(133-135)cTg>cAg	p.L45Q	PKLR_ENST00000342741.4_Missense_Mutation_p.L76Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.L76K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTCAATGTCCAGTAGGCAGAG	0.602000													56	108					0	0	0.014410	0	0
SF3B2	10992	broad.mit.edu	37	11	65824773	65824773	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:65824773C>T	ENST00000528302.1	+	6	707	c.653C>T	c.(652-654)aCa>aTa	p.T218I	SF3B2_ENST00000322535.6_Missense_Mutation_p.T235I			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	235					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.T235I(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCACTCCTACAGTTTTGCCC	0.537000													35	245					0	0	0.017118	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209546	140209546	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140209546G>A	ENST00000529310.1	+	1	1984	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.V624M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGTTTCGCGTGGGGCTGTA	0.662000													24	123					0	0	0.021523	0	0
KIF1A	547	broad.mit.edu	37	2	241659303	241659303	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:241659303C>T	ENST00000498729.2	-	46	5155	c.4909G>A	c.(4909-4911)Gag>Aag	p.E1637K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1536K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1536	PH.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.E1536K(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCAGCAGCTCGGGCTCTGGG	0.697000													11	52					0	0	0.010729	0	0
CEP128	145508	broad.mit.edu	37	14	81244364	81244364	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:81244364C>A	ENST00000555265.1	-	16	2613	c.2238G>T	c.(2236-2238)atG>atT	p.M746I	CEP128_ENST00000281129.3_Missense_Mutation_p.M746I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	746						centriole|spindle pole		p.M746I(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GAATTTTAGCCATATTCTTCT	0.368000													11	56					0.000673444	0.000749552	0.008291	1	0
OR2W3	343171	broad.mit.edu	37	1	248059604	248059604	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:248059604G>T	ENST00000537741.1	+	3	973	c.716G>T	c.(715-717)gGc>gTc	p.G239V	OR2W3_ENST00000360358.3_Missense_Mutation_p.G239V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G239V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AAGGCCTTCGGCACCTGCGGC	0.527000													64	199					9.5628e-27	1.93038e-26	0.014410	1	0
TMC3	342125	broad.mit.edu	37	15	81637255	81637255	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:81637255C>G	ENST00000558726.1	-	13	1508	c.1373G>C	c.(1372-1374)cGg>cCg	p.R458P	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R457P|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	457						integral to membrane		p.R457P(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CATTCCAGGCCGAGATGTGGA	0.478000													6	39					0	0	0.021553	0	0
AGO2	27161	broad.mit.edu	37	8	141567245	141567245	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:141567245G>A	ENST00000220592.5	-	8	1081	c.969C>T	c.(967-969)ccC>ccT	p.P323P	AGO2_ENST00000519980.1_Silent_p.P323P	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.P323P(1)									ATGGGAGGTGGGGGTAGCGCA	0.597000													30	505					0	0	0.009535	0	0
OSBPL9	114883	broad.mit.edu	37	1	52226377	52226377	+	Missense_Mutation	SNP	G	G	C	rs61733665		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:52226377G>C	ENST00000371710.3	+	10	834	c.652G>C	c.(652-654)Gta>Cta	p.V218L	OSBPL9_ENST00000428468.1_Missense_Mutation_p.V200L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.V35L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.V187L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.V119L|OSBPL9_ENST00000473207.2_3'UTR|OSBPL9_ENST00000531828.1_Missense_Mutation_p.V35L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.V183L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.V22L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.V205L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.V22L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.V90L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.V210L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	200					lipid transport		lipid binding	p.V210L(2)|p.V200L(1)|p.V90L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TATTAATCCCGTAGATGCAAT	0.368000													7	50					0	0	0.029380	0	0
SLC26A7	115111	broad.mit.edu	37	8	92364058	92364058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:92364058C>A	ENST00000276609.3	+	10	1400	c.1161C>A	c.(1159-1161)tgC>tgA	p.C387*	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.C387*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.C387*	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	387						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	p.C387*(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAATATCTTGCATTTTCGTCC	0.368000													34	86					4.34311e-12	7.00501e-12	0.015359	1	0
HECTD3	79654	broad.mit.edu	37	1	45470039	45470039	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:45470039A>T	ENST00000372172.4	-	17	2224	c.2153T>A	c.(2152-2154)aTg>aAg	p.M718K	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.M328K	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	718	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity	p.M434K(1)|p.M718K(1)|p.M328K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ACCTGCCTGCATAGCTGCCAC	0.587000													15	136					0	0	0.006122	0	0
CYP46A1	10858	broad.mit.edu	37	14	100165801	100165801	+	Splice_Site	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:100165801A>G	ENST00000261835.3	+	4	386		c.e4-1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGGGATATTTAGAAGTTCCTG	0.478000													128	485					0	0	0.014410	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842204	8842204	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:8842204A>T	ENST00000324060.2	+	1	889	c.814A>T	c.(814-816)Aac>Tac	p.N272Y		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N272Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAGCAGGATAACGTGGTTTC	0.542000													51	136					0	0	0.014410	0	0
CCNB3	85417	broad.mit.edu	37	X	50051724	50051724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:50051724G>T	ENST00000376042.1	+	6	853	c.555G>T	c.(553-555)gaG>gaT	p.E185D	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E185D			Q8WWL7	CCNB3_HUMAN	cyclin B3	185					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.E185D(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAATCATGAGGAGGTGTCCT	0.393000													12	63					6.40141e-05	7.53789e-05	0.010729	1	0
ANXA11	311	broad.mit.edu	37	10	81923853	81923853	+	Missense_Mutation	SNP	C	C	A	rs140133265		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:81923853C>A	ENST00000438331.1	-	10	1387	c.905G>T	c.(904-906)cGc>cTc	p.R302L	ANXA11_ENST00000265447.4_Missense_Mutation_p.R302L|ANXA11_ENST00000422982.3_Missense_Mutation_p.R302L|ANXA11_ENST00000360615.4_Missense_Mutation_p.R302L|ANXA11_ENST00000372231.3_Missense_Mutation_p.R302L|ANXA11_ENST00000537102.1_Missense_Mutation_p.R269L|ANXA11_ENST00000535999.1_Missense_Mutation_p.R302L	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	302					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.R302L(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CTCATTGCTGCGGGAAGCGAG	0.572000													9	99					1.12685e-05	1.37938e-05	0.004482	1	0
TG	7038	broad.mit.edu	37	8	134025908	134025908	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:134025908G>C	ENST00000220616.4	+	37	6501	c.6461G>C	c.(6460-6462)tGt>tCt	p.C2154S	TG_ENST00000542445.1_Missense_Mutation_p.C524S|TG_ENST00000519543.1_Missense_Mutation_p.C287S|TG_ENST00000377869.1_Missense_Mutation_p.C2097S|TG_ENST00000522523.1_3'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2154					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.C2154S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGTGAGATGTATGTTCTAT	0.522000													30	155					0	0	0.037714	0	0
XIRP2	129446	broad.mit.edu	37	2	168100897	168100897	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:168100897C>T	ENST00000409195.1	+	9	3084	c.2995C>T	c.(2995-2997)Cat>Tat	p.H999Y	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H777Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.H999Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	824					actin cytoskeleton organization	cell junction	actin binding	p.H999Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGGAAAATATCATCAAGTAAA	0.408000													10	53					0	0	0.008291	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90572173	90572173	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:90572173G>T	ENST00000551025.1	+	0	2182							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	p.D249Y(1)		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)		AGGAAGAAAAGATATTAGACA	0.418000													41	151					3.09479e-21	5.97804e-21	0.027894	1	0
NAV2	89797	broad.mit.edu	37	11	19955082	19955082	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:19955082A>G	ENST00000396085.1	+	7	1653	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	NAV2_ENST00000527559.2_Missense_Mutation_p.E383G|NAV2_ENST00000360655.4_Missense_Mutation_p.E367G|NAV2_ENST00000540292.1_Missense_Mutation_p.E385G|NAV2_ENST00000396087.3_Missense_Mutation_p.E454G|NAV2_ENST00000349880.4_Missense_Mutation_p.E431G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	454						nucleus	ATP binding|helicase activity	p.E454G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCGGCTGGAGACTCTGCCC	0.607000													4	76					0	0	0.028581	0	0
NLRP7	199713	broad.mit.edu	37	19	55450980	55450980	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:55450980G>T	ENST00000588756.1	-	6	1693	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	NLRP7_ENST00000448121.2_Missense_Mutation_p.P403T|NLRP7_ENST00000340844.2_Missense_Mutation_p.P403T|NLRP7_ENST00000446217.1_Missense_Mutation_p.P431T|NLRP7_ENST00000328092.5_Missense_Mutation_p.P403T|NLRP7_ENST00000590030.1_Missense_Mutation_p.P403T|NLRP7_ENST00000592784.1_Missense_Mutation_p.P403T			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	403	NACHT.						ATP binding	p.P403T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCGCCCTGCGGGAACCGGCTG	0.701000													9	17					1.05317e-09	1.55405e-09	0.020292	1	0
FAT4	79633	broad.mit.edu	37	4	126241500	126241500	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:126241500A>T	ENST00000394329.3	+	1	3947	c.3934A>T	c.(3934-3936)Acc>Tcc	p.T1312S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1312	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1312S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACAATACCCCTTCTTT	0.388000													37	110					0	0	0.019004	0	0
CORO1C	23603	broad.mit.edu	37	12	109042473	109042473	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:109042473C>A	ENST00000261401.3	-	10	1385	c.1213G>T	c.(1213-1215)Gtc>Ttc	p.V405F	CORO1C_ENST00000549772.1_Missense_Mutation_p.V411F|CORO1C_ENST00000549384.1_5'UTR|CORO1C_ENST00000420959.2_Missense_Mutation_p.V458F|CORO1C_ENST00000421578.2_Missense_Mutation_p.V300F|CORO1C_ENST00000541050.1_Missense_Mutation_p.V405F	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	405					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	p.V405F(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TTCTTCTTGACCACCTTGAGA	0.517000													16	115					1.3612e-06	1.74858e-06	0.024245	1	0
SLC44A1	23446	broad.mit.edu	37	9	108136902	108136902	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:108136902C>A	ENST00000374720.3	+	13	1765	c.1518C>A	c.(1516-1518)atC>atA	p.I506I	SLC44A1_ENST00000343170.7_Silent_p.I298I|SLC44A1_ENST00000374723.1_Silent_p.I506I|SLC44A1_ENST00000374724.1_Silent_p.I506I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	506						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	p.I506I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	CCACAGCTATCAACAGCACCA	0.408000													19	188					1.50039e-11	2.37867e-11	0.012319	1	0
USH2A	7399	broad.mit.edu	37	1	215901708	215901708	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:215901708T>C	ENST00000366943.2	-	61	12116	c.11730A>G	c.(11728-11730)gaA>gaG	p.E3910E	USH2A_ENST00000307340.3_Silent_p.E3910E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3910	Fibronectin type-III 24.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E3910E(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGACTCCTCTTCAATGCCAG	0.443000										HNSCC(13;0.011)			5	64					0	0	0.014758	0	0
ABCC4	10257	broad.mit.edu	37	13	95861826	95861826	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:95861826C>A	ENST00000376887.4	-	6	761	c.647G>T	c.(646-648)tGg>tTg	p.W216L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.W216L|ABCC4_ENST00000536256.1_Missense_Mutation_p.W141L|ABCC4_ENST00000431522.1_Missense_Mutation_p.W216L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	216	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.W216L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGTCCTGCCCACAGGAAGTG	0.478000													8	69					1.76689e-08	2.46191e-08	0.006214	1	0
RELN	5649	broad.mit.edu	37	7	103270408	103270408	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:103270408C>T	ENST00000428762.1	-	20	2840	c.2681G>A	c.(2680-2682)tGt>tAt	p.C894Y	RELN_ENST00000343529.5_Missense_Mutation_p.C894Y|RELN_ENST00000424685.2_Missense_Mutation_p.C894Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	894					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.C894Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCGTGGCCACAGTATGGCTG	0.413000													17	97					0	0	0.008871	0	0
PKLR	5313	broad.mit.edu	37	1	155269946	155269946	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:155269946G>T	ENST00000392414.3	-	2	246	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	PKLR_ENST00000342741.4_Missense_Mutation_p.L76M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	76					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.L76K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCAATGTCCAGTAGGCAGAGG	0.607000													56	106					5.86059e-21	1.12537e-20	0.014410	1	0
KLHL1	57626	broad.mit.edu	37	13	70681381	70681381	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:70681381C>A	ENST00000377844.4	-	1	1210	c.451G>T	c.(451-453)Gag>Tag	p.E151*	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Nonsense_Mutation_p.E19*	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	151					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.E151*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTGTCTGGCTCCACTTTGAGC	0.527000													29	208					1.62565e-12	2.665e-12	0.012213	1	0
SHROOM3	57619	broad.mit.edu	37	4	77661931	77661931	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:77661931G>A	ENST00000296043.6	+	5	3558	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	869					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	p.G868R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCAGCTGAGCGGAGGAGCGTC	0.667000													21	40					0	0	0.012319	0	0
ANGEL1	23357	broad.mit.edu	37	14	77270204	77270204	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:77270204C>A	ENST00000251089.2	-	6	1544	c.1432G>T	c.(1432-1434)Gcc>Tcc	p.A478S	ANGEL1_ENST00000557179.1_Missense_Mutation_p.A43S	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	478								p.A478S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		CACAGTGGGGCCTGCAGCTTC	0.512000													44	218					2.13384e-23	4.20939e-23	0.014410	1	0
SPAM1	6677	broad.mit.edu	37	7	123594257	123594257	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:123594257G>A	ENST00000340011.5	+	3	990	c.633G>A	c.(631-633)cgG>cgA	p.R211R	SPAM1_ENST00000223028.7_Silent_p.R211R|SPAM1_ENST00000460182.1_Silent_p.R211R|SPAM1_ENST00000439500.1_Silent_p.R211R|SPAM1_ENST00000402183.2_Silent_p.R211R	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	211					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R211R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATTACTTCGGCCAAATCACT	0.373000													11	46					0	0	0.010729	0	0
FNIP2	57600	broad.mit.edu	37	4	159772515	159772515	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:159772515G>A	ENST00000264433.6	+	8	845	c.770G>A	c.(769-771)aGc>aAc	p.S257N	FNIP2_ENST00000379346.3_Missense_Mutation_p.S280N	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	257	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.S257N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCATCTCCAAGCTCCTCTACA	0.448000													74	333					0	0	0.014410	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769071	31769071	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:31769071C>G	ENST00000240587.4	-	2	1955	c.1628G>C	c.(1627-1629)aGc>aCc	p.S543T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	543					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S543T(1)|p.S360T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GCCCCCCCAGCTAGGAGTGCC	0.552000													38	256					0	0	0.027894	0	0
PRRX1	5396	broad.mit.edu	37	1	170695491	170695491	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:170695491C>A	ENST00000239461.6	+	3	861	c.548C>A	c.(547-549)cCt>cAt	p.P183H	PRRX1_ENST00000367760.3_Missense_Mutation_p.P183H|PRRX1_ENST00000497230.2_Missense_Mutation_p.P183H|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P183H(2)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTACCTCGTCCTGCTCCGAGA	0.557000													24	82					3.28513e-13	5.48929e-13	0.021523	1	0
MAPK10	5602	broad.mit.edu	37	4	87022299	87022299	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:87022299C>A	ENST00000395169.3	-	8	1242	c.522G>T	c.(520-522)agG>agT	p.R174S	MAPK10_ENST00000449047.2_Missense_Mutation_p.R67S|MAPK10_ENST00000359221.3_Missense_Mutation_p.R212S|MAPK10_ENST00000395157.3_Missense_Mutation_p.R67S|MAPK10_ENST00000361569.2_Missense_Mutation_p.R212S|MAPK10_ENST00000395166.1_Missense_Mutation_p.R174S|MAPK10_ENST00000395160.3_Missense_Mutation_p.R67S|MAPK10_ENST00000395161.2_Missense_Mutation_p.R212S	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	212	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding	p.R212S(1)|p.R67S(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TGCCTGCTGTCCTGGCCAGTC	0.448000													6	45					8.12818e-05	9.47681e-05	0.029380	1	0
SLC35B1	10237	broad.mit.edu	37	17	47783252	47783252	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:47783252C>A	ENST00000240333.6	-	4	467	c.346G>T	c.(346-348)Ggt>Tgt	p.G116C	SLC35B1_ENST00000415270.2_Missense_Mutation_p.G153C			P78383	S35B1_HUMAN	solute carrier family 35, member B1	116						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	p.G116C(1)		endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						CAGGATTTACCAAGGACCTGA	0.443000													12	99					6.40141e-05	7.53789e-05	0.010729	1	0
GOLM1	51280	broad.mit.edu	37	9	88651390	88651390	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:88651390C>A	ENST00000388712.3	-	7	798	c.630G>T	c.(628-630)ctG>ctT	p.L210L	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.L210L	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	210						Golgi apparatus|integral to plasma membrane		p.L210L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTGCTGCCTGCAGCCTGGGCT	0.582000													9	88					9.70103e-10	1.43637e-09	0.008291	1	0
ZNF804A	91752	broad.mit.edu	37	2	185801843	185801843	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:185801843G>T	ENST00000302277.6	+	4	2314	c.1720G>T	c.(1720-1722)Gat>Tat	p.D574Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	574						intracellular	zinc ion binding	p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GGACACTCTAGATGAAAAATA	0.299000													8	26					1.12685e-05	1.37938e-05	0.004482	1	0
SPTAN1	6709	broad.mit.edu	37	9	131369912	131369912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:131369912G>T	ENST00000358161.5	+	32	4189	c.4076G>T	c.(4075-4077)cGg>cTg	p.R1359L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R1359L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.R1359L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1359					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.R1359L(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AATGGAATACGGGGGTTGGTG	0.522000													78	262					3.1376e-36	6.56825e-36	0.014410	1	0
GALNTL6	442117	broad.mit.edu	37	4	173730517	173730517	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:173730517C>A	ENST00000506823.1	+	6	1216	c.559C>A	c.(559-561)Ctg>Atg	p.L187M	GALNTL6_ENST00000508122.1_Missense_Mutation_p.L170M	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	187	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L187M(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CCTAGAACACCTGAAGGATAA	0.438000													6	100					0.00116845	0.00128618	0.021553	1	0
SYT14	255928	broad.mit.edu	37	1	210267766	210267766	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:210267766C>A	ENST00000537238.1	+	6	819	c.428C>A	c.(427-429)cCc>cAc	p.P143H	SYT14_ENST00000472886.1_Missense_Mutation_p.P181H|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000399639.2_Missense_Mutation_p.P181H|SYT14_ENST00000367015.1_Missense_Mutation_p.P143H|SYT14_ENST00000422431.1_Missense_Mutation_p.P226H|SYT14_ENST00000534859.1_Missense_Mutation_p.P181H|SYT14_ENST00000367019.1_Missense_Mutation_p.P181H	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	181						integral to membrane		p.P181H(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TCATGTACACCCTCAGAAATT	0.473000													8	36					0.00621372	0.00664295	0.006214	1	0
CYP2A13	1553	broad.mit.edu	37	19	41594903	41594903	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:41594903C>T	ENST00000330436.3	+	2	250	c.250C>T	c.(250-252)Cat>Tat	p.H84Y		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	84					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.H84Y(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTGTGCGGACATGATGCCGT	0.627000													19	102					0	0	0.007413	0	0
WSCD2	9671	broad.mit.edu	37	12	108641767	108641767	+	Splice_Site	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:108641767G>C	ENST00000332082.4	+	10	2163		c.e10-1		WSCD2_ENST00000549903.1_Splice_Site|WSCD2_ENST00000547525.1_Splice_Site|WSCD2_ENST00000261400.3_Splice_Site			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2							integral to membrane		p.?(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCTCTCTGCAGAGTGGCCAGA	0.542000													12	86					0	0	0.010729	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139367	90139367	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:90139367G>T	ENST00000492446.1	+	0	165																											TCACTTGTCGGGCGAGTCAGG	0.507000													20	194					2.4375e-19	4.60574e-19	0.034045	1	0
THRAP3	9967	broad.mit.edu	37	1	36758225	36758225	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:36758225A>G	ENST00000354618.5	+	7	2169	c.1945A>G	c.(1945-1947)Aca>Gca	p.T649A	THRAP3_ENST00000469141.2_Missense_Mutation_p.T649A|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	649					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T649A(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCAGGAATGACATTACATGA	0.468000			T	USP6	aneurysmal bone cysts								30	348					0	0	0.012213	0	0
GRIA2	2891	broad.mit.edu	37	4	158257624	158257624	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:158257624C>T	ENST00000296526.7	+	11	1894	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	GRIA2_ENST00000449365.1_Silent_p.I476I|GRIA2_ENST00000264426.9_Silent_p.I523I|GRIA2_ENST00000393815.2_Silent_p.I476I|GRIA2_ENST00000507898.1_Silent_p.I476I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	523					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I523I(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GGATATCTATCATGATCAAGA	0.423000													10	151					0	0	0.006214	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876886	53876886	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:53876886G>A	ENST00000267079.2	-	12	1827	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	MAP3K12_ENST00000547488.1_Silent_p.P567P|MAP3K12_ENST00000547035.1_Silent_p.P567P	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	534					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.P534P(1)|p.P567P(1)		NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTGGTGAGGGGGGGCCCTTAG	0.637000													32	82					0	0	0.012213	0	0
PLCL1	5334	broad.mit.edu	37	2	199011651	199011651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:199011651G>T	ENST00000428675.1	+	6	3651	c.3253G>T	c.(3253-3255)Gag>Tag	p.E1085*	PLCL1_ENST00000437704.2_Nonsense_Mutation_p.E987*	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1085					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1085*(1)|p.E987*(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCCATAGAGGAGAAGGAAAG	0.517000													7	24					4.68919e-08	6.43711e-08	0.008291	1	0
SLC7A14	57709	broad.mit.edu	37	3	170219108	170219108	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:170219108G>C	ENST00000231706.4	-	3	646	c.331C>G	c.(331-333)Cga>Gga	p.R111G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	111						integral to membrane	amino acid transmembrane transporter activity	p.R111G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTGGGGACTCGAACTCCAAAC	0.507000													4	52					0	0	0.014758	0	0
FAT3	120114	broad.mit.edu	37	11	92616436	92616436	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:92616436C>T	ENST00000298047.6	+	23	12831	c.12814C>T	c.(12814-12816)Cgc>Tgc	p.R4272C	FAT3_ENST00000533797.1_Missense_Mutation_p.R607C|FAT3_ENST00000409404.2_Missense_Mutation_p.R4272C|FAT3_ENST00000525166.1_Missense_Mutation_p.R4122C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4272					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R4272C(2)|p.R847C(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGTCGCCCCGCATCCTGAC	0.652000										TCGA Ovarian(4;0.039)			62	112					0	0	0.014410	0	0
RPL14	9045	broad.mit.edu	37	3	40499405	40499405	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:40499405G>T	ENST00000396203.2	+	2	160	c.28G>T	c.(28-30)Ggc>Tgc	p.G10C	RPL14_ENST00000416518.1_Missense_Mutation_p.G10C|RPL14_ENST00000338970.6_Missense_Mutation_p.G10C	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	10					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGTGGAGGTTGGCCGGGTGGC	0.448000													19	168					4.96729e-08	6.7902e-08	0.008871	1	0
LAMB4	22798	broad.mit.edu	37	7	107720070	107720070	+	Silent	SNP	G	G	T	rs145534341	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:107720070G>T	ENST00000388781.3	-	15	1946	c.1863C>A	c.(1861-1863)acC>acA	p.T621T	LAMB4_ENST00000205386.4_Silent_p.T621T|LAMB4_ENST00000414450.2_Silent_p.T621T|LAMB4_ENST00000388780.3_Silent_p.T621T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	621	Laminin IV type B.				cell adhesion	basement membrane		p.T621T(1)		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						GAATGGCAATGGTGAAGTCCA	0.463000													13	85					7.93312e-07	1.03028e-06	0.020292	1	0
MLLT10	8028	broad.mit.edu	37	10	21962656	21962656	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:21962656G>T	ENST00000377072.3	+	11	1777	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	MLLT10_ENST00000446906.2_Missense_Mutation_p.G477W|MLLT10_ENST00000377059.3_Missense_Mutation_p.G477W|MLLT10_ENST00000307729.7_Missense_Mutation_p.G477W	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	477	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G477W(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AAGTAAGCATGGGCCTGGCAG	0.423000			T	"""MLL, PICALM, CDK6"""	AL								28	90					2.41591e-17	4.43599e-17	0.024334	1	0
PLCXD3	345557	broad.mit.edu	37	5	41313851	41313851	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:41313851C>A	ENST00000377801.3	-	3	908	c.834G>T	c.(832-834)caG>caT	p.Q278H	PLCXD3_ENST00000328457.3_Missense_Mutation_p.Q278H			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	278					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.Q278H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGCGGACCCACTGCATCATGG	0.433000													5	36					1.23904e-05	1.51102e-05	0.014758	1	0
EPHB1	2047	broad.mit.edu	37	3	134670266	134670266	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:134670266G>T	ENST00000398015.3	+	3	547	c.177G>T	c.(175-177)caG>caT	p.Q59H	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	59						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.Q59H(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GCACCTACCAGGTGTGCAATG	0.527000													5	26					8.12818e-05	9.47681e-05	0.029380	1	0
CYC1	1537	broad.mit.edu	37	8	145150838	145150838	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:145150838C>G	ENST00000318911.4	+	2	305	c.232C>G	c.(232-234)Ctg>Gtg	p.L78V		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	78					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.L78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCATGGCTCTGCATTCGGC	0.652000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	112					0	0	0.007413	0	0
AIM2	9447	broad.mit.edu	37	1	159035909	159035909	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159035909G>T	ENST00000368130.4	-	4	895	c.607C>A	c.(607-609)Cca>Aca	p.P203T	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	203	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.P203T(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATTCTCTTTGGAATGAATTTA	0.368000													31	154					6.38683e-12	1.02886e-11	0.037714	1	0
FANCM	57697	broad.mit.edu	37	14	45645702	45645702	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:45645702A>G	ENST00000267430.5	+	14	3830	c.3745A>G	c.(3745-3747)Aca>Gca	p.T1249A	FANCM_ENST00000542564.2_Missense_Mutation_p.T1223A	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1249					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.T1249A(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATTGGAACATACATCAGATAG	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	56					0	0	0.008291	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394414	39394414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:39394414C>A	ENST00000254072.6	+	1	118	c.111C>A	c.(109-111)tgC>tgA	p.C37*		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	37	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			AGCCCTCCTGCTGTGTGTCCA	0.627000													4	94					0.000274275	0.000311404	0.004482	1	0
FAM13B	51306	broad.mit.edu	37	5	137354124	137354124	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:137354124G>A	ENST00000033079.3	-	4	688	c.237C>T	c.(235-237)agC>agT	p.S79S	FAM13B_ENST00000420893.2_Silent_p.S79S|FAM13B_ENST00000425075.2_5'UTR	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	79	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S79S(1)		endometrium(4)|kidney(2)|lung(5)	11						CCTCTTCTCCGCTGTCGTATC	0.458000													9	72					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179613916	179613916	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179613916C>A	ENST00000360870.5	-	46	13433	c.13211G>T	c.(13210-13212)aGa>aTa	p.R4404I	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	534	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCTGATCTACCAAGTTT	0.328000													6	35					0.0215528	0.0223612	0.021553	1	0
BAGE2	85319	broad.mit.edu	37	21	11047590	11047590	+	RNA	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:11047590G>T	ENST00000470054.1	-	0	664									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)		ATCTTCTCCCGATTGTCTAAA	0.373000													24	506					7.88262e-20	1.49597e-19	0.018920	1	0
LIFR	3977	broad.mit.edu	37	5	38496683	38496683	+	Silent	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:38496683A>G	ENST00000263409.4	-	13	1848	c.1686T>C	c.(1684-1686)aaT>aaC	p.N562N	LIFR_ENST00000453190.2_Silent_p.N562N|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	562	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.N562N(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CATTAGCTTCATTAATGGGTA	0.383000			T	PLAG1	salivary adenoma								14	136					0	0	0.016723	0	0
NWD1	284434	broad.mit.edu	37	19	16910888	16910888	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:16910888C>G	ENST00000524140.2	+	17	4069	c.3651C>G	c.(3649-3651)ctC>ctG	p.L1217L	NWD1_ENST00000552788.1_Silent_p.L1217L|NWD1_ENST00000549814.1_Silent_p.L1175L|NWD1_ENST00000523826.1_Silent_p.L1011L|NWD1_ENST00000379808.3_Silent_p.L1217L|NWD1_ENST00000339803.6_Silent_p.L1082L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1217							ATP binding	p.L1217L(1)|p.L1082L(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCACCGGCCTCACCGCAGTGT	0.522000													48	124					0	0	0.014410	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595759	140595759	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140595759C>A	ENST00000341948.4	+	1	2251	c.2064C>A	c.(2062-2064)gtC>gtA	p.V688V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		688					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.V688V(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCACCGTCTACCTGGTGG	0.692000													57	244					1.44317e-28	2.94063e-28	0.014410	1	0
RBFOX2	23543	broad.mit.edu	37	22	36206048	36206048	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:36206048T>C	ENST00000405409.2	-	2	399	c.31A>G	c.(31-33)Aac>Gac	p.N11D	RBFOX2_ENST00000359369.4_5'UTR|RBFOX2_ENST00000262829.7_Missense_Mutation_p.N11D|RBFOX2_ENST00000449924.2_Missense_Mutation_p.N11D|RBFOX2_ENST00000438146.2_Missense_Mutation_p.N81D|RBFOX2_ENST00000414461.2_Missense_Mutation_p.N11D|RBFOX2_ENST00000416721.2_Missense_Mutation_p.N11D|RBFOX2_ENST00000397303.2_5'UTR	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	21					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	p.N11D(1)		endometrium(4)|large_intestine(7)|lung(7)	18						GGCTCCTGGTTACCCTAAAAC	0.408000													16	68					0	0	0.028581	0	0
ITGB3	3690	broad.mit.edu	37	17	45360745	45360745	+	Missense_Mutation	SNP	G	G	C	rs74554539		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:45360745G>C	ENST00000559488.1	+	3	207	c.191G>C	c.(190-192)tGt>tCt	p.C64S	ITGB3_ENST00000560629.1_Silent_p.L52L|ITGB3_ENST00000571680.1_Missense_Mutation_p.C64S|ITGB3_ENST00000435993.2_Missense_Mutation_p.C17S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	64					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.C64S(1)|p.C17S(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TCACCTCGCTGTGACCTGAAG	0.577000													27	53					0	0	0.030593	0	0
DISP1	84976	broad.mit.edu	37	1	223176687	223176687	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:223176687A>G	ENST00000284476.6	+	8	2112	c.1948A>G	c.(1948-1950)Aca>Gca	p.T650A		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	650	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.T650A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTGATGGTCACATGGCTTCC	0.413000													45	155					0	0	0.013114	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137638	40137638	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:40137638C>A	ENST00000278198.2	-	2	2168	c.205G>T	c.(205-207)Gag>Tag	p.E69*	LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.E69*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.E69*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.E69*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	69	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding	p.E69*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TCCGGAACCTCACGCAGGTTT	0.527000													10	85					0.000442599	0.000498595	0.006214	1	0
MYH8	4626	broad.mit.edu	37	17	10303891	10303891	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:10303891G>T	ENST00000403437.2	-	27	3645	c.3551C>A	c.(3550-3552)gCc>gAc	p.A1184D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1184					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.A1184D(1)		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						CTGCAGGGTGGCCTCCTCCAG	0.567000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				23	126					1.64293e-13	2.77019e-13	0.018920	1	0
SPANXN2	494119	broad.mit.edu	37	X	142795594	142795594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:142795594C>A	ENST00000370498.1	-	2	837	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	28								p.Q28H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGTGCCTCCTGCATCTGAT	0.428000													35	80					1.45844e-13	2.46871e-13	0.013726	1	0
NOXRED1	122945	broad.mit.edu	37	14	77880278	77880278	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:77880278C>A	ENST00000380835.2	-	2	514	c.349_splice	c.e2+1	p.L116_splice	NOXRED1_ENST00000298358.3_Splice_Site_p.L116_splice	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	116					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	p.L116L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						GCTCCTCACCCAGAGTCTCTG	0.572000													12	31					1.05317e-09	1.55405e-09	0.020292	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26156939	26156939	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:26156939C>G	ENST00000304218.3	+	1	381	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	107	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.L107L(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCTTCAAACTCAACAAGAAGG	0.607000													3	89					0	0	0.009096	0	0
LEPRE1	64175	broad.mit.edu	37	1	43232495	43232495	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:43232495C>A	ENST00000236040.4	-	1	188	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	LEPRE1_ENST00000397054.3_Missense_Mutation_p.D50Y|LEPRE1_ENST00000296388.5_Missense_Mutation_p.D50Y	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	50					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.D50Y(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGGGCCAGTCCCCGCGCGCG	0.736000													5	40					0.014758	0.0153852	0.014758	1	0
ADAMTS4	9507	broad.mit.edu	37	1	161165959	161165959	+	Splice_Site	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:161165959A>T	ENST00000367996.4	-	3	1519		c.e3+1		ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding	p.?(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCCCTACTTTACCCAGTTCAT	0.562000													62	139					0	0	0.014410	0	0
GPR158	57512	broad.mit.edu	37	10	25510017	25510017	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:25510017G>T	ENST00000376351.3	+	2	1298	c.939G>T	c.(937-939)gtG>gtT	p.V313V		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	313						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V313V(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCAGAAAGTGGACATTGACC	0.333000													16	59					1.56452e-12	2.56803e-12	0.007413	1	0
NCKAP1	10787	broad.mit.edu	37	2	183832073	183832073	+	Nonsense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:183832073G>C	ENST00000360982.2	-	17	2275	c.1517C>G	c.(1516-1518)tCa>tGa	p.S506*	NCKAP1_ENST00000361354.3_Nonsense_Mutation_p.S500*	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	500					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.S506*(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGAAGCCTTTGAGACACTAGT	0.348000													10	46					0	0	0.006214	0	0
CLCN2	1181	broad.mit.edu	37	3	184076898	184076898	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:184076898C>A	ENST00000265593.4	-	2	256	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CLCN2_ENST00000457512.1_Missense_Mutation_p.D29Y|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.D29Y|CLCN2_ENST00000344937.7_Missense_Mutation_p.D29Y|CLCN2_ENST00000423355.2_5'UTR	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	29						chloride channel complex	voltage-gated chloride channel activity	p.D29Y(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCCCCAAGGTCCTGAGTGTAC	0.607000													38	116					1.04594e-18	1.94524e-18	0.025465	1	0
CCL22	6367	broad.mit.edu	37	16	57392777	57392777	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:57392777G>A	ENST00000219235.4	+	1	94	c.49G>A	c.(49-51)Gtg>Atg	p.V17M		NM_002990.4	NP_002981.2	O00626	CCL22_HUMAN	chemokine (C-C motif) ligand 22	17					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to virus|signal transduction	extracellular space	chemokine activity	p.V17M(1)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CCTCCTTGCTGTGGCGCTTCA	0.582000													15	128					0	0	0.028581	0	0
SLC9A1	6548	broad.mit.edu	37	1	27426944	27426944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:27426944C>A	ENST00000263980.3	-	12	2877	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	SLC9A1_ENST00000545949.1_Nonsense_Mutation_p.E429*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	768					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.E768*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GACGAAGTCTCCTTGCTCCGC	0.617000													57	194					6.77423e-14	1.16181e-13	0.014410	1	0
AMOT	154796	broad.mit.edu	37	X	112024186	112024186	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:112024186G>T	ENST00000371959.3	-	9	2400	c.2401C>A	c.(2401-2403)Cac>Aac	p.H801N	AMOT_ENST00000371958.1_Missense_Mutation_p.H569N|AMOT_ENST00000304758.1_Missense_Mutation_p.H392N|AMOT_ENST00000524145.1_Missense_Mutation_p.H801N|AMOT_ENST00000371962.1_Missense_Mutation_p.H569N	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	801					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.H392N(2)|p.H801N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTGGATGAGTGGGAGAGCAAG	0.537000													33	332					2.81731e-10	4.27863e-10	0.010818	1	0
MCM3AP	8888	broad.mit.edu	37	21	47692686	47692686	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:47692686T>A	ENST00000397708.1	-	9	2508	c.2254A>T	c.(2254-2256)Acc>Tcc	p.T752S	MCM3AP_ENST00000291688.1_Missense_Mutation_p.T752S			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	752					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.T752S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGAAACCGGGTGCACTTCTCA	0.552000													5	97					0	0	0.014758	0	0
NTNG1	22854	broad.mit.edu	37	1	107937801	107937801	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:107937801G>C	ENST00000370067.1	+	4	1540	c.913G>C	c.(913-915)Gta>Cta	p.V305L	NTNG1_ENST00000370068.1_Missense_Mutation_p.V305L|NTNG1_ENST00000370073.2_Missense_Mutation_p.V305L|NTNG1_ENST00000370071.2_Missense_Mutation_p.V305L|NTNG1_ENST00000370074.4_Missense_Mutation_p.V305L|NTNG1_ENST00000542803.1_Missense_Mutation_p.V305L|NTNG1_ENST00000370072.3_Missense_Mutation_p.V305L|NTNG1_ENST00000370061.3_Missense_Mutation_p.V305L|NTNG1_ENST00000370065.1_Missense_Mutation_p.V305L|NTNG1_ENST00000370070.2_Missense_Mutation_p.V305L|NTNG1_ENST00000370066.1_Missense_Mutation_p.V305L			Q9Y2I2	NTNG1_HUMAN	netrin G1	305	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding	p.V305L(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CCATGCCACTGTATGTGTGTA	0.468000													15	134					0	0	0.024245	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564725	33564725	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:33564725G>C	ENST00000321505.4	+	1	905	c.725G>C	c.(724-726)aGa>aCa	p.R242T	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R242T|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R242T					KIAA1549-like									p.R242T(2)									CCTGCAACTAGAGACTTGCTC	0.507000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	112					0	0	0.014410	0	0
PIAS1	8554	broad.mit.edu	37	15	68378695	68378695	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:68378695G>T	ENST00000545237.1	+	3	823	c.82G>T	c.(82-84)Gcc>Tcc	p.A28S	PIAS1_ENST00000249636.6_Missense_Mutation_p.A26S			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	26	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.A26S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GTTGGGCTACGCCGGGAGAAA	0.398000													9	12					3.09899e-07	4.08174e-07	0.004482	1	0
OR52A4P	390053	broad.mit.edu	37	11	5142639	5142639	+	RNA	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:5142639G>A	ENST00000498233.1	-	0	759																		p.P57L(1)		breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATGGAGGCTTGGCTCAGATTT	0.423000													16	65					0	0	0.024245	0	0
CSMD3	114788	broad.mit.edu	37	8	113569067	113569067	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113569067G>C	ENST00000297405.5	-	25	4403	c.4159C>G	c.(4159-4161)Ctc>Gtc	p.L1387V	CSMD3_ENST00000455883.2_Missense_Mutation_p.L1283V|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1387V|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1347V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1387	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTCCGTGGAGAGTGTAGCCT	0.473000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			3	35					0	0	0.004672	0	0
MEGF8	1954	broad.mit.edu	37	19	42863308	42863308	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:42863308G>T	ENST00000334370.4	+	30	5836	c.5201G>T	c.(5200-5202)gGg>gTg	p.G1734V	MEGF8_ENST00000251268.6_Missense_Mutation_p.G1801V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1801						integral to membrane	calcium ion binding|structural molecule activity	p.G1342V(1)|p.G1734V(1)|p.G1801V(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGGTTCTTGGGGGGCGCTCG	0.647000													5	10					0.014758	0.0153852	0.014758	1	0
FLG2	388698	broad.mit.edu	37	1	152328819	152328819	+	Silent	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152328819T>C	ENST00000388718.5	-	3	1515	c.1443A>G	c.(1441-1443)caA>caG	p.Q481Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	481	Ser-rich.						calcium ion binding|structural molecule activity	p.Q481Q(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGACCCATGTTGTCCAAAGC	0.527000													41	609					0	0	0.030466	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957869	120957869	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:120957869T>A	ENST00000273666.6	+	13	1507	c.1236T>A	c.(1234-1236)gtT>gtA	p.V412V	STXBP5L_ENST00000492541.1_Silent_p.V412V|STXBP5L_ENST00000497029.1_Silent_p.V412V|STXBP5L_ENST00000472879.1_Silent_p.V412V|STXBP5L_ENST00000471454.1_Silent_p.V412V	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	412					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.V412V(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATCACCAGTTACATGCACAG	0.318000													6	18					0	0	0.021553	0	0
HSD17B4	3295	broad.mit.edu	37	5	118814643	118814643	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:118814643G>A	ENST00000504811.1	+	9	808	c.624G>A	c.(622-624)agG>agA	p.R208R	HSD17B4_ENST00000513628.1_Silent_p.R46R|HSD17B4_ENST00000414835.2_Silent_p.R43R|HSD17B4_ENST00000256216.6_Silent_p.R183R|HSD17B4_ENST00000515320.1_Silent_p.R165R|HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000510025.1_Silent_p.R159R	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	183	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.R183R(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTGAAGGCAGGAAAAGCAACA	0.433000													19	107					0	0	0.010504	0	0
AP5Z1	9907	broad.mit.edu	37	7	4826038	4826038	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:4826038G>C	ENST00000348624.4	+	10	1384	c.1290G>C	c.(1288-1290)ttG>ttC	p.L430F	AP5Z1_ENST00000401897.1_Missense_Mutation_p.L430F	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	430					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	p.L1141F(1)|p.L274F(1)									CCCTCAGATTGAGCTTCCCCA	0.592000													13	332					0	0	0.016723	0	0
CSMD3	114788	broad.mit.edu	37	8	113246653	113246653	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:113246653C>A	ENST00000297405.5	-	68	10925	c.10681G>T	c.(10681-10683)Gta>Tta	p.V3561L	CSMD3_ENST00000455883.2_Missense_Mutation_p.V3392L|CSMD3_ENST00000352409.3_Missense_Mutation_p.V3491L|CSMD3_ENST00000343508.3_Missense_Mutation_p.V3521L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3561						integral to membrane|plasma membrane		p.V3561L(2)|p.V3521L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGCAGGTACTTTAATAAGA	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	282					3.7963e-18	7.01022e-18	0.018920	1	0
SYNPO2	171024	broad.mit.edu	37	4	119952640	119952640	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:119952640A>T	ENST00000307142.4	+	4	2906	c.2710A>T	c.(2710-2712)Act>Tct	p.T904S	SYNPO2_ENST00000429713.2_Missense_Mutation_p.T904S|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T904S	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	904						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	p.T904S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCAGTCTCCCACTCCATCTCT	0.567000													9	93					0	0	0.006214	0	0
PTK7	5754	broad.mit.edu	37	6	43106643	43106643	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:43106643G>T	ENST00000230419.4	+	8	1506	c.1285G>T	c.(1285-1287)Ggc>Tgc	p.G429C	PTK7_ENST00000352931.2_Missense_Mutation_p.G429C|PTK7_ENST00000481273.1_Missense_Mutation_p.G437C|PTK7_ENST00000345201.2_Missense_Mutation_p.G429C|PTK7_ENST00000349241.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	429	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G429C(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGGCAAACCCGGCTACTTGGA	0.537000													61	147					1.22119e-34	2.53602e-34	0.014410	1	0
MYH6	4624	broad.mit.edu	37	14	23859650	23859650	+	Silent	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:23859650G>C	ENST00000405093.3	-	26	3418	c.3348C>G	c.(3346-3348)cgC>cgG	p.R1116R	MYH6_ENST00000356287.3_Silent_p.R1116R	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1116					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R1116R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		gctcctcGATGCGTGCCTGGG	0.637000													13	35					0	0	0.033300	0	0
PRKG1	5592	broad.mit.edu	37	10	54032160	54032160	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:54032160G>T	ENST00000373980.4	+	12	1739	c.1322G>T	c.(1321-1323)aGa>aTa	p.R441I	PRKG1_ENST00000401604.2_Missense_Mutation_p.R426I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R144I|PRKG1_ENST00000373985.1_Missense_Mutation_p.R414I|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	426	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.R426I(1)|p.R441I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AGACTGTACAGAACATTTAAG	0.353000													3	24					0.004672	0.00500297	0.004672	1	0
PCDHB3	56132	broad.mit.edu	37	5	140481566	140481566	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140481566A>C	ENST00000231130.2	+	1	1333	c.1333A>C	c.(1333-1335)Aat>Cat	p.N445H	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		445	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N445H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCGACGTCAATGACAACGC	0.562000													26	186					0	0	0.030593	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969814	117969814	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:117969814G>T	ENST00000534111.1	+	3	416		c.e3+1		TMPRSS4_ENST00000522824.1_Splice_Site|TMPRSS4_ENST00000522307.1_Intron|TMPRSS4_ENST00000437212.3_Splice_Site|TMPRSS4_ENST00000523251.1_Intron	NM_001083947.1|NM_001173551.1|NM_019894.3	NP_001077416.1|NP_001167022.1|NP_063947.1	Q9NRS4	TMPS4_HUMAN	transmembrane protease, serine 4						proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.?(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GTTGTCCTCAGTAAGTGACAG	0.562000													18	78					7.81268e-19	1.45717e-18	0.033300	1	0
SLC12A7	10723	broad.mit.edu	37	5	1094281	1094281	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:1094281C>A	ENST00000264930.5	-	2	250	c.207G>T	c.(205-207)atG>atT	p.M69I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	69					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.M69I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CGAAAAGTGCCATGTTCTTCC	0.488000													20	253					1.01871e-10	1.57097e-10	0.008871	1	0
OMA1	115209	broad.mit.edu	37	1	58996336	58996336	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:58996336C>A	ENST00000371226.3	-	6	1190	c.1077G>T	c.(1075-1077)tgG>tgT	p.W359C	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.W359C	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	359					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.W359C(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GACAAATGGCCCAAATCATTG	0.373000													10	51					1.08611e-07	1.46012e-07	0.010729	1	0
HRNR	388697	broad.mit.edu	37	1	152193740	152193740	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:152193740C>T	ENST00000368801.2	-	3	440	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	122			R -> W (in dbSNP:rs57277761).		keratinization		calcium ion binding|protein binding	p.R122Q(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATTCTTGCCGTTTGTTCTC	0.428000													25	280					0	0	0.018920	0	0
ASB18	401036	broad.mit.edu	37	2	237123093	237123093	+	Missense_Mutation	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:237123093G>C	ENST00000330842.6	-	3	1020	c.926C>G	c.(925-927)tCc>tGc	p.S309C	AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Missense_Mutation_p.S338C			Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	338					intracellular signal transduction			p.I130M(1)|p.S338C(1)		large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GAGAGCGCAGGATGCGGTCTG	0.731000													3	8					0	0	0.009096	0	0
ICAM3	3385	broad.mit.edu	37	19	10449401	10449401	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:10449401G>A	ENST00000589261.1	-	2	601	c.69C>T	c.(67-69)tgC>tgT	p.C23C	ICAM3_ENST00000160262.5_Silent_p.C100C			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	100					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.C100C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GAGAGCCATTGCAGTACACTG	0.572000													19	96					0	0	0.008871	0	0
SYNE1	23345	broad.mit.edu	37	6	152469245	152469245	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:152469245G>T	ENST00000367255.5	-	137	25512	c.24911C>A	c.(24910-24912)cCc>cAc	p.P8304H	SYNE1_ENST00000539504.1_Missense_Mutation_p.P459H|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7916H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.P8233H|SYNE1_ENST00000354674.4_Missense_Mutation_p.P459H|SYNE1_ENST00000356820.4_Missense_Mutation_p.P2828H|SYNE1_ENST00000265368.4_Missense_Mutation_p.P8304H|SYNE1_ENST00000448038.1_Missense_Mutation_p.P8233H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8304					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	p.P8304H(2)|p.P8233H(1)		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)		ATCCTCAGAGGGCAGAGCTCT	0.552000										HNSCC(10;0.0054)			26	53					1.17739e-12	1.94487e-12	0.027356	1	0
ZBBX	79740	broad.mit.edu	37	3	167090621	167090621	+	Splice_Site	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:167090621C>A	ENST00000392766.2	-	4	409		c.e4+1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATGAACTCACCTATATTTTA	0.269000													3	24					0.004672	0.00500297	0.004672	1	0
PDE1C	5137	broad.mit.edu	37	7	31862793	31862793	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:31862793G>T	ENST00000396184.3	-	15	1680	c.1476C>A	c.(1474-1476)gcC>gcA	p.A492A	PDE1C_ENST00000396191.1_Silent_p.A492A|PDE1C_ENST00000321453.7_Silent_p.A492A|PDE1C_ENST00000396182.2_Silent_p.A492A|PDE1C_ENST00000396193.1_Silent_p.A552A	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	492	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A492E(2)|p.A552E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGTTGATCGGGGCACTTCCCT	0.463000													11	89					1.61879e-10	2.4758e-10	0.013537	1	0
RGS22	26166	broad.mit.edu	37	8	101076210	101076210	+	Missense_Mutation	SNP	G	G	T	rs139754977	by1000genomes	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:101076210G>T	ENST00000360863.6	-	8	980	c.786C>A	c.(784-786)aaC>aaA	p.N262K	RGS22_ENST00000523437.1_Missense_Mutation_p.N250K|RGS22_ENST00000523287.1_Missense_Mutation_p.N81K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	262					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.N262K(2)	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)			AAATCAATTTGTTGGTTTTAG	0.348000													109	260					1.19107e-50	2.52593e-50	0.014410	1	0
LHX1	3975	broad.mit.edu	37	17	35300290	35300290	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:35300290G>T	ENST00000254457.5	+	5	2494	c.1083G>T	c.(1081-1083)ctG>ctT	p.L361L	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	361					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.L361L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGCCCAGCCTGCCCGGGCCTC	0.716000													5	24					0.00198382	0.00215994	0.029380	1	0
ENOX1	55068	broad.mit.edu	37	13	43918817	43918817	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:43918817C>G	ENST00000261488.6	-	9	1470	c.893G>C	c.(892-894)cGc>cCc	p.R298P	ENOX1_ENST00000412891.1_Missense_Mutation_p.R298P|ENOX1_ENST00000540032.1_Missense_Mutation_p.R111P	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	298					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.R298P(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTTTGCAGAGCGCCGATTCAC	0.498000													24	95					0	0	0.018920	0	0
WWC3	55841	broad.mit.edu	37	X	10096092	10096092	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:10096092C>T	ENST00000380861.4	+	16	2562	c.2171C>T	c.(2170-2172)tCc>tTc	p.S724F	WWC3_ENST00000454666.1_Missense_Mutation_p.S724F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	724								p.S724F(1)		NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGCTGGCATTCCGTGCAGGTG	0.567000													16	170					0	0	0.024245	0	0
DNHD1	144132	broad.mit.edu	37	11	6520073	6520073	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:6520073G>A	ENST00000254579.6	+	3	1192	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	DNHD1_ENST00000527990.2_Missense_Mutation_p.V210M|DNHD1_ENST00000354685.3_Missense_Mutation_p.V210M	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	210					microtubule-based movement	dynein complex	microtubule motor activity	p.V210M(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGAAGAGGCTGTGTGGCTGGA	0.577000													16	171					0	0	0.007413	0	0
IL31RA	133396	broad.mit.edu	37	5	55168222	55168222	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:55168222G>A	ENST00000396834.1	+	6	836	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	IL31RA_ENST00000447346.2_Missense_Mutation_p.E133K|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.E114K|IL31RA_ENST00000359040.5_Missense_Mutation_p.E133K|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000396836.2_Missense_Mutation_p.E133K	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	101	Fibronectin type-III 1.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	p.E133K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGTGGAAGCTGAAAATGGAGA	0.328000													9	37					0	0	0.010729	0	0
CCT7	10574	broad.mit.edu	37	2	73478400	73478400	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:73478400C>A	ENST00000539919.1	+	12	1489	c.1118C>A	c.(1117-1119)tCc>tAc	p.S373Y	CCT7_ENST00000398422.2_Missense_Mutation_p.S213Y|CCT7_ENST00000258091.5_Missense_Mutation_p.S417Y|CCT7_ENST00000540468.1_Missense_Mutation_p.S330Y|CCT7_ENST00000538797.1_Missense_Mutation_p.S289Y|CCT7_ENST00000537131.1_Missense_Mutation_p.S317Y	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	417					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	p.S213Y(1)|p.S417Y(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						ATGGAACTCTCCAAGTACCTG	0.532000													23	123					5.35356e-11	8.32491e-11	0.016522	1	0
CLDN17	26285	broad.mit.edu	37	21	31538801	31538801	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:31538801C>G	ENST00000286808.3	-	1	170	c.135G>C	c.(133-135)agG>agC	p.R45S		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	45					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	p.R45S(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CTTCCCAGAGCCTCTCAAAGA	0.527000													7	64					0	0	0.004482	0	0
IGF2R	3482	broad.mit.edu	37	6	160466889	160466889	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:160466889C>G	ENST00000356956.1	+	14	2026	c.1878C>G	c.(1876-1878)aaC>aaG	p.N626K		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	626					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.N626K(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGGGGAGAACTGCACGGTCT	0.502000													30	149					0	0	0.015359	0	0
KIAA2018	205717	broad.mit.edu	37	3	113378844	113378844	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:113378844G>A	ENST00000316407.4	-	7	2095	c.1685C>T	c.(1684-1686)cCa>cTa	p.P562L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.P562L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	562					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.P562L(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGTTGGGCATGGGGTGGTGCT	0.458000													58	146					0	0	0.014410	0	0
PDHA2	5161	broad.mit.edu	37	4	96761384	96761384	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:96761384C>A	ENST00000295266.4	+	1	146	c.83C>A	c.(82-84)tCc>tAc	p.S28Y		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	28					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TCCCGTAACTCCTCAAATGAC	0.517000													4	80					0.000602214	0.000673155	0.014758	1	0
KRTAP19-7	337974	broad.mit.edu	37	21	31933529	31933529	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr21:31933529C>A	ENST00000334849.2	-	1	104	c.80G>T	c.(79-81)tGt>tTt	p.C27F		NM_181614.1	NP_853645.1	Q3SYF9	KR197_HUMAN	keratin associated protein 19-7	27						intermediate filament		p.C27F(1)		endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						GCCACATCCACAGCTATAGCC	0.562000													8	46					2.32078e-09	3.37852e-09	0.024245	1	0
HNF4G	3174	broad.mit.edu	37	8	76470801	76470801	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:76470801G>T	ENST00000396423.2	+	7	876	c.752G>T	c.(751-753)cGt>cTt	p.R251L	HNF4G_ENST00000354370.1_Missense_Mutation_p.R214L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	214					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R214L(1)|p.R251L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAGATTAGCCGTGTGGCCAAT	0.378000													144	188					4.25504e-68	9.05328e-68	0.014410	1	0
COL15A1	1306	broad.mit.edu	37	9	101748080	101748080	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:101748080G>T	ENST00000375001.3	+	3	757	c.334G>T	c.(334-336)Gac>Tac	p.D112Y		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	112	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.D112Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CGCCATCACTGACGCCTTCCA	0.617000													12	102					2.80697e-09	4.05002e-09	0.010729	1	0
TPD52L3	89882	broad.mit.edu	37	9	6328619	6328619	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:6328619C>G	ENST00000344545.5	+	1	271	c.24C>G	c.(22-24)acC>acG	p.T8T	TPD52L3_ENST00000381428.1_Silent_p.T8T|TPD52L3_ENST00000314556.3_Silent_p.T8T	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	8							protein binding	p.T8T(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GGACAGAGACCTCTGTGGGCA	0.488000													48	301					0	0	0.014410	0	0
DNAH8	1769	broad.mit.edu	37	6	38690781	38690781	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:38690781C>A	ENST00000449981.2	+	2	305	c.196C>A	c.(196-198)Cct>Act	p.P66T						dynein, axonemal, heavy chain 8									p.P66T(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGATCTCATTCCTTCTGAAGA	0.537000													15	60					1.3612e-06	1.74858e-06	0.024245	1	0
RBM46	166863	broad.mit.edu	37	4	155749036	155749036	+	Silent	SNP	C	C	A	rs146619160		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:155749036C>A	ENST00000281722.3	+	5	1654	c.1419C>A	c.(1417-1419)cgC>cgA	p.R473R	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	473							nucleotide binding|RNA binding	p.R473R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATTTCCATCGCAGCTCAATAA	0.363000													26	89					5.77227e-19	1.07815e-18	0.037714	1	0
RLTPR	146206	broad.mit.edu	37	16	67680346	67680346	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:67680346C>A	ENST00000334583.6	+	6	720	c.392C>A	c.(391-393)cCc>cAc	p.P131H	RLTPR_ENST00000545661.1_Missense_Mutation_p.P131H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	131								p.P171H(1)|p.P131H(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TTCCGGAGGCCCACACCAGCC	0.632000													15	90					0.00121646	0.00133677	0.008871	1	0
FAT4	79633	broad.mit.edu	37	4	126336650	126336650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:126336650G>T	ENST00000394329.3	+	5	6545	c.6532G>T	c.(6532-6534)Gca>Tca	p.A2178S	FAT4_ENST00000335110.5_Missense_Mutation_p.A476S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2178	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2178S(2)|p.A2178P(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAGTGTTCGCAGCAGATGG	0.398000													10	91					7.03913e-09	9.99003e-09	0.013537	1	0
ZC3H12C	85463	broad.mit.edu	37	11	110023660	110023660	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:110023660G>T	ENST00000453089.2	+	2	1578	c.697G>T	c.(697-699)Gta>Tta	p.V233L	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.V265L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.V264L			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	264							endonuclease activity|nucleic acid binding|zinc ion binding	p.V264L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AAACAAAGAAGTATTTTCCTG	0.328000													5	20					0.000602214	0.000673155	0.014758	1	0
SEPT5	5413	broad.mit.edu	37	22	19708337	19708337	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:19708337C>T	ENST00000438754.2	+	7	969	c.689C>T	c.(688-690)cCt>cTt	p.P230L	SEPT5_ENST00000383045.3_Missense_Mutation_p.P230L|SEPT5_ENST00000406395.1_Missense_Mutation_p.P221L|SEPT5_ENST00000455784.2_Missense_Mutation_p.P221L	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	221					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P221L(1)		lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TACCAGTTCCCTGAGTGTGAC	0.567000													96	124					0	0	0.014410	0	0
SPTA1	6708	broad.mit.edu	37	1	158632624	158632624	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158632624G>T	ENST00000368148.3	-	17	2512	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	SPTA1_ENST00000368147.3_Missense_Mutation_p.L778M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	778					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L778M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCTCTTTCAGAGCTTCAAAT	0.473000													15	36					6.72482e-11	1.04075e-10	0.024245	1	0
CANT1	124583	broad.mit.edu	37	17	76993512	76993512	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:76993512C>A	ENST00000302345.2	-	2	687	c.193G>T	c.(193-195)Gcc>Tcc	p.A65S	CANT1_ENST00000591773.1_Missense_Mutation_p.A65S|CANT1_ENST00000392446.5_Missense_Mutation_p.A65S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	65					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	p.A65S(1)	CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTGCCGGGGGCCGGGCGGTGG	0.682000			T	ETV4	prostate								5	48					0.000442599	0.000498595	0.006214	1	0
ERCC4	2072	broad.mit.edu	37	16	14041959	14041959	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:14041959G>A	ENST00000311895.7	+	11	2515	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	836	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.E836K(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AGCAGATTCTGAAACCCTTCC	0.522000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	51					0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3229472	3229472	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:3229472C>A	ENST00000217939.6	-	7	6926	c.6772G>T	c.(6772-6774)Ggg>Tgg	p.G2258W		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2258	Ig-like C2-type 7.					extracellular region		p.G2258W(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGTCACCCCCGTAGAAGACT	0.537000													6	136					1.12685e-05	1.37938e-05	0.004482	1	0
ANO8	57719	broad.mit.edu	37	19	17444344	17444344	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:17444344C>A	ENST00000159087.4	-	3	395	c.237G>T	c.(235-237)acG>acT	p.T79T		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	79						chloride channel complex	chloride channel activity	p.T79T(1)		autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCCATAGCAGCGTGTGGTCAT	0.642000													4	52					1.15088e-07	1.54082e-07	0.028581	1	0
POTEH	23784	broad.mit.edu	37	22	16287853	16287853	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:16287853G>T	ENST00000343518.6	-	1	84	c.33C>A	c.(31-33)gcC>gcA	p.A11A		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	11								p.A11A(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCACAGAGGAGGCAGCCGGCA	0.587000													12	244					3.27435e-08	4.52836e-08	0.020292	1	0
OR10K1	391109	broad.mit.edu	37	1	158436249	158436249	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158436249G>T	ENST00000289451.2	+	1	978	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A300S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATTCAAATCAGCCCTACGAAG	0.383000													19	85					1.00905e-13	1.71472e-13	0.008871	1	0
DHFRL1	200895	broad.mit.edu	37	3	93780073	93780073	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:93780073C>A	ENST00000394221.2	-	2	732	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	DHFRL1_ENST00000314636.2_Missense_Mutation_p.D95Y|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	95	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding	p.D95Y(1)		kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						AAGGCATCATCCAAACTTCTG	0.383000													37	214					3.76114e-14	6.50196e-14	0.019004	1	0
LGI1	9211	broad.mit.edu	37	10	95557293	95557293	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:95557293G>T	ENST00000371418.4	+	8	1667	c.1407G>T	c.(1405-1407)caG>caT	p.Q469H	LGI1_ENST00000542308.1_Missense_Mutation_p.Q421H|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	469					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	p.Q469H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGGATATTCAGAGGATGCCAT	0.423000													5	47					0.000602214	0.000673155	0.014758	1	0
MIB2	142678	broad.mit.edu	37	1	1560537	1560537	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:1560537C>T	ENST00000357210.4	+	6	1083	c.867C>T	c.(865-867)ttC>ttT	p.F289F	MIB2_ENST00000505820.2_Silent_p.F346F|MIB2_ENST00000504599.1_Silent_p.F245F|MIB2_ENST00000520777.1_Silent_p.F346F|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000355826.5_Silent_p.F332F|MIB2_ENST00000378708.1_Silent_p.F231F|MIB2_ENST00000360522.4_Silent_p.F289F|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378710.3_Silent_p.F289F	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	289					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.F289F(1)		central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CGGGCGGCTTCTACTACAAGG	0.632000													5	110					0	0	0.014758	0	0
SESTD1	91404	broad.mit.edu	37	2	179989108	179989108	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:179989108G>T	ENST00000428443.3	-	11	1466	c.1150C>A	c.(1150-1152)Cat>Aat	p.H384N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	384					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.H384N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCAACACCATGAAATTCAAGA	0.383000													17	64					3.41278e-10	5.15886e-10	0.033300	1	0
KNG1	3827	broad.mit.edu	37	3	186456894	186456894	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:186456894G>T	ENST00000265023.4	+	8	1149	c.937G>T	c.(937-939)Gct>Tct	p.A313S	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Missense_Mutation_p.A313S|KNG1_ENST00000447445.1_Missense_Mutation_p.A277S|RP11-573D15.8_ENST00000354642.2_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	313	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.A313S(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TCAGGTGGTGGCTGGCAAGAA	0.333000													5	66					0.014758	0.0153852	0.014758	1	0
MYT1L	23040	broad.mit.edu	37	2	1926244	1926244	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:1926244G>T	ENST00000399161.2	-	10	2044	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	MYT1L_ENST00000428368.2_Missense_Mutation_p.L433M	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	433					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L433M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTCCAGCAGGGTCAGGTTC	0.542000													25	167					4.26978e-12	6.89529e-12	0.018920	1	0
ADCY8	114	broad.mit.edu	37	8	131896902	131896902	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:131896902G>T	ENST00000286355.5	-	8	4109	c.2017C>A	c.(2017-2019)Cat>Aat	p.H673N	ADCY8_ENST00000377928.3_Missense_Mutation_p.H673N	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	673					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.H673N(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCGATGGTATGTTCTATTCTC	0.443000										HNSCC(32;0.087)			27	156					4.87955e-14	8.37968e-14	0.027356	1	0
SCEL	8796	broad.mit.edu	37	13	78173884	78173884	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:78173884G>T	ENST00000535157.1	+	14	1021		c.e14+1		SCEL_ENST00000377246.3_Splice_Site|SCEL_ENST00000349847.3_Splice_Site|SCEL_ENST00000469982.1_Splice_Site	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin						embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGGCAAAGGGTAAGATTTTA	0.423000													8	77					0.00448238	0.0048118	0.004482	1	0
PDE10A	10846	broad.mit.edu	37	6	165863740	165863740	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:165863740G>T	ENST00000366882.1	-	5	460	c.306C>A	c.(304-306)atC>atA	p.I102I	PDE10A_ENST00000539869.2_Silent_p.I112I|PDE10A_ENST00000354448.4_Silent_p.I102I			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	102	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.I102I(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTATTTTAATGATGCTGCTCA	0.378000													26	107					6.32553e-13	1.05291e-12	0.024334	1	0
FXR2	9513	broad.mit.edu	37	17	7497649	7497649	+	Missense_Mutation	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:7497649C>G	ENST00000250113.7	-	10	1261	c.927G>C	c.(925-927)aaG>aaC	p.K309N		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	309	KH 2.					cytosolic large ribosomal subunit	protein binding|RNA binding	p.K309N(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTTTCCCGTTCTTTCCAATCA	0.428000													7	58					0	0	0.029380	0	0
DSC3	1825	broad.mit.edu	37	18	28610993	28610993	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:28610993G>T	ENST00000434452.1	-	3	454	c.300C>A	c.(298-300)gaC>gaA	p.D100E	DSC3_ENST00000360428.4_Missense_Mutation_p.D100E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	100					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.D100E(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GTTTCCTTTTGTCAGAAAGCC	0.363000													11	31					5.50884e-06	6.84655e-06	0.013537	1	0
CNGB3	54714	broad.mit.edu	37	8	87645092	87645092	+	Missense_Mutation	SNP	C	C	A	rs147876778	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:87645092C>A	ENST00000320005.5	-	11	1255	c.1208G>T	c.(1207-1209)cGa>cTa	p.R403L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	403			R -> Q (in macular degeneration).		signal transduction|visual perception	integral to membrane	cGMP binding	p.R403P(1)|p.R403L(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AATTAAAGTTCGAACTGCCCA	0.328000													22	66					4.26978e-12	6.89529e-12	0.018920	1	0
TLL2	7093	broad.mit.edu	37	10	98156978	98156978	+	Missense_Mutation	SNP	T	T	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:98156978T>C	ENST00000357947.3	-	11	1574	c.1349A>G	c.(1348-1350)aAc>aGc	p.N450S	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	450	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N450S(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCCCAAGATGTTGCTGCTGCT	0.587000													18	54					0	0	0.008871	0	0
PCDH19	57526	broad.mit.edu	37	X	99551693	99551693	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:99551693G>T	ENST00000373034.4	-	6	4704	c.3029C>A	c.(3028-3030)cCc>cAc	p.P1010H	PCDH19_ENST00000420881.2_Missense_Mutation_p.P962H|PCDH19_ENST00000255531.7_Missense_Mutation_p.P963H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1010					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P463H(1)|p.P1010H(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCGTTTGGTGGGGCCGCAGTC	0.557000													30	61					3.90053e-15	6.85228e-15	0.012213	1	0
TUBBP1	92755	broad.mit.edu	37	8	30209576	30209576	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:30209576C>A	ENST00000518096.1	+	0	188																											CAGATCGGTGCCAAGTTCTGG	0.532000													10	69					1.76689e-08	2.46191e-08	0.006214	1	0
AIM2	9447	broad.mit.edu	37	1	159035799	159035799	+	Silent	SNP	C	C	A	rs142558736		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:159035799C>A	ENST00000368130.4	-	4	1005	c.717G>T	c.(715-717)ccG>ccT	p.P239P	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	239	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.P239P(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TAATGTTCAGCGGGACATTAA	0.418000													31	189					5.77227e-19	1.07815e-18	0.037714	1	0
SERPINB12	89777	broad.mit.edu	37	18	61226923	61226923	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:61226923A>T	ENST00000382768.1	+	3	416	c.416A>T	c.(415-417)tAt>tTt	p.Y139F	SERPINB12_ENST00000269491.1_Missense_Mutation_p.Y119F			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	119					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.Y119F(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAGGCTTTATGGAGAGCAG	0.448000													12	88					0	0	0.010729	0	0
PLCH2	9651	broad.mit.edu	37	1	2428342	2428342	+	Missense_Mutation	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:2428342A>G	ENST00000449969.1	+	15	2089	c.1928A>G	c.(1927-1929)tAc>tGc	p.Y643C	PLCH2_ENST00000378488.3_Missense_Mutation_p.Y670C|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.Y670C|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.Y670C			O75038	PLCH2_HUMAN	phospholipase C, eta 2	670	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y517C(1)|p.Y670C(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CCGGCGCAGTACCTACGCTTC	0.647000													17	42					0	0	0.016522	0	0
SERPINI2	5276	broad.mit.edu	37	3	167159974	167159974	+	Splice_Site	SNP	C	C	T	rs148696355		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:167159974C>T	ENST00000476257.1	-	10	1440		c.e10-1		SERPINI2_ENST00000471111.1_Splice_Site|SERPINI2_ENST00000461846.1_Splice_Site|SERPINI2_ENST00000264677.4_Splice_Site			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2						cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.?(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGAATTGATTCTAGGGAAAAA	0.308000													4	12					0	0	0.014758	0	0
POTEG	404785	broad.mit.edu	37	14	19566082	19566082	+	Splice_Site	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:19566082G>A	ENST00000409832.3	+	6	1178	c.1126_splice	c.e6+1	p.E376_splice	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	376								p.E376K(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAATCCAGGTAAGACTTA	0.368000													3	78					0	0	0.014758	0	0
PLD1	5337	broad.mit.edu	37	3	171323120	171323120	+	Missense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:171323120G>A	ENST00000356327.5	-	25	2925	c.2855C>T	c.(2854-2856)aCa>aTa	p.T952I	PLD1_ENST00000351298.4_Missense_Mutation_p.T990I|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	990					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T990I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCGAGCTGCTGTTGAAACCCA	0.418000													21	149					0	0	0.012319	0	0
RYR2	6262	broad.mit.edu	37	1	237993832	237993832	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:237993832C>T	ENST00000366574.2	+	103	14975	c.14658C>T	c.(14656-14658)acC>acT	p.T4886T	RYR2_ENST00000462585.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.T4870T|RYR2_ENST00000360064.6_Silent_p.T4892T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4886					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	p.T4884T(1)		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)			TTTTCTAGACCAAATGCTTCA	0.413000													28	125					0	0	0.037714	0	0
SPEF2	79925	broad.mit.edu	37	5	35670312	35670312	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:35670312G>T	ENST00000440995.2	+	10	1507	c.1507G>T	c.(1507-1509)Gat>Tat	p.D503Y	SPEF2_ENST00000356031.3_Missense_Mutation_p.D503Y|SPEF2_ENST00000282469.6_Missense_Mutation_p.D503Y|SPEF2_ENST00000509059.1_Missense_Mutation_p.D503Y			Q9C093	SPEF2_HUMAN	sperm flagellar 2	503					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.D503Y(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGATACCAATGATTATGAAGA	0.318000													5	32					0.000602214	0.000673155	0.014758	1	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457981	45457981	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:45457981C>A	ENST00000548424.1	+	0	448																											CTGTCACAGCCCAAGATCCTA	0.458000													23	86					2.00529e-23	3.96785e-23	0.018920	1	0
EVPL	2125	broad.mit.edu	37	17	74014575	74014575	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:74014575C>A	ENST00000301607.3	-	12	1644	c.1391G>T	c.(1390-1392)tGc>tTc	p.C464F	EVPL_ENST00000586740.1_Missense_Mutation_p.C464F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	464	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	p.C464F(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCAGAAGCAGGCGGCGGG	0.667000													26	26					4.72057e-08	6.47336e-08	0.021523	1	0
UVRAG	7405	broad.mit.edu	37	11	75718610	75718610	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:75718610C>T	ENST00000356136.3	+	10	1185	c.944C>T	c.(943-945)aCa>aTa	p.T315I	UVRAG_ENST00000528420.1_Missense_Mutation_p.T214I|UVRAG_ENST00000533454.1_5'UTR|UVRAG_ENST00000539288.1_5'UTR|UVRAG_ENST00000531818.1_5'UTR|UVRAG_ENST00000532130.1_5'UTR	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	315					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	p.T315I(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GCTCAGTTGACAATTCGTTGC	0.303000													22	80					0	0	0.024334	0	0
CPSF3	51692	broad.mit.edu	37	2	9583777	9583777	+	Missense_Mutation	SNP	A	A	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:9583777A>C	ENST00000460593.1	+	10	2256	c.1118A>C	c.(1117-1119)aAa>aCa	p.K373T	CPSF3_ENST00000238112.3_Missense_Mutation_p.K410T			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	410					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.K410T(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		CGTGCTTTGAAACCGCCTCAT	0.403000													62	134					0	0	0.014410	0	0
TRIM37	4591	broad.mit.edu	37	17	57128685	57128685	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:57128685G>A	ENST00000376149.3	-	14	1647	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	TRIM37_ENST00000393065.2_Nonsense_Mutation_p.Q368*|TRIM37_ENST00000262294.7_Nonsense_Mutation_p.Q402*|TRIM37_ENST00000393066.3_Nonsense_Mutation_p.Q402*			O94972	TRI37_HUMAN	tripartite motif containing 37	402	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.Q402*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAACGTACCTGAAACCTTAAA	0.333000									Mulibrey Nanism				5	139					0	0	0.029380	0	0
CLEC10A	10462	broad.mit.edu	37	17	6978391	6978391	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:6978391G>T	ENST00000254868.4	-	9	1261	c.933C>A	c.(931-933)acC>acA	p.T311T	CLEC10A_ENST00000571664.1_Silent_p.T287T|CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Silent_p.T284T	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	311					endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	p.T311T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCTCCTGGCTGGTCTGACCCA	0.632000													17	63					7.38237e-10	1.10058e-09	0.030593	1	0
PAPOLA	10914	broad.mit.edu	37	14	97022712	97022712	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:97022712C>T	ENST00000216277.8	+	19	2186	c.1966C>T	c.(1966-1968)Cat>Tat	p.H656Y	PAPOLA_ENST00000392990.2_Missense_Mutation_p.H656Y	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	656					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATCCTCACCTCATAAAGAAGA	0.388000													20	142					0	0	0.010504	0	0
SRGAP1	57522	broad.mit.edu	37	12	64519834	64519834	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:64519834G>T	ENST00000355086.3	+	19	2826	c.2302G>T	c.(2302-2304)Gcc>Tcc	p.A768S	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A745S|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A705S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	768	SH3.				axon guidance	cytosol		p.A768S(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAAGAAGGGTGCCTCCCTGCT	0.522000													12	99					5.50884e-06	6.84655e-06	0.013537	1	0
DNAH11	8701	broad.mit.edu	37	7	21747331	21747331	+	Silent	SNP	G	G	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:21747331G>A	ENST00000328843.6	+	41	6613	c.6582G>A	c.(6580-6582)ctG>ctA	p.L2194L	DNAH11_ENST00000409508.3_Silent_p.L2187L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2194	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2194L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGAACACTGAACCGAACAT	0.363000									Kartagener syndrome				6	71					0	0	0.021553	0	0
FSHR	2492	broad.mit.edu	37	2	49189950	49189950	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:49189950G>T	ENST00000406846.2	-	10	2129	c.2010C>A	c.(2008-2010)ggC>ggA	p.G670G	FSHR_ENST00000346173.3_Silent_p.G608G|FSHR_ENST00000541117.1_Silent_p.G406G|FSHR_ENST00000304421.4_Silent_p.G644G	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	670					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.G670G(1)|p.H671N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AAGAGCAGTGGCCATTCCTTG	0.438000									Gonadal Dysgenesis, 46 XX				10	98					1.3612e-06	1.74858e-06	0.024245	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70713003	70713003	+	RNA	SNP	G	G	C			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:70713003G>C	ENST00000530196.1	-	0	1515					NR_003951.1																						TCCCCTGATGGCATGAATTTG	0.478000													20	52					0	0	0.008871	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438728	37438728	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:37438728T>A	ENST00000374660.1	+	11	1527	c.1428T>A	c.(1426-1428)tcT>tcA	p.S476S	ANKRD30A_ENST00000602533.1_Silent_p.S476S|ANKRD30A_ENST00000361713.1_Silent_p.S476S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	532						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S476S(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCAAAACTCTGTTCCAAATA	0.289000													5	33					0	0	0.021553	0	0
TCN2	6948	broad.mit.edu	37	22	31018994	31018994	+	Silent	SNP	C	C	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:31018994C>G	ENST00000215838.3	+	8	1640	c.1146C>G	c.(1144-1146)acC>acG	p.T382T	TCN2_ENST00000405742.3_Silent_p.T378T|TCN2_ENST00000407817.3_Silent_p.T355T			P20062	TCO2_HUMAN	transcobalamin II	382					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.T382T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTACTTAACCTCCGTGATGG	0.567000													10	110					0	0	0.006214	0	0
SNX1	6642	broad.mit.edu	37	15	64404771	64404771	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:64404771G>T	ENST00000353874.4	+	2	195		c.e2-1		SNX1_ENST00000560829.1_Splice_Site|SNX1_ENST00000561026.1_Splice_Site|SNX1_ENST00000559844.1_Splice_Site|SNX1_ENST00000261889.5_Splice_Site			Q13596	SNX1_HUMAN	sorting nexin 1						cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	p.?(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGTTTTCAGAGTAAACATC	0.408000													6	45					5.9392e-07	7.77539e-07	0.021553	1	0
OR8H2	390151	broad.mit.edu	37	11	55872940	55872940	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:55872940G>T	ENST00000313503.1	+	1	422	c.422G>T	c.(421-423)tGc>tTc	p.C141F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AAAAGGCTCTGCCTCGCTCTC	0.458000										HNSCC(53;0.14)			5	218					5.9392e-07	7.77539e-07	0.021553	1	0
CACNG1	786	broad.mit.edu	37	17	65040956	65040956	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:65040956C>A	ENST00000226021.3	+	1	251	c.180C>A	c.(178-180)cgC>cgA	p.R60R		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	60					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R60R(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GTACCAAGCGCATCCCCATGG	0.652000													7	86					8.12818e-05	9.47681e-05	0.029380	1	0
NTSR1	4923	broad.mit.edu	37	20	61340789	61340789	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:61340789G>T	ENST00000370501.3	+	1	601	c.230G>T	c.(229-231)gGc>gTc	p.G77V		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	77						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.G77V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			TTCGTGGTGGGCACGGTGGGC	0.667000													11	66					2.68362e-12	4.38831e-12	0.013537	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694605	187694605	+	Missense_Mutation	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:187694605T>A	ENST00000295131.2	-	8	983	c.944A>T	c.(943-945)cAa>cTa	p.Q315L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	315					apoptosis		zinc ion binding	p.Q315L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TGTGTAAACTTGGCTGAATGA	0.368000													12	127					0	0	0.013537	0	0
EYA1	2138	broad.mit.edu	37	8	72184058	72184058	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:72184058C>A	ENST00000340726.3	-	10	1540	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	EYA1_ENST00000419131.1_Missense_Mutation_p.G296W|EYA1_ENST00000388740.3_Missense_Mutation_p.G268W|EYA1_ENST00000388743.2_Missense_Mutation_p.G300W|EYA1_ENST00000388741.2_Missense_Mutation_p.G267W|EYA1_ENST00000388742.4_Missense_Mutation_p.G301W|EYA1_ENST00000303824.7_Missense_Mutation_p.G295W	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G301W(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGTGATTTCCCATCTGAACCT	0.468000													26	375					4.26978e-12	6.89529e-12	0.018920	1	0
C5orf22	55322	broad.mit.edu	37	5	31541486	31541486	+	Silent	SNP	A	A	G			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:31541486A>G	ENST00000325366.9	+	6	1096	c.969A>G	c.(967-969)gtA>gtG	p.V323V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	323								p.V323V(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAGAAACGGTACAGAGATGGG	0.383000													17	121					0	0	0.006122	0	0
CACNG5	27091	broad.mit.edu	37	17	64873633	64873633	+	Silent	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:64873633C>A	ENST00000533854.1	+	2	420	c.183C>A	c.(181-183)gtC>gtA	p.V61V	CACNG5_ENST00000307139.3_Silent_p.V61V|CACNG5_ENST00000169565.3_Silent_p.V61V			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	61					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.V61V(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTGGCGGGTCTGCTTCCTTG	0.617000													39	71					9.42957e-07	1.22218e-06	0.030466	1	0
ZIM3	114026	broad.mit.edu	37	19	57648334	57648334	+	Missense_Mutation	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:57648334C>T	ENST00000269834.1	-	4	533	c.148G>A	c.(148-150)Ggg>Agg	p.G50R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G50R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGGTTTCCCCTTGTCCTGTG	0.502000													42	84					0	0	0.036044	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616672	77616672	+	Missense_Mutation	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr8:77616672A>T	ENST00000521891.2	+	2	797	c.349A>T	c.(349-351)Agc>Tgc	p.S117C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S117C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S117C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S117C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	117						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S117C(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGCGAGATCAGCGAGTTAGA	0.483000										HNSCC(33;0.089)			23	309					0	0	0.014323	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43915835	43915835	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:43915835G>T	ENST00000377564.3	+	23	4076	c.3683G>T	c.(3682-3684)gGa>gTa	p.G1228V	CNTNAP3B_ENST00000467854.1_3'UTR	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1228					cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1228V(1)		central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGTCGTTCTGGACCAGTGGAT	0.428000													7	17					0.000157383	0.0001809	0.003080	1	0
MIR29B2	407025	broad.mit.edu	37	1	207975855	207975855	+	RNA	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:207975855C>A	ENST00000385055.1	-	0	13					NR_029518.1																						CCATGTGAAACCAGCTTCCAG	0.433000													17	47					1.15088e-07	1.54082e-07	0.028581	1	0
DOCK1	1793	broad.mit.edu	37	10	128769018	128769018	+	Silent	SNP	A	A	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:128769018A>T	ENST00000280333.6	+	2	208	c.99A>T	c.(97-99)ggA>ggT	p.G33G		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	33	SH3.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.G33G(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TACAGATCGGAGACACTGTGC	0.393000													4	78					0	0	0.009096	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678331	65678331	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr15:65678331C>T	ENST00000352385.2	-	18	3227	c.3018G>A	c.(3016-3018)cgG>cgA	p.R1006R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1006						integral to membrane|plasma membrane		p.R1006R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGGGGCCAAGCCGAGCTCTGG	0.667000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0	0	0.003080	0	0
BPIFC	254240	broad.mit.edu	37	22	32810311	32810311	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr22:32810311C>A	ENST00000397452.1	-	16	1613	c.1503G>T	c.(1501-1503)tgG>tgT	p.W501C	BPIFC_ENST00000300399.3_Missense_Mutation_p.W501C|BPIFC_ENST00000432451.2_Missense_Mutation_p.W258C|BPIFC_ENST00000534972.1_Missense_Mutation_p.W225C			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	501						extracellular region	lipopolysaccharide binding|phospholipid binding	p.W501C(1)									ACTTCCCCCTCCACTGTCTGC	0.473000													18	172					4.96729e-08	6.7902e-08	0.008871	1	0
AKR1E2	83592	broad.mit.edu	37	10	4879695	4879695	+	Silent	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:4879695G>T	ENST00000298375.7	+	5	575	c.504G>T	c.(502-504)ggG>ggT	p.G168G	AKR1E2_ENST00000334019.4_Silent_p.G168G|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Silent_p.G168G|AKR1E2_ENST00000525281.1_3'UTR	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	168						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.G168G(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGAACATCGGGGTGTCAAACT	0.502000													36	80					5.8336e-16	1.04603e-15	0.015359	1	0
ZNF521	25925	broad.mit.edu	37	18	22805845	22805845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr18:22805845C>A	ENST00000361524.3	-	4	2185	c.2037G>T	c.(2035-2037)ttG>ttT	p.L679F	ZNF521_ENST00000584787.1_Missense_Mutation_p.L459F|ZNF521_ENST00000538137.2_Missense_Mutation_p.L679F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	679					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.L679F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CATGCTTCAGCAAGGATTCTT	0.423000			T	PAX5	ALL								61	371					5.86059e-21	1.12537e-20	0.014410	1	0
VIL1	7429	broad.mit.edu	37	2	219296838	219296838	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr2:219296838G>T	ENST00000248444.5	+	12	1361	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	VIL1_ENST00000392114.2_Missense_Mutation_p.D114Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592000													7	42					0.000274275	0.000311404	0.004482	1	0
MFSD11	79157	broad.mit.edu	37	17	74738050	74738050	+	Splice_Site	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:74738050G>T	ENST00000588460.1	+	4	2302		c.e4-1		MFSD11_ENST00000586622.1_Splice_Site|MFSD11_ENST00000355954.3_Splice_Site|MFSD11_ENST00000590514.1_Splice_Site|MFSD11_ENST00000336509.4_Splice_Site|MFSD11_ENST00000593181.1_Splice_Site	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11							integral to membrane		p.?(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TTATATTTTAGCATGTACATT	0.378000													73	500					7.33394e-39	1.54274e-38	0.014410	1	0
HCFC1	3054	broad.mit.edu	37	X	153224149	153224149	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:153224149C>T	ENST00000310441.7	-	10	2640	c.1674G>A	c.(1672-1674)aaG>aaA	p.K558K	HCFC1_ENST00000369984.4_Silent_p.K558K|HCFC1_ENST00000354233.3_Silent_p.K489K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	558					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.K558K(1)|p.K459K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGGGGATCTTCTGGGTGG	0.657000													12	87					0	0	0.028581	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65507551	65507551	+	Silent	SNP	C	C	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:65507551C>T	ENST00000355045.2	-	3	292	c.264G>A	c.(262-264)ccG>ccA	p.P88P	SPATA31A7_ENST00000491812.2_5'UTR	NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7																		CCAGGCCTCTCGGGCACTCTC	0.602000													7	453					0	0	0.006214	0	0
IFT46	56912	broad.mit.edu	37	11	118428531	118428531	+	Silent	SNP	T	T	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:118428531T>A	ENST00000264020.2	-	4	497	c.120A>T	c.(118-120)gcA>gcT	p.A40A	IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Silent_p.A40A	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	15	Asp/Glu-rich (highly acidic).				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	p.A40A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						ACTTGAGACTTGCAGGGGCAG	0.542000													37	278					0	0	0.033182	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934732	113934732	+	Missense_Mutation	SNP	G	G	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:113934732G>T	ENST00000335953.4	+	2	1090	c.710G>T	c.(709-711)gGg>gTg	p.G237V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.G237V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	237					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.G237V(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGGCACCCTGGGGTGGCTGAG	0.642000													10	34					1.36491e-13	2.31341e-13	0.016723	1	0
EPHA8	2046	broad.mit.edu	37	1	22902947	22902948	+	Frame_Shift_Ins	INS	-	-	T	rs138738837	byFrequency	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:22902947_22902948insT	ENST00000166244.3	+	3	469_470	c.397_398insT	c.(397-399)gggfs	p.G133fs	EPHA8_ENST00000374644.4_Frame_Shift_Ins_p.G133fs|EPHA8_ENST00000538803.1_Frame_Shift_Ins_p.G133fs	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	133						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGACCGCGACCTGGGGGCCAGC	0.589													7	94	---	---	---	---					
ELAVL4	1996	broad.mit.edu	37	1	50659500	50659500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:50659500delC	ENST00000371824.1	+	4	675	c.418delC	c.(418-420)ccfs	p.P140fs	ELAVL4_ENST00000371821.1_Frame_Shift_Del_p.P145fs|ELAVL4_ENST00000357083.4_Frame_Shift_Del_p.P157fs|ELAVL4_ENST00000371819.1_Frame_Shift_Del_p.P145fs|ELAVL4_ENST00000371823.4_Frame_Shift_Del_p.P140fs|ELAVL4_ENST00000448907.2_Frame_Shift_Del_p.P143fs|ELAVL4_ENST00000371827.1_Frame_Shift_Del_p.P140fs			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	140	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TAGCGGCCTTCCCAAAACCAT	0.488													41	169	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:154680586_154680588delGCT	ENST00000271915.3	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)ctc>c	p.QL687del	KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del|KCNN3_ENST00000515643.1_5'UTR	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													9	418	---	---	---	---					
CD1B	910	broad.mit.edu	37	1	158299199	158299199	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:158299199delG	ENST00000368168.3	-	4	954	c.847delC	c.(847-849)acfs	p.H283fs		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	283	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAACTGCTGTGCTTCACCCGA	0.562													12	121	---	---	---	---					
ILDR2	387597	broad.mit.edu	37	1	166904654	166904654	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:166904654delC	ENST00000271417.3	-	6	819	c.764delG	c.(763-765)gcfs	p.G255fs	ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Frame_Shift_Del_p.G255fs|ILDR2_ENST00000529071.1_Frame_Shift_Del_p.G236fs|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	255						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGAGTAAGGGCCGGGGACACC	0.592													18	113	---	---	---	---					
PRDX6	9588	broad.mit.edu	37	1	173455406	173455406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:173455406delG	ENST00000340385.5	+	4	544	c.412delG	c.(412-414)gtfs	p.G138fs	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	138	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						GTTTGTTTTTGGTCCTGATAA	0.433													24	166	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216166501	216166502	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:216166501_216166502delTG	ENST00000366943.2	-	35	7051_7052	c.6665_6666delCA	c.(6664-6666)afs	p.T2222fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.T2222fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2222	Fibronectin type-III 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCCACCACCTGTGCAAGCCTA	0.475										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	153	---	---	---	---					
SPATA17	128153	broad.mit.edu	37	1	217947839	217947839	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr1:217947839delG	ENST00000366933.4	+	7	738	c.683delG	c.(682-684)cgfs	p.R228fs		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	228						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCTTTTCCTCGGTCTGAAATT	0.393													13	40	---	---	---	---					
IMPG2	50939	broad.mit.edu	37	3	100964923	100964923	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr3:100964923delG	ENST00000193391.7	-	12	1453	c.1266delC	c.(1264-1266)ccfs	p.P422fs		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	422					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CATCTGCTGAGGGCCATGCAG	0.428													28	69	---	---	---	---					
KLHL5	51088	broad.mit.edu	37	4	39109334	39109334	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:39109334delG	ENST00000261425.3	+	9	1823	c.1671delG	c.(1669-1671)gtfs	p.V557fs	KLHL5_ENST00000261426.5_Frame_Shift_Del_p.V542fs|KLHL5_ENST00000381930.3_Frame_Shift_Del_p.V603fs|KLHL5_ENST00000359687.2_Frame_Shift_Del_p.V603fs|KLHL5_ENST00000504108.1_Frame_Shift_Del_p.V603fs|KLHL5_ENST00000508137.2_Frame_Shift_Del_p.V416fs	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	603						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						CAGTAGGTGTGGCAGTACTAA	0.378													11	30	---	---	---	---					
GRID2	2895	broad.mit.edu	37	4	94693256	94693256	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr4:94693256delC	ENST00000282020.4	+	16	2889	c.2631delC	c.(2629-2631)ctfs	p.L877fs	GRID2_ENST00000510992.1_Frame_Shift_Del_p.L782fs	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	877					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAGCACCTCCATAGACGTG	0.408													47	96	---	---	---	---					
PCDHGA11	56105	broad.mit.edu	37	5	140801578	140801579	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr5:140801578_140801579insT	ENST00000398587.2	+	1	817_818	c.784_785insT	c.(784-786)gctfs	p.A262fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Frame_Shift_Ins_p.A262fs|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAACTCGGGTGCTGATGGTT	0.455													39	290	---	---	---	---					
C6orf10	10665	broad.mit.edu	37	6	32260988	32260989	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:32260988_32260989insT	ENST00000375015.4	-	26	1658_1659	c.1458_1459insA	c.(1456-1461)caaaaafs	p.QK486fs	C6orf10_ENST00000533191.1_Frame_Shift_Ins_p.QK485fs|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000375007.4_Frame_Shift_Ins_p.QK485fs|C6orf10_ENST00000447241.2_Frame_Shift_Ins_p.QK487fs|C6orf10_ENST00000527965.1_Frame_Shift_Ins_p.QK471fs			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	487	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TCCTTCTTTTCTTGGGCTTCCT	0.381													84	161	---	---	---	---					
DST	667	broad.mit.edu	37	6	56500450	56500450	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr6:56500450delC	ENST00000370754.5	-	23	3023	c.3024delG	c.(3022-3024)cgfs	p.R1008fs	DST_ENST00000446842.2_Frame_Shift_Del_p.R504fs|DST_ENST00000370769.4_Frame_Shift_Del_p.R830fs|DST_ENST00000370765.6_Frame_Shift_Del_p.R504fs|DST_ENST00000361203.3_Frame_Shift_Del_p.R830fs|DST_ENST00000421834.2_Frame_Shift_Del_p.R830fs|DST_ENST00000370788.2_Frame_Shift_Del_p.R830fs|DST_ENST00000518935.1_Frame_Shift_Del_p.R504fs|DST_ENST00000312431.6_Frame_Shift_Del_p.R830fs|DST_ENST00000244364.6_Frame_Shift_Del_p.R504fs			Q03001	DYST_HUMAN	dystonin	830					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTGTACTTCCGCTGAATGG	0.353													8	30	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100677490	100677490	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:100677490delC	ENST00000306151.4	+	3	2857	c.2793delC	c.(2791-2793)gafs	p.D931fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	931	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTATGCCTGACAGCACCACGC	0.507													177	696	---	---	---	---					
WDR91	29062	broad.mit.edu	37	7	134873250	134873250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr7:134873250delC	ENST00000354475.4	-	13	1847	c.1816delG	c.(1816-1818)agfs	p.E606fs	WDR91_ENST00000423565.1_Frame_Shift_Del_p.E571fs|WDR91_ENST00000344400.5_Intron	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	606										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GAGTAGACCTCCCCGTAGTGG	0.587													81	258	---	---	---	---					
OR13C9	286362	broad.mit.edu	37	9	107380363	107380363	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr9:107380363delC	ENST00000259362.1	-	1	122	c.123delG	c.(121-123)ggfs	p.G41fs		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GAGTACCATTCCCCAGAAGGA	0.433													8	160	---	---	---	---					
ST8SIA6	338596	broad.mit.edu	37	10	17363171	17363171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:17363171delG	ENST00000377602.4	-	8	977	c.903delC	c.(901-903)ccfs	p.P301fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	301					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGGTACTTGGGATGGAAAA	0.463													11	293	---	---	---	---					
SFTPD	6441	broad.mit.edu	37	10	81697894	81697894	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr10:81697894delC	ENST00000372292.3	-	8	882	c.842delG	c.(841-843)tcfs	p.C281fs		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	281	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			AGCCTGTGTGCACAGCAGCTG	0.542													44	139	---	---	---	---					
OR51A7	119687	broad.mit.edu	37	11	4929530	4929530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:4929530delG	ENST00000359350.4	+	1	931	c.931delG	c.(931-933)ggfs	p.G311fs	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G311W(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAATGTATGTGGGAGATAAGA	0.393													9	83	---	---	---	---					
FOLR4	390243	broad.mit.edu	37	11	94040589	94040589	+	Splice_Site	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:94040589delG	ENST00000440961.2	+	4	507		c.e4-1			NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)							extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						ATCCCCTGCAGGGAAGAACCG	0.592													20	58	---	---	---	---					
FLI1	2313	broad.mit.edu	37	11	128680738	128680739	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr11:128680738_128680739insA	ENST00000344954.6	+	9	1503_1504	c.1115_1116insA	c.(1114-1116)ctcfs	p.L372fs	FLI1_ENST00000525560.1_Frame_Shift_Ins_p.L212fs|FLI1_ENST00000429175.2_Frame_Shift_Ins_p.L405fs|FLI1_ENST00000281428.8_Frame_Shift_Ins_p.L339fs|FLI1_ENST00000534087.1_Frame_Shift_Ins_p.L372fs			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	405					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CCTCCCCATCCATCCTCCATGC	0.579			T	EWSR1	Ewing sarcoma								12	51	---	---	---	---					
NELL2	4753	broad.mit.edu	37	12	45209815	45209815	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr12:45209815delG	ENST00000429094.2	-	3	793	c.289delC	c.(289-291)acfs	p.H97fs	NELL2_ENST00000549027.1_Frame_Shift_Del_p.H96fs|NELL2_ENST00000548826.1_Frame_Shift_Del_p.H97fs|NELL2_ENST00000333837.4_Frame_Shift_Del_p.H120fs|NELL2_ENST00000551601.1_Frame_Shift_Del_p.H96fs|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Frame_Shift_Del_p.H147fs|NELL2_ENST00000452445.2_Frame_Shift_Del_p.H97fs|NELL2_ENST00000395487.2_Frame_Shift_Del_p.H96fs	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	97	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GAATTTAAGTGGGTCTGTTTT	0.368													17	90	---	---	---	---					
RP11-141M1.3	0	broad.mit.edu	37	13	34009017	34009017	+	RNA	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr13:34009017delG	ENST00000454681.2	-	0	260																											aagaaaggaagggagggaagg	0.433													2	4	---	---	---	---					
OR4K1	79544	broad.mit.edu	37	14	20404584	20404584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:20404584delT	ENST00000285600.4	+	1	818	c.759delT	c.(757-759)ccfs	p.P253fs		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCTTCGGGCCTTGCATTTATT	0.433													9	140	---	---	---	---					
FOXG1-AS1	103695363	broad.mit.edu	37	14	29231227	29231228	+	RNA	INS	-	-	TG	rs145690321	by1000genomes	TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:29231227_29231228insTG	ENST00000551395.1	-	0	278				RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA																							AGTTTTAGTGCtgtgtgtgtgt	0.525													4	4	---	---	---	---					
TSHR	7253	broad.mit.edu	37	14	81609497	81609497	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:81609497delT	ENST00000541158.2	+	11	1417	c.1095delT	c.(1093-1095)ggfs	p.G365fs	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Frame_Shift_Del_p.G365fs			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	365					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	AGATCATTGGTTTTGGCCAGG	0.433			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						23	179	---	---	---	---					
SERPINA6	866	broad.mit.edu	37	14	94770803	94770803	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr14:94770803delG	ENST00000341584.3	-	5	1316	c.1170delC	c.(1168-1170)cafs	p.H390fs		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	390					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCCAGGTGAAGTGGTCGAAGA	0.547													13	136	---	---	---	---					
UQCRC2	7385	broad.mit.edu	37	16	21994458	21994459	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:21994458_21994459insT	ENST00000268379.4	+	14	2092_2093	c.1328_1329insT	c.(1327-1329)attfs	p.I443fs	UQCRC2_ENST00000561553.1_Frame_Shift_Ins_p.L392fs	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	443					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		GCAAGTGGAAATTTGGGACATA	0.376													35	107	---	---	---	---					
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647271	33647271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr16:33647271delG	ENST00000558425.1	-	2	328	c.329delC	c.(328-330)agfs	p.T110fs																								ATACACAGCCGTGTCCTCAGC	0.547													77	280	---	---	---	---					
CCDC144CP	348254	broad.mit.edu	37	17	20227624	20227624	+	RNA	DEL	A	A	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr17:20227624delA	ENST00000340196.4	+	0	568																											AAAAAGAAGTAAGAGTCAGGA	0.318													9	34	---	---	---	---					
MUC16	94025	broad.mit.edu	37	19	9071983	9071983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:9071983delC	ENST00000397910.4	-	3	15666	c.15463delG	c.(15463-15465)ttfs	p.V5155fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5157	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGTGATAACCATTTGAGTT	0.468													26	406	---	---	---	---					
PLA2G4C	8605	broad.mit.edu	37	19	48591944	48591944	+	Splice_Site	DEL	T	T	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:48591944delT	ENST00000354276.3	-	9	1116	c.790_splice	c.e9+1	p.K263_splice	PLA2G4C_ENST00000599921.1_Splice_Site_p.K263_splice|PLA2G4C_ENST00000413144.2_Splice_Site_p.K263_splice|PLA2G4C_ENST00000599111.1_Splice_Site_p.K273_splice	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	263	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GATGCTTACCTTTCAGGGTCA	0.398													16	45	---	---	---	---					
CTD-2587H19.3	0	broad.mit.edu	37	19	54949383	54949384	+	RNA	DEL	GT	GT	-	rs10553690		TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr19:54949383_54949384delGT	ENST00000597355.1	-	0	144_145																											gtgtgcgtgcgtgtgtgtgtgt	0.361													4	1	---	---	---	---					
CDS2	8760	broad.mit.edu	37	20	5166437	5166437	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:5166437delG	ENST00000460006.1	+	9	1100	c.793delG	c.(793-795)ggfs	p.G266fs	CDS2_ENST00000379062.4_Frame_Shift_Del_p.G146fs|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Frame_Shift_Del_p.G87fs	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	266					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						AGGCTTCATTGGGGGCTTCTT	0.502													31	123	---	---	---	---					
ANKEF1	63926	broad.mit.edu	37	20	10033777	10033778	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chr20:10033777_10033778insT	ENST00000378380.3	+	8	2217_2218	c.1888_1889insT	c.(1888-1890)tgcfs	p.C630fs	ANKEF1_ENST00000378392.1_Frame_Shift_Ins_p.C630fs|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		TGCCATGGACGTTGCAAAGGCA	0.337													36	65	---	---	---	---					
RHOXF2B	727940	broad.mit.edu	37	X	119211112	119211112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-3918-01A-01D-1105-08	TCGA-44-3918-11A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f456c3f-58e3-43f1-9f76-4422451528a5	9afbfcba-bbcb-4a1f-8a92-f29b378887c6	g.chrX:119211112delC	ENST00000371402.2	-	2	410	c.221delG	c.(220-222)gcfs	p.G75fs	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						TTCTTCTCCGCCGCCATCTTT	0.597													9	84	---	---	---	---