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
CPS1	1373	broad.mit.edu	37	2	211447431	211447431	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:211447431A>G	ENST00000233072.5	+	6	815	c.619A>G	c.(619-621)Aag>Gag	p.K207E	CPS1_ENST00000430249.2_Missense_Mutation_p.K213E	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	207	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.K207E(1)|p.K213E(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GGTTTCAACCAAGGTGAGGGG	0.348000													18	94					0	0	0.008871	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410284	10410284	+	Silent	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:10410284C>G	ENST00000379613.3	-	2	592	c.336G>C	c.(334-336)acG>acC	p.T112T	TFAP2A_ENST00000319516.4_Silent_p.T106T|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000482890.1_Silent_p.T110T|TFAP2A_ENST00000379604.2_Silent_p.T110T|TFAP2A_ENST00000379608.3_Silent_p.T104T			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	110	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T110T(1)|p.T106T(1)|p.T104T(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCCCCGGTGCGTGTGCAGGA	0.716000													6	50					0	0	0.001984	0	0
KIF24	347240	broad.mit.edu	37	9	34255868	34255868	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:34255868C>G	ENST00000379166.2	-	11	3856	c.3737G>C	c.(3736-3738)tGc>tCc	p.C1246S	KIF24_ENST00000345050.2_Missense_Mutation_p.C1112S|KIF24_ENST00000379174.3_Missense_Mutation_p.C1112S|KIF24_ENST00000402558.2_Missense_Mutation_p.C1246S	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1246					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.C1246S(1)|p.C728S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTCACTGTTGCAGGGCAACTT	0.537000											OREG0019148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	43					0	0	0.001984	0	0
TBX21	30009	broad.mit.edu	37	17	45811198	45811198	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:45811198G>T	ENST00000177694.1	+	1	589	c.378G>T	c.(376-378)gcG>gcT	p.A126A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	126					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A126V(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTACGCGCTACCCGCGG	0.687000													5	14					3.59834e-05	4.06319e-05	0.001168	1	0
MAP3K19	80122	broad.mit.edu	37	2	135743482	135743482	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:135743482G>C	ENST00000375845.3	-	7	2990	c.2960C>G	c.(2959-2961)tCt>tGt	p.S987C	MAP3K19_ENST00000392915.1_Missense_Mutation_p.S1004C|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S874C|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.S987C(1)|p.S339C(1)									TTTTTGGCAAGAGTTGTTATC	0.363000													17	76					0	0	0.004990	0	0
MMD2	221938	broad.mit.edu	37	7	4965101	4965101	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:4965101G>A	ENST00000404774.3	-	2	304	c.110C>T	c.(109-111)gCc>gTc	p.A37V	MMD2_ENST00000401401.3_Missense_Mutation_p.A37V|MMD2_ENST00000406755.1_Missense_Mutation_p.A37V	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	37						integral to membrane	receptor activity	p.A37V(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		GGCACAGTTGGCCGCATGTTC	0.607000													17	183					0	0	0.008871	0	0
PRDM16	63976	broad.mit.edu	37	1	3328888	3328888	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:3328888G>T	ENST00000378398.3	+	10	2212	c.2130G>T	c.(2128-2130)atG>atT	p.M710I	PRDM16_ENST00000511072.1_Missense_Mutation_p.M710I|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.M709I|PRDM16_ENST00000442529.2_Missense_Mutation_p.M709I|PRDM16_ENST00000441472.2_Missense_Mutation_p.M709I|PRDM16_ENST00000270722.5_Missense_Mutation_p.M709I|PRDM16_ENST00000514189.1_Missense_Mutation_p.M710I			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	709	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.M709I(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGGCTTCATGGGGATGCAGG	0.642000			T	EVI1	"""MDS, AML"""								16	74					1.67942e-08	2.10261e-08	0.006122	1	0
STAB2	55576	broad.mit.edu	37	12	104123896	104123896	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:104123896C>G	ENST00000388887.2	+	49	5289	c.5085C>G	c.(5083-5085)agC>agG	p.S1695R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1695	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.S1695R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATTTCAGAGCACGGTGTATA	0.328000													28	139					0	0	0.007291	0	0
FCN2	2220	broad.mit.edu	37	9	137774413	137774413	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:137774413A>G	ENST00000291744.6	+	2	152	c.142A>G	c.(142-144)Att>Gtt	p.I48V	FCN2_ENST00000350339.2_Intron	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	48					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.I48V(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CAAGCTCACCATTCTCCGAGG	0.632000													34	121					0	0	0.006999	0	0
MYOCD	93649	broad.mit.edu	37	17	12656522	12656522	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:12656522G>T	ENST00000425538.1	+	10	2117	c.1917G>T	c.(1915-1917)ccG>ccT	p.P639P	MYOCD_ENST00000343344.4_Silent_p.P639P|MYOCD_ENST00000395988.1_Silent_p.P543P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	639					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.P639P(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)		AGCATTCACCGCTGGGGGCTG	0.552000													25	186					1.1804e-14	1.61025e-14	0.003954	1	0
ZNF571	51276	broad.mit.edu	37	19	38056034	38056034	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:38056034T>A	ENST00000328550.2	-	4	1395	c.1296A>T	c.(1294-1296)aaA>aaT	p.K432N	ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.K432N|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.K432N|ZNF571_ENST00000358744.3_Missense_Mutation_p.K432N|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K432N(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTAAGTTGTTTGCCACAAA	0.363000													10	120					0	0	0.010729	0	0
HMCN1	83872	broad.mit.edu	37	1	185984418	185984418	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:185984418G>C	ENST00000271588.4	+	31	4987	c.4758G>C	c.(4756-4758)caG>caC	p.Q1586H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q1586H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1586	Ig-like C2-type 13.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Q1586H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGACGGGCAGCCAATCATGT	0.423000													5	44					0	0	0.001168	0	0
SDAD1	55153	broad.mit.edu	37	4	76894544	76894544	+	Splice_Site	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:76894544T>C	ENST00000356260.5	-	8	755	c.636_splice	c.e8-1	p.I213_splice	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Splice_Site_p.I176_splice	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	213					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	p.I213V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAACTAATATCTAAACACCA	0.348000													10	104					0	0	0.008291	0	0
IL9R	3581	broad.mit.edu	37	X	155227421	155227421	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:155227421T>C	ENST00000369423.2	+	1	51	c.13T>C	c.(13-15)Tgt>Cgt	p.C5R	IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_5'UTR|IL9R_ENST00000540897.1_5'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	0					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTCAGACTTGTGATGGGAC	0.522000													12	136					0	0	0.002450	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884889	12884889	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:12884889G>T	ENST00000535591.1	-	4	1417	c.1222C>A	c.(1222-1224)Ccc>Acc	p.P408T		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	408								p.P408T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATCCTCTTGGGGTGCCTTAAG	0.498000													18	307					6.49762e-13	8.68804e-13	0.006122	1	0
LRTM1	57408	broad.mit.edu	37	3	54959111	54959111	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:54959111G>T	ENST00000273286.5	-	2	301	c.139C>A	c.(139-141)Cat>Aat	p.H47N	CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	47	LRRNT.					integral to membrane		p.H47N(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGAGGTAAATGGGAAGGGATT	0.483000													7	42					5.18039e-06	6.00773e-06	0.003080	1	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:8420609T>G	ENST00000337907.3	-	19	3592	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_ENST00000400908.2_Silent_p.P986P|RERE_ENST00000377464.1_Silent_p.P718P|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	986	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(4)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000													5	19					0	0	0.004007	0	0
KIAA1257	57501	broad.mit.edu	37	3	128696922	128696922	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:128696922T>C	ENST00000265068.5	-	5	941	c.774A>G	c.(772-774)caA>caG	p.Q258Q	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Silent_p.Q146Q|KIAA1257_ENST00000511438.1_Silent_p.Q258Q	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	258								p.Q258Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CTGTTTTTTCTTGTTTTCCTG	0.453000													9	91					0	0	0.006214	0	0
LRTM2	654429	broad.mit.edu	37	12	1940308	1940308	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:1940308C>T	ENST00000543818.1	+	4	1117	c.275C>T	c.(274-276)tCc>tTc	p.S92F	LRTM2_ENST00000535041.1_Missense_Mutation_p.S92F|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S92F|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	92						integral to membrane		p.S92F(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCCAACCTCTCCAGCCTGCAG	0.612000													22	71					0	0	0.006320	0	0
CLCN3	1182	broad.mit.edu	37	4	170613432	170613432	+	Silent	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:170613432C>G	ENST00000513761.1	+	7	1456	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CLCN3_ENST00000504131.2_Silent_p.L282L|CLCN3_ENST00000360642.3_Silent_p.L299L|CLCN3_ENST00000347613.4_Silent_p.L299L	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	299					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	p.L299L(1)		breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		TTTCCTACCTCTTTCCAAAGT	0.363000													17	167					0	0	0.004990	0	0
FBXO39	162517	broad.mit.edu	37	17	6683889	6683889	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:6683889C>T	ENST00000321535.4	+	2	832	c.702C>T	c.(700-702)aaC>aaT	p.N234N		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	234								p.N234N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCAACTACAACTGTATCTCCG	0.502000													6	93					0	0	0.004482	0	0
MEOX2	4223	broad.mit.edu	37	7	15652162	15652162	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:15652162C>A	ENST00000262041.5	-	3	1174	c.765G>T	c.(763-765)cgG>cgT	p.R255R		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	255					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R255R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GTTCCTTTTCCCGAGCCGCAG	0.507000													19	95					2.89027e-11	3.81063e-11	0.014323	1	0
ZNF831	128611	broad.mit.edu	37	20	57829393	57829393	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:57829393G>C	ENST00000371030.2	+	5	4629	c.4629G>C	c.(4627-4629)ttG>ttC	p.L1543F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1543						intracellular	nucleic acid binding|zinc ion binding	p.L1543F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACCCTCTTGCCAGGGAGAC	0.502000													10	70					0	0	0.008291	0	0
CBLB	868	broad.mit.edu	37	3	105400605	105400605	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:105400605C>T	ENST00000264122.4	-	15	2580	c.2259G>A	c.(2257-2259)aaG>aaA	p.K753K	CBLB_ENST00000405772.1_Silent_p.K753K|CBLB_ENST00000394027.3_Silent_p.K775K|CBLB_ENST00000403724.1_Silent_p.K753K|CBLB_ENST00000407712.1_Silent_p.K12K	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	753	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.K753K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTTGATTTCTTCTCTGAAG	0.328000			Mis S		AML								10	73					0	0	0.010729	0	0
TTC39B	158219	broad.mit.edu	37	9	15177755	15177755	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:15177755C>A	ENST00000355694.2	-	18	1817	c.1583G>T	c.(1582-1584)tGc>tTc	p.C528F	TTC39B_ENST00000507993.1_Missense_Mutation_p.C429F|TTC39B_ENST00000512701.1_Missense_Mutation_p.C594F|TTC39B_ENST00000507285.1_Missense_Mutation_p.C429F|TTC39B_ENST00000297615.5_Missense_Mutation_p.C525F|TTC39B_ENST00000380850.4_Missense_Mutation_p.C581F	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	528							binding	p.C528F(1)|p.C594F(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GTTCTTGAGGCAACATCCTTT	0.363000													11	55					6.40141e-05	7.15987e-05	0.010729	1	0
ZNF687	57592	broad.mit.edu	37	1	151262666	151262666	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:151262666T>C	ENST00000368879.2	+	7	3131	c.3033T>C	c.(3031-3033)caT>caC	p.H1011H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.H1011H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGGCGCCATGTCAGAGTTA	0.587000													5	195					0	0	0.000602	0	0
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433000													3	86					0	0	0.004672	0	0
SMCHD1	23347	broad.mit.edu	37	18	2752505	2752505	+	Missense_Mutation	SNP	A	A	G	rs151002873	by1000genomes	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:2752505A>G	ENST00000320876.6	+	34	4639	c.4301A>G	c.(4300-4302)aAt>aGt	p.N1434S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.N1434S|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1434					chromosome organization		ATP binding	p.N1434S(2)|p.N882S(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTTAGTTGTAATAAAATAAAA	0.308000													3	23					0	0	0.004672	0	0
FRAS1	80144	broad.mit.edu	37	4	79360062	79360062	+	Silent	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:79360062A>T	ENST00000264895.6	+	40	5813	c.5373A>T	c.(5371-5373)tcA>tcT	p.S1791S	FRAS1_ENST00000325942.6_Silent_p.S1791S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1790					cell communication	integral to membrane|plasma membrane	metal ion binding	p.S1791S(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATAGATACTCAGCTGTGTTTG	0.373000													21	111					0	0	0.008871	0	0
KIAA1715	80856	broad.mit.edu	37	2	176794913	176794913	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:176794913C>A	ENST00000272748.4	-	13	1316	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	KIAA1715_ENST00000535310.1_3'UTR|KIAA1715_ENST00000544803.1_Missense_Mutation_p.D388Y	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	357						integral to membrane	protein binding	p.D357Y(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCAAGAACATCGTGTTCTAAA	0.353000													8	106					3.09899e-07	3.71249e-07	0.004482	1	0
PPP4R1	9989	broad.mit.edu	37	18	9550049	9550049	+	Splice_Site	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:9550049C>A	ENST00000400556.3	-	18	2621		c.e18+1		PPP4R1_ENST00000400555.3_Splice_Site	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1						protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	p.?(1)		large_intestine(1)|skin(2)	3						GCCTCGCTTACCTGGCAGACA	0.493000													10	77					6.40141e-05	7.15987e-05	0.010729	1	0
UNC45B	146862	broad.mit.edu	37	17	33475291	33475291	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:33475291G>A	ENST00000268876.5	+	2	106	c.9G>A	c.(7-9)gaG>gaA	p.E3E	UNC45B_ENST00000394570.2_Silent_p.E3E|UNC45B_ENST00000591048.1_Silent_p.E3E|UNC45B_ENST00000378449.1_Silent_p.E3E|UNC45B_ENST00000433649.1_Silent_p.E3E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	3					cell differentiation|muscle organ development	cytosol	binding	p.E3E(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGATGGCAGAGGTGGAAGCGG	0.622000													7	64					0	0	0.003080	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84608828	84608828	+	Missense_Mutation	SNP	C	C	T	rs139613817	by1000genomes	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:84608828C>T	ENST00000344803.2	+	4	3490	c.3443C>T	c.(3442-3444)cCt>cTt	p.P1148L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.P1148L(2)									AAGACCTTTCCTGTCACCAAT	0.453000													6	43					0	0	0.001168	0	0
EPHA8	2046	broad.mit.edu	37	1	22902781	22902781	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:22902781C>T	ENST00000166244.3	+	3	303	c.231C>T	c.(229-231)agC>agT	p.S77S	EPHA8_ENST00000538803.1_Silent_p.S77S|EPHA8_ENST00000374644.4_Silent_p.S77S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	77						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S77S(2)		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)		ACGTCATGAGCCCCAACCAGA	0.602000													13	121					0	0	0.002450	0	0
KRT24	192666	broad.mit.edu	37	17	38859775	38859775	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:38859775G>A	ENST00000264651.2	-	1	227	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	57	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.S57S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CAAAAGCACCGCTAGACCCCC	0.632000													24	59					0	0	0.007291	0	0
FAM154A	158297	broad.mit.edu	37	9	18941806	18941806	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:18941806C>G	ENST00000380534.4	-	3	529	c.250G>C	c.(250-252)Gtg>Ctg	p.V84L	FAM154A_ENST00000542071.1_Intron|FAM154A_ENST00000380530.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	84								p.V84L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		TGGACCTTCACTGGTGCCACT	0.483000													15	150					0	0	0.002450	0	0
COL17A1	1308	broad.mit.edu	37	10	105811939	105811939	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:105811939C>A	ENST00000353479.5	-	24	2266	c.1976G>T	c.(1975-1977)gGt>gTt	p.G659V	COL17A1_ENST00000369733.3_Missense_Mutation_p.G659V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	659	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.G659V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ACCTGGGACACCAGGTGGGCC	0.562000													76	467					1.8615e-32	2.74571e-32	0.014410	1	0
HUWE1	10075	broad.mit.edu	37	X	53585707	53585707	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:53585707C>A	ENST00000342160.3	-	58	8526	c.8069G>T	c.(8068-8070)cGa>cTa	p.R2690L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R2690L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2690					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.R2553L(1)|p.R2690L(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCGCTTCTCTCGCCTTTCTTC	0.458000													40	80					6.21074e-16	8.72461e-16	0.011902	1	0
TTC23L	153657	broad.mit.edu	37	5	34867062	34867062	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:34867062T>A	ENST00000505624.1	+	7	831	c.728T>A	c.(727-729)gTt>gAt	p.V243D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	243							binding	p.V243Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						ATTGGCGATGTTATTGCTGCC	0.498000													7	13					0	0	0.001984	0	0
ITPK1	3705	broad.mit.edu	37	14	93412788	93412788	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:93412788C>A	ENST00000267615.6	-	10	962	c.789G>T	c.(787-789)cgG>cgT	p.R263R	ITPK1_ENST00000556603.2_Silent_p.R263R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Silent_p.R144R|ITPK1_ENST00000354313.3_Silent_p.R263R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	263	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.R263R(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		GGGAGAGCTCCCGGATGACCT	0.622000													8	50					9.70103e-10	1.24765e-09	0.008291	1	0
AFG3L2	10939	broad.mit.edu	37	18	12340269	12340269	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:12340269G>A	ENST00000269143.3	-	15	2142	c.1911C>T	c.(1909-1911)atC>atT	p.I637I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	637					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.I637I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TTCCAAAGAAGATTTCTTCAG	0.398000													8	249					0	0	0.008291	0	0
TP53	7157	broad.mit.edu	37	17	7578175	7578175	+	Splice_Site	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:7578175A>G	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_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.?(27)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		TGCAAACCAGACCTCAGGCGG	0.532000		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)			4	39					0	0	0.009096	0	0
PRDM9	56979	broad.mit.edu	37	5	23518003	23518003	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:23518003G>T	ENST00000296682.3	+	5	497	c.315G>T	c.(313-315)tgG>tgT	p.W105C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	105					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.W105C(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AACCTCCTTGGATGGCCTTAA	0.373000										HNSCC(3;0.000094)			12	192					2.48551e-13	3.33284e-13	0.004990	1	0
PRKG1	5592	broad.mit.edu	37	10	53227491	53227491	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:53227491G>T	ENST00000373980.4	+	3	904	c.487G>T	c.(487-489)Gtt>Ttt	p.V163F	PRKG1_ENST00000373985.1_Missense_Mutation_p.V136F|PRKG1_ENST00000401604.2_Missense_Mutation_p.V148F	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	148					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.K147_V148>NF(1)|p.K162_V163>NF(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)		AGATGGTAAGGTTGAAGTTAC	0.388000													4	23					0.000602214	0.000656455	0.000602	1	0
SLIT2	9353	broad.mit.edu	37	4	20570537	20570537	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:20570537G>A	ENST00000504154.1	+	29	3250	c.2998G>A	c.(2998-3000)Gat>Aat	p.D1000N	SLIT2_ENST00000503823.1_Missense_Mutation_p.D992N|SLIT2_ENST00000503837.1_Missense_Mutation_p.D996N|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1004N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1000	EGF-like 3; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1000N(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGTCAACGTTGATGATTGTGA	0.353000													6	58					0	0	0.001984	0	0
KCNU1	157855	broad.mit.edu	37	8	36766921	36766921	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:36766921C>A	ENST00000399881.3	+	21	2236	c.2199C>A	c.(2197-2199)aaC>aaA	p.N733K		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	733						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.N733K(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GGCTTCGGAACTTTGTAATGC	0.463000													25	275					1.26454e-06	1.48844e-06	0.005443	1	0
USH2A	7399	broad.mit.edu	37	1	215953238	215953238	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:215953238C>T	ENST00000366943.2	-	55	11272	c.10886G>A	c.(10885-10887)gGg>gAg	p.G3629E	USH2A_ENST00000307340.3_Missense_Mutation_p.G3629E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3629	Fibronectin type-III 21.				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.G3629E(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)		GAGACCTTTCCCAACCTGCCT	0.488000										HNSCC(13;0.011)			7	122					0	0	0.003080	0	0
OR6F1	343169	broad.mit.edu	37	1	247875404	247875404	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:247875404A>G	ENST00000302084.2	-	1	701	c.654T>C	c.(652-654)taT>taC	p.Y218Y	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y218Y(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)			TGATGTACACATAGGAGACAA	0.542000													24	172					0	0	0.003954	0	0
FABP12	646486	broad.mit.edu	37	8	82439309	82439309	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:82439309C>A	ENST00000360464.4	-	3	356	c.294G>T	c.(292-294)tgG>tgT	p.W98C	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	98							lipid binding|transporter activity	p.W98C(2)		large_intestine(1)|lung(3)	4						CTTTGCCATCCCAGTCCTGAA	0.418000													3	16					0.00909568	0.00954036	0.009096	1	0
ATXN2L	11273	broad.mit.edu	37	16	28845407	28845407	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:28845407A>G	ENST00000336783.4	+	16	2214	c.2047A>G	c.(2047-2049)Act>Gct	p.T683A	ATXN2L_ENST00000325215.6_Missense_Mutation_p.T683A|ATXN2L_ENST00000564304.1_Missense_Mutation_p.T689A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T683A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.T683A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T683A|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T683A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	683						membrane		p.T683A(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CAGTACCCCAACTTCTCCGGG	0.498000													13	112					0	0	0.001855	0	0
CSAD	51380	broad.mit.edu	37	12	53563881	53563881	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:53563881C>T	ENST00000267085.4	-	10	991	c.758G>A	c.(757-759)aGg>aAg	p.R253K	CSAD_ENST00000379846.1_Missense_Mutation_p.R79K|CSAD_ENST00000444623.1_Missense_Mutation_p.R226K|CSAD_ENST00000379843.3_Missense_Mutation_p.R79K|CSAD_ENST00000453446.2_Missense_Mutation_p.R226K	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	226					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	p.R226K(1)|p.R253K(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACCAATCTGCCTCTCCAGATC	0.532000													7	58					0	0	0.003080	0	0
STOM	2040	broad.mit.edu	37	9	124116915	124116915	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:124116915A>G	ENST00000286713.2	-	3	219	c.202T>C	c.(202-204)Ttg>Ctg	p.L68L	STOM_ENST00000538954.1_Silent_p.L17L|STOM_ENST00000347359.2_Intron	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	68					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding	p.L68L(1)		endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		ATGCGACCCAATCTAAAGATG	0.299000													3	53					0	0	0.009096	0	0
COL11A2	1302	broad.mit.edu	37	6	33156855	33156855	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:33156855C>G	ENST00000341947.2	-	3	570	c.343G>C	c.(343-345)Gag>Cag	p.E115Q	COL11A2_ENST00000374708.4_Missense_Mutation_p.E115Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.E115Q|COL11A2_ENST00000374712.1_Missense_Mutation_p.E115Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	115	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.E115Q(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGGCCCAGCTCCAGGCCCAGC	0.617000													10	135					0	0	0.010729	0	0
DNMBP	23268	broad.mit.edu	37	10	101716274	101716274	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:101716274C>A	ENST00000342239.3	-	4	1048	c.957G>T	c.(955-957)agG>agT	p.R319S	DNMBP_ENST00000324109.4_Missense_Mutation_p.R319S|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	319					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R319S(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTTCCGGGATCCTGGCAAGGC	0.517000													14	77					7.93312e-07	9.38454e-07	0.002450	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23509712	23509712	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:23509712G>T	ENST00000258729.3	-	1	374	c.18C>A	c.(16-18)atC>atA	p.I6I		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	6	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.I6I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						TGAGGTTTCCGATATACAGTT	0.478000													42	173					1.6237e-14	2.2086e-14	0.013114	1	0
CTSE	1510	broad.mit.edu	37	1	206327587	206327587	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:206327587C>T	ENST00000361052.3	+	6	909	c.791C>T	c.(790-792)gCa>gTa	p.A264V	CTSE_ENST00000360218.2_Missense_Mutation_p.A259V|CTSE_ENST00000432969.2_Missense_Mutation_p.A184V|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000358184.2_Missense_Mutation_p.A259V			P14091	CATE_HUMAN	cathepsin E	264					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity	p.A259V(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGCAGATTGCACTGGATAAG	0.493000													15	247					0	0	0.004990	0	0
EBF2	64641	broad.mit.edu	37	8	25902344	25902344	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:25902344C>T	ENST00000520164.1	-	1	569	c.32G>A	c.(31-33)gGa>gAa	p.G11E		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G11E(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAGAGTTGGTCCTCTTCCTAA	0.488000													14	99					0	0	0.001855	0	0
IGFLR1	79713	broad.mit.edu	37	19	36231430	36231430	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:36231430G>C	ENST00000592537.1	-	3	293	c.193C>G	c.(193-195)Cac>Gac	p.H65D	IGFLR1_ENST00000587101.1_5'UTR|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000246532.1_Missense_Mutation_p.H65D|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000592889.1_Intron			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	65						integral to membrane|plasma membrane	protein binding|receptor activity	p.H65D(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						AAATCGCCGTGGTCATTGAGT	0.662000													4	151					0	0	0.000602	0	0
MMP17	4326	broad.mit.edu	37	12	132322635	132322635	+	Translation_Start_Site	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:132322635G>A	ENST00000535291.1	+	0	35				MMP17_ENST00000360564.1_Intron			Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)						proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAGATAGGGGGCTGGGAGGGG	0.647000													6	25					0	0	0.003080	0	0
C6orf57	135154	broad.mit.edu	37	6	71298357	71298357	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:71298357G>T	ENST00000370474.3	+	3	281	c.257G>T	c.(256-258)gGt>gTt	p.G86V		NM_145267.2	NP_660310.2	Q5VUM1	CF057_HUMAN	chromosome 6 open reading frame 57	86						extracellular region		p.G86F(1)		kidney(1)|lung(1)|skin(1)	3						AAAGAAAAAGGTGGACCCAGG	0.388000													8	56					1.58986e-06	1.85746e-06	0.008291	1	0
CES5A	221223	broad.mit.edu	37	16	55900000	55900000	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:55900000A>T	ENST00000521992.1	-	6	812	c.667T>A	c.(667-669)Tgg>Agg	p.W223R	CES5A_ENST00000319165.9_Missense_Mutation_p.W194R|CES5A_ENST00000290567.9_Missense_Mutation_p.W194R|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000520435.1_Missense_Mutation_p.W164R|CES5A_ENST00000518005.1_Missense_Mutation_p.W88R	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	194						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.W223R(1)|p.W194R(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGAAGGCCCAGTTCCCCGGA	0.582000													7	44					0	0	0.003080	0	0
TTC33	23548	broad.mit.edu	37	5	40730417	40730417	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:40730417C>T	ENST00000337702.4	-	3	402	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	TTC33_ENST00000503936.2_Intron	NM_012382.2	NP_036514.1	Q6PID6	TTC33_HUMAN	tetratricopeptide repeat domain 33	84							binding	p.E84K(1)		NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGTAGTGCTTCATCCCACTTC	0.318000													34	131					0	0	0.004289	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375653	16375653	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:16375653T>C	ENST00000375679.4	+	8	805	c.694T>C	c.(694-696)Tct>Cct	p.S232P	CLCNKB_ENST00000375667.3_Missense_Mutation_p.S63P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.S232P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCACTTCTCTGTCTGGGA	0.637000													14	155					0	0	0.003163	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734444	28734444	+	RNA	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:28734444G>T	ENST00000550043.1	+	0	849																											CACGTCACTTGTGTTTATTTG	0.378000													3	11					0.00024832	0.00027449	0.009096	1	0
TBC1D32	221322	broad.mit.edu	37	6	121605039	121605039	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:121605039C>A	ENST00000275159.6	-	13	1389	c.1390G>T	c.(1390-1392)Gat>Tat	p.D464Y	TBC1D32_ENST00000398212.2_Missense_Mutation_p.D464Y					TBC1 domain family, member 32									p.D464Y(1)									ACAAGCAGATCTATGAGGGAT	0.313000													4	25					0.00909568	0.00954036	0.009096	1	0
FSCN3	29999	broad.mit.edu	37	7	127235632	127235632	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:127235632G>T	ENST00000265825.5	+	2	635	c.416G>T	c.(415-417)cGa>cTa	p.R139L	FSCN3_ENST00000420086.2_Missense_Mutation_p.R5L	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	139						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.R139L(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGACCCCCCGACCAGCCCTC	0.592000													34	71					3.93418e-24	5.69612e-24	0.004289	1	0
SNAP91	9892	broad.mit.edu	37	6	84269834	84269834	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:84269834G>T	ENST00000428679.2	-	28	3213	c.2620C>A	c.(2620-2622)Cct>Act	p.P874T	SNAP91_ENST00000437520.1_Missense_Mutation_p.P567T|SNAP91_ENST00000520302.1_Missense_Mutation_p.P844T|SNAP91_ENST00000369694.2_Missense_Mutation_p.P874T|SNAP91_ENST00000520213.1_Missense_Mutation_p.P567T|SNAP91_ENST00000439399.2_Missense_Mutation_p.P874T|SNAP91_ENST00000195649.6_Missense_Mutation_p.P869T|SNAP91_ENST00000521743.1_Missense_Mutation_p.P874T|SNAP91_ENST00000521485.1_Missense_Mutation_p.P869T			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	874	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.P874T(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGTGCCAGGTACAGCGGCA	0.493000													8	65					1.58986e-06	1.85746e-06	0.008291	1	0
CACNA1E	777	broad.mit.edu	37	1	181725177	181725177	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:181725177A>T	ENST00000526775.1	+	28	4183	c.4018A>T	c.(4018-4020)Atc>Ttc	p.I1340F	CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1291F|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1340F|CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1359F|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1359F|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1310F|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I966F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1359					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGACAACATTATCTGGGCCCT	0.512000													7	50					0	0	0.003080	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881086	142881086	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:142881086C>T	ENST00000446620.1	+	1	575	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	192					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.S192F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CCTATCCACTCCTCCAACTCC	0.443000													8	95					0	0	0.004482	0	0
MIPEP	4285	broad.mit.edu	37	13	24449047	24449047	+	Splice_Site	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:24449047G>T	ENST00000382172.3	-	5	639	c.539_splice	c.e5-1	p.R181_splice		NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	181					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.R181R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TCAGCCACTCGCCTATAAATG	0.318000													9	74					0.00829132	0.00877467	0.008291	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716171	13716171	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:13716171C>T	ENST00000279593.3	-	13	4210	c.4001G>A	c.(4000-4002)aGc>aAc	p.S1334N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1334					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.S1334N(1)		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)	GGCGTAGGGGCTCCCATCCAT	0.597000													10	74					0	0	0.013537	0	0
SF3B4	10262	broad.mit.edu	37	1	149898396	149898396	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:149898396C>G	ENST00000271628.8	-	3	1162	c.578G>C	c.(577-579)cGa>cCa	p.R193P		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	193						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.R193P(1)|p.R193Q(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGCCAGAAGTCGTTCGGCTGC	0.562000													23	116					0	0	0.013726	0	0
YLPM1	56252	broad.mit.edu	37	14	75230867	75230867	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:75230867G>A	ENST00000325680.7	+	1	799	c.675G>A	c.(673-675)ttG>ttA	p.L225L	YLPM1_ENST00000238571.3_Silent_p.L225L|YLPM1_ENST00000552421.1_Silent_p.L225L	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		p.L225L(2)		breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGTCCTACTTGCCCTCTTCTC	0.577000													40	72					0	0	0.011902	0	0
CNTN4	152330	broad.mit.edu	37	3	3084066	3084066	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:3084066C>T	ENST00000397461.1	+	20	2855	c.2471C>T	c.(2470-2472)tCc>tTc	p.S824F	CNTN4_ENST00000427331.1_Missense_Mutation_p.S824F|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.S496F|CNTN4_ENST00000448906.2_Missense_Mutation_p.S496F|CNTN4_ENST00000358480.3_Missense_Mutation_p.S605F|CNTN4_ENST00000418658.1_Missense_Mutation_p.S824F	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	824	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.S824F(1)|p.S496F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTCTGGGCCTCCCCACTGGAG	0.448000													12	44					0	0	0.002450	0	0
PCNXL3	399909	broad.mit.edu	37	11	65402863	65402863	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:65402863G>A	ENST00000355703.3	+	31	5667	c.5128G>A	c.(5128-5130)Gac>Aac	p.D1710N		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1710						integral to membrane		p.D1710N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGATGCCTCCGACGAGTACAA	0.637000													3	23					0	0	0.004672	0	0
PTN	5764	broad.mit.edu	37	7	136938296	136938296	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:136938296C>G	ENST00000348225.2	-	3	631	c.204G>C	c.(202-204)gaG>gaC	p.E68D	PTN_ENST00000393083.2_Missense_Mutation_p.E68D	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	68					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.E68D(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						TCCGAGTGCCCTCCCGTGTGC	0.522000													12	84					0	0	0.010729	0	0
PTH2R	5746	broad.mit.edu	37	2	209309587	209309587	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:209309587G>A	ENST00000272847.2	+	7	1041	c.828G>A	c.(826-828)ctG>ctA	p.L276L	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	276						integral to plasma membrane	parathyroid hormone receptor activity	p.L276L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		CCAAATACCTGTGGGGCTTCA	0.408000													27	247					0	0	0.005443	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900357	151900357	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:151900357A>G	ENST00000393900.3	-	3	797	c.444T>C	c.(442-444)ccT>ccC	p.P148P	MAGEA12_ENST00000357916.4_Silent_p.P148P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.P148P	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	148	MAGE.							p.P148P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCACAGGAAAGAAGT	0.512000													3	156					0	0	0.009096	0	0
LPAL2	80350	broad.mit.edu	37	6	160932075	160932075	+	RNA	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:160932075C>T	ENST00000335388.5	-	0	81					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		AAAGTGTGTCCCAATCCCAGG	0.418000													11	147					0	0	0.010729	0	0
TTN	7273	broad.mit.edu	37	2	179453980	179453980	+	Silent	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:179453980A>T	ENST00000589042.1	-	304	62696	c.62472T>A	c.(62470-62472)gcT>gcA	p.A20824A	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.A11951A|TTN_ENST00000359218.5_Silent_p.A11884A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.A18256A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.A19183A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.A11759A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19183	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A11951A(1)|p.A11884A(1)|p.A18256A(1)|p.A11759A(1)|p.A18254A(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)			TAGATGAATCAGCACGGGTAT	0.453000													19	191					0	0	0.007413	0	0
PSD4	23550	broad.mit.edu	37	2	113942967	113942967	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:113942967A>G	ENST00000245796.6	+	4	1394	c.1199A>G	c.(1198-1200)cAg>cGg	p.Q400R	PSD4_ENST00000441564.2_Missense_Mutation_p.Q400R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	400					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.Q400R(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGGGCTGGCAGAGAGGAGGT	0.582000													4	268					0	0	0.001168	0	0
FN1	2335	broad.mit.edu	37	2	216284104	216284104	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:216284104T>A	ENST00000354785.4	-	12	2049	c.1680A>T	c.(1678-1680)caA>caT	p.Q560H	FN1_ENST00000421182.1_Missense_Mutation_p.Q560H|FN1_ENST00000359671.1_Missense_Mutation_p.Q560H|FN1_ENST00000357867.4_Missense_Mutation_p.Q560H|FN1_ENST00000357009.2_Missense_Mutation_p.Q560H|FN1_ENST00000356005.4_Missense_Mutation_p.Q560H|FN1_ENST00000446046.1_Missense_Mutation_p.Q560H|FN1_ENST00000443816.1_Missense_Mutation_p.Q560H|FN1_ENST00000432072.2_Missense_Mutation_p.Q560H|FN1_ENST00000426059.1_Missense_Mutation_p.Q560H|FN1_ENST00000346544.3_Missense_Mutation_p.Q560H|FN1_ENST00000345488.5_Missense_Mutation_p.Q560H|FN1_ENST00000323926.6_Missense_Mutation_p.Q560H|FN1_ENST00000336916.4_Missense_Mutation_p.Q560H			P02751	FINC_HUMAN	fibronectin 1	560	Collagen-binding.|Fibronectin type-I 9.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.Q560H(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTGGCATTGGTCTAAAA	0.398000													6	79					0	0	0.001168	0	0
CARD8	22900	broad.mit.edu	37	19	48735020	48735020	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:48735020T>C	ENST00000391898.3	-	5	481	c.439A>G	c.(439-441)Aaa>Gaa	p.K147E	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520153.1_Missense_Mutation_p.K97E|CARD8_ENST00000359009.4_Missense_Mutation_p.K42E|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Missense_Mutation_p.K147E|CARD8_ENST00000521613.1_Missense_Mutation_p.K97E|CARD8_ENST00000520753.1_Missense_Mutation_p.K147E|CARD8_ENST00000519940.1_Missense_Mutation_p.K147E|CARD8_ENST00000447740.2_Missense_Mutation_p.K97E	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	42					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity	p.K42E(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AAACAGACTTTAGAAGCATAA	0.378000													34	100					0	0	0.004289	0	0
RXRG	6258	broad.mit.edu	37	1	165378824	165378824	+	Silent	SNP	G	G	A	rs149401256		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:165378824G>A	ENST00000359842.5	-	7	1319	c.1017C>T	c.(1015-1017)caC>caT	p.H339H		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	339	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.H339H(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CCCCAGCACTGTGGGCACTGC	0.522000													13	9					0	0	0.002450	0	0
IGSF1	3547	broad.mit.edu	37	X	130412660	130412660	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:130412660T>G	ENST00000370904.1	-	18	2699	c.1789A>C	c.(1789-1791)Aag>Cag	p.K597Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.K611Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.K597Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.K606Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	606	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.K606Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTAAGTTCTTCCACGGGGCC	0.547000													14	77					0	0	0.006122	0	0
OR2T33	391195	broad.mit.edu	37	1	248436738	248436738	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:248436738G>C	ENST00000318021.2	-	1	400	c.379C>G	c.(379-381)Cca>Gca	p.P127A		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127A(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TATCGGAGTGGGTGGCAGACA	0.597000													12	119					0	0	0.003163	0	0
ZMYM6	9204	broad.mit.edu	37	1	35496222	35496222	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:35496222C>A	ENST00000357182.4	-	2	246	c.19G>T	c.(19-21)Ggt>Tgt	p.G7C	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.G7C|ZMYM6_ENST00000487874.1_Missense_Mutation_p.G7C|ZMYM6_ENST00000373333.1_Missense_Mutation_p.G7C|ZMYM6_ENST00000317538.5_Missense_Mutation_p.G7C	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	7					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.G7C(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CCACATTCACCATCCAAAGGT	0.368000													29	183					3.90053e-15	5.35189e-15	0.012213	1	0
DMBT1	1755	broad.mit.edu	37	10	124378844	124378844	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:124378844C>T	ENST00000368909.3	+	39	4955	c.4849C>T	c.(4849-4851)Ccc>Tcc	p.P1617S	DMBT1_ENST00000338354.3_Missense_Mutation_p.P1617S|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1607S|DMBT1_ENST00000330163.4_Missense_Mutation_p.P989S|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.P989S|DMBT1_ENST00000368955.3_Missense_Mutation_p.P1607S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1617					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.P1617S(2)|p.P1746S(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCAGTCAACGCCCAGGCCAGG	0.507000													41	234					0	0	0.011902	0	0
COPA	1314	broad.mit.edu	37	1	160268767	160268767	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:160268767C>T	ENST00000241704.7	-	19	2074	c.1845G>A	c.(1843-1845)gtG>gtA	p.V615V	COPA_ENST00000368069.3_Silent_p.V624V	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	615					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.V615V(1)|p.V624V(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGCATTCCTCACCATGTGCA	0.433000													6	143					0	0	0.001984	0	0
AKR1D1	6718	broad.mit.edu	37	7	137792171	137792171	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:137792171T>A	ENST00000242375.3	+	7	742	c.700T>A	c.(700-702)Tct>Act	p.S234T	AKR1D1_ENST00000432161.1_Missense_Mutation_p.S234T|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.S193T	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	234					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.S234S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGTGAATGTTTCTTCTCCACC	0.378000													11	91					0	0	0.001855	0	0
BBS5	129880	broad.mit.edu	37	2	170359635	170359635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:170359635C>T	ENST00000295240.3	+	10	1223	c.847C>T	c.(847-849)Caa>Taa	p.Q283*	BBS5_ENST00000392663.2_Nonsense_Mutation_p.Q262*|RP11-724O16.1_ENST00000513963.1_Nonsense_Mutation_p.Q283*|BBS5_ENST00000554017.1_Nonsense_Mutation_p.Q283*	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5									p.Q283*(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GACAGTCGAACAAATTCAAGA	0.393000									Bardet-Biedl syndrome				14	28					0	0	0.010504	0	0
FOXO3	2309	broad.mit.edu	37	6	108985209	108985209	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:108985209G>A	ENST00000406360.1	+	2	1516	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	FOXO3_ENST00000343882.6_Silent_p.L391L|FOXO3_ENST00000540898.1_Silent_p.L171L	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	391					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.L391L(1)		central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ACGACCTGCTGGATAACATCA	0.592000													9	37					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	185834871	185834871	+	Splice_Site	SNP	A	A	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:185834871A>C	ENST00000271588.4	+	4	727		c.e4-1		HMCN1_ENST00000367492.2_Splice_Site	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus|visual perception	basement membrane	calcium ion binding	p.?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTTAATCATAGGTCGTATTT	0.333000													3	35					0	0	0.004672	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17373541	17373541	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:17373541C>A	ENST00000377602.4	-	5	462	c.388G>T	c.(388-390)Gct>Tct	p.A130S		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	130					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.A130S(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						CAGCAGGAAGCAAGTTTGGCT	0.403000													9	56					1.12685e-05	1.29096e-05	0.004482	1	0
OR6X1	390260	broad.mit.edu	37	11	123624563	123624563	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:123624563C>A	ENST00000327930.2	-	1	690	c.664G>T	c.(664-666)Gca>Tca	p.A222S		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A222S(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CGTAGGATTGCGGACAGAATG	0.483000													12	122					0.00185496	0.00199895	0.001855	1	0
PCNXL3	399909	broad.mit.edu	37	11	65385568	65385568	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:65385568C>T	ENST00000355703.3	+	6	1274	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	245						integral to membrane		p.L126L(2)|p.L245L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGGGGAGCCTCAGCCAGGAGC	0.657000													3	11					0	0	0.009096	0	0
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:61623123C>A	ENST00000583023.1	+	14	2856	c.2845C>A	c.(2845-2847)Cta>Ata	p.L949I	KCNH6_ENST00000314672.5_Missense_Mutation_p.L913I|KCNH6_ENST00000581784.1_Missense_Mutation_p.L860I|KCNH6_ENST00000456941.2_Missense_Mutation_p.L860I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	949					regulation of transcription, DNA-dependent|signal transduction			p.L949V(1)|p.L949I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCTCACCTCTACATCCCCT	0.587000													32	123					4.10981e-09	5.2146e-09	0.005524	1	0
LHCGR	3973	broad.mit.edu	37	2	48915895	48915895	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:48915895T>C	ENST00000294954.7	-	11	1062	c.1041A>G	c.(1039-1041)ccA>ccG	p.P347P	LHCGR_ENST00000401907.1_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.P285P|LHCGR_ENST00000403273.1_Intron|LHCGR_ENST00000405626.1_Silent_p.P320P	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	347					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.P347P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TAAAAGCATCTGGTTCAGGAG	0.438000													20	126					0	0	0.012319	0	0
TPTE2	93492	broad.mit.edu	37	13	20012237	20012237	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:20012237C>A	ENST00000400230.2	-	14	1074	c.1030G>T	c.(1030-1032)Gcc>Tcc	p.A344S	TPTE2_ENST00000382975.4_Missense_Mutation_p.A304S|TPTE2_ENST00000255310.6_Missense_Mutation_p.A267S|TPTE2_ENST00000382977.4_Missense_Mutation_p.A344S|TPTE2_ENST00000400103.2_Missense_Mutation_p.A233S|TPTE2_ENST00000390680.2_Missense_Mutation_p.A267S|TPTE2_ENST00000457266.2_Missense_Mutation_p.A233S|TPTE2_ENST00000382978.1_Missense_Mutation_p.A304S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	344	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.A267S(1)|p.A344S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CATACCTCGGCAGTTAAAAAT	0.368000													18	52					1.33834e-09	1.71656e-09	0.007413	1	0
OR5D13	390142	broad.mit.edu	37	11	55541338	55541338	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:55541338T>C	ENST00000361760.1	+	1	425	c.425T>C	c.(424-426)cTc>cCc	p.L142P		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142P(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCTCAGAAGCTCTGTGCTCTT	0.433000													18	144					0	0	0.007413	0	0
RPS3	6188	broad.mit.edu	37	11	75115888	75115888	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:75115888C>T	ENST00000531188.1	+	6	773	c.711C>T	c.(709-711)ccC>ccT	p.P237P	RPS3_ENST00000526608.1_Silent_p.P225P|RPS3_ENST00000534440.1_Silent_p.P152P|RPS3_ENST00000524851.1_Silent_p.P237P|RPS3_ENST00000527446.1_Silent_p.P237P|RPS3_ENST00000278572.6_Silent_p.P253P	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	237					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome	p.P237P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CTGCCATGCCCCAGCCAGTCC	0.557000													5	22					0	0	0.013537	0	0
SBK2	646643	broad.mit.edu	37	19	56042603	56042603	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:56042603C>T	ENST00000413299.1	-	3	400	c.363G>A	c.(361-363)acG>acA	p.T121T	SBK2_ENST00000344158.3_Silent_p.T121T	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	121	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.T121T(2)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						TGCCGTAGGCCGTCACGATGG	0.642000													7	63					0	0	0.003080	0	0
OR52B6	340980	broad.mit.edu	37	11	5602711	5602711	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:5602711G>A	ENST00000345043.2	+	1	605	c.605G>A	c.(604-606)gGc>gAc	p.G202D	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G202D(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACATGGGCATTGCCCAT	0.453000													9	320					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764222	77764222	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:77764222C>G	ENST00000521891.2	+	10	5513	c.5065C>G	c.(5065-5067)Cag>Gag	p.Q1689E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q1663E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q1644E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q1644E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1644	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q1689E(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)			TCACCCACCACAGTCACCAGC	0.418000										HNSCC(33;0.089)			27	83					0	0	0.004656	0	0
TP53	7157	broad.mit.edu	37	17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	rs67185453		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:7577535C>A	ENST00000420246.2	-	7	878	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_ENST00000445888.2_Missense_Mutation_p.R249M|TP53_ENST00000413465.2_Missense_Mutation_p.R249M|TP53_ENST00000359597.4_Missense_Mutation_p.R249M|TP53_ENST00000455263.2_Missense_Mutation_p.R249M|TP53_ENST00000269305.4_Missense_Mutation_p.R249M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249M(38)|p.R249K(20)|p.R249T(16)|p.0?(8)|p.?(5)|p.R249fs*96(4)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(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)		GAGGATGGGCCTCCGGTTCAT	0.567000		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)			6	68					2.7689e-08	3.44833e-08	0.001984	1	0
AKR1D1	6718	broad.mit.edu	37	7	137792172	137792172	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:137792172C>G	ENST00000242375.3	+	7	743	c.701C>G	c.(700-702)tCt>tGt	p.S234C	AKR1D1_ENST00000432161.1_Missense_Mutation_p.S234C|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Missense_Mutation_p.S193C	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	234					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.S234S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GTGAATGTTTCTTCTCCACCT	0.383000													11	91					0	0	0.001855	0	0
MYO3A	53904	broad.mit.edu	37	10	26377216	26377216	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:26377216G>T	ENST00000265944.5	+	15	1610	c.1444G>T	c.(1444-1446)Gac>Tac	p.D482Y	MYO3A_ENST00000543632.1_Missense_Mutation_p.D482Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	482	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.D482Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATTATAAATGACAATTCTAG	0.363000													14	80					0.000422831	0.000465213	0.004007	1	0
THAP1	55145	broad.mit.edu	37	8	42693223	42693223	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:42693223C>T	ENST00000254250.3	-	3	754	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	175					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	p.R175Q(1)		NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTCAAGCTGCCGTTCTTGCCT	0.418000													35	172					0	0	0.006999	0	0
TENM4	26011	broad.mit.edu	37	11	78399145	78399145	+	Silent	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:78399145T>G	ENST00000278550.7	-	29	5676	c.5214A>C	c.(5212-5214)atA>atC	p.I1738I		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4									p.I1738I(2)									GGTTGGTGGTTATGGTGACAT	0.557000													15	151					0	0	0.002450	0	0
KAT7	11143	broad.mit.edu	37	17	47875785	47875785	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:47875785C>T	ENST00000259021.4	+	4	725	c.445C>T	c.(445-447)Cac>Tac	p.H149Y	KAT7_ENST00000509773.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000424009.2_Missense_Mutation_p.H149Y|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000510819.1_Intron	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	149					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H149Y(1)									CAATGTATCTCACGATGAGAG	0.498000													9	108					0	0	0.006214	0	0
HIVEP1	3096	broad.mit.edu	37	6	12122960	12122960	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:12122960A>T	ENST00000379388.2	+	4	3264	c.2932A>T	c.(2932-2934)Aag>Tag	p.K978*		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	978					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.K978*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGAAAATCATAAGAAATTTTA	0.413000													27	167					0	0	0.004656	0	0
DMBT1	1755	broad.mit.edu	37	10	124378843	124378843	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:124378843G>T	ENST00000368909.3	+	39	4954	c.4848G>T	c.(4846-4848)acG>acT	p.T1616T	DMBT1_ENST00000338354.3_Silent_p.T1616T|DMBT1_ENST00000344338.3_Silent_p.T1606T|DMBT1_ENST00000330163.4_Silent_p.T988T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Silent_p.T988T|DMBT1_ENST00000368955.3_Silent_p.T1606T	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1616					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.P1617S(2)|p.P1746S(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCCAGTCAACGCCCAGGCCAG	0.507000													43	235					2.56662e-36	3.79763e-36	0.013114	1	0
OR2C3	81472	broad.mit.edu	37	1	247694974	247694974	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:247694974G>A	ENST00000366487.3	-	2	1201	c.840C>T	c.(838-840)acC>acT	p.T280T	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T279T(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GAGTGACTACGGTGTAGAACA	0.532000													15	94					0	0	0.003163	0	0
RIF1	55183	broad.mit.edu	37	2	152273319	152273319	+	Splice_Site	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:152273319A>G	ENST00000243326.4	+	5	891		c.e5-1		RIF1_ENST00000444746.2_Splice_Site|RIF1_ENST00000433166.2_Splice_Site|RIF1_ENST00000453091.2_Splice_Site|RIF1_ENST00000430328.2_Splice_Site|RIF1_ENST00000428287.2_Splice_Site			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.?(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TTCGTTTTTTAGGTATCCAGT	0.294000													26	84					0	0	0.003954	0	0
KIF1B	23095	broad.mit.edu	37	1	10412785	10412785	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:10412785A>G	ENST00000377086.1	+	38	4248	c.4046A>G	c.(4045-4047)aAc>aGc	p.N1349S	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.N1349S|KIF1B_ENST00000263934.6_Missense_Mutation_p.N1303S			O60333	KIF1B_HUMAN	kinesin family member 1B	1349					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.N1303S(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTCCCACAACTCTAGCAGG	0.468000													17	87					0	0	0.004990	0	0
MSH6	2956	broad.mit.edu	37	2	48026387	48026387	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:48026387A>G	ENST00000234420.4	+	4	1417	c.1265A>G	c.(1264-1266)gAt>gGt	p.D422G	MSH6_ENST00000540021.1_Missense_Mutation_p.D292G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.D120G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	422					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D422G(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGAACTTTGATCTTGTCATC	0.443000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	120					0	0	0.004482	0	0
OR8H2	390151	broad.mit.edu	37	11	55873453	55873453	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:55873453G>A	ENST00000313503.1	+	1	935	c.935G>A	c.(934-936)aGg>aAg	p.R312K		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R312K(1)		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)					CAGGACTCCAGGTAATTAATA	0.348000										HNSCC(53;0.14)			11	85					0	0	0.008291	0	0
NDUFB3	4709	broad.mit.edu	37	2	201950245	201950245	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:201950245T>C	ENST00000237889.4	+	3	527	c.204T>C	c.(202-204)ttT>ttC	p.F68F	NDUFB3_ENST00000454214.1_Silent_p.F68F|NDUFB3_ENST00000433898.1_Silent_p.F68F	NM_001257102.1|NM_002491.2	NP_001244031.1|NP_002482.1	O43676	NDUB3_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa	68					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.F68F(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3					NADH(DB00157)	ATGTATTCTTTAAAGGATTCA	0.348000													30	88					0	0	0.007291	0	0
OR1D2	4991	broad.mit.edu	37	17	2996027	2996027	+	Missense_Mutation	SNP	A	A	C	rs137876385		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:2996027A>C	ENST00000331459.1	-	1	263	c.264T>G	c.(262-264)caT>caG	p.H88Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	88					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.H88Q(1)		kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TGGCTTTGTTATGGGACTGGA	0.537000													15	219					0	0	0.007413	0	0
C19orf18	147685	broad.mit.edu	37	19	58477923	58477923	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:58477923C>T	ENST00000314391.3	-	4	447	c.346G>A	c.(346-348)Ggg>Agg	p.G116R		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	116						integral to membrane		p.G116R(1)		large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATTGCCATCCCACATATCAGG	0.333000													3	56					0	0	0.004672	0	0
PBX3	5090	broad.mit.edu	37	9	128697856	128697856	+	Silent	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:128697856G>C	ENST00000373487.4	+	5	893	c.813G>C	c.(811-813)ctG>ctC	p.L271L	PBX3_ENST00000373483.2_Silent_p.L90L|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000447726.2_Silent_p.L196L|PBX3_ENST00000373489.5_Silent_p.L271L|PBX3_ENST00000342287.5_Silent_p.L271L			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	271					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	p.L271L(1)		biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AAGAGGAGCTGGCCAAGAAAT	0.483000													11	24					0	0	0.013537	0	0
NAV3	89795	broad.mit.edu	37	12	78415581	78415581	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:78415581T>A	ENST00000397909.2	+	9	2135	c.1962T>A	c.(1960-1962)agT>agA	p.S654R	NAV3_ENST00000266692.7_Missense_Mutation_p.S654R|NAV3_ENST00000228327.6_Missense_Mutation_p.S654R|NAV3_ENST00000536525.2_Missense_Mutation_p.S654R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	654						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S654R(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						CCTGTACCAGTCCTACAAAGA	0.413000										HNSCC(70;0.22)			4	44					0	0	0.009096	0	0
TDRD5	163589	broad.mit.edu	37	1	179659996	179659996	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:179659996C>T	ENST00000444136.1	+	18	3276	c.3026C>T	c.(3025-3027)gCt>gTt	p.A1009V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A955V|TDRD5_ENST00000367614.1_Missense_Mutation_p.A955V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	955					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.A955V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACAGCCACTGCTGCCTTAGGT	0.512000													4	49					0	0	0.003080	0	0
FAAH2	158584	broad.mit.edu	37	X	57318978	57318978	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:57318978C>T	ENST00000374900.4	+	2	360	c.240C>T	c.(238-240)gaC>gaT	p.D80D		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	80						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	p.D80D(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GAATCAAGGACGTGAACCCAA	0.373000										HNSCC(52;0.14)			9	17					0	0	0.013537	0	0
REV3L	5980	broad.mit.edu	37	6	111697523	111697523	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:111697523T>C	ENST00000435970.1	-	15	2617	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	REV3L_ENST00000368805.1_Missense_Mutation_p.T679A|REV3L_ENST00000368802.3_Missense_Mutation_p.T679A|REV3L_ENST00000358835.3_Missense_Mutation_p.T679A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	679					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.T601A(1)|p.T679A(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTAATGTTTGTATATTTTCTA	0.333000								DNA polymerases (catalytic subunits)					6	53					0	0	0.001984	0	0
DLC1	10395	broad.mit.edu	37	8	13356859	13356859	+	Missense_Mutation	SNP	G	G	T	rs149776829		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:13356859G>T	ENST00000276297.4	-	2	1131	c.722C>A	c.(721-723)cCt>cAt	p.P241H	DLC1_ENST00000511869.1_Missense_Mutation_p.P241H|DLC1_ENST00000316609.5_Missense_Mutation_p.P241H	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	241					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.P241H(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCATCTTTAGGGGGGTCAGG	0.388000													16	167					1.45844e-13	1.9668e-13	0.013726	1	0
ZNF211	10520	broad.mit.edu	37	19	58152630	58152630	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:58152630G>T	ENST00000544273.1	+	5	1139	c.812G>T	c.(811-813)tGc>tTc	p.C271F	ZNF211_ENST00000299871.5_Missense_Mutation_p.C324F|ZNF211_ENST00000240731.4_Missense_Mutation_p.C272F|ZNF211_ENST00000391703.3_Missense_Mutation_p.C198F|ZNF211_ENST00000254182.7_Missense_Mutation_p.C250F|ZNF211_ENST00000541801.1_Missense_Mutation_p.C250F|ZNF211_ENST00000347302.3_Missense_Mutation_p.C259F|ZNF211_ENST00000420680.1_Missense_Mutation_p.C263F			Q13398	ZN211_HUMAN	zinc finger protein 211	259						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C272F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.026)		CTTTTTGAGTGCAGTAAATGT	0.423000													37	170					1.57351e-24	2.29228e-24	0.003755	1	0
HMCN1	83872	broad.mit.edu	37	1	186064444	186064444	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:186064444T>C	ENST00000271588.4	+	68	10593	c.10364T>C	c.(10363-10365)aTg>aCg	p.M3455T	HMCN1_ENST00000367492.2_Missense_Mutation_p.M3455T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3455	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.M3455T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCACCTCTATGGCATGCATT	0.493000													4	60					0	0	0.009096	0	0
AGRN	375790	broad.mit.edu	37	1	981920	981920	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:981920C>T	ENST00000379370.2	+	18	3105	c.3055C>T	c.(3055-3057)Ccg>Tcg	p.P1019S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1019	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.P1019S(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACCACCCCTCCGCCCTCATC	0.736000													6	22					0	0	0.001168	0	0
STK17B	9262	broad.mit.edu	37	2	197028050	197028050	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:197028050G>C	ENST00000263955.4	-	2	344	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	STK17B_ENST00000409228.1_Missense_Mutation_p.Q20E	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	20					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.Q20E(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			ATTGGAATTTGAGGAGTTGTA	0.348000													4	77					0	0	0.001168	0	0
RNF130	55819	broad.mit.edu	37	5	179393914	179393914	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:179393914C>A	ENST00000522208.2	-	7	1060	c.1042G>T	c.(1042-1044)Ggc>Tgc	p.G348C	RNF130_ENST00000261947.4_Missense_Mutation_p.G348C|RNF130_ENST00000521389.1_Missense_Mutation_p.G348C			Q86XS8	GOLI_HUMAN	ring finger protein 130	348					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.G348C(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTTGTCGCCGGCGAGGTCG	0.542000													22	101					1.96895e-08	2.45858e-08	0.002780	1	0
COPA	1314	broad.mit.edu	37	1	160275308	160275308	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:160275308T>C	ENST00000241704.7	-	17	1811	c.1582A>G	c.(1582-1584)Att>Gtt	p.I528V	COPA_ENST00000368069.3_Missense_Mutation_p.I537V	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	528					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.I537V(1)|p.I528V(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGACACGAATGTTCTCATGA	0.438000													11	141					0	0	0.008291	0	0
OR4K1	79544	broad.mit.edu	37	14	20404336	20404336	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:20404336C>T	ENST00000285600.4	+	1	570	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171S(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)		ATTCTGTGGTCCCAATGAGGT	0.478000													23	65					0	0	0.007291	0	0
CD226	10666	broad.mit.edu	37	18	67563198	67563198	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:67563198T>C	ENST00000280200.4	-	4	734	c.466A>G	c.(466-468)Atg>Gtg	p.M156V	CD226_ENST00000581982.1_Start_Codon_SNP_p.M1V|CD226_ENST00000577287.1_Start_Codon_SNP_p.M1V|CD226_ENST00000582621.1_Missense_Mutation_p.M156V	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	156	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.M156V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				GGCCACGTCATCTGAGGCTGA	0.483000													10	54					0	0	0.008291	0	0
TRIML1	339976	broad.mit.edu	37	4	189065212	189065212	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:189065212T>C	ENST00000332517.3	+	5	921	c.781T>C	c.(781-783)Tgt>Cgt	p.C261R	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	261					multicellular organismal development		ligase activity|zinc ion binding	p.C261R(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)		CTTGCTTCAGTGTCCAGAGGC	0.552000													6	27					0	0	0.001984	0	0
SGPL1	8879	broad.mit.edu	37	10	72633154	72633154	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:72633154A>G	ENST00000373202.3	+	12	1306	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	369					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	p.K369R(1)		large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TATAGTGACAAGAAGTACAGG	0.488000													36	125					0	0	0.006999	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412010	43412010	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr21:43412010G>C	ENST00000310826.5	-	3	2378	c.2195C>G	c.(2194-2196)tCt>tGt	p.S732C	ZBTB21_ENST00000398499.1_Missense_Mutation_p.S732C|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.S732C|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.S732C(1)									TAGGAGAGAAGAGAGCTTAGC	0.522000													60	250					0	0	0.014410	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751266	19751266	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:19751266A>T	ENST00000400113.3	-	4	961	c.857T>A	c.(856-858)cTg>cAg	p.L286Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	286					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L286Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGCCACGGACAGCTGCTCGTG	0.602000													11	126					0	0	0.004007	0	0
NAF1	92345	broad.mit.edu	37	4	164085484	164085484	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:164085484G>C	ENST00000274054.2	-	2	618	c.425C>G	c.(424-426)tCt>tGt	p.S142C	NAF1_ENST00000422287.2_Missense_Mutation_p.S142C	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	142	Ser-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	p.S142C(2)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				agaggaagaagacgacgatga	0.348000													6	9					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	216052334	216052334	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:216052334C>G	ENST00000366943.2	-	42	8716	c.8330G>C	c.(8329-8331)aGt>aCt	p.S2777T	USH2A_ENST00000307340.3_Missense_Mutation_p.S2777T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2777	Fibronectin type-III 14.				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.S2777T(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)		AACTTTTTGACTTAACACTGC	0.443000										HNSCC(13;0.011)			8	177					0	0	0.004482	0	0
EYS	346007	broad.mit.edu	37	6	66115212	66115212	+	Nonsense_Mutation	SNP	C	C	T	rs34676630		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:66115212C>T	ENST00000503581.1	-	6	1448	c.911G>A	c.(910-912)tGg>tAg	p.W304*	EYS_ENST00000370616.2_Nonsense_Mutation_p.W304*|EYS_ENST00000370618.3_Nonsense_Mutation_p.W304*|EYS_ENST00000393380.2_Nonsense_Mutation_p.W304*|EYS_ENST00000342421.5_Nonsense_Mutation_p.W304*|EYS_ENST00000370621.3_Nonsense_Mutation_p.W304*	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	304					response to stimulus|visual perception	extracellular region	calcium ion binding	p.W304*(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						TCCTCTTTTCCAAAAAAGCAG	0.373000													12	83					0	0	0.001855	0	0
TAF7L	54457	broad.mit.edu	37	X	100531506	100531506	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:100531506C>T	ENST00000372907.3	-	10	971	c.960G>A	c.(958-960)atG>atA	p.M320I	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.M234I	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	320					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	p.M320I(1)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TCTCCCGAAGCATATCATATT	0.373000													44	104					0	0	0.014410	0	0
ITIH2	3698	broad.mit.edu	37	10	7786869	7786869	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:7786869C>G	ENST00000358415.4	+	19	2690	c.2524C>G	c.(2524-2526)Ctg>Gtg	p.L842V	ITIH2_ENST00000379587.4_Missense_Mutation_p.L831V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	842					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L842V(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TGTTGACTTTCTGGGAATCTA	0.433000													17	117					0	0	0.008871	0	0
AUTS2	26053	broad.mit.edu	37	7	70236556	70236556	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:70236556G>T	ENST00000342771.4	+	11	2077	c.1756G>T	c.(1756-1758)Gca>Tca	p.A586S	AUTS2_ENST00000406775.2_Missense_Mutation_p.A586S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	586								p.A586S(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTATCCTCCTGCAGTGTCGGG	0.488000													15	98					5.35267e-07	6.37995e-07	0.007413	1	0
ADPRM	56985	broad.mit.edu	37	17	10608747	10608747	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:10608747G>C	ENST00000379774.4	+	2	595	c.504G>C	c.(502-504)ttG>ttC	p.L168F	ADPRM_ENST00000527582.2_Missense_Mutation_p.L168F	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent									p.L168F(1)									CATATGACTTGAGTGTCTTGG	0.403000													10	133					0	0	0.010729	0	0
REG1B	5968	broad.mit.edu	37	2	79313951	79313951	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:79313951C>A	ENST00000305089.3	-	3	250	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	57	C-type lectin.				cell proliferation	extracellular region	sugar binding	p.W57L(2)		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						TGCATCAACCCAGGTCTCAGG	0.527000													19	213					2.27731e-05	2.59635e-05	0.012319	1	0
ATXN7	6314	broad.mit.edu	37	3	63981400	63981400	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:63981400G>A	ENST00000398590.3	+	12	2455	c.1902G>A	c.(1900-1902)gcG>gcA	p.A634A	ATXN7_ENST00000487717.1_Silent_p.A634A|ATXN7_ENST00000484332.1_Silent_p.A489A|ATXN7_ENST00000295900.6_Silent_p.A634A|ATXN7_ENST00000538065.1_Silent_p.A634A	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	634					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.A634A(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CTTCAGGGGCGATGGATCCTG	0.547000													71	131					0	0	0.014410	0	0
MMS22L	253714	broad.mit.edu	37	6	97677084	97677084	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:97677084C>A	ENST00000275053.4	-	14	1990	c.1725G>T	c.(1723-1725)atG>atT	p.M575I	MMS22L_ENST00000369251.2_Missense_Mutation_p.M535I	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	575					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	p.M575I(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AGAGGAAGGCCATGTGACCCT	0.443000													5	64					0.00307968	0.00328128	0.003080	1	0
ACACA	31	broad.mit.edu	37	17	35766360	35766360	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:35766360C>G	ENST00000353139.5	-	1	511	c.30G>C	c.(28-30)ttG>ttC	p.L10F	ACACA_ENST00000589665.1_5'UTR|ACACA_ENST00000416895.1_5'UTR	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	0					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L10F(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	acctagccctcaagattgaca	0.433000													39	324					0	0	0.013114	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762792	176762792	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:176762792C>A	ENST00000367662.3	+	20	6281	c.5117C>A	c.(5116-5118)cCt>cAt	p.P1706H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1706	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P1706H(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGATGGAACCTGTCAAAGTC	0.488000													8	105					2.74318e-10	3.55709e-10	0.006214	1	0
DDR2	4921	broad.mit.edu	37	1	162745571	162745571	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:162745571C>A	ENST00000367922.2	+	16	2424	c.1986C>A	c.(1984-1986)ctC>ctA	p.L662L	DDR2_ENST00000367921.3_Silent_p.L662L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	662	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L662L(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATGGAGATCTCAATCAGTTTC	0.488000													6	180					1.06961e-07	1.30454e-07	0.003080	1	0
ZP4	57829	broad.mit.edu	37	1	238048467	238048467	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:238048467G>T	ENST00000366570.4	-	9	1467	c.1309C>A	c.(1309-1311)Ccg>Acg	p.P437T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	437	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.P437T(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CATCCTACCGGTCCCCTGAGG	0.527000													12	83					0.00136819	0.00147777	0.013537	1	0
MAP3K5	4217	broad.mit.edu	37	6	136904872	136904872	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:136904872C>T	ENST00000359015.4	-	24	3592	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.E325K	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1078					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.E1078K(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTCGGTTCTTCAGCCCCCTGT	0.438000													14	145					0	0	0.004007	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541656	96541656	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:96541656G>A	ENST00000371321.3	+	5	803	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	241					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.E241K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGCTTTTATGGAAAGTGATAT	0.333000													8	66					0	0	0.003080	0	0
TAF6	6878	broad.mit.edu	37	7	99705159	99705159	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:99705159C>T	ENST00000344095.4	-	15	2269	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I	AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.V582I|TAF6_ENST00000472509.1_Missense_Mutation_p.V639I|TAF6_ENST00000452041.1_Missense_Mutation_p.V582I|TAF6_ENST00000437822.2_Missense_Mutation_p.V619I|TAF6_ENST00000418432.2_Missense_Mutation_p.V506I	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	582					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.V582I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCAACTTGACGATGGGCTGC	0.647000													14	208					0	0	0.002450	0	0
HEATR4	399671	broad.mit.edu	37	14	73945385	73945385	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:73945385C>T	ENST00000553558.1	-	18	3328	c.3007G>A	c.(3007-3009)Ggt>Agt	p.G1003S	HEATR4_ENST00000560393.1_Missense_Mutation_p.G956S|HEATR4_ENST00000566478.1_5'UTR|HEATR4_ENST00000334988.2_Missense_Mutation_p.G1003S	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4									p.G1003S(1)|p.G956S(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAATTTACCCAGATAAAGA	0.433000													48	101					0	0	0.014410	0	0
ACPP	55	broad.mit.edu	37	3	132056351	132056351	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:132056351G>C	ENST00000336375.5	+	5	598	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	ACPP_ENST00000475741.1_Intron|ACPP_ENST00000351273.7_Missense_Mutation_p.E170Q	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	170						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.E170Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ACTTGAGAGTGAGACTTTGAA	0.373000													16	80					0	0	0.008871	0	0
C2orf71	388939	broad.mit.edu	37	2	29295088	29295088	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:29295088C>T	ENST00000331664.5	-	1	2039	c.2040G>A	c.(2038-2040)caG>caA	p.Q680Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	680					response to stimulus|visual perception	photoreceptor outer segment		p.Q680Q(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCTCTTGTCCTGACTAGGCA	0.547000													72	123					0	0	0.014410	0	0
SPRY3	10251	broad.mit.edu	37	X	155004005	155004005	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:155004005T>A	ENST00000302805.2	+	2	903	c.472T>A	c.(472-474)Tgc>Agc	p.C158S		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	158	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.C158S(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGCGTCCCCTGCACAGCAGC	0.597000													34	214					0	0	0.004878	0	0
KRT77	374454	broad.mit.edu	37	12	53090181	53090181	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:53090181G>A	ENST00000341809.3	-	3	820	c.792C>T	c.(790-792)agC>agT	p.S264S	KRT77_ENST00000537195.1_Silent_p.S31S|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	264	Coil 1B.|Rod.					keratin filament	structural molecule activity	p.S264S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGTCATTCTCGCTGCCAGTCC	0.567000													7	101					0	0	0.001984	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751284	19751284	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:19751284T>A	ENST00000400113.3	-	4	943	c.839A>T	c.(838-840)aAg>aTg	p.K280M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	280					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.K280M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GTGGTAGGCCTTCTCGGCTGA	0.602000													27	111					0	0	0.005524	0	0
STK39	27347	broad.mit.edu	37	2	169020319	169020319	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:169020319T>C	ENST00000355999.4	-	4	1207	c.502A>G	c.(502-504)Ata>Gta	p.I168V		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	168	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity	p.I168V(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						GTTGCTATTATTGCCTCTTCC	0.363000													11	78					0	0	0.010729	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190059	233190059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:233190059C>A	ENST00000258229.8	-	25	4540	c.4306G>T	c.(4306-4308)Gga>Tga	p.G1436*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.G88*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1436						integral to membrane		p.G1436*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGACCATTTCCAATTTCAATC	0.408000													11	33					3.07112e-06	3.57036e-06	0.010729	1	0
LYN	4067	broad.mit.edu	37	8	56879313	56879313	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:56879313T>C	ENST00000520220.2	+	9	1041	c.767T>C	c.(766-768)cTg>cCg	p.L256P	LYN_ENST00000420292.1_3'UTR|LYN_ENST00000519728.1_Missense_Mutation_p.L277P	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	277	Protein kinase.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	p.L277P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GTGAAAACCCTGAAGCCAGGA	0.498000													13	64					0	0	0.006122	0	0
FRAS1	80144	broad.mit.edu	37	4	79455668	79455668	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:79455668C>T	ENST00000264895.6	+	71	11431	c.10991C>T	c.(10990-10992)aCt>aTt	p.T3664I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3659					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T3665I(1)|p.T3664I(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACTTAACACTGAATTTCAG	0.413000													13	124					0	0	0.004990	0	0
KNDC1	85442	broad.mit.edu	37	10	135020282	135020282	+	Splice_Site	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:135020282G>T	ENST00000304613.3	+	18	3502	c.3481_splice	c.e18+1	p.G1161_splice	KNDC1_ENST00000368571.2_Splice_Site_p.G1096_splice|KNDC1_ENST00000368572.2_Splice_Site_p.G1163_splice			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1161					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.G1161C(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGGAACAAAGGTAAGGCCCC	0.572000													12	140					7.03913e-09	8.85991e-09	0.013537	1	0
FAM183B	340286	broad.mit.edu	37	7	38725603	38725603	+	Translation_Start_Site	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:38725603C>T	ENST00000409072.3	-	2	937	c.3G>A	c.(1-3)atG>atA	p.M1I						family with sequence similarity 183, member B									p.M1I(2)		endometrium(1)|lung(7)	8						GGTGTCCCGCCATAGCCTTGG	0.597000													8	48					0	0	0.004482	0	0
RBM18	92400	broad.mit.edu	37	9	125004274	125004274	+	Silent	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:125004274C>G	ENST00000417201.3	-	6	602	c.462G>C	c.(460-462)gcG>gcC	p.A154A	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	154							nucleotide binding|RNA binding	p.A154A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						CAGGATTTTCCGCCATCATTT	0.393000													14	37					0	0	0.002450	0	0
YEATS2	55689	broad.mit.edu	37	3	183493769	183493769	+	Missense_Mutation	SNP	G	G	C	rs79893976		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:183493769G>C	ENST00000305135.5	+	18	2630	c.2435G>C	c.(2434-2436)gGa>gCa	p.G812A		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	812	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G812A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ggaggaggaggaggcggcagt	0.577000													20	100					0	0	0.007413	0	0
SLC13A3	64849	broad.mit.edu	37	20	45242166	45242166	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:45242166C>T	ENST00000279027.4	-	2	328	c.310G>A	c.(310-312)Gag>Aag	p.E104K	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Missense_Mutation_p.E57K|SLC13A3_ENST00000290317.5_Missense_Mutation_p.E57K|SLC13A3_ENST00000495082.1_Missense_Mutation_p.E57K|SLC13A3_ENST00000396360.1_Missense_Mutation_p.E57K|SLC13A3_ENST00000372121.1_Missense_Mutation_p.E104K|SLC13A3_ENST00000413164.2_Missense_Mutation_p.E104K|SLC13A3_ENST00000339636.3_Missense_Mutation_p.E104K|SLC13A3_ENST00000417157.2_Missense_Mutation_p.E57K	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	104						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	p.E104K(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TTCCACTCCTCAATGGCGCTG	0.582000													5	47					0	0	0.000602	0	0
WDR59	79726	broad.mit.edu	37	16	74951893	74951893	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:74951893A>G	ENST00000262144.6	-	11	1030	c.900T>C	c.(898-900)taT>taC	p.Y300Y		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	300								p.Y300Y(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TCACCAGTTGATAGTCCTTGG	0.458000													3	102					0	0	0.004672	0	0
LATS1	9113	broad.mit.edu	37	6	149982925	149982925	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:149982925C>A	ENST00000543571.1	-	8	3880	c.3333G>T	c.(3331-3333)tcG>tcT	p.S1111S	LATS1_ENST00000253339.5_Silent_p.S1111S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	1111					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.S1111S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CATCTTCATCCGACTGCTGCT	0.358000													5	113					3.59834e-05	4.06319e-05	0.001168	1	0
FRYL	285527	broad.mit.edu	37	4	48566058	48566058	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:48566058T>A	ENST00000358350.4	-	31	4107	c.3503A>T	c.(3502-3504)aAc>aTc	p.N1168I	FRYL_ENST00000507711.1_Missense_Mutation_p.N1168I|FRYL_ENST00000537810.1_Missense_Mutation_p.N1168I|FRYL_ENST00000503238.1_Missense_Mutation_p.N1168I|FRYL_ENST00000264319.7_5'UTR	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1168					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.N1168I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTACATCAGGTTGCTCTGATC	0.527000													14	95					0	0	0.003163	0	0
PRKG1	5592	broad.mit.edu	37	10	53227490	53227490	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:53227490G>T	ENST00000373980.4	+	3	903	c.486G>T	c.(484-486)aaG>aaT	p.K162N	PRKG1_ENST00000373985.1_Missense_Mutation_p.K135N|PRKG1_ENST00000401604.2_Missense_Mutation_p.K147N	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	147					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.K147_V148>NF(1)|p.K162_V163>NF(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)		TAGATGGTAAGGTTGAAGTTA	0.388000													4	23					0.000602214	0.000656455	0.000602	1	0
GRID1	2894	broad.mit.edu	37	10	87898668	87898668	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:87898668T>A	ENST00000327946.7	-	4	719	c.634A>T	c.(634-636)Atg>Ttg	p.M212L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	212						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.M212L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCTGTCTTCATCGTGGTGAAG	0.567000										Multiple Myeloma(13;0.14)			53	209					0	0	0.014410	0	0
ARRDC3	57561	broad.mit.edu	37	5	90669504	90669504	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:90669504T>C	ENST00000265138.3	-	7	1451	c.1185A>G	c.(1183-1185)tcA>tcG	p.S395S		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	395					signal transduction	cytoplasm	protein binding	p.S395S(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		TACTTACCTCTGAATAAAGAG	0.393000													3	71					0	0	0.004672	0	0
SEL1L3	23231	broad.mit.edu	37	4	25831720	25831720	+	Splice_Site	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:25831720C>G	ENST00000399878.3	-	6	1279	c.1157_splice	c.e6+1	p.S386_splice	SEL1L3_ENST00000264868.5_Splice_Site_p.S351_splice|SEL1L3_ENST00000502949.1_Splice_Site_p.S233_splice	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	386						integral to membrane	binding	p.S386T(1)|p.S233T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCGCACTTACCTAATGGTCTG	0.388000													4	25					0	0	0.000602	0	0
CELF4	56853	broad.mit.edu	37	18	35145565	35145565	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:35145565C>A	ENST00000420428.2	-	1	435	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CELF4_ENST00000412753.1_Missense_Mutation_p.D14Y|CELF4_ENST00000588597.1_Missense_Mutation_p.D14Y|CELF4_ENST00000591282.1_Missense_Mutation_p.D14Y|CELF4_ENST00000334919.5_Missense_Mutation_p.D14Y|CELF4_ENST00000361795.5_Missense_Mutation_p.D14Y|CELF4_ENST00000591287.1_Missense_Mutation_p.D14Y|CELF4_ENST00000601019.1_Missense_Mutation_p.D14Y|CELF4_ENST00000603232.1_Missense_Mutation_p.D14Y	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	14	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.D14Y(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CTTGCGTTGTCAGCCTGTCCG	0.547000													5	43					0.00307968	0.00328128	0.003080	1	0
FMN2	56776	broad.mit.edu	37	1	240492752	240492752	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:240492752T>A	ENST00000319653.9	+	10	4651	c.4421T>A	c.(4420-4422)cTa>cAa	p.L1474Q	FMN2_ENST00000545751.1_Missense_Mutation_p.L70Q	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1474	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.L1617Q(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)			CTGGAATTACTACAGAAATTG	0.403000													16	151					0	0	0.006122	0	0
KRT6C	286887	broad.mit.edu	37	12	52863627	52863627	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:52863627C>A	ENST00000252250.6	-	7	1298	c.1251G>T	c.(1249-1251)gaG>gaT	p.E417D		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	417	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.E417D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGAGTGCCATCTCCCCACGCT	0.602000													22	56					1.17739e-12	1.56986e-12	0.005443	1	0
C6orf57	135154	broad.mit.edu	37	6	71298356	71298356	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:71298356G>T	ENST00000370474.3	+	3	280	c.256G>T	c.(256-258)Ggt>Tgt	p.G86C		NM_145267.2	NP_660310.2	Q5VUM1	CF057_HUMAN	chromosome 6 open reading frame 57	86						extracellular region		p.G86F(1)		kidney(1)|lung(1)|skin(1)	3						CAAAGAAAAAGGTGGACCCAG	0.388000													8	54					1.58986e-06	1.85746e-06	0.008291	1	0
B3GAT1	27087	broad.mit.edu	37	11	134252846	134252846	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:134252846G>T	ENST00000524765.1	-	4	5220	c.676C>A	c.(676-678)Cgg>Agg	p.R226R	B3GAT1_ENST00000392580.1_Silent_p.R226R|B3GAT1_ENST00000312527.4_Silent_p.R226R|B3GAT1_ENST00000537389.1_Silent_p.R239R			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	226					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.R226R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCCTCGTACCGCAGGCCACCC	0.657000													4	9					0.00909568	0.00954036	0.009096	1	0
PML	5371	broad.mit.edu	37	15	74337110	74337110	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:74337110A>G	ENST00000565898.1	+	8	2350	c.2266A>G	c.(2266-2268)Agc>Ggc	p.S756G	PML_ENST00000268058.3_Missense_Mutation_p.S804G			P29590	PML_HUMAN	promyelocytic leukemia	804					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.S804G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						ACACAACGTGAGCTTCATGGA	0.662000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	56					0	0	0.001984	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555401	155555401	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:155555401G>T	ENST00000295101.2	+	1	591	c.114G>T	c.(112-114)gtG>gtT	p.V38V	KCNJ3_ENST00000544049.1_Silent_p.V38V	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	38					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.V38V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AGCAGCTTGTGCCCAAGAAGA	0.617000													11	66					6.72482e-11	8.81699e-11	0.003163	1	0
PDE4D	5144	broad.mit.edu	37	5	59064319	59064319	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:59064319C>A	ENST00000507116.1	-	1	152	c.17G>T	c.(16-18)aGc>aTc	p.S6I	PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.S6I|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000340635.6_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.S6I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGTGTCCGGGCTTGTCTGCTG	0.522000													27	175					3.86903e-22	5.56763e-22	0.013726	1	0
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547000													5	176					0	0	0.001168	0	0
ZNF808	388558	broad.mit.edu	37	19	53057748	53057748	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:53057748G>T	ENST00000359798.4	+	5	1759	c.1579G>T	c.(1579-1581)Gta>Tta	p.V527L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V527L(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GGCATCCCTTGTATACCATCG	0.433000													50	175					4.10826e-27	6.02205e-27	0.014410	1	0
PKM	5315	broad.mit.edu	37	15	72499545	72499545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:72499545C>A	ENST00000319622.6	-	7	1366	c.910G>T	c.(910-912)Gag>Tag	p.E304*	PKM_ENST00000565154.1_Nonsense_Mutation_p.E304*|PKM_ENST00000335181.5_Nonsense_Mutation_p.E304*|PKM_ENST00000568459.1_Nonsense_Mutation_p.E304*|PKM_ENST00000565184.1_Nonsense_Mutation_p.E304*|PKM_ENST00000389093.3_Nonsense_Mutation_p.E304*|PKM_ENST00000449901.2_Nonsense_Mutation_p.E289*|PKM_ENST00000568883.1_Nonsense_Mutation_p.E139*	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle									p.E304*(2)		endometrium(1)|lung(7)	8						AAGACCTTCTCTGCAGGAATC	0.537000													6	55					0.00116845	0.00126492	0.001168	1	0
CDK12	51755	broad.mit.edu	37	17	37646908	37646908	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:37646908G>A	ENST00000447079.4	+	3	2063	c.2030G>A	c.(2029-2031)gGt>gAt	p.G677D	CDK12_ENST00000430627.2_Missense_Mutation_p.G677D	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	677					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.G677Y(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAGCTCCCTGGTGGAGATCTG	0.473000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			17	38					0	0	0.007413	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119013825	119013825	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:119013825A>G	ENST00000264245.4	+	1	606	c.74A>G	c.(73-75)gAg>gGg	p.E25G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	25	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	p.E25G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACCTGACGGAGTATCTGGAA	0.557000													12	71					0	0	0.004007	0	0
ZNF648	127665	broad.mit.edu	37	1	182026889	182026889	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:182026889C>A	ENST00000339948.3	-	2	464	c.257G>T	c.(256-258)aGt>aTt	p.S86I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S86I(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCCCCAGCACTGGAGGAGTC	0.562000													24	126					9.57634e-11	1.25209e-10	0.003330	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90572233	90572233	+	RNA	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:90572233G>T	ENST00000551025.1	+	0	2242							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.G269F(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)		CTTAAGTACTGGCTGTGGTGA	0.413000													17	172					7.07596e-05	7.89563e-05	0.006122	1	0
OR51B5	282763	broad.mit.edu	37	11	5363926	5363926	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:5363926C>G	ENST00000300773.2	-	1	883	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A277P(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAAATAGGCATAGCTCATA	0.388000													4	95					0	0	0.009096	0	0
TDRD6	221400	broad.mit.edu	37	6	46661230	46661230	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:46661230G>A	ENST00000544460.1	+	1	5619	c.5365G>A	c.(5365-5367)Gat>Aat	p.D1789N	TDRD6_ENST00000316081.6_Missense_Mutation_p.D1789N	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1789					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	p.D1789N(1)		NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGATAAAATTGATACTGAGGA	0.363000													17	150					0	0	0.004990	0	0
MACF1	23499	broad.mit.edu	37	1	39798844	39798844	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:39798844A>T	ENST00000564288.1	+	37	7361	c.6584A>T	c.(6583-6585)cAa>cTa	p.Q2195L	MACF1_ENST00000372915.3_Missense_Mutation_p.Q2200L|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.Q635L|MACF1_ENST00000567887.1_Missense_Mutation_p.Q2232L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2200					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.Q635L(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAAAACCCCAAAGCAAAAAG	0.363000													11	103					0	0	0.001855	0	0
DPRX	503834	broad.mit.edu	37	19	54139992	54139992	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:54139992G>T	ENST00000376650.1	+	3	377	c.326G>T	c.(325-327)aGa>aTa	p.R109I		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	109						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R109I(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		ACACTACCCAGATTGCCCAAC	0.542000													24	110					7.76418e-22	1.11389e-21	0.005443	1	0
OCRL	4952	broad.mit.edu	37	X	128694569	128694569	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:128694569T>A	ENST00000371113.4	+	9	930	c.765T>A	c.(763-765)gaT>gaA	p.D255E	OCRL_ENST00000357121.5_Missense_Mutation_p.D255E	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	255					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.D255E(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGTCTCCAGATAGCGGGTTAG	0.368000													16	49					0	0	0.007413	0	0
PCNXL3	399909	broad.mit.edu	37	11	65385575	65385575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:65385575G>T	ENST00000355703.3	+	6	1281	c.742G>T	c.(742-744)Gag>Tag	p.E248*		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	248						integral to membrane		p.E129*(2)|p.E248*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCTCAGCCAGGAGCTGAGCAA	0.657000													3	15					0.00024832	0.00027449	0.009096	1	0
TGM4	7047	broad.mit.edu	37	3	44951740	44951740	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:44951740A>T	ENST00000296125.4	+	11	1554	c.1486A>T	c.(1486-1488)Agg>Tgg	p.R496W		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	496					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R496W(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCTTAAAAGGAAGACCGC	0.443000													15	137					0	0	0.003163	0	0
SOX5	6660	broad.mit.edu	37	12	23893823	23893823	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:23893823A>G	ENST00000546136.1	-	4	682	c.680T>C	c.(679-681)cTg>cCg	p.L227P	SOX5_ENST00000545921.1_Missense_Mutation_p.L230P|SOX5_ENST00000541847.1_Missense_Mutation_p.L230P|SOX5_ENST00000451604.2_Missense_Mutation_p.L240P|SOX5_ENST00000537393.1_Missense_Mutation_p.L205P|SOX5_ENST00000381381.2_Missense_Mutation_p.L227P|SOX5_ENST00000309359.1_Missense_Mutation_p.L227P|SOX5_ENST00000541536.1_Missense_Mutation_p.L227P			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	240					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L240P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGCTTGGCCAGCTCCATTTG	0.502000													13	89					0	0	0.004007	0	0
AJAP1	55966	broad.mit.edu	37	1	4832529	4832529	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:4832529C>A	ENST00000378191.4	+	4	1488	c.1107C>A	c.(1105-1107)acC>acA	p.T369T	AJAP1_ENST00000378190.3_Silent_p.T369T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	369	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T369T(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCGTGTACACCGATGAGACGC	0.587000													6	46					0.00307968	0.00328128	0.003080	1	0
MMP3	4314	broad.mit.edu	37	11	102709892	102709892	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:102709892C>T	ENST00000299855.5	-	7	1274	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	340	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.V340M(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GCGGCATCCACGCCTGAAGGA	0.378000													7	104					0	0	0.004482	0	0
IGSF10	285313	broad.mit.edu	37	3	151166370	151166370	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:151166370G>T	ENST00000282466.3	-	4	1398	c.1399C>A	c.(1399-1401)Cca>Aca	p.P467T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	467	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.P467T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTTCACTGGCCTCATCTCT	0.453000													33	198					2.08457e-15	2.86856e-15	0.010818	1	0
ZNF211	10520	broad.mit.edu	37	19	58152631	58152631	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:58152631C>T	ENST00000544273.1	+	5	1140	c.813C>T	c.(811-813)tgC>tgT	p.C271C	ZNF211_ENST00000299871.5_Silent_p.C324C|ZNF211_ENST00000240731.4_Silent_p.C272C|ZNF211_ENST00000391703.3_Silent_p.C198C|ZNF211_ENST00000254182.7_Silent_p.C250C|ZNF211_ENST00000541801.1_Silent_p.C250C|ZNF211_ENST00000347302.3_Silent_p.C259C|ZNF211_ENST00000420680.1_Silent_p.C263C			Q13398	ZN211_HUMAN	zinc finger protein 211	259						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C272F(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.026)		TTTTTGAGTGCAGTAAATGTG	0.423000													37	173					0	0	0.003755	0	0
GSG1L	146395	broad.mit.edu	37	16	27802749	27802749	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:27802749G>C	ENST00000380898.2	-	8	1076	c.527C>G	c.(526-528)tCc>tGc	p.S176C	GSG1L_ENST00000447459.2_Missense_Mutation_p.S313C|GSG1L_ENST00000569166.1_Missense_Mutation_p.S176C|GSG1L_ENST00000395724.3_Missense_Mutation_p.S262C|GSG1L_ENST00000380897.3_Missense_Mutation_p.S158C			Q6UXU4	GSG1L_HUMAN	GSG1-like	313						integral to membrane		p.S313C(1)|p.S158C(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TTCCTGTGCGGAGCTCCGGGG	0.637000													17	28					0	0	0.010504	0	0
TNFAIP6	7130	broad.mit.edu	37	2	152226549	152226549	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:152226549G>T	ENST00000243347.3	+	4	485	c.410G>T	c.(409-411)gGc>gTc	p.G137V		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	137	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	p.G137V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		GAGTGTGGTGGCGTCTTTACA	0.368000													38	154					2.59497e-14	3.51961e-14	0.007835	1	0
KNDC1	85442	broad.mit.edu	37	10	135020832	135020832	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:135020832G>A	ENST00000304613.3	+	20	3792	c.3771G>A	c.(3769-3771)ggG>ggA	p.G1257G	KNDC1_ENST00000368572.2_Silent_p.G1259G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1257	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.G1257G(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGCCGCTGGGGCTCATGGCCT	0.662000													14	39					0	0	0.010504	0	0
NPAT	4863	broad.mit.edu	37	11	108057298	108057298	+	Splice_Site	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:108057298T>A	ENST00000278612.8	-	8	744		c.e8-2			NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus						positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.?(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGAGATTCACTGAAACACATT	0.313000													4	57					0	0	0.009096	0	0
MAP3K5	4217	broad.mit.edu	37	6	137018361	137018361	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:137018361A>G	ENST00000359015.4	-	5	1331	c.971T>C	c.(970-972)aTc>aCc	p.I324T		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	324					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.I324T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTCACCTGGATATCTCTGTA	0.393000													6	81					0	0	0.001168	0	0
PCED1A	64773	broad.mit.edu	37	20	2819264	2819264	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:2819264G>A	ENST00000360652.2	-	5	1074	c.572C>T	c.(571-573)aCt>aTt	p.T191I	PCED1A_ENST00000356872.3_Missense_Mutation_p.T140I	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A									p.T191I(1)									GAAACCCCCAGTGATACGTTC	0.582000													17	114					0	0	0.004007	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													6	299					1.06961e-07	1.30454e-07	0.003080	1	0
ANK3	288	broad.mit.edu	37	10	61832818	61832818	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:61832818C>A	ENST00000280772.1	-	37	8012	c.7821G>T	c.(7819-7821)caG>caT	p.Q2607H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2607					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.Q2607H(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCTGGGGACTGCAGTTCAT	0.448000													8	173					0.00829132	0.00877467	0.008291	1	0
ATP9A	10079	broad.mit.edu	37	20	50235517	50235517	+	Silent	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:50235517C>G	ENST00000338821.5	-	20	2445	c.2181G>C	c.(2179-2181)ctG>ctC	p.L727L	ATP9A_ENST00000311637.5_Silent_p.L591L|ATP9A_ENST00000402822.1_Silent_p.L606L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	727					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.L727L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCGAGATGACCAGGGCACAAT	0.642000													12	80					0	0	0.002450	0	0
IFI27L1	122509	broad.mit.edu	37	14	94568260	94568260	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:94568260A>G	ENST00000553664.1	+	5	354	c.229A>G	c.(229-231)Agc>Ggc	p.S77G	IFI27L1_ENST00000555523.1_Silent_p.A54A|IFI27L1_ENST00000554562.1_Silent_p.A54A|IFI27L1_ENST00000554544.1_Intron|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000393115.3_Silent_p.A54A|IFI27L1_ENST00000557066.1_Intron|IFI27L1_ENST00000556381.1_Silent_p.A53A|IFI27L1_ENST00000557218.1_Intron			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane		p.A54A(1)		lung(2)	2						TGTCTACAGCAGCCATTGCCA	0.582000													3	53					0	0	0.003080	0	0
GPN1	11321	broad.mit.edu	37	2	27855515	27855515	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:27855515G>A	ENST00000264718.3	+	5	391	c.370G>A	c.(370-372)Gag>Aag	p.E124K	GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000424214.1_Missense_Mutation_p.E31K|GPN1_ENST00000407583.3_Missense_Mutation_p.E98K|ZNF512_ENST00000556601.1_3'UTR|GPN1_ENST00000458167.2_Missense_Mutation_p.E15K|GPN1_ENST00000515877.1_Missense_Mutation_p.E31K|RP11-158I13.2_ENST00000505973.1_RNA|GPN1_ENST00000503738.1_Missense_Mutation_p.E15K	NM_007266.3	NP_009197.2	Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	110						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding	p.E110K(2)		endometrium(1)|large_intestine(1)|lung(12)	14						GAAATTTATTGAGAAGGCCCA	0.413000													14	187					0	0	0.004007	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558626	113558626	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:113558626G>T	ENST00000284601.3	-	1	494	c.426C>A	c.(424-426)atC>atA	p.I142I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	142	CBM21.				glycogen metabolic process	integral to membrane		p.I142I(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATACCCTTGATACTTGTAG	0.348000													7	53					1.12685e-05	1.29096e-05	0.004482	1	0
TWISTNB	221830	broad.mit.edu	37	7	19738178	19738178	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:19738178C>A	ENST00000222567.5	-	4	848	c.778G>T	c.(778-780)Gcc>Tcc	p.A260S		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	260	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.A260S(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						TTCTGCAGGGCTGACTCTTCC	0.443000													69	321					5.96624e-29	8.77279e-29	0.014410	1	0
CASP8AP2	9994	broad.mit.edu	37	6	90572234	90572234	+	RNA	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:90572234G>T	ENST00000551025.1	+	0	2243							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.G269F(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)		TTAAGTACTGGCTGTGGTGAT	0.408000													18	172					8.00594e-06	9.26177e-06	0.007413	1	0
SRM	6723	broad.mit.edu	37	1	11116146	11116146	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:11116146C>T	ENST00000376957.2	-	5	621	c.541G>A	c.(541-543)Gcc>Acc	p.A181T		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	181					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	p.A181T(1)		large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	AGACTTTCGGCGGGGCCTGGG	0.597000													8	31					0	0	0.004482	0	0
PITPNM1	9600	broad.mit.edu	37	11	67259578	67259578	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:67259578G>C	ENST00000356404.3	-	24	3886	c.3661C>G	c.(3661-3663)Ccg>Gcg	p.P1221A	PITPNM1_ENST00000436757.2_Missense_Mutation_p.P1220A|PITPNM1_ENST00000534749.1_Missense_Mutation_p.P1221A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1221					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.P1221A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGTGTTCCCGGGCCCTCACGC	0.677000													14	69					0	0	0.004990	0	0
USP38	84640	broad.mit.edu	37	4	144116948	144116948	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:144116948G>T	ENST00000307017.4	+	3	1404	c.898G>T	c.(898-900)Gtc>Ttc	p.V300F	USP38_ENST00000510377.1_Missense_Mutation_p.V300F	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	300					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.V300F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ACTGGCAGCTGTCCAGAAGTT	0.373000													14	63					3.27435e-08	4.05642e-08	0.002450	1	0
KSR2	283455	broad.mit.edu	37	12	117962721	117962721	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:117962721G>T	ENST00000425217.1	-	14	2122	c.2068C>A	c.(2068-2070)Cat>Aat	p.H690N	KSR2_ENST00000302438.5_Missense_Mutation_p.H416N|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.H719N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	719	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.H751N(1)|p.H416N(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACGTTCTCATGCCGTGTCTGC	0.597000													7	57					0.000157383	0.000174788	0.003080	1	0
ZNF181	339318	broad.mit.edu	37	19	35231797	35231797	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:35231797T>C	ENST00000392232.3	+	6	811	c.643T>C	c.(643-645)Tct>Cct	p.S215P	ZNF181_ENST00000459757.1_Missense_Mutation_p.S170P|ZNF181_ENST00000492450.1_Missense_Mutation_p.S171P			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S107P(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCTACTCTTTCTGAACCACA	0.328000													82	59					0	0	0.014410	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279668	47279668	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:47279668C>A	ENST00000271153.4	+	6	741	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CYP4B1_ENST00000371923.4_Missense_Mutation_p.F236L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.F73L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.F221L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	235					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F235L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ATAATGACTTCATCTACTGGC	0.577000													25	144					1.08312e-15	1.50806e-15	0.009535	1	0
KIDINS220	57498	broad.mit.edu	37	2	8888086	8888086	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:8888086G>T	ENST00000256707.3	-	25	3640	c.3459C>A	c.(3457-3459)ggC>ggA	p.G1153G	KIDINS220_ENST00000427284.1_Silent_p.G1153G|KIDINS220_ENST00000418530.1_Intron|KIDINS220_ENST00000473731.1_Silent_p.G1153G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1153					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		p.G1153G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTGGGAGCCGCCAGGGTAAT	0.398000													26	87					6.04164e-23	8.72066e-23	0.010818	1	0
LOC645166	645166	broad.mit.edu	37	1	148932828	148932828	+	RNA	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:148932828G>T	ENST00000539543.1	+	0	84					NR_027355.1																						GGCCTCCATAGAGCTGCCCAG	0.592000													8	299					1.08611e-07	1.32124e-07	0.010729	1	0
HRNR	388697	broad.mit.edu	37	1	152191909	152191909	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:152191909C>T	ENST00000368801.2	-	3	2271	c.2196G>A	c.(2194-2196)agG>agA	p.R732R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	732					keratinization		calcium ion binding|protein binding	p.R732R(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)			ACTGTCCTGACCTAGAGCCGT	0.552000													25	278					0	0	0.005443	0	0
MS4A4A	51338	broad.mit.edu	37	11	60070118	60070118	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:60070118T>C	ENST00000355131.3	+	6	640	c.417T>C	c.(415-417)taT>taC	p.Y139Y	MS4A4A_ENST00000395016.3_Silent_p.Y139Y|MS4A4A_ENST00000532114.1_Intron|MS4A4A_ENST00000337908.4_Silent_p.Y158Y	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	158						integral to membrane	receptor activity	p.Y158Y(1)|p.Y139Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TGGCGTTTTATTCATTCCATC	0.413000													6	96					0	0	0.001168	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925348	4925348	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrY:4925348G>T	ENST00000333703.4	+	4	964	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	PCDH11Y_ENST00000362095.5_Nonsense_Mutation_p.E162*|PCDH11Y_ENST00000215473.6_Nonsense_Mutation_p.E162*	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	162	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E162*(2)|p.E151*(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTTTCTGATAGAAGATATAAA	0.393000													10	25					4.3838e-07	5.23836e-07	0.001855	1	0
STAM	8027	broad.mit.edu	37	10	17737234	17737234	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:17737234A>G	ENST00000377524.3	+	7	937	c.722A>G	c.(721-723)gAt>gGt	p.D241G	STAM_ENST00000540523.1_Missense_Mutation_p.D130G	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	241	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.D241G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						ACAGTTCTTGATGACAGGTAA	0.323000													8	53					0	0	0.003080	0	0
DMKN	93099	broad.mit.edu	37	19	36003604	36003604	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:36003604C>A	ENST00000339686.3	-	2	691	c.515G>T	c.(514-516)tGg>tTg	p.W172L	DMKN_ENST00000418261.1_Missense_Mutation_p.W172L|DMKN_ENST00000451297.2_Missense_Mutation_p.W172L|DMKN_ENST00000429837.1_Missense_Mutation_p.W172L|DMKN_ENST00000419602.1_Missense_Mutation_p.W172L|DMKN_ENST00000447113.2_Missense_Mutation_p.W172L|DMKN_ENST00000440396.1_Missense_Mutation_p.W172L|DMKN_ENST00000424570.2_Missense_Mutation_p.W172L	NM_033317.4	NP_201574.3	Q6E0U4	DMKN_HUMAN	dermokine	172	Gly-rich.					extracellular region		p.W172L(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCGTGGACCCACGGAGTCCC	0.592000													14	183					2.32078e-09	2.96057e-09	0.003163	1	0
RORA	6095	broad.mit.edu	37	15	60795017	60795017	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:60795017C>A	ENST00000335670.6	-	8	1225	c.1125G>T	c.(1123-1125)caG>caT	p.Q375H	RORA_ENST00000261523.5_Missense_Mutation_p.Q408H|RORA_ENST00000449337.2_Missense_Mutation_p.Q320H|RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.Q400H	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	408	Ligand-binding.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.Q408H(1)|p.Q400H(1)|p.Q375H(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						CGGTGTTGTTCTGAGAGTCAA	0.463000													57	358					1.87854e-15	2.59261e-15	0.014410	1	0
CREB3L2	64764	broad.mit.edu	37	7	137567363	137567363	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:137567363T>C	ENST00000330387.6	-	11	1633	c.1282A>G	c.(1282-1284)Aac>Gac	p.N428D		NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	428					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N428D(1)	FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATCAGCAGGTTTCTGGATCTC	0.577000			T	FUS	fibromyxoid sarcoma								7	51					0	0	0.006214	0	0
DLX2	1746	broad.mit.edu	37	2	172966302	172966302	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:172966302A>C	ENST00000234198.4	-	2	834	c.473T>G	c.(472-474)aTc>aGc	p.I158S	DLX2_ENST00000466293.2_Missense_Mutation_p.I158S	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I158S(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			ACTGGAGTAGATGGTGCGGGG	0.552000													8	127					0	0	0.013537	0	0
MTHFD2	10797	broad.mit.edu	37	2	74441241	74441241	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:74441241C>A	ENST00000394053.2	+	8	1005	c.925C>A	c.(925-927)Cct>Act	p.P309T	MTHFD2_ENST00000409804.1_Missense_Mutation_p.P181T|MTHFD2_ENST00000394050.3_Missense_Mutation_p.P145T|MTHFD2_ENST00000409601.1_Missense_Mutation_p.P226T|RP11-287D1.3_ENST00000451608.2_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.P207T	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	309					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding	p.P207T(1)|p.P309T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CACTCCAGTTCCTGGAGGTGT	0.443000													14	221					1.15088e-07	1.39644e-07	0.004007	1	0
TAPBP	6892	broad.mit.edu	37	6	33272134	33272134	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:33272134T>G	ENST00000434618.2	-	5	1495	c.1150A>C	c.(1150-1152)Att>Ctt	p.I384L	TAPBP_ENST00000456592.2_Missense_Mutation_p.I384L|TAPBP_ENST00000489157.1_Missense_Mutation_p.I297L|TAPBP_ENST00000426633.2_Missense_Mutation_p.I384L|TAPBP_ENST00000475304.1_Missense_Mutation_p.I402L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	384	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	p.I384L(1)		endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GGATGGTGAATTCGACAGGCA	0.652000													8	93					0	0	0.004482	0	0
DOCK4	9732	broad.mit.edu	37	7	111368372	111368372	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:111368372G>T	ENST00000428084.1	-	53	6158	c.5886C>A	c.(5884-5886)ggC>ggA	p.G1962G	DOCK4_ENST00000494651.2_Silent_p.G836G|DOCK4_ENST00000437633.1_Silent_p.G1953G			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1953					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.G1912G(1)|p.G1953G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGGGCCGCGGGCCGGGGTCAG	0.617000													14	65					1.37285e-15	1.90584e-15	0.004007	1	0
ATRX	546	broad.mit.edu	37	X	76763965	76763965	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:76763965G>T	ENST00000373344.5	-	35	7557	c.7343C>A	c.(7342-7344)cCt>cAt	p.P2448H	ATRX_ENST00000395603.3_Missense_Mutation_p.P2410H|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2448					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.P2448H(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTAGTTAGAAGGATTCATGAT	0.483000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						15	75					4.7546e-09	6.01655e-09	0.004007	1	0
MOCS3	27304	broad.mit.edu	37	20	49576222	49576222	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:49576222G>A	ENST00000244051.1	+	1	860	c.843G>A	c.(841-843)ctG>ctA	p.L281L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	281					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L281L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TTGATGCCCTGAGAGGGCATT	0.607000													13	45					0	0	0.001855	0	0
KCNA3	3738	broad.mit.edu	37	1	111216208	111216208	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:111216208C>T	ENST00000369769.2	-	1	1447	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	408						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.G408G(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGATGACCCCAATAAAGA	0.582000													7	63					0	0	0.001984	0	0
ICAM3	3385	broad.mit.edu	37	19	10445249	10445249	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:10445249C>A	ENST00000589261.1	-	5	1448	c.916G>T	c.(916-918)Ggc>Tgc	p.G306C	ICAM3_ENST00000160262.5_Missense_Mutation_p.G383C			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	383					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	p.G383C(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)			AAGAACTCGCCGTCCACCTCG	0.602000													9	38					0.000442599	0.000484703	0.006214	1	0
BTNL8	79908	broad.mit.edu	37	5	180377285	180377285	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:180377285G>C	ENST00000340184.4	+	8	1450	c.1244G>C	c.(1243-1245)tGt>tCt	p.C415S	BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000511704.1_Missense_Mutation_p.C299S|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.C290S|BTNL8_ENST00000505126.1_Missense_Mutation_p.C208S|BTNL8_ENST00000533815.2_Missense_Mutation_p.C231S	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	415	B30.2/SPRY.					integral to membrane		p.C415S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACTATGAGTGTGGGACCATC	0.448000													28	56					0	0	0.012213	0	0
INO80B	83444	broad.mit.edu	37	2	74682700	74682700	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:74682700G>A	ENST00000233331.7	+	2	320	c.226G>A	c.(226-228)Ggg>Agg	p.G76R	INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.G76R	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	76					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding	p.G63R(1)|p.G76R(1)		endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						AATCAAGCTTGGGGGACAAGT	0.522000													9	115					0	0	0.006214	0	0
DNAH9	1770	broad.mit.edu	37	17	11608469	11608469	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:11608469C>T	ENST00000262442.3	+	26	5587	c.5519C>T	c.(5518-5520)aCa>aTa	p.T1840I	DNAH9_ENST00000454412.2_Missense_Mutation_p.T1840I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1840	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T1840I(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)		CTGGGAAACACACCTCGCTTG	0.517000													5	72					0	0	0.000602	0	0
BCL9L	283149	broad.mit.edu	37	11	118771514	118771514	+	Missense_Mutation	SNP	C	C	A	rs150094487		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:118771514C>A	ENST00000334801.3	-	6	3902	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	980	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	p.G980C(4)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGGGAGGAGCCGAGGACCTGG	0.637000													10	101					2.27111e-07	2.7346e-07	0.013537	1	0
GABRA5	2558	broad.mit.edu	37	15	27188545	27188545	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:27188545A>G	ENST00000335625.5	+	10	1949	c.1061A>G	c.(1060-1062)aAa>aGa	p.K354R	GABRA5_ENST00000400081.3_Missense_Mutation_p.K354R|GABRA5_ENST00000355395.5_Missense_Mutation_p.K354R	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	354					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.K354R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGGATGGCAAAAAAGCCTTG	0.493000													3	4					0	0	0.004672	0	0
ZNF217	7764	broad.mit.edu	37	20	52192873	52192873	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:52192873A>G	ENST00000371471.2	-	4	2855	c.2430T>C	c.(2428-2430)tcT>tcC	p.S810S	ZNF217_ENST00000302342.3_Silent_p.S810S			O75362	ZN217_HUMAN	zinc finger protein 217	810					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S810S(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTAAAGTGCTAGAGTCTATCC	0.582000													25	135					0	0	0.003954	0	0
TAF1L	138474	broad.mit.edu	37	9	32630923	32630923	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:32630923T>C	ENST00000242310.4	-	1	4744	c.4655A>G	c.(4654-4656)aAt>aGt	p.N1552S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1552	Bromo 2.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.N1552S(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAACTTCTTATTAACTGGGTG	0.398000													24	113					0	0	0.002780	0	0
TBX21	30009	broad.mit.edu	37	17	45811197	45811197	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:45811197C>T	ENST00000177694.1	+	1	588	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	126					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A126V(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGGACTACGCGCTACCCGCG	0.687000													4	15					0	0	0.000602	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507147	130507147	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:130507147T>G	ENST00000314830.8	-	7	1609	c.1496A>C	c.(1495-1497)cAg>cCg	p.Q499P	SH2D3C_ENST00000373276.3_Missense_Mutation_p.Q431P|SH2D3C_ENST00000373277.4_Missense_Mutation_p.Q342P|SH2D3C_ENST00000420366.1_Missense_Mutation_p.Q341P|SH2D3C_ENST00000373274.3_Missense_Mutation_p.Q339P|SH2D3C_ENST00000429553.1_Missense_Mutation_p.Q145P|SH2D3C_ENST00000471939.1_5'UTR	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	499					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.Q499P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGGAGGCTGGAGCTGGCA	0.647000													17	149					0	0	0.006320	0	0
LINC00477	144360	broad.mit.edu	37	12	24736571	24736571	+	RNA	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:24736571G>T	ENST00000483544.1	-	0	531					NR_029451.2													p.P161P(2)									GAAAAAAAGGGGGCCCAGGAC	0.552000													23	123					1.85244e-09	2.36952e-09	0.003330	1	0
TSHR	7253	broad.mit.edu	37	14	81609452	81609452	+	Silent	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:81609452T>A	ENST00000541158.2	+	11	1372	c.1050T>A	c.(1048-1050)gcT>gcA	p.A350A	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.A350A			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	350					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.H351Y(1)		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)	ATAACAACGCTCATTATTACG	0.453000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						53	108					0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766190	77766190	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:77766190G>A	ENST00000521891.2	+	10	7481	c.7033G>A	c.(7033-7035)Gat>Aat	p.D2345N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2319N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2300N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2300N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2300	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D2329N(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)			TGATGCCCAAGATGAAAGCCA	0.448000										HNSCC(33;0.089)			20	280					0	0	0.002780	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51656446	51656446	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:51656446C>A	ENST00000317643.6	+	7	1417	c.1348C>A	c.(1348-1350)Cta>Ata	p.L450I	SIGLEC7_ENST00000600577.1_3'UTR|CTD-3187F8.14_ENST00000600074.1_RNA|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.L357I	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	450					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.L450I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GCCTCAGGACCTATCAGGACA	0.542000													22	65					3.08376e-08	3.83036e-08	0.003330	1	0
FOXB2	442425	broad.mit.edu	37	9	79634737	79634737	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:79634737G>A	ENST00000376708.1	+	1	167	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	56					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R56H(3)		breast(1)|lung(8)|ovary(1)	10						CACACACAGCGCTGGCAGAAC	0.607000													10	36					0	0	0.008291	0	0
ZNF277	11179	broad.mit.edu	37	7	111846828	111846828	+	Silent	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:111846828G>C	ENST00000421043.1	+	1	77	c.57G>C	c.(55-57)ggG>ggC	p.G19G	ZNF277_ENST00000361822.3_Silent_p.G19G|ZNF277_ENST00000450657.1_Silent_p.G19G			Q9NRM2	ZN277_HUMAN	zinc finger protein 277	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G19G(1)		breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACCGTGATGGGAGCTGCAGCA	0.632000													18	47					0	0	0.004656	0	0
CDK12	51755	broad.mit.edu	37	17	37646907	37646907	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:37646907G>T	ENST00000447079.4	+	3	2062	c.2029G>T	c.(2029-2031)Ggt>Tgt	p.G677C	CDK12_ENST00000430627.2_Missense_Mutation_p.G677C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	677					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.G677Y(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AGAGCTCCCTGGTGGAGATCT	0.473000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			17	39					3.99206e-14	5.399e-14	0.007413	1	0
TTC23L	153657	broad.mit.edu	37	5	34867061	34867061	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:34867061G>T	ENST00000505624.1	+	7	830	c.727G>T	c.(727-729)Gtt>Ttt	p.V243F	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	243							binding	p.V243Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						AATTGGCGATGTTATTGCTGC	0.498000													7	13					0.00198382	0.0021281	0.001984	1	0
TPO	7173	broad.mit.edu	37	2	1491667	1491667	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:1491667G>A	ENST00000345913.4	+	10	1763	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.E385K|TPO_ENST00000382201.3_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E385K|TPO_ENST00000346956.3_Missense_Mutation_p.E558K|TPO_ENST00000337415.3_Missense_Mutation_p.E558K|TPO_ENST00000329066.4_Missense_Mutation_p.E558K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	558					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E558K(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCTGATGAACGAGGAGCTGAC	0.562000													4	101					0	0	0.000602	0	0
OR6T1	219874	broad.mit.edu	37	11	123813616	123813616	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:123813616G>T	ENST00000321252.2	-	1	964	c.930C>A	c.(928-930)ctC>ctA	p.L310L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L310L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCACAGCAGTGAGCCTGGGCC	0.428000													27	174					1.77063e-15	2.45085e-15	0.005443	1	0
SPRYD3	84926	broad.mit.edu	37	12	53468892	53468892	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:53468892C>A	ENST00000301463.4	-	4	444	c.358G>T	c.(358-360)Gct>Tct	p.A120S	SPRYD3_ENST00000547837.1_Missense_Mutation_p.A157S	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	120	B30.2/SPRY.							p.A120S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CCATCATCAGCATGGTAGGCT	0.547000													15	200					2.31682e-05	2.6287e-05	0.003163	1	0
PCNA	5111	broad.mit.edu	37	20	5096118	5096118	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:5096118C>T	ENST00000379160.3	-	6	925	c.683G>A	c.(682-684)aGt>aAt	p.S228N	PCNA_ENST00000379143.5_Missense_Mutation_p.S228N	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	228					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	p.S228N(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						TGCAGACATACTGAGTGTCAC	0.388000								DNA polymerases (catalytic subunits)					29	199					0	0	0.008361	0	0
PCDH18	54510	broad.mit.edu	37	4	138452918	138452918	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:138452918C>A	ENST00000344876.4	-	1	711	c.325G>T	c.(325-327)Gat>Tat	p.D109Y	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D109Y|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	109	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D109Y(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)					GTGATCACATCAAACTCTATG	0.408000													27	209					2.79863e-10	3.61905e-10	0.004656	1	0
OR2T11	127077	broad.mit.edu	37	1	248789557	248789557	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:248789557G>A	ENST00000330803.2	-	1	934	c.873C>T	c.(871-873)aaC>aaT	p.N291N		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N291N(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACGTCCTTGTTTCTGAGGC	0.478000													8	63					0	0	0.004482	0	0
MOS	4342	broad.mit.edu	37	8	57025678	57025678	+	Nonsense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:57025678G>C	ENST00000311923.1	-	1	863	c.864C>G	c.(862-864)taC>taG	p.Y288*		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	288	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.Y288*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CCACCACCGCGTACAGTATGT	0.632000													3	53					0	0	0.009096	0	0
F13B	2165	broad.mit.edu	37	1	197030094	197030094	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:197030094C>G	ENST00000367412.1	-	4	606	c.563G>C	c.(562-564)gGa>gCa	p.G188A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	188	Sushi 3.				blood coagulation	extracellular region		p.G188A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTTTCCTCCAGCTGTGTA	0.393000													3	60					0	0	0.009096	0	0
NCOR2	9612	broad.mit.edu	37	12	124832795	124832795	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:124832795T>A	ENST00000356219.3	-	30	4086	c.3931A>T	c.(3931-3933)Acg>Tcg	p.T1311S	NCOR2_ENST00000429285.2_Missense_Mutation_p.T1294S|NCOR2_ENST00000405201.1_Missense_Mutation_p.T1304S|NCOR2_ENST00000404621.1_Missense_Mutation_p.T1294S|NCOR2_ENST00000404121.2_Missense_Mutation_p.T865S|NCOR2_ENST00000397355.1_Missense_Mutation_p.T1295S	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1312					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.T1304S(1)|p.T1311S(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGGCGGCCGTCTCATGGGGG	0.617000											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	87					0	0	0.012319	0	0
TLR10	81793	broad.mit.edu	37	4	38776144	38776144	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:38776144G>T	ENST00000308973.4	-	4	1673	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A	TLR10_ENST00000508334.1_Silent_p.A356A|TLR10_ENST00000361424.2_Silent_p.A356A|TLR10_ENST00000506111.1_Silent_p.A356A	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	356					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.A356A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGATATTATTGGCAAAATTTA	0.338000													12	109					4.36969e-10	5.63523e-10	0.001855	1	0
OR2B6	26212	broad.mit.edu	37	6	27925333	27925333	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:27925333G>T	ENST00000244623.1	+	1	315	c.315G>T	c.(313-315)ctG>ctT	p.L105L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATATTTCTGGCCTTGGGGG	0.443000													9	67					0.000442599	0.000484703	0.006214	1	0
FBXL7	23194	broad.mit.edu	37	5	15936565	15936565	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:15936565C>G	ENST00000504595.1	+	4	1227	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FBXL7_ENST00000329673.7_Missense_Mutation_p.S237C|FBXL7_ENST00000510662.1_Missense_Mutation_p.S202C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	249					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.S249C(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCAGGATGCTCCAAAGTGACC	0.587000													4	31					0	0	0.009096	0	0
MX2	4600	broad.mit.edu	37	21	42769609	42769609	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr21:42769609G>T	ENST00000330714.3	+	8	1324	c.1140G>T	c.(1138-1140)atG>atT	p.M380I	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	380					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.M380I(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AACTCATCATGCATATCCAAG	0.512000													8	57					1.12685e-05	1.29096e-05	0.004482	1	0
RIPK1	8737	broad.mit.edu	37	6	3085519	3085519	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:3085519A>G	ENST00000259808.4	+	6	1013	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	RIPK1_ENST00000380409.2_Missense_Mutation_p.M239V|RIPK1_ENST00000541791.1_Missense_Mutation_p.M193V|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	239	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.M239V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCAGTTGATAATGTGCATAAA	0.453000													11	106					0	0	0.008291	0	0
NPS	594857	broad.mit.edu	37	10	129350835	129350835	+	Nonsense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:129350835A>T	ENST00000398023.1	+	3	222	c.202A>T	c.(202-204)Aaa>Taa	p.K68*		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	68					neuropeptide signaling pathway	extracellular region		p.K68*(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						GATGTTTGTGAAAAGGTCCTT	0.408000													33	374					0	0	0.003755	0	0
CHD1L	9557	broad.mit.edu	37	1	146747843	146747843	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:146747843G>A	ENST00000369258.4	+	14	1481	c.1461G>A	c.(1459-1461)ctG>ctA	p.L487L	CHD1L_ENST00000431239.1_Silent_p.L393L|CHD1L_ENST00000361293.5_Silent_p.L206L|CHD1L_ENST00000369259.3_Silent_p.L283L|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	487	Helicase C-terminal.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.L487L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCTCCAAACTGCAGCTCACCA	0.463000													11	99					0	0	0.013537	0	0
UBA3	9039	broad.mit.edu	37	3	69124610	69124610	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:69124610C>T	ENST00000361055.4	-	4	289	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Missense_Mutation_p.G65S	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	79					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	p.G79S(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CATCCTAAGCCGCCAGCTCCA	0.333000													8	24					0	0	0.006214	0	0
CCM2L	140706	broad.mit.edu	37	20	30602764	30602764	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:30602764T>G	ENST00000300415.8	+	2	101	c.88T>G	c.(88-90)Tgt>Ggt	p.C30G	CCM2L_ENST00000262659.8_Missense_Mutation_p.C30G					cerebral cavernous malformation 2-like									p.C30G(2)									CCGGGCAGCCTGTAGGAGCAG	0.622000													14	97					0	0	0.004289	0	0
DGKH	160851	broad.mit.edu	37	13	42784849	42784849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:42784849G>T	ENST00000379274.2	+	24	2983	c.2554G>T	c.(2554-2556)Gag>Tag	p.E852*	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Nonsense_Mutation_p.E988*|DGKH_ENST00000261491.4_Nonsense_Mutation_p.E988*|DGKH_ENST00000538674.1_Nonsense_Mutation_p.E743*|DGKH_ENST00000536612.1_Nonsense_Mutation_p.E852*|DGKH_ENST00000540693.1_Nonsense_Mutation_p.E988*			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	988					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.E988*(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GGCAACAGAAGAGGTGTCGCA	0.507000													6	72					0.00198382	0.0021281	0.001984	1	0
IGDCC4	57722	broad.mit.edu	37	15	65678177	65678177	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:65678177T>C	ENST00000352385.2	-	18	3381	c.3172A>G	c.(3172-3174)Aaa>Gaa	p.K1058E		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1058						integral to membrane|plasma membrane		p.K1058E(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						ACCTTTCTTTTGGAGTGACTC	0.587000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	98					0	0	0.006122	0	0
WFDC2	10406	broad.mit.edu	37	20	44108308	44108308	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:44108308C>G	ENST00000217425.5	+	3	276	c.250C>G	c.(250-252)Cgg>Ggg	p.R84G	WFDC2_ENST00000342873.3_5'UTR|WFDC2_ENST00000488143.1_3'UTR|WFDC2_ENST00000339946.3_Intron|WFDC2_ENST00000372676.3_Intron			Q14508	WFDC2_HUMAN	WAP four-disulfide core domain 2	0	WAP 2.				proteolysis|spermatogenesis	extracellular space	serine-type endopeptidase inhibitor activity			lung(1)	1		Myeloproliferative disorder(115;0.0122)				cctaaagacacggaggctctg	0.478000													16	93					0	0	0.004007	0	0
OR4D9	390199	broad.mit.edu	37	11	59282669	59282669	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:59282669G>A	ENST00000329328.3	+	1	284	c.284G>A	c.(283-285)aGt>aAt	p.S95N		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S95N(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATCTCCTTCAGTGGCTGTGTC	0.473000													32	166					0	0	0.012213	0	0
TCF20	6942	broad.mit.edu	37	22	42609585	42609585	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr22:42609585G>C	ENST00000359486.3	-	1	1863	c.1727C>G	c.(1726-1728)gCc>gGc	p.A576G	TCF20_ENST00000335626.4_Missense_Mutation_p.A576G	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.A576G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCTTGCGGCAGGACTAGC	0.557000													20	65					0	0	0.008871	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320297	79320297	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:79320297G>A	ENST00000428286.1	-	8	7016	c.5816C>T	c.(5815-5817)gCc>gTc	p.A1939V	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2298V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2298					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.A2298V(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGGTCAAAGGCAGCTTCGCT	0.473000													16	52					0	0	0.004007	0	0
MYH4	4622	broad.mit.edu	37	17	10356616	10356616	+	Silent	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:10356616A>T	ENST00000255381.2	-	24	3074	c.2964T>A	c.(2962-2964)ggT>ggA	p.G988G	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	988					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G988G(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCATCCAGACCTGCCATCT	0.463000													13	169					0	0	0.002450	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812327	140812327	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:140812327C>G	ENST00000252085.3	+	1	2143	c.2001C>G	c.(1999-2001)agC>agG	p.S667R	PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.S667R(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)			TGGCCGACAGCATCCCCCAAG	0.657000													12	91					0	0	0.002450	0	0
PRDM2	7799	broad.mit.edu	37	1	14108797	14108797	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:14108797G>T	ENST00000235372.7	+	8	5363	c.4507G>T	c.(4507-4509)Gca>Tca	p.A1503S	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.A1302S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A1503S|PRDM2_ENST00000413440.1_Missense_Mutation_p.A1302S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1503						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1503S(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTCATCACCTGCAAGTAGTGA	0.478000													35	265					9.04072e-19	1.2931e-18	0.003271	1	0
DENND1A	57706	broad.mit.edu	37	9	126641232	126641232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:126641232G>A	ENST00000373618.1	-	2	332	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	DENND1A_ENST00000373624.2_Missense_Mutation_p.S29L|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.Q14*|DENND1A_ENST00000373620.3_Missense_Mutation_p.S29L			Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	0						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.S29L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAAAGTACCTGAAAGAGTGCC	0.363000													13	66					0	0	0.002450	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769680	31769680	+	Missense_Mutation	SNP	G	G	T	rs147659074	byFrequency	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:31769680G>T	ENST00000240587.4	-	2	1346	c.1019C>A	c.(1018-1020)aCc>aAc	p.T340N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	340					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.T157N(1)|p.T340N(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)					GGCTTTGGGGGTTCCACCTGT	0.572000													26	363					4.72057e-08	5.83275e-08	0.003954	1	0
FAM170A	340069	broad.mit.edu	37	5	118969934	118969934	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:118969934C>T	ENST00000515256.1	+	3	663	c.491C>T	c.(490-492)tCt>tTt	p.S164F				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	164						intracellular	zinc ion binding	p.S164F(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GTGACCCTTTCTGAGGTTGTG	0.517000													4	102					0	0	0.001168	0	0
BLNK	29760	broad.mit.edu	37	10	97969624	97969624	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:97969624G>C	ENST00000224337.5	-	9	857	c.716C>G	c.(715-717)cCa>cGa	p.P239R	BLNK_ENST00000371176.2_Missense_Mutation_p.P216R|BLNK_ENST00000413476.2_Missense_Mutation_p.P239R|BLNK_ENST00000427367.2_Missense_Mutation_p.P239R	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	239	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.P239R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		TGGTGCAGCTGGTGGAGGTGA	0.577000													27	210					0	0	0.009535	0	0
ANKRD55	79722	broad.mit.edu	37	5	55412547	55412547	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:55412547A>C	ENST00000341048.4	-	9	1011	c.860T>G	c.(859-861)tTg>tGg	p.L287W	ANKRD55_ENST00000434982.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.L244W|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	286								p.L287W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTCCATTCCCAACTCCAGCAG	0.587000													14	71					0	0	0.002450	0	0
LPA	4018	broad.mit.edu	37	6	160968971	160968971	+	Splice_Site	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:160968971T>C	ENST00000447678.1	-	33	5276		c.e33-2		LPA_ENST00000316300.5_Splice_Site	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACATACAGTCTGTAGAAAAAA	0.483000													29	96					0	0	0.006320	0	0
CYP2C18	1562	broad.mit.edu	37	10	96443609	96443609	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:96443609C>A	ENST00000285979.6	+	1	232	c.33C>A	c.(31-33)ctC>ctA	p.L11L	CYP2C18_ENST00000339022.5_Silent_p.L11L	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18									p.L11L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TGCTCTGTCTCTCCTGTTTGT	0.507000													8	74					7.48243e-07	8.87363e-07	0.006214	1	0
CCDC74B	91409	broad.mit.edu	37	2	130900723	130900723	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:130900723C>A	ENST00000409234.3	-	2	500	c.414G>T	c.(412-414)agG>agT	p.R138S	CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000392984.3_5'UTR			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	281										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TCCCCCAGAACCTGTCCCCAC	0.632000													6	10					2.0095e-06	2.34193e-06	0.001984	1	0
GORAB	92344	broad.mit.edu	37	1	170521505	170521505	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:170521505G>A	ENST00000367763.3	+	5	1107	c.1087G>A	c.(1087-1089)Gta>Ata	p.V363I		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	363	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus		p.V363I(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCCCCAAAGGTAGATGACCA	0.448000													14	157					0	0	0.001855	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154091	37154091	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:37154091G>C	ENST00000262879.6	+	12	2116	c.1832G>C	c.(1831-1833)cGa>cCa	p.R611P	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R389P|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R611P|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R611P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	611					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.R611P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGAATTGCGAAGATCCTCC	0.328000													14	154					0	0	0.002450	0	0
KCNA5	3741	broad.mit.edu	37	12	5154911	5154911	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:5154911C>T	ENST00000252321.3	+	1	1827	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	533						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.A533V(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAGGAGCCGGCAGTCCTTAAG	0.627000													19	68					0	0	0.012319	0	0
ZMYM3	9203	broad.mit.edu	37	X	70462880	70462880	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:70462880T>A	ENST00000373998.1	-	22	4148	c.3451A>T	c.(3451-3453)Act>Tct	p.T1151S	ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1165S|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1158S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1163S|ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1163S	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1163					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.T1163S(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGAACAAAAGTCAGGTAGTAA	0.488000													10	47					0	0	0.008291	0	0
SCRIB	23513	broad.mit.edu	37	8	144890968	144890968	+	Silent	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:144890968G>C	ENST00000356994.2	-	15	1932	c.1926C>G	c.(1924-1926)ccC>ccG	p.P642P	SCRIB_ENST00000377533.3_Silent_p.P561P|SCRIB_ENST00000320476.3_Silent_p.P642P	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	642	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	p.P642P(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCCAGCCCCCGGGAGCCACAG	0.652000													52	147					0	0	0.014410	0	0
GABARAPL1	23710	broad.mit.edu	37	12	10374401	10374401	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:10374401G>T	ENST00000546017.1	+	4	973	c.34G>T	c.(34-36)Gac>Tac	p.D12Y	GABARAPL1_ENST00000539170.1_Missense_Mutation_p.D12Y|GABARAPL1_ENST00000545887.1_Missense_Mutation_p.D102Y|GABARAPL1_ENST00000535576.1_Missense_Mutation_p.D12Y|GABARAPL1_ENST00000544284.1_Missense_Mutation_p.D12Y|GABARAPL1_ENST00000266458.5_Missense_Mutation_p.D102Y			Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	102	Interaction with beta-tubulin (By similarity).					autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding	p.D102Y(1)		NS(1)|lung(1)	2						TCATGAGGAAGACTATTTTCT	0.458000													11	87					9.31168e-06	1.0746e-05	0.001855	1	0
MUC16	94025	broad.mit.edu	37	19	9046507	9046507	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:9046507A>G	ENST00000397910.4	-	5	35327	c.35124T>C	c.(35122-35124)ttT>ttC	p.F11708F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11710	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F11708F(1)|p.F7341F(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						TACTATGGGAAAAACTGGAGG	0.512000													30	96					0	0	0.010818	0	0
CRLF2	64109	broad.mit.edu	37	X	1325460	1325460	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:1325460G>C	ENST00000381567.3	-	3	214	c.215C>G	c.(214-216)aCc>aGc	p.T72S	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.T72S	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	72						extracellular region|integral to membrane|plasma membrane	receptor activity	p.T72S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AAGGTAGTTGGTGCACTGGTC	0.478000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								6	129					0	0	0.004482	0	0
ZNF259	8882	broad.mit.edu	37	11	116657265	116657265	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:116657265C>A	ENST00000227322.3	-	4	516	c.457G>T	c.(457-459)Gct>Tct	p.A153S		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	153					cell proliferation|signal transduction	cytoplasm|nucleolus		p.A153S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCAGAGATAGCACGGGTGATC	0.483000													9	51					0.000274275	0.000302472	0.004482	1	0
FEM1B	10116	broad.mit.edu	37	15	68583378	68583378	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:68583378A>C	ENST00000306917.4	+	2	2297	c.1682A>C	c.(1681-1683)gAa>gCa	p.E561A		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	561					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.E561A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AGCCTAGTTGAAGCCGGAGCT	0.423000													30	68					0	0	0.006320	0	0
TBX5	6910	broad.mit.edu	37	12	114832619	114832619	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:114832619T>C	ENST00000310346.4	-	6	1256	c.590A>G	c.(589-591)aAa>aGa	p.K197R	TBX5_ENST00000526441.1_Missense_Mutation_p.K197R|TBX5_ENST00000349716.5_Missense_Mutation_p.K147R|TBX5_ENST00000405440.2_Missense_Mutation_p.K197R	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	197					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.K197R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CGCTGTATTTTTTGAGCCAAA	0.403000													35	425					0	0	0.008740	0	0
RYR1	6261	broad.mit.edu	37	19	38954167	38954167	+	Splice_Site	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:38954167G>C	ENST00000355481.4	+	21	2813	c.2682_splice	c.e21+1	p.P894_splice	RYR1_ENST00000360985.3_Splice_Site_p.P894_splice|RYR1_ENST00000359596.3_Splice_Site_p.P894_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	894	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P894P(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTACGGCCCGGTGAGGGGCT	0.701000													39	15					0	0	0.014410	0	0
ADCK4	79934	broad.mit.edu	37	19	41220467	41220467	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:41220467C>G	ENST00000324464.3	-	2	372	c.71G>C	c.(70-72)tGt>tCt	p.C24S	ADCK4_ENST00000450541.1_Missense_Mutation_p.C24S|ADCK4_ENST00000243583.6_Missense_Mutation_p.C24S	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	24						integral to membrane	protein serine/threonine kinase activity	p.C24S(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CAGGGCCCCACAAGGCCAACC	0.632000													14	341					0	0	0.008871	0	0
LATS1	9113	broad.mit.edu	37	6	150001145	150001145	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:150001145T>C	ENST00000543571.1	-	5	3006	c.2459A>G	c.(2458-2460)cAt>cGt	p.H820R	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.H820R	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	820	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	p.H820R(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACCCATTTTATGAACACTTTC	0.378000													18	182					0	0	0.007413	0	0
POLE	5426	broad.mit.edu	37	12	133245323	133245323	+	Splice_Site	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:133245323G>C	ENST00000320574.5	-	18	1967	c.1923_splice	c.e18-1	p.P642_splice	POLE_ENST00000535270.1_Splice_Site_p.P615_splice	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	642					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.P642A(2)		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)		ATGGCAGAGGGCTGGGAGGGG	0.587000								DNA polymerases (catalytic subunits)					8	48					0	0	0.004482	0	0
SOX5	6660	broad.mit.edu	37	12	23893822	23893822	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:23893822C>A	ENST00000546136.1	-	4	683	c.681G>T	c.(679-681)ctG>ctT	p.L227L	SOX5_ENST00000545921.1_Silent_p.L230L|SOX5_ENST00000541847.1_Silent_p.L230L|SOX5_ENST00000451604.2_Silent_p.L240L|SOX5_ENST00000537393.1_Silent_p.L205L|SOX5_ENST00000381381.2_Silent_p.L227L|SOX5_ENST00000309359.1_Silent_p.L227L|SOX5_ENST00000541536.1_Silent_p.L227L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	240					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.L240P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTGCTTGGCCAGCTCCATTT	0.502000													14	87					2.48551e-13	3.33284e-13	0.004990	1	0
NANOGP1	404635	broad.mit.edu	37	12	8048203	8048203	+	RNA	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:8048203G>A	ENST00000607111.1	+	0	131																		p.K37K(1)		kidney(1)|lung(4)|prostate(1)	6						TCCCGGTCAAGAAACAGAAGA	0.473000													26	118					0	0	0.003330	0	0
NCOR2	9612	broad.mit.edu	37	12	124812069	124812069	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:124812069A>G	ENST00000356219.3	-	46	7245	c.7090T>C	c.(7090-7092)Tcc>Ccc	p.S2364P	NCOR2_ENST00000429285.2_Missense_Mutation_p.S2347P|NCOR2_ENST00000405201.1_Missense_Mutation_p.S2357P|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1918P|NCOR2_ENST00000397355.1_Intron	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2368					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.S2357P(1)|p.W2364R(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCGGCGGGGACTCTTCCCAC	0.572000													4	38					0	0	0.002450	0	0
PIGM	93183	broad.mit.edu	37	1	160001425	160001425	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:160001425A>G	ENST00000368090.2	-	1	358	c.105T>C	c.(103-105)taT>taC	p.Y35Y		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	35					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		p.Y35Y(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAAGACGCCATAGAAAACCA	0.622000													78	143					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25472319	25472319	+	RNA	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:25472319T>C	ENST00000453082.2	+	0	1238				SNORD115-31_ENST00000365318.1_RNA	NR_003343.1																						TCATGCTCAATAGGATTACAC	0.498000													33	313					0	0	0.003755	0	0
GPR139	124274	broad.mit.edu	37	16	20043226	20043226	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:20043226G>T	ENST00000570682.1	-	2	1193	c.893C>A	c.(892-894)gCc>gAc	p.A298D		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	298						integral to membrane|plasma membrane		p.A298D(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						CTTGAGCGTGGCGGCTGCCAT	0.507000													20	124					1.42536e-11	1.8845e-11	0.004656	1	0
USP3	9960	broad.mit.edu	37	15	63829318	63829318	+	Missense_Mutation	SNP	A	A	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:63829318A>C	ENST00000268049.7	+	4	505	c.181A>C	c.(181-183)Aca>Cca	p.T61P	USP3_ENST00000539772.1_Intron|USP3_ENST00000380324.3_Missense_Mutation_p.T83P|USP3_ENST00000558285.1_Missense_Mutation_p.T66P|USP3_ENST00000540797.1_Intron|USP3_ENST00000536001.1_Missense_Mutation_p.T83P			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	83					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T83P(1)		endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGTTCAGCACACAGTATGTAT	0.383000													4	47					0	0	0.009096	0	0
HRNR	388697	broad.mit.edu	37	1	152188299	152188299	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:152188299G>A	ENST00000368801.2	-	3	5881	c.5806C>T	c.(5806-5808)Cac>Tac	p.H1936Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1936					keratinization		calcium ion binding|protein binding	p.H1936Y(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)			TGTTGGCCGTGGCCCAAAGAC	0.582000													61	1739					0	0	0.006320	0	0
SNAI1	6615	broad.mit.edu	37	20	48604461	48604461	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:48604461C>T	ENST00000244050.2	+	3	724	c.663C>T	c.(661-663)tcC>tcT	p.S221S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	221					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding	p.S221S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTGACCGCTCCAACCTGCGGG	0.637000													18	102					0	0	0.014323	0	0
GON4L	54856	broad.mit.edu	37	1	155735336	155735336	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:155735336G>A	ENST00000437809.1	-	21	4050	c.3928C>T	c.(3928-3930)Cag>Tag	p.Q1310*	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Nonsense_Mutation_p.Q1310*|GON4L_ENST00000361040.5_Nonsense_Mutation_p.Q1310*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.Q1310*			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1310					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.Q1310*(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAGACTCCTGGATGCCCTGA	0.527000													4	105					0	0	0.000602	0	0
R3HDML	140902	broad.mit.edu	37	20	42974015	42974015	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:42974015T>C	ENST00000217043.2	+	4	798	c.626T>C	c.(625-627)aTt>aCt	p.I209T		NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	209						extracellular region	peptidase inhibitor activity	p.I209T(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			AACTATGCCATTAAGTAAGTG	0.552000													24	145					0	0	0.002780	0	0
EPB41L5	57669	broad.mit.edu	37	2	120776812	120776812	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:120776812A>T	ENST00000263713.5	+	2	366	c.152A>T	c.(151-153)gAt>gTt	p.D51V	EPB41L5_ENST00000452780.1_Missense_Mutation_p.D51V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D51V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.D51V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.D51V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	51	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.D51V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TCCCTTCTGGATGGTACTGAT	0.473000													31	308					0	0	0.012213	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43486931	43486931	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:43486931T>A	ENST00000300213.4	+	11	1217	c.975T>A	c.(973-975)agT>agA	p.S325R	EPB42_ENST00000563128.1_Intron|CCNDBP1_ENST00000356633.5_Missense_Mutation_p.S164R	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	325	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding	p.S325R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		ACAGAGCAAGTCATGTGACCC	0.393000													15	107					0	0	0.004990	0	0
CRLF2	64109	broad.mit.edu	37	X	1325341	1325341	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:1325341A>G	ENST00000381567.3	-	3	333	c.334T>C	c.(334-336)Tgg>Cgg	p.W112R	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.W112R	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	112						extracellular region|integral to membrane|plasma membrane	receptor activity	p.W112R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAAACCATCCAGCGACTTGCG	0.488000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								10	214					0	0	0.010729	0	0
MEGF8	1954	broad.mit.edu	37	19	42866259	42866259	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:42866259C>T	ENST00000334370.4	+	32	6172	c.5537C>T	c.(5536-5538)tCc>tTc	p.S1846F	MEGF8_ENST00000251268.6_Missense_Mutation_p.S1913F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1913						integral to membrane	calcium ion binding|structural molecule activity	p.S1454F(1)|p.S1846F(1)|p.S1913F(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)				TGCGGGGGCTCCCCCTGCTCC	0.662000													5	16					0	0	0.001168	0	0
RPE	6120	broad.mit.edu	37	2	210881307	210881307	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:210881307T>C	ENST00000359429.6	+	4	516	c.419T>C	c.(418-420)gTt>gCt	p.V140A	RPE_ENST00000429921.1_Missense_Mutation_p.V90A|RPE_ENST00000540255.1_Missense_Mutation_p.V140A|RPE_ENST00000452025.1_Missense_Mutation_p.V140A|RPE_ENST00000411934.2_Missense_Mutation_p.V72A|RPE_ENST00000454822.1_Missense_Mutation_p.V90A|RPE_ENST00000445268.1_Missense_Mutation_p.V72A|RPE_ENST00000435437.2_Missense_Mutation_p.V140A|RPE_ENST00000436630.2_Missense_Mutation_p.V90A|RPE_ENST00000438204.2_Missense_Mutation_p.V72A|RPE_ENST00000429907.1_Missense_Mutation_p.V72A|RPE_ENST00000354506.6_Missense_Mutation_p.V132A	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	140					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	p.V90A(1)|p.V140A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		ATGGCCTTGGTTATGACAGTG	0.433000													3	150					0	0	0.004672	0	0
KCNU1	157855	broad.mit.edu	37	8	36641964	36641964	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:36641964A>G	ENST00000399881.3	+	1	73	c.36A>G	c.(34-36)gaA>gaG	p.E12E		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	12						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.E12E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AAACTTGGGAAGACTTGCCAA	0.448000													3	39					0	0	0.000602	0	0
MUC5B	727897	broad.mit.edu	37	11	1247870	1247870	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:1247870G>A	ENST00000447027.1	+	4	283	c.225G>A	c.(223-225)cgG>cgA	p.R75R	MUC5B_ENST00000529681.1_Silent_p.R75R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	75					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.R75R(2)		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)		ACAATGGGCGGGTGTGCAGCA	0.677000													3	13					0	0	0.004672	0	0
IMMT	10989	broad.mit.edu	37	2	86378641	86378641	+	Missense_Mutation	SNP	C	C	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:86378641C>G	ENST00000410111.3	-	12	1567	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H	IMMT_ENST00000449247.2_Missense_Mutation_p.D383H|IMMT_ENST00000409051.2_Missense_Mutation_p.D347H|IMMT_ENST00000254636.5_Missense_Mutation_p.D295H|IMMT_ENST00000442664.2_Missense_Mutation_p.D393H	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	394						integral to mitochondrial inner membrane	protein binding	p.D394H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GAGAGCTTGTCAGCTAAGCAA	0.388000													4	61					0	0	0.009096	0	0
AMH	268	broad.mit.edu	37	19	2249448	2249448	+	Silent	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:2249448C>T	ENST00000221496.3	+	1	783	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_000479.3	NP_000470.2	P03971	MIS_HUMAN	anti-Mullerian hormone	39					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity	p.F39F(1)		lung(2)	2		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)		GCCTCATCTTCCGAGAAGACT	0.672000									Persistant Mullerian Duct Syndrome (type I and II)				5	12					0	0	0.001168	0	0
PSKH2	85481	broad.mit.edu	37	8	87060752	87060752	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:87060752C>A	ENST00000276616.2	-	3	1171	c.1097G>T	c.(1096-1098)aGg>aTg	p.R366M		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	366							ATP binding|protein serine/threonine kinase activity	p.R366M(2)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCACATATGCCTGGATTTGTG	0.458000													31	185					8.16721e-17	1.16112e-16	0.010818	1	0
LRP2	4036	broad.mit.edu	37	2	170007412	170007412	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:170007412G>T	ENST00000263816.3	-	68	12871	c.12586C>A	c.(12586-12588)Cta>Ata	p.L4196I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4196					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.L4196I(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)	ACTTACCCTAGTTTGGGATTC	0.393000													23	80					7.16444e-05	7.97551e-05	0.003954	1	0
IFI35	3430	broad.mit.edu	37	17	41166314	41166314	+	Nonstop_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:41166314T>A	ENST00000415816.2	+	7	1082	c.859T>A	c.(859-861)Tag>Aag	p.*287K	IFI35_ENST00000438323.2_Nonstop_Mutation_p.*289K	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	0					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding	p.*289K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		TGAGTCAGGCTAGGGGCCTCC	0.632000													4	37					0	0	0.009096	0	0
LPPR4	9890	broad.mit.edu	37	1	99771306	99771306	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:99771306C>A	ENST00000370185.3	+	7	1529	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	LPPR4_ENST00000457765.1_Silent_p.L286L|LPPR4_ENST00000370184.1_Silent_p.L186L	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		344							phosphatidate phosphatase activity	p.L344L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAGACGCCCTCAGGTCTCTGA	0.458000													19	128					1.01871e-10	1.32461e-10	0.008871	1	0
SLC35F1	222553	broad.mit.edu	37	6	118596768	118596768	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:118596768G>T	ENST00000360388.4	+	5	985	c.784G>T	c.(784-786)Gga>Tga	p.G262*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	262					transport	integral to membrane		p.G262*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ATTTTTCAGTGGAATTCAATT	0.368000													15	91					4.14922e-12	5.51671e-12	0.004007	1	0
OR14K1	343170	broad.mit.edu	37	1	247901919	247901919	+	Translation_Start_Site	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:247901919G>T	ENST00000283225.2	+	1	3	c.3G>T	c.(1-3)atG>atT	p.M1I	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1									p.M1I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TTTGAACTATGACCAATCAGA	0.363000													12	73					2.27111e-07	2.7346e-07	0.013537	1	0
PPRC1	23082	broad.mit.edu	37	10	103908224	103908224	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:103908224C>T	ENST00000278070.2	+	10	4535	c.4496C>T	c.(4495-4497)tCt>tTt	p.S1499F	PPRC1_ENST00000370012.1_Missense_Mutation_p.S466F|PPRC1_ENST00000413464.2_Missense_Mutation_p.S1235F|PPRC1_ENST00000489648.1_3'UTR	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1499	Arg-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	p.S1499F(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		tcatcCAGTTCTCGAAGCCGC	0.577000													17	142					0	0	0.006122	0	0
NLRP7	199713	broad.mit.edu	37	19	55452324	55452324	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:55452324T>C	ENST00000588756.1	-	5	813	c.327A>G	c.(325-327)gaA>gaG	p.E109E	NLRP7_ENST00000328092.5_Silent_p.E109E|NLRP7_ENST00000592784.1_Silent_p.E109E|NLRP7_ENST00000590030.1_Silent_p.E109E|NLRP7_ENST00000340844.2_Silent_p.E109E|NLRP7_ENST00000446217.1_Silent_p.E137E|NLRP7_ENST00000448121.2_Silent_p.E109E			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	109							ATP binding	p.E109E(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)		CCGAGTCTTCTTCTGCATCTC	0.433000													37	222					0	0	0.008740	0	0
HOXC4	3221	broad.mit.edu	37	12	54448708	54448708	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:54448708G>C	ENST00000430889.2	+	2	560	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	HOXC4_ENST00000303406.4_Missense_Mutation_p.E172Q	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	172						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E172Q(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CCTGGAATTAGAGAAAGAGTT	0.527000													15	65					0	0	0.004007	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622628	108622628	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:108622628A>G	ENST00000264047.2	+	7	1141	c.865A>G	c.(865-867)Ata>Gta	p.I289V	SLC5A7_ENST00000409059.1_Missense_Mutation_p.I289V|SLC5A7_ENST00000540517.1_Missense_Mutation_p.I184V	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	289					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.I289V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATCCCAGCCATACTCATTGG	0.527000													13	86					0	0	0.012319	0	0
HPS5	11234	broad.mit.edu	37	11	18330609	18330609	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:18330609C>A	ENST00000396253.3	-	5	615	c.153G>T	c.(151-153)gtG>gtT	p.V51V	HPS5_ENST00000349215.3_Silent_p.V165V|HPS5_ENST00000531848.1_Silent_p.V51V|HPS5_ENST00000438420.2_Silent_p.V51V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	165						cytosol		p.V165V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGGAAACATCACAAAAGCAG	0.353000									Hermansky-Pudlak syndrome				15	73					6.31663e-08	7.74402e-08	0.003163	1	0
HCN1	348980	broad.mit.edu	37	5	45645554	45645554	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:45645554A>G	ENST00000303230.4	-	2	639	c.582T>C	c.(580-582)ttT>ttC	p.F194F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	194						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F194F(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCCAGTCCTAAAATTCATGA	0.378000													9	59					0	0	0.013537	0	0
PASK	23178	broad.mit.edu	37	2	242054368	242054368	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:242054368G>C	ENST00000403638.3	-	14	3514	c.3423C>G	c.(3421-3423)ttC>ttG	p.F1141L	PASK_ENST00000405260.1_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000539818.1_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000358649.4_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTCAGAGAGAGAACCGAGTAT	0.483000													8	145					0	0	0.003080	0	0
ADORA3	140	broad.mit.edu	37	1	112043035	112043035	+	Nonsense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:112043035G>C	ENST00000241356.4	-	2	899	c.494C>G	c.(493-495)tCa>tGa	p.S165*	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	165					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.S165*(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AAATTGGCATGAAAGGAAGGT	0.483000													15	152					0	0	0.006122	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066017	153066017	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:153066017T>C	ENST00000368751.1	-	2	285	c.211A>G	c.(211-213)Agc>Ggc	p.S71G	SPRR2E_ENST00000368750.3_Missense_Mutation_p.S71G|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	71					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	p.S71G(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTTACTTGCTCTTGGGTGGA	0.512000													39	378					0	0	0.007835	0	0
ADAM29	11086	broad.mit.edu	37	4	175897288	175897288	+	Silent	SNP	C	C	G	rs114696296	by1000genomes	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:175897288C>G	ENST00000359240.3	+	5	1282	c.612C>G	c.(610-612)gtC>gtG	p.V204V	ADAM29_ENST00000445694.1_Silent_p.V204V|ADAM29_ENST00000404450.4_Silent_p.V204V|ADAM29_ENST00000514159.1_Silent_p.V204V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	204	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATTGTAGTCGTCATTGATA	0.348000													7	93					0	0	0.003080	0	0
CSMD3	114788	broad.mit.edu	37	8	113253965	113253965	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:113253965G>A	ENST00000297405.5	-	66	10696	c.10452C>T	c.(10450-10452)ccC>ccT	p.P3484P	CSMD3_ENST00000455883.2_Silent_p.P3315P|CSMD3_ENST00000343508.3_Silent_p.P3444P|CSMD3_ENST00000352409.3_Silent_p.P3414P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3484						integral to membrane|plasma membrane		p.P3444P(2)|p.P3484P(2)		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						GCTTTGGGCTGGGTGTTCCCA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	79					0	0	0.000602	0	0
CLN5	1203	broad.mit.edu	37	13	77570114	77570114	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr13:77570114C>A	ENST00000377453.3	+	3	1856	c.564C>A	c.(562-564)ttC>ttA	p.F188L	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	139					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.F188L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ATGAACTTTTCCAACTTGGCA	0.413000													43	170					2.24893e-16	3.18768e-16	0.009718	1	0
LILRP2	79166	broad.mit.edu	37	19	55222023	55222023	+	RNA	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:55222023C>T	ENST00000413439.1	+	0	1550																											GGCAGCCCATCACCCACTGCG	0.622000													14	107					0	0	0.004990	0	0
REV3L	5980	broad.mit.edu	37	6	111737651	111737651	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:111737651T>C	ENST00000358835.3	-	3	618	c.164A>G	c.(163-165)cAt>cGt	p.H55R	REV3L_ENST00000435970.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.H55R|REV3L_ENST00000368802.3_Missense_Mutation_p.H55R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	55					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.H55R(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGATGCCATGTAGATGAAG	0.368000								DNA polymerases (catalytic subunits)					3	19					0	0	0.000602	0	0
PLXNA4	91584	broad.mit.edu	37	7	131815253	131815253	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:131815253C>T	ENST00000359827.3	-	32	6632	c.5670G>A	c.(5668-5670)atG>atA	p.M1890I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.M1890I			Q9HCM2	PLXA4_HUMAN	plexin A4	1890						integral to membrane|intracellular|plasma membrane		p.M1890I(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTAAGCTCATGAGGGTTA	0.532000													5	135					0	0	0.001984	0	0
UTRN	7402	broad.mit.edu	37	6	144812236	144812236	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:144812236A>G	ENST00000367545.3	+	31	4435	c.4435A>G	c.(4435-4437)Atg>Gtg	p.M1479V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1479	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.M1479V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGACAAGTGTATGGTGAGGCT	0.512000													10	132					0	0	0.013537	0	0
ZNF418	147686	broad.mit.edu	37	19	58437834	58437834	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:58437834C>A	ENST00000396147.1	-	4	2006	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	ZNF418_ENST00000595830.1_Missense_Mutation_p.G572V|ZNF418_ENST00000425570.3_Missense_Mutation_p.G593V|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.G487V	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G572V(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAAGAATTTCCCACATTCTCT	0.448000													21	96					5.35356e-11	7.03866e-11	0.002780	1	0
HRNR	388697	broad.mit.edu	37	1	152191001	152191001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:152191001G>T	ENST00000368801.2	-	3	3179	c.3104C>A	c.(3103-3105)tCa>tAa	p.S1035*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1035					keratinization		calcium ion binding|protein binding	p.S1035*(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)			GCCACGGCTTGAAGACCACCC	0.592000													16	356					8.34094e-07	9.8423e-07	0.008871	1	0
KMT2D	8085	broad.mit.edu	37	12	49437167	49437167	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:49437167C>A	ENST00000301067.7	-	24	5511	c.5512G>T	c.(5512-5514)Gag>Tag	p.E1838*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.E1838*(1)|p.E1568*(1)									GCTTTGCCCTCGAGGCCACGG	0.557000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	185					1.12875e-08	1.41694e-08	0.006320	1	0
UNC45B	146862	broad.mit.edu	37	17	33507682	33507682	+	Missense_Mutation	SNP	T	T	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:33507682T>A	ENST00000268876.5	+	18	2463	c.2366T>A	c.(2365-2367)gTg>gAg	p.V789E	UNC45B_ENST00000394570.2_Missense_Mutation_p.V787E|UNC45B_ENST00000591048.1_Missense_Mutation_p.V708E|UNC45B_ENST00000378449.1_Missense_Mutation_p.V708E|UNC45B_ENST00000433649.1_Missense_Mutation_p.V787E	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	789					cell differentiation|muscle organ development	cytosol	binding	p.V789E(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGCAACATGGTGCTCCACAAG	0.597000													6	60					0	0	0.004482	0	0
KIAA0586	9786	broad.mit.edu	37	14	58941426	58941426	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:58941426G>T	ENST00000423743.3	+	20	2862	c.2604G>T	c.(2602-2604)ccG>ccT	p.P868P	KIAA0586_ENST00000261244.5_Silent_p.P836P|KIAA0586_ENST00000556134.1_Silent_p.P897P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Silent_p.P965P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	836								p.P836P(1)|p.P965P(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCATTTCCGCCAGTTGCTT	0.343000													13	35					6.81908e-15	9.32929e-15	0.002450	1	0
NLGN2	57555	broad.mit.edu	37	17	7317997	7317997	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:7317997G>T	ENST00000302926.2	+	4	747	c.674G>T	c.(673-675)gGg>gTg	p.G225V	NLGN2_ENST00000575301.1_Missense_Mutation_p.G225V	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	225					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.G225V(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CTCAGCACCGGGGACCAGGCT	0.632000													9	137					6.40141e-05	7.15987e-05	0.010729	1	0
MACF1	23499	broad.mit.edu	37	1	39929350	39929350	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:39929350A>G	ENST00000564288.1	+	94	22522	c.21745A>G	c.(21745-21747)Aaa>Gaa	p.K7249E	MACF1_ENST00000372915.3_Missense_Mutation_p.K7148E|MACF1_ENST00000539005.1_Missense_Mutation_p.K5060E|MACF1_ENST00000545844.1_Missense_Mutation_p.K5190E|MACF1_ENST00000317713.7_Missense_Mutation_p.K5190E|MACF1_ENST00000361689.2_Missense_Mutation_p.K5190E|MACF1_ENST00000289893.4_Missense_Mutation_p.K5692E|MACF1_ENST00000567887.1_Missense_Mutation_p.K7286E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7148	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.K5692E(1)|p.K5190E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGGAGAGAATAAATACCGGGT	0.458000													10	107					0	0	0.008291	0	0
OR2M4	26245	broad.mit.edu	37	1	248403108	248403108	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:248403108G>A	ENST00000306687.1	+	1	878	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293H(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|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;0.0245)			TATAGCCTCCGCAACAAAGAA	0.438000													10	97					0	0	0.001855	0	0
ZNF436	80818	broad.mit.edu	37	1	23688996	23688996	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:23688996G>A	ENST00000314011.4	-	4	1015	c.879C>T	c.(877-879)ctC>ctT	p.L293L	ZNF436_ENST00000374608.3_Silent_p.L293L|ZNF436_ENST00000374609.1_Intron	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L293L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGTGTTTGATGAGATCAGATC	0.527000													44	140					0	0	0.009718	0	0
PDE4B	5142	broad.mit.edu	37	1	66713197	66713197	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:66713197C>A	ENST00000423207.2	+	2	776	c.291C>A	c.(289-291)gcC>gcA	p.A97A	PDE4B_ENST00000329654.4_Silent_p.A112A|PDE4B_ENST00000371049.3_Silent_p.A112A	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	112					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.A97A(1)|p.A112A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	ATCCCCAGGCCAGCTCTTCCG	0.537000													35	325					3.93418e-24	5.69612e-24	0.004289	1	0
PCDHB15	56121	broad.mit.edu	37	5	140627391	140627391	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:140627391T>C	ENST00000231173.3	+	1	2245	c.2245T>C	c.(2245-2247)Tac>Cac	p.Y749H		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		749					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.Y749H(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAGAGCTACCAGTACGA	0.572000													8	209					0	0	0.006214	0	0
RGP1	9827	broad.mit.edu	37	9	35752769	35752769	+	Silent	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:35752769A>G	ENST00000378078.4	+	9	1215	c.1074A>G	c.(1072-1074)gtA>gtG	p.V358V	RGP1_ENST00000456972.2_Silent_p.V398V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	358								p.V358V(1)|p.V398V(1)		cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAGTACCTGTAGACACCTTCA	0.567000													8	28					0	0	0.004482	0	0
RUNX1T1	862	broad.mit.edu	37	8	93026810	93026810	+	Silent	SNP	T	T	A	rs34991280	byFrequency	TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:93026810T>A	ENST00000523629.1	-	4	919	c.465A>T	c.(463-465)ctA>ctT	p.L155L	RUNX1T1_ENST00000396218.1_Silent_p.L128L|RUNX1T1_ENST00000518844.1_Silent_p.L128L|RUNX1T1_ENST00000436581.2_Silent_p.L166L|RUNX1T1_ENST00000520724.1_Silent_p.L118L|RUNX1T1_ENST00000360348.2_Silent_p.L118L|RUNX1T1_ENST00000265814.3_Silent_p.L155L|RUNX1T1_ENST00000422361.2_Silent_p.L118L|RUNX1T1_ENST00000521553.1_Silent_p.L118L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	155	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L155L(1)|p.L166L(1)|p.L118L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGCTTACCACTAGTCCCAGAA	0.468000													8	154					0	0	0.003080	0	0
RECQL4	9401	broad.mit.edu	37	8	145742036	145742036	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:145742036C>T	ENST00000428558.2	-	5	508	c.467G>A	c.(466-468)aGt>aAt	p.S156N	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	156					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	p.S156N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGGCTCATCACTGACTTTTTC	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	32					0	0	0.000602	0	0
ABCB5	340273	broad.mit.edu	37	7	20685435	20685435	+	Silent	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:20685435G>T	ENST00000404938.2	+	8	1387	c.735G>T	c.(733-735)gtG>gtT	p.V245V		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	431					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.V245V(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						CTGGGGCTGTGGCAGAAGAAG	0.398000													30	114					1.08312e-15	1.50806e-15	0.009535	1	0
DNAH5	1767	broad.mit.edu	37	5	13894780	13894780	+	Nonsense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:13894780C>A	ENST00000265104.4	-	16	2514	c.2410G>T	c.(2410-2412)Gaa>Taa	p.E804*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	804	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E804*(2)		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)					AAAGTGTTTTCTAAATAAGCC	0.388000									Kartagener syndrome				18	82					2.4624e-09	3.13275e-09	0.008871	1	0
GCG	2641	broad.mit.edu	37	2	163000563	163000563	+	Missense_Mutation	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:163000563C>A	ENST00000418842.2	-	5	764	c.510G>T	c.(508-510)tgG>tgT	p.W170C	GCG_ENST00000375497.3_Missense_Mutation_p.W170C	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	170					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	p.W170C(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TCTGAATCAACCAGTTTATAA	0.403000													13	31					6.31663e-08	7.74402e-08	0.003163	1	0
VLDLR	7436	broad.mit.edu	37	9	2635500	2635500	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:2635500C>T	ENST00000382100.2	+	2	486	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R44C|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	44	LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	p.R44C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CACAAATGGTCGCTGTATTAC	0.418000													74	189					0	0	0.014410	0	0
FAM65A	79567	broad.mit.edu	37	16	67575922	67575922	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:67575922C>A	ENST00000540839.3	+	14	1513	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	FAM65A_ENST00000422602.2_Silent_p.P431P|FAM65A_ENST00000428437.2_Silent_p.P425P|FAM65A_ENST00000379312.3_Silent_p.P415P|FAM65A_ENST00000042381.4_Silent_p.P411P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	415						cytoplasm	binding	p.P411P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AGCCCCTTCCCATCCAAGTTG	0.652000													23	77					5.45727e-16	7.68905e-16	0.008361	1	0
NRK	203447	broad.mit.edu	37	X	105153552	105153552	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:105153552T>C	ENST00000428173.2	+	13	2225	c.1922T>C	c.(1921-1923)aTa>aCa	p.I641T	NRK_ENST00000243300.9_Missense_Mutation_p.I640T			Q7Z2Y5	NRK_HUMAN	Nik related kinase	640							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.I640T(1)|p.I641T(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAAGCACTGATAGAGGGACTA	0.493000										HNSCC(51;0.14)			5	6					0	0	0.001168	0	0
ZNF331	55422	broad.mit.edu	37	19	54080224	54080224	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:54080224G>A	ENST00000253144.9	+	7	1743	c.410G>A	c.(409-411)gGg>gAg	p.G137E	ZNF331_ENST00000512387.1_Missense_Mutation_p.G137E|ZNF331_ENST00000511593.2_Missense_Mutation_p.G137E|ZNF331_ENST00000511154.1_Missense_Mutation_p.G137E|ZNF331_ENST00000513999.1_Missense_Mutation_p.G137E|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000449416.1_Missense_Mutation_p.G137E|ZNF331_ENST00000411977.2_Missense_Mutation_p.G137E	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G137E(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AAGGACTGTGGGAAGGCCTTT	0.413000			T	?	follicular thyroid adenoma								29	105					0	0	0.008361	0	0
BRPF1	7862	broad.mit.edu	37	3	9785450	9785450	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:9785450G>C	ENST00000383829.2	+	8	2904	c.2500G>C	c.(2500-2502)Gag>Cag	p.E834Q	BRPF1_ENST00000469066.1_3'UTR|BRPF1_ENST00000424362.1_Missense_Mutation_p.E827Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.E828Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.E828Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.E828Q	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	828	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.E834Q(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCATCAGCGAGAGACGGGACG	0.622000													8	35					0	0	0.008291	0	0
IRS1	3667	broad.mit.edu	37	2	227659915	227659915	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:227659915T>C	ENST00000305123.4	-	1	4560	c.3540A>G	c.(3538-3540)atA>atG	p.I1180M	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1180					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.I1180M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AATCCAGGTCTATGTAGTTAA	0.612000													10	85					0	0	0.010729	0	0
OR4M2	390538	broad.mit.edu	37	15	22368951	22368951	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:22368951A>T	ENST00000332663.2	+	1	474	c.376A>T	c.(376-378)Atc>Ttc	p.I126F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126F(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTACACTGCTATCTGCCGACC	0.493000													40	116					0	0	0.006230	0	0
SPOPL	339745	broad.mit.edu	37	2	139322350	139322350	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:139322350G>A	ENST00000280098.4	+	9	1289	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	304						nucleus		p.D304N(1)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAATGTTGCAGATACCCTTGT	0.408000													16	206					0	0	0.003163	0	0
ITIH1	3697	broad.mit.edu	37	3	52816082	52816082	+	Splice_Site	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:52816082G>T	ENST00000273283.2	+	7	837		c.e7+1		ITIH1_ENST00000542827.1_Splice_Site|ITIH1_ENST00000540715.1_Splice_Site|ITIH1_ENST00000537050.1_Splice_Site|ITIH1_ENST00000487686.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.?(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)		CGACCTCCTGGTGAGCCCTGA	0.567000													24	79					4.7796e-09	6.03201e-09	0.004656	1	0
NDUFB2	4708	broad.mit.edu	37	7	140402688	140402688	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:140402688G>C	ENST00000476279.1	+	2	195	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000465506.1_Missense_Mutation_p.E41Q|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000475276.1_Missense_Mutation_p.E14Q|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000247866.4_Missense_Mutation_p.E41Q|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.E29Q|NDUFB2_ENST00000204307.5_Missense_Mutation_p.E31Q|NDUFB2_ENST00000464564.2_3'UTR			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	41					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.E41Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	TGTGCACATTGAGCCCCGGTA	0.517000													43	266					0	0	0.010771	0	0
ZNF236	7776	broad.mit.edu	37	18	74606978	74606978	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr18:74606978G>A	ENST00000253159.8	+	10	1619	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	ZNF236_ENST00000320610.9_Missense_Mutation_p.R476H	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	474					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R474H(4)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGCTCCATCCGCGAGGAGAAC	0.662000													15	118					0	0	0.006122	0	0
SLC12A1	6557	broad.mit.edu	37	15	48541816	48541816	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:48541816G>A	ENST00000396577.3	+	14	1944	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A577T|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A577T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	577					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.A577T(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTTTTTCCTGGCCTCATATGC	0.418000													10	98					0	0	0.008291	0	0
GPR133	283383	broad.mit.edu	37	12	131439012	131439012	+	Translation_Start_Site	SNP	T	T	A	rs144264048		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:131439012T>A	ENST00000261654.5	+	1	561	c.2T>A	c.(1-3)aTg>aAg	p.M1K	GPR133_ENST00000535015.1_Start_Codon_SNP_p.M1K	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	1					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.M1K(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGAGAGCCATGGAAAAGCTG	0.512000													14	78					0	0	0.003163	0	0
UBXN2A	165324	broad.mit.edu	37	2	24222558	24222558	+	Missense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr2:24222558G>C	ENST00000309033.4	+	7	845	c.601G>C	c.(601-603)Gac>Cac	p.D201H	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.D201H|UBXN2A_ENST00000535786.1_Missense_Mutation_p.D148H	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	201	UBX.							p.D201H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						CCATATCAAAGACTTCATTGA	0.353000													13	93					0	0	0.013537	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54714430	54714430	+	Silent	SNP	G	G	A	rs139364478		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr8:54714430G>A	ENST00000355221.3	-	7	1111	c.552C>T	c.(550-552)gcC>gcT	p.A184A	ATP6V1H_ENST00000359530.2_Silent_p.A202A|ATP6V1H_ENST00000520188.1_Silent_p.A162A|ATP6V1H_ENST00000396774.2_Silent_p.A202A	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	202					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism	p.A184A(1)		endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GCAAACACCCGGCCACGCACT	0.448000													4	52					0	0	0.000602	0	0
STAB1	23166	broad.mit.edu	37	3	52546905	52546905	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:52546905C>T	ENST00000321725.6	+	29	3165	c.3089C>T	c.(3088-3090)gCa>gTa	p.A1030V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1030	FAS1 3.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A1030V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCGAGGCTGCAGTCCGTCAG	0.697000													12	42					0	0	0.003163	0	0
LPHN3	23284	broad.mit.edu	37	4	62849254	62849254	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:62849254G>T	ENST00000512091.1	+	18	3712	c.2965G>T	c.(2965-2967)Ggg>Tgg	p.G989W	LPHN3_ENST00000506720.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000504896.1_Missense_Mutation_p.G989W|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000514157.1_Missense_Mutation_p.G989W|LPHN3_ENST00000508946.1_Missense_Mutation_p.G989W|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000514996.1_Missense_Mutation_p.G989W|LPHN3_ENST00000506700.1_Missense_Mutation_p.G989W|LPHN3_ENST00000514591.1_Missense_Mutation_p.G989W|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1057W|LPHN3_ENST00000545650.1_Missense_Mutation_p.G989W|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1057W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	976					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.G989W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGTCGGCTATGGGATGCCTGC	0.423000													13	94					1.01871e-10	1.32461e-10	0.008871	1	0
DDX60L	91351	broad.mit.edu	37	4	169336592	169336592	+	Missense_Mutation	SNP	A	A	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:169336592A>T	ENST00000511577.1	-	22	3193	c.2946T>A	c.(2944-2946)caT>caA	p.H982Q	DDX60L_ENST00000505890.1_Missense_Mutation_p.H982Q|DDX60L_ENST00000260184.7_Missense_Mutation_p.H982Q			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	982							ATP binding|ATP-dependent helicase activity|RNA binding	p.H982Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGGGATGAAAATGATCAAAAT	0.348000													3	14					0	0	0.004672	0	0
DGKI	9162	broad.mit.edu	37	7	137308271	137308271	+	Silent	SNP	A	A	G	rs112061731		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:137308271A>G	ENST00000424189.2	-	7	1063	c.834T>C	c.(832-834)agT>agC	p.S278S	DGKI_ENST00000446122.1_Silent_p.S278S|DGKI_ENST00000288490.5_Silent_p.S278S|DGKI_ENST00000453654.1_5'UTR			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	278					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.S278S(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAATCTCTTTACTGTGGAAGG	0.443000													60	131					0	0	0.014410	0	0
BDP1	55814	broad.mit.edu	37	5	70818153	70818153	+	Missense_Mutation	SNP	A	A	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:70818153A>G	ENST00000358731.4	+	23	5292	c.5029A>G	c.(5029-5031)Atg>Gtg	p.M1677V	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1677					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.M1677V(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTCAGCACAAATGACAAGAAG	0.348000													5	185					0	0	0.000602	0	0
MORC4	79710	broad.mit.edu	37	X	106221360	106221360	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chrX:106221360G>A	ENST00000355610.4	-	8	1280	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	MORC4_ENST00000255495.7_Missense_Mutation_p.H336Y|MORC4_ENST00000535534.1_Missense_Mutation_p.H84Y	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	336							ATP binding|zinc ion binding	p.H336Y(1)|p.H159Y(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CGGTTGTTATGATACATCATT	0.388000													11	61					0	0	0.008291	0	0
ECE1	1889	broad.mit.edu	37	1	21560098	21560098	+	Silent	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:21560098T>C	ENST00000415912.2	-	14	1700	c.1575A>G	c.(1573-1575)tcA>tcG	p.S525S	ECE1_ENST00000264205.6_Silent_p.S538S|ECE1_ENST00000374893.6_Silent_p.S541S|ECE1_ENST00000357071.4_Silent_p.S529S|ECE1_ENST00000436918.2_Silent_p.S541S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	541					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	p.S541S(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TGACCCTCCATGAGAAGTTGA	0.547000													12	47					0	0	0.001855	0	0
TNC	3371	broad.mit.edu	37	9	117849201	117849201	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr9:117849201C>T	ENST00000350763.4	-	3	1220	c.809G>A	c.(808-810)tGc>tAc	p.C270Y	TNC_ENST00000423613.2_Missense_Mutation_p.C270Y|TNC_ENST00000542877.1_Missense_Mutation_p.C270Y|TNC_ENST00000346706.3_Missense_Mutation_p.C270Y|TNC_ENST00000341037.4_Missense_Mutation_p.C270Y|TNC_ENST00000345230.3_Missense_Mutation_p.C270Y|TNC_ENST00000340094.3_Missense_Mutation_p.C270Y|TNC_ENST00000535648.1_Missense_Mutation_p.C270Y|TNC_ENST00000537320.1_Missense_Mutation_p.C270Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	270	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C270Y(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCATCGTGGCACACACACAA	0.557000													12	79					0	0	0.010729	0	0
CDCA3	83461	broad.mit.edu	37	12	6959654	6959654	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr12:6959654G>T	ENST00000422785.3	-	3	331	c.227C>A	c.(226-228)aCa>aAa	p.T76K	CDCA3_ENST00000229265.6_Missense_Mutation_p.T76K|CDCA3_ENST00000538862.2_Missense_Mutation_p.T76K|CDCA3_ENST00000535406.1_Missense_Mutation_p.T76K|CDCA3_ENST00000540683.1_Missense_Mutation_p.T76K			Q99618	CDCA3_HUMAN	cell division cycle associated 3	76					cell division|mitosis	cytosol		p.T76K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						CTTCATAGGTGTCCGTGCAAT	0.542000													45	202					5.73435e-26	8.37961e-26	0.014410	1	0
LILRB5	10990	broad.mit.edu	37	19	54754668	54754668	+	Silent	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:54754668G>A	ENST00000316219.5	-	13	1862	c.1755C>T	c.(1753-1755)gcC>gcT	p.A585A	LILRB5_ENST00000449561.2_Silent_p.A586A|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000345866.6_Silent_p.A486A	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	585					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A585A(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCAGGGGGGCGTAGATGC	0.607000													12	110					0	0	0.002450	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906248	164906248	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:164906248G>T	ENST00000475390.1	-	2	2814	c.2371C>A	c.(2371-2373)Ctc>Atc	p.L791I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L791I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	791						integral to membrane		p.L791I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTTCCTAGGAGAGCCTCACCC	0.572000										HNSCC(40;0.11)			34	123					5.04308e-16	7.12675e-16	0.006230	1	0
IGHD	3495	broad.mit.edu	37	14	106307427	106307427	+	RNA	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:106307427C>T	ENST00000390556.2	-	0	610																											CGGCCACCTCCCAGGTCAGGT	0.662000													5	15					0	0	0.001984	0	0
TSHR	7253	broad.mit.edu	37	14	81609453	81609453	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr14:81609453C>T	ENST00000541158.2	+	11	1373	c.1051C>T	c.(1051-1053)Cat>Tat	p.H351Y	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.H351Y			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	351					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.H351Y(1)|p.H351D(1)		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)	TAACAACGCTCATTATTACGT	0.448000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						53	109					0	0	0.014410	0	0
PRX	57716	broad.mit.edu	37	19	40900895	40900895	+	Nonsense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr19:40900895G>A	ENST00000324001.7	-	7	3634	c.3364C>T	c.(3364-3366)Cag>Tag	p.Q1122*	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1122	Glu-rich (acidic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.Q1122*(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGACAGCTGCATTCCACTG	0.672000													10	210					0	0	0.001855	0	0
KMT2A	4297	broad.mit.edu	37	11	118344632	118344632	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:118344632G>T	ENST00000534358.1	+	3	2781	c.2758G>T	c.(2758-2760)Gat>Tat	p.D920Y	KMT2A_ENST00000389506.5_Missense_Mutation_p.D920Y|KMT2A_ENST00000354520.4_Missense_Mutation_p.D920Y	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.D920Y(2)									TGTTGGTGAAGATGTTGCCAC	0.433000													12	119					2.27111e-07	2.7346e-07	0.013537	1	0
SLC12A5	57468	broad.mit.edu	37	20	44674597	44674597	+	Silent	SNP	C	C	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:44674597C>A	ENST00000454036.1	+	13	1795	c.1719C>A	c.(1717-1719)ctC>ctA	p.L573L	SLC12A5_ENST00000243964.3_Silent_p.L550L|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	573					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.L550L(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)	TTGGCATCCTCATTGCATCCC	0.582000													19	229					8.28177e-16	1.15994e-15	0.007413	1	0
SNHG14	104472715	broad.mit.edu	37	15	25438301	25438301	+	RNA	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr15:25438301T>C	ENST00000424208.1	+	0	1160				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						GGAGGAAGACTTGAATTGGTC	0.597000													7	27					0	0	0.001984	0	0
RHBDF1	64285	broad.mit.edu	37	16	109338	109338	+	Missense_Mutation	SNP	T	T	G			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:109338T>G	ENST00000262316.6	-	16	2045	c.1903A>C	c.(1903-1905)Atg>Ctg	p.M635L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	635					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.M635L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACATCATCCATGCAGTGCACC	0.607000													12	47					0	0	0.013537	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42974720	42974720	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr6:42974720G>A	ENST00000485511.1	+	4	573	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.V124M|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.V100M|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.V26M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	132					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.V132M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTTTGACTTCGTGTCAGACCC	0.557000													28	230					0	0	0.006320	0	0
SCFD2	152579	broad.mit.edu	37	4	53751949	53751949	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:53751949T>C	ENST00000401642.3	-	8	2060	c.1927A>G	c.(1927-1929)Aaa>Gaa	p.K643E	SCFD2_ENST00000388940.4_Missense_Mutation_p.K598E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	643					protein transport|vesicle docking involved in exocytosis			p.K643E(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAGATCTTTGACCATTTTC	0.527000													7	98					0	0	0.001984	0	0
NUF2	83540	broad.mit.edu	37	1	163295923	163295923	+	Missense_Mutation	SNP	G	G	A			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:163295923G>A	ENST00000271452.3	+	2	361	c.82G>A	c.(82-84)Ggt>Agt	p.G28S	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000524800.1_Missense_Mutation_p.G28S|NUF2_ENST00000367900.3_Missense_Mutation_p.G28S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	28	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	p.G28S(2)|p.G28C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGAGCTGATGGTAAAAACCT	0.358000													19	68					0	0	0.007413	0	0
ROBO2	6092	broad.mit.edu	37	3	77666811	77666811	+	Missense_Mutation	SNP	G	G	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:77666811G>T	ENST00000461745.1	+	22	4341	c.3441G>T	c.(3439-3441)caG>caT	p.Q1147H	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q1147H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Q1163H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1147					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.Q1163H(1)|p.Q1147H(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCTTTGGACAGCAGTCCACTG	0.507000													14	72					2.31682e-05	2.6287e-05	0.003163	1	0
SESN2	83667	broad.mit.edu	37	1	28598891	28598891	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr1:28598891C>T	ENST00000253063.3	+	4	772	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	151					cell cycle arrest	cytoplasm|nucleus		p.R151W(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTCCACCGGGCCCCCGA	0.627000													15	77					0	0	0.004007	0	0
METTL10	399818	broad.mit.edu	37	10	126477687	126477687	+	Missense_Mutation	SNP	C	C	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:126477687C>T	ENST00000494792.1	-	3	109	c.110G>A	c.(109-111)tGc>tAc	p.C37Y	METTL10_ENST00000368836.2_Missense_Mutation_p.M72I														p.M72I(1)									TGTGTTTCTGCATCCACCTTA	0.388000													15	154					0	0	0.006122	0	0
TTI1	9675	broad.mit.edu	37	20	36640042	36640042	+	Nonsense_Mutation	SNP	G	G	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr20:36640042G>C	ENST00000373448.2	-	3	2415	c.2177C>G	c.(2176-2178)tCa>tGa	p.S726*	TTI1_ENST00000449821.1_Nonsense_Mutation_p.S726*|TTI1_ENST00000373447.3_Nonsense_Mutation_p.S726*	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	726							binding	p.S726*(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTTAGCATCTGAGTTCCGCAG	0.468000													9	81					0	0	0.006214	0	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													4	197					0	0	0.009096	0	0
EHHADH	1962	broad.mit.edu	37	3	184910072	184910072	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr3:184910072delC	ENST00000231887.3	-	7	2189	c.2114delG	c.(2113-2115)gafs	p.G705fs	EHHADH_ENST00000456310.1_Frame_Shift_Del_p.G609fs	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	705						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.G705E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	GGGAGGGTTTCCCTGAGAAGC	0.453													31	103	---	---	---	---					
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)gafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304													8	84	---	---	---	---					
MGAT4B	11282	broad.mit.edu	37	5	179228997	179228997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr5:179228997delG	ENST00000337755.5	-	1	1001	c.115delC	c.(115-117)tcfs	p.L39fs	MGAT4B_ENST00000292591.7_Intron|MGAT4B_ENST00000521305.1_Intron	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	0					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGTCACGAGGGGGCGGTCT	0.622											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	220	---	---	---	---					
MIOS	54468	broad.mit.edu	37	7	7612858	7612858	+	Frame_Shift_Del	DEL	G	G	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:7612858delG	ENST00000340080.4	+	4	1173	c.752delG	c.(751-753)tgfs	p.W251fs	MIOS_ENST00000405785.1_Frame_Shift_Del_p.W251fs	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	251										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTGCAATATGGGATCTTAGA	0.428													24	110	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100369717	100369718	+	RNA	INS	-	-	T			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:100369717_100369718insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cttcctctaaattctttttttt	0.535													2	4	---	---	---	---					
JHDM1D-AS1	100134229	broad.mit.edu	37	7	139878082	139878089	+	RNA	DEL	TCCCTCCC	TCCCTCCC	-	rs57191915		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr7:139878082_139878089delTCCCTCCC	ENST00000566699.1	+	0	1022_1029					NR_024451.1																						cttccttccttccctccctccCTTTCCT	0.471													3	4	---	---	---	---					
GAD2	2572	broad.mit.edu	37	10	26562572	26562572	+	Frame_Shift_Del	DEL	G	G	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr10:26562572delG	ENST00000376261.3	+	11	1603	c.1100delG	c.(1099-1101)tgfs	p.W367fs	GAD2_ENST00000259271.3_Frame_Shift_Del_p.W367fs	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	367					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CAGGCAGCTTGGGGTGGGGGA	0.398													19	138	---	---	---	---					
SBF2	81846	broad.mit.edu	37	11	9983593	9983593	+	Frame_Shift_Del	DEL	C	C	-	rs138410095		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:9983593delC	ENST00000256190.8	-	16	1908	c.1771delG	c.(1771-1773)aafs	p.E591fs		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	591					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACCCAATTCATCAGTGAGA	0.433													9	103	---	---	---	---					
OR5F1	338674	broad.mit.edu	37	11	55761554	55761554	+	Frame_Shift_Del	DEL	G	G	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:55761554delG	ENST00000278409.1	-	1	547	c.548delC	c.(547-549)cafs	p.P183fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTTGAAAAGTGGGGGACTGTC	0.463													11	110	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900648	123900648	+	Frame_Shift_Del	DEL	G	G	-	rs146241525		TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr11:123900648delG	ENST00000431524.1	+	1	352	c.319delG	c.(319-321)ggfs	p.G108fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G107W(2)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCACTTCCTAGGGGGCACCGA	0.547													23	164	---	---	---	---					
KAT8	84148	broad.mit.edu	37	16	31139391	31139392	+	Frame_Shift_Ins	INS	-	-	C			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr16:31139391_31139392insC	ENST00000543774.2	+	7	1037_1038	c.702_703insC	c.(700-705)caccccfs	p.HP234fs	KAT8_ENST00000219797.4_Frame_Shift_Ins_p.HP234fs|KAT8_ENST00000448516.2_Frame_Shift_Ins_p.HP234fs			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	234					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										AGTGGCGGCAGCCCCCCGGGAA	0.594													7	223	---	---	---	---					
EME1	146956	broad.mit.edu	37	17	48453005	48453005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-35-4122-01A-01D-1105-08	TCGA-35-4122-10A-01D-1105-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	408e1cb4-64a8-4801-bf58-3b8183ede851	a969f6fd-3d2e-447c-bf05-57c2466b3357	g.chr17:48453005delC	ENST00000393271.2	+	2	518	c.436delC	c.(436-438)ccfs	p.P146fs	EME1_ENST00000338165.4_Frame_Shift_Del_p.P146fs|EME1_ENST00000511648.2_Frame_Shift_Del_p.P146fs	NM_001166131.1	NP_001159603.1	Q96AY2	EME1_HUMAN	essential meiotic structure-specific endonuclease 1	146					DNA recombination|DNA repair	nucleolus	DNA binding|endonuclease activity|metal ion binding|protein binding			endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	19	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CCCTGAAGTTCCCCTCCATGA	0.483								Direct reversal of damage;Homologous recombination					12	166	---	---	---	---